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class="vector-toc-numb">2</span> <span>Possible outcomes</span> </div> </a> <button aria-controls="toc-Possible_outcomes-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Possible outcomes subsection</span> </button> <ul id="toc-Possible_outcomes-sublist" class="vector-toc-list"> <li id="toc-Deleterious" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Deleterious"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.1</span> <span>Deleterious</span> </div> </a> <ul id="toc-Deleterious-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Neutral" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Neutral"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.2</span> <span>Neutral</span> </div> </a> <ul id="toc-Neutral-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Beneficial" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Beneficial"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.3</span> <span>Beneficial</span> </div> </a> <ul id="toc-Beneficial-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Suppressing_nonsense_mutations" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Suppressing_nonsense_mutations"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Suppressing nonsense mutations</span> </div> </a> <ul id="toc-Suppressing_nonsense_mutations-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Common_disease-associated_nonsense_mutations" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Common_disease-associated_nonsense_mutations"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Common disease-associated nonsense mutations</span> </div> </a> <button aria-controls="toc-Common_disease-associated_nonsense_mutations-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Common disease-associated nonsense mutations subsection</span> </button> <ul id="toc-Common_disease-associated_nonsense_mutations-sublist" class="vector-toc-list"> <li id="toc-LGR4" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#LGR4"> <div class="vector-toc-text"> <span class="vector-toc-numb">4.1</span> <span>LGR4</span> </div> </a> <ul id="toc-LGR4-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Therapeutics_targeting_nonsense_mutation_diseases" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Therapeutics_targeting_nonsense_mutation_diseases"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Therapeutics targeting nonsense mutation diseases</span> </div> </a> <ul id="toc-Therapeutics_targeting_nonsense_mutation_diseases-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links_and_references" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links_and_references"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>External links and references</span> </div> </a> <ul id="toc-External_links_and_references-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" 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Available in 21 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-21" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">21 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%B7%D9%81%D8%B1%D8%A9_%D8%BA%D9%8A%D8%B1_%D9%85%D9%86%D8%B7%D9%82%D9%8A%D8%A9" title="طفرة غير منطقية – Arabic" lang="ar" hreflang="ar" data-title="طفرة غير منطقية" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/M%C9%99nas%C4%B1z_mutasiya" title="Mənasız mutasiya – Azerbaijani" lang="az" hreflang="az" data-title="Mənasız mutasiya" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaijani" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Nonsens_mutacija" title="Nonsens mutacija – Bosnian" lang="bs" hreflang="bs" data-title="Nonsens mutacija" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Nonsensmutation" title="Nonsensmutation – Danish" lang="da" hreflang="da" data-title="Nonsensmutation" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Mutaci%C3%B3n_sin_sentido" title="Mutación sin sentido – Spanish" lang="es" hreflang="es" data-title="Mutación sin sentido" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%AC%D9%87%D8%B4_%D8%A8%DB%8C%E2%80%8C%D9%85%D8%B9%D9%86%DB%8C" title="جهش بی‌معنی – Persian" lang="fa" hreflang="fa" data-title="جهش بی‌معنی" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Mutation_non-sens" title="Mutation non-sens – French" lang="fr" hreflang="fr" data-title="Mutation non-sens" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Mutaci%C3%B3n_sen_sentido" title="Mutación sen sentido – Galician" lang="gl" hreflang="gl" data-title="Mutación sen sentido" data-language-autonym="Galego" data-language-local-name="Galician" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%9E%D7%95%D7%98%D7%A6%D7%99%D7%99%D7%AA_%D7%A4%D7%A1%D7%A7" title="מוטציית פסק – Hebrew" lang="he" hreflang="he" data-title="מוטציית פסק" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E3%83%8A%E3%83%B3%E3%82%BB%E3%83%B3%E3%82%B9%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0" title="ナンセンス突然変異 – Japanese" lang="ja" hreflang="ja" data-title="ナンセンス突然変異" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Mutacja_nonsensowna" title="Mutacja nonsensowna – Polish" lang="pl" hreflang="pl" data-title="Mutacja nonsensowna" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Muta%C3%A7%C3%A3o_sem_sentido" title="Mutação sem sentido – Portuguese" lang="pt" hreflang="pt" data-title="Mutação sem sentido" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%9D%D0%BE%D0%BD%D1%81%D0%B5%D0%BD%D1%81-%D0%BC%D1%83%D1%82%D0%B0%D1%86%D0%B8%D1%8F" title="Нонсенс-мутация – Russian" lang="ru" hreflang="ru" data-title="Нонсенс-мутация" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-simple badge-Q70893996 mw-list-item" title=""><a href="https://simple.wikipedia.org/wiki/Nonsense_mutation" title="Nonsense mutation – Simple English" lang="en-simple" hreflang="en-simple" data-title="Nonsense mutation" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Besmisleni_kodon" title="Besmisleni kodon – Serbo-Croatian" lang="sh" hreflang="sh" data-title="Besmisleni kodon" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="Serbo-Croatian" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Nonsense-mutaatio" title="Nonsense-mutaatio – Finnish" lang="fi" hreflang="fi" data-title="Nonsense-mutaatio" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Nonsensmutation" title="Nonsensmutation – Swedish" lang="sv" hreflang="sv" data-title="Nonsensmutation" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Anlams%C4%B1z_mutasyon" title="Anlamsız mutasyon – Turkish" lang="tr" hreflang="tr" 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<div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Type of mutation in a DNA sequence</div> <p>In <a href="/wiki/Genetics" title="Genetics">genetics</a>, a <b>nonsense mutation</b> is a <a href="/wiki/Point_mutation" title="Point mutation">point mutation</a> in a <a href="/wiki/DNA_sequence" class="mw-redirect" title="DNA sequence">sequence</a> of <a href="/wiki/DNA" title="DNA">DNA</a> that results in a <i>nonsense codon</i>, or a premature <a href="/wiki/Stop_codon" title="Stop codon">stop codon</a> in the <a href="/wiki/Transcription_(genetics)" class="mw-redirect" title="Transcription (genetics)">transcribed</a> <a href="/wiki/MRNA" class="mw-redirect" title="MRNA">mRNA</a>, and leads to a truncated, incomplete, and possibly nonfunctional <a href="/wiki/Protein" title="Protein">protein</a> product.<sup id="cite_ref-:1_1-0" class="reference"><a href="#cite_note-:1-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Nonsense mutations are not always harmful;<sup id="cite_ref-:11_2-0" class="reference"><a href="#cite_note-:11-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> the functional effect of a nonsense mutation depends on many aspects, such as the location of the <a href="/wiki/Stop_codon" title="Stop codon">stop codon</a> within the coding <a href="/wiki/DNA" title="DNA">DNA</a>.<sup id="cite_ref-:11_2-1" class="reference"><a href="#cite_note-:11-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> For example, the effect of a nonsense mutation depends on the proximity of the nonsense mutation to the original stop codon, and the degree to which functional subdomains of the protein are affected.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> As nonsense mutations leads to premature termination of <a href="/wiki/Polypeptide_chain" class="mw-redirect" title="Polypeptide chain">polypeptide chains</a>; they are also called chain termination mutations.<sup id="cite_ref-:2_4-0" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Missense_mutation" title="Missense mutation">Missense mutations</a> differ from nonsense mutations since they are <a href="/wiki/Point_mutation" title="Point mutation">point mutations</a> that exhibit a single <a href="/wiki/Nucleotide" title="Nucleotide">nucleotide</a> change to cause substitution of a different <a href="/wiki/Amino_acid" title="Amino acid">amino acid</a>. A nonsense mutation also differs from a <a href="/wiki/Stop_codon#Nonstop" title="Stop codon">nonstop mutation</a>, which is a point mutation that removes a stop codon. About 10% of patients facing genetic diseases have involvement with nonsense mutations.<sup id="cite_ref-:3_5-0" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Some of the diseases that these mutations can cause are <a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne muscular dystrophy</a> (DMD), <a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">cystic fibrosis</a> (CF),<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Spinal_muscular_atrophy" title="Spinal muscular atrophy">spinal muscular atrophy</a> (SMA), <a href="/wiki/Cancer" title="Cancer">cancers</a>, <a href="/wiki/Metabolic_diseases" class="mw-redirect" title="Metabolic diseases">metabolic diseases</a>, and <a href="/wiki/Neurological_disorder" title="Neurological disorder">neurologic disorders.</a><sup id="cite_ref-:3_5-1" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> The rate of nonsense mutations is variable from gene-to-gene and tissue-to-tissue, but gene silencing occurs in every patient with a nonsense mutation.<sup id="cite_ref-:3_5-2" class="reference"><a href="#cite_note-:3-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Simple_example">Simple example</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=1" title="Edit section: Simple example"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <pre> <a href="/wiki/DNA" title="DNA">DNA</a>: 5′—ATG ACT CAC <span style="background-color:#ccf">CGA</span> GCG CGA AGC TGA—3′ 3′—TAC TGA GTG <span style="background-color:#ccf">GCT</span> CGC GCT TCG ACT—5′<br /> <a href="/wiki/MRNA" class="mw-redirect" title="MRNA">mRNA</a>: 5′—AUG ACU CAC <span style="background-color:#fcc">CGA</span> GCG CGA AGC UGA—3′<br /> Protein: N—<a href="/wiki/Methionine" title="Methionine">Met</a> <a href="/wiki/Threonine" title="Threonine">Thr</a> <a href="/wiki/Histidine" title="Histidine">His</a> <span style="background-color:#ffc"><a href="/wiki/Arginine" title="Arginine">Arg</a></span> <a href="/wiki/Alanine" title="Alanine">Ala</a> <a href="/wiki/Arginine" title="Arginine">Arg</a> <a href="/wiki/Serine" title="Serine">Ser</a> <a href="/wiki/Stop_codon" title="Stop codon">Stop</a>—C </pre> <p>The example above begins with a 5' <a href="/wiki/DNA_sequence" class="mw-redirect" title="DNA sequence">DNA sequence</a> with 24 <a href="/wiki/Nucleotide" title="Nucleotide">nucleotides</a> (8 triplet codons) seen and its complementary strand shown below. The next row highlights the 5' <a href="/wiki/Messenger_RNA" title="Messenger RNA">mRNA</a> strand, which is generated through <a href="/wiki/Transcription_(biology)" title="Transcription (biology)">transcription</a>. Lastly, the final row showcases which the <a href="/wiki/Amino_acid" title="Amino acid">amino acids</a> that are <a href="/wiki/Translation" title="Translation">translated</a> from each respective <a href="/wiki/Codon" class="mw-redirect" title="Codon">codon</a>, with the eighth and final codon representing the <a href="/wiki/Stop_codon" title="Stop codon">stop codon</a>. The codons corresponding to the fourth amino acid, <a href="/wiki/Arginine" title="Arginine">Arginine</a> (Arg), are highlighted because they will undergo a nonsense mutation in the following figure of this example. </p> <pre> <a href="/wiki/DNA" title="DNA">DNA</a>: 5′—ATG ACT CAC <span style="background-color:#8888ff">T</span><span style="background-color:#ccf">GA</span> GCG CGA AGC TGA—3′ 3′—TAC TGA GTG <span style="background-color:#8888ff">A</span><span style="background-color:#ccf">CT</span> CGC GCT TCG ACT—5′<br /> <a href="/wiki/MRNA" class="mw-redirect" title="MRNA">mRNA</a>: 5′—AUG ACU CAC <span style="background-color:#ff8888">U</span><span style="background-color:#fcc">GA</span> GCG CGU AGC UGA—3′<br /> Protein: N—<a href="/wiki/Methionine" title="Methionine">Met</a> <a href="/wiki/Threonine" title="Threonine">Thr</a> <a href="/wiki/Histidine" title="Histidine">His</a> <span style="background-color:#ffff88"><a href="/wiki/Stop_codon" title="Stop codon">Stop</a></span>—C </pre> <p>Now, suppose that a nonsense mutation was introduced at the fourth codon in the 5′ DNA sequence (CGA) causing the <a href="/wiki/Cytosine" title="Cytosine">cytosine</a> to be replaced with <a href="/wiki/Thymine" title="Thymine">thymine</a>, yielding TGA in the 5′ DNA sequence and ACT in the complementary strand. Because ACT is transcribed as UGA, it is translated as a stop codon. This leads the remaining codons of the mRNA to not be translated into protein because the stop codon is prematurely reached during translation. This can yield a truncated (<i>i.e.</i>, abbreviated) protein product, which quite often lacks the functionality of the normal, non-mutant protein.<sup id="cite_ref-:1_1-1" class="reference"><a href="#cite_note-:1-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <table align="center" class="wikitable" style="border:none;"> <caption>All possible nonsense mutations </caption> <tbody><tr> <th scope="col"><i>amber</i> (<style data-mw-deduplicate="TemplateStyles:r886049734">.mw-parser-output .monospaced{font-family:monospace,monospace}</style><span class="monospaced">UAG</span>) mutations </th> <th scope="col"><i>ochre</i> (<link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r886049734"><span class="monospaced">UAA</span>) mutations </th> <th scope="col"><i>opal</i> (<link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r886049734"><span class="monospaced">UGA</span>) mutations </th></tr> <tr> <td> <p><span style="font-family: monospace"><span style="background-color:#ff8888">A</span>AG (Lys)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>AG (stop)</span><br /> <span style="font-family: monospace"><span style="background-color:#ff8888">C</span>AG (Gln)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>AG (stop)</span><br /> <span style="font-family: monospace"><span style="background-color:#ff8888">G</span>AG (Glu)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>AG (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">C</span>G (Ser)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">A</span>G (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">G</span>G (Trp)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">A</span>G (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">U</span>G (Leu)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">A</span>G (stop)</span><br /> <span style="font-family: monospace">UA<span style="background-color:#ff8888">C</span> (Tyr)</span> → <span style="font-family: monospace">UA<span style="background-color:#ff8888">G</span> (stop)</span><br /> <span style="font-family: monospace">UA<span style="background-color:#ff8888">U</span> (Tyr)</span> → <span style="font-family: monospace">UA<span style="background-color:#ff8888">G</span> (stop)</span> </p> </td> <td> <p><span style="font-family: monospace"><span style="background-color:#ff8888">A</span>AA (Lys)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>AA (stop)</span><br /> <span style="font-family: monospace"><span style="background-color:#ff8888">C</span>AA (Gln)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>AA (stop)</span><br /> <span style="font-family: monospace"><span style="background-color:#ff8888">G</span>AA (Glu)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>AA (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">C</span>A (Ser)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">A</span>A (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">U</span>A (Leu)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">A</span>A (stop)</span><br /> <span style="font-family: monospace">UA<span style="background-color:#ff8888">C</span> (Tyr)</span> → <span style="font-family: monospace">UA<span style="background-color:#ff8888">A</span> (stop)</span><br /> <span style="font-family: monospace">UA<span style="background-color:#ff8888">U</span> (Tyr)</span> → <span style="font-family: monospace">UA<span style="background-color:#ff8888">A</span> (stop)</span><br /> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r886049734"><span class="monospaced"> </span> </p> </td> <td> <p><span style="font-family: monospace"><span style="background-color:#ff8888">A</span>GA (Arg)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>GA (stop)</span><br /> <span style="font-family: monospace"><span style="background-color:#ff8888">C</span>GA (Arg)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>GA (stop)</span><br /> <span style="font-family: monospace"><span style="background-color:#ff8888">G</span>GA (Gly)</span> → <span style="font-family: monospace"><span style="background-color:#ff8888">U</span>GA (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">C</span>A (Ser)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">G</span>A (stop)</span><br /> <span style="font-family: monospace">U<span style="background-color:#ff8888">U</span>A (Leu)</span> → <span style="font-family: monospace">U<span style="background-color:#ff8888">G</span>A (stop)</span><br /> <span style="font-family: monospace">UG<span style="background-color:#ff8888">C</span> (Cys)</span> → <span style="font-family: monospace">UG<span style="background-color:#ff8888">A</span> (stop)</span><br /> <span style="font-family: monospace">UG<span style="background-color:#ff8888">G</span> (Trp)</span> → <span style="font-family: monospace">UG<span style="background-color:#ff8888">A</span> (stop)</span><br /> <span style="font-family: monospace">UG<span style="background-color:#ff8888">U</span> (Cys)</span> → <span style="font-family: monospace">UG<span style="background-color:#ff8888">A</span> (stop)</span> </p> </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Possible_outcomes">Possible outcomes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=2" title="Edit section: Possible outcomes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Deleterious">Deleterious</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=3" title="Edit section: Deleterious"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Deleterious outcomes represent the majority of nonsense mutations and are the most common outcome that is observed naturally. Deleterious nonsense mutations decreases the overall <a href="/wiki/Fitness_(biology)" title="Fitness (biology)">fitness</a> and <a href="/wiki/Reproductive_success" title="Reproductive success">reproductive success</a> of the <a href="/wiki/Organism" title="Organism">organism</a>.<sup id="cite_ref-:4_8-0" class="reference"><a href="#cite_note-:4-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> For example, a nonsense mutation occurring in a <a href="/wiki/Gene" title="Gene">gene</a> encoding a protein can cause structural or functional defects in the protein that disrupt <a href="/wiki/Cell_biology" title="Cell biology">cellular biology.</a> Depending on the significance of the functions of this protein, this disruption now could be detrimental to the fitness and survival of that organism.<sup id="cite_ref-:4_8-1" class="reference"><a href="#cite_note-:4-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Neutral">Neutral</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=4" title="Edit section: Neutral"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>When a nonsense mutation is neutral, it does not provide benefits or harm. These occur when the effects of the mutation are unnoticed. In other words, this means that the mutation does not positively or negatively affect the organism. As this effect is unnoticed, there is a lack of papers describing such mutations. An example of this type of nonsense mutation is one that occurs directly before the original stop codon for that given protein.<sup id="cite_ref-:4_8-2" class="reference"><a href="#cite_note-:4-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Because this mutation occurred in such close proximity to the end of the protein chain, the impact of this change might not be as significant. This would suggest that this amino acid that was mutated did not have a large impact on the overall structure or function of the protein or the organism as a whole. This scenario is rare, but possible.<sup id="cite_ref-:4_8-3" class="reference"><a href="#cite_note-:4-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Beneficial">Beneficial</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=5" title="Edit section: Beneficial"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Beneficial nonsense mutations are considered as the rarest of possible nonsense mutation outcomes. Beneficial nonsense mutations increase the overall fitness and reproductive success of an organism, opposite of the effects of a deleterious mutation.<sup id="cite_ref-:11_2-2" class="reference"><a href="#cite_note-:11-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:4_8-4" class="reference"><a href="#cite_note-:4-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Because a nonsense mutation introduces a premature stop codon within a sequence of DNA, it is extremely unlikely that this scenario can actually benefit the organism.<sup id="cite_ref-:1_1-2" class="reference"><a href="#cite_note-:1-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> An example of this would occur with a nonsense mutation that impacts a dysfunctional protein that releases <a href="/wiki/Toxin" title="Toxin">toxins</a>. The stop codon that this mutation brings would stop this dysfunctional protein from properly carrying out its function. Stopping this protein from performing at full strength causes less toxin to be released and the fitness of the organism to be improved. These types of situations with nonsense mutations occur a lot less frequently than the deleterious outcomes.<sup id="cite_ref-:4_8-5" class="reference"><a href="#cite_note-:4-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Suppressing_nonsense_mutations">Suppressing nonsense mutations</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=6" title="Edit section: Suppressing nonsense mutations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:Translation_with_and_without_nonsense_mutation.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/2/27/Translation_with_and_without_nonsense_mutation.jpg/286px-Translation_with_and_without_nonsense_mutation.jpg" decoding="async" width="286" height="200" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/2/27/Translation_with_and_without_nonsense_mutation.jpg/429px-Translation_with_and_without_nonsense_mutation.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/2/27/Translation_with_and_without_nonsense_mutation.jpg/572px-Translation_with_and_without_nonsense_mutation.jpg 2x" data-file-width="720" data-file-height="504" /></a><figcaption>Pictured on the left is a diagram of normal translation occurring without mutation. Blue circles are the peptides already translated while the grey circles are peptides going to be translated next. In the center is a diagram a nonsense mutation where the UUG codon is translated to the stop codon UAG. The stop codon recruits a release factor, terminating translation. On the right is a diagram of the tRNA suppression mechanism where the codon and the tRNA are both mutated, resulting in tRNA suppression. The mutated Tyr tRNA has the anticodon AUC which recognizes the UAG stop codon, continuing protein translation.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup></figcaption></figure> <p><b>Nonsense-mediated mRNA decay</b> </p><p>Despite an expected tendency for premature termination codons to yield shortened polypeptide products, in fact the formation of truncated proteins does not occur often <i><a href="/wiki/In_vivo" title="In vivo">in vivo</a></i>. Many organisms—including humans and lower species, such as <a href="/wiki/Yeast" title="Yeast">yeast</a>—employ a <a href="/wiki/Nonsense-mediated_mRNA_decay" class="mw-redirect" title="Nonsense-mediated mRNA decay">nonsense-mediated mRNA decay</a> pathway, which degrades mRNAs containing nonsense mutations before they are able to be translated into nonfunctional polypeptides. </p><p><b>tRNA Suppression</b> </p><p>Because nonsense mutations result in altered mRNA with a premature stop codon, one way of suppressing the damage done to the final protein's function is to alter the tRNA that reads the mRNA. These <a href="/wiki/Transfer_RNA" title="Transfer RNA">tRNA</a>’s are termed <a href="/wiki/Suppressor_tRNA" class="mw-redirect" title="Suppressor tRNA">suppressor tRNA's</a>. If the stop codon is UAG, any other amino acid tRNA could be altered from its original <a href="/wiki/Anticodon" class="mw-redirect" title="Anticodon">anticodon</a> to AUC so it will recognize the UAG codon instead. This will result in the protein not being truncated, but it may still have an altered amino acid. These suppressor tRNA mutations are only possible if the cell has more than one tRNA that reads a particular codon, otherwise the mutation would kill the cell. The only stop codons are UAG, UAA, and UGA. UAG and UAA suppressors read their respective stop codons instead of their original codon, but UAA suppressors also read UAG due to <a href="/wiki/Wobble_base_pair" title="Wobble base pair">wobble base</a> pairing. UGA suppressors are very rare. Another hurdle to pass in this technique is the fact that stop codons are also recognized by <a href="/wiki/Release_factor" title="Release factor">release factors</a>, so the tRNA still needs to compete with the release factors to keep the translation going. Because of this, suppression is usually only 10-40% successful. These suppressor tRNA mutations also target stop codons that are not mutations, causing some proteins to be much longer than they should be. Only bacteria and lower <a href="/wiki/Eukaryote" title="Eukaryote">eukaryotes</a> can survive with these mutations, mammal and insect cells die as a result of a suppressor mutation.<sup id="cite_ref-:2_4-1" class="reference"><a href="#cite_note-:2-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>For historical reasons the three stop codons were given names (see <a href="/wiki/Stop_codons" class="mw-redirect" title="Stop codons">Stop codons</a>): UAG is called the amber codon, UAA is called the ochre codon, and UGA is called the opal codon.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Common_disease-associated_nonsense_mutations">Common disease-associated nonsense mutations</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=7" title="Edit section: Common disease-associated nonsense mutations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/File:Notable_mutations.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/7/72/Notable_mutations.svg/300px-Notable_mutations.svg.png" decoding="async" width="300" height="178" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/72/Notable_mutations.svg/450px-Notable_mutations.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/72/Notable_mutations.svg/600px-Notable_mutations.svg.png 2x" data-file-width="2980" data-file-height="1764" /></a><figcaption>Selection of notable mutations, ordered in a standard table of the <a href="/wiki/Genetic_code" title="Genetic code">genetic code</a> of <a href="/wiki/Amino_acids" class="mw-redirect" title="Amino acids">amino acids</a>.<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> nonsense mutations are marked by red arrows.</figcaption></figure> <p>Nonsense mutations comprise around 20% of single nucleotide substitutions within protein coding sequences that result in human disease.<sup id="cite_ref-:0_12-0" class="reference"><a href="#cite_note-:0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Nonsense mutation-mediated <a href="/wiki/Pathology" title="Pathology">pathology</a> is often attributed to reduced amounts of full-length protein, because only 5-25% of transcripts possessing nonsense mutations do not undergo <a href="/wiki/Nonsense-mediated_decay" title="Nonsense-mediated decay">nonsense-mediated decay</a> (NMD).<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:0_12-1" class="reference"><a href="#cite_note-:0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Translation of the remaining nonsense-bearing mRNA may generate abbreviated protein variants with toxic effects.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p>Twenty-three different single-point nucleotide substitutions are capable of converting a non-stop codon into a stop-codon, with the mutations CGA<span class="mwe-math-element"><span class="mwe-math-mathml-inline mwe-math-mathml-a11y" style="display: none;"><math xmlns="http://www.w3.org/1998/Math/MathML" alttext="{\displaystyle \longrightarrow }"> <semantics> <mrow class="MJX-TeXAtom-ORD"> <mstyle displaystyle="true" scriptlevel="0"> <mo stretchy="false">⟶</mo> </mstyle> </mrow> <annotation encoding="application/x-tex">{\displaystyle \longrightarrow }</annotation> </semantics> </math></span><img src="https://wikimedia.org/api/rest_v1/media/math/render/svg/4ffb6a294b21bebe64570c4088d77a884dec95ab" class="mwe-math-fallback-image-inline mw-invert skin-invert" aria-hidden="true" style="vertical-align: -0.338ex; width:3.806ex; height:1.843ex;" alt="{\displaystyle \longrightarrow }"></span>TGA and CAG<span class="mwe-math-element"><span class="mwe-math-mathml-inline mwe-math-mathml-a11y" style="display: none;"><math xmlns="http://www.w3.org/1998/Math/MathML" alttext="{\displaystyle \longrightarrow }"> <semantics> <mrow class="MJX-TeXAtom-ORD"> <mstyle displaystyle="true" scriptlevel="0"> <mo stretchy="false">⟶</mo> </mstyle> </mrow> <annotation encoding="application/x-tex">{\displaystyle \longrightarrow }</annotation> </semantics> </math></span><img src="https://wikimedia.org/api/rest_v1/media/math/render/svg/4ffb6a294b21bebe64570c4088d77a884dec95ab" class="mwe-math-fallback-image-inline mw-invert skin-invert" aria-hidden="true" style="vertical-align: -0.338ex; width:3.806ex; height:1.843ex;" alt="{\displaystyle \longrightarrow }"></span>TAG being the most common disease-related substitutions characterized in the Human Gene Mutation Database (HGMD).<sup id="cite_ref-:0_12-2" class="reference"><a href="#cite_note-:0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> As a result of different substitution frequencies for each nucleotide, the proportions of the three stop codons generated by disease-inducing nonsense mutations differs from stop codon distributions in non-diseased gene variants.<sup id="cite_ref-:0_12-3" class="reference"><a href="#cite_note-:0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Notably, the codon TAG is overrepresented, while the TGA and TAA codons are underrepresented in disease-related nonsense mutations.<sup id="cite_ref-:0_12-4" class="reference"><a href="#cite_note-:0-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p><p>Translation termination efficiency is influenced by the specific stop codon sequence on the mRNA, with the UAA sequence yielding the highest termination.<sup id="cite_ref-:9_15-0" class="reference"><a href="#cite_note-:9-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Sequences surrounding the stop codon also impact termination efficiency.<sup id="cite_ref-:9_15-1" class="reference"><a href="#cite_note-:9-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Consequently, the underlying pathology of diseases caused by nonsense mutations is ultimately dependent on the identity of the mutated gene, and specific location of the mutation. </p><p>Examples of diseases induced by nonsense mutations include: </p> <ul><li><a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">Cystic fibrosis</a> (caused by the G542X mutation in the <a href="/wiki/Cystic_fibrosis_transmembrane_conductance_regulator" title="Cystic fibrosis transmembrane conductance regulator">cystic fibrosis transmembrane conductance regulator</a> (CFTR)</li> <li><a href="/wiki/Beta_thalassaemia" class="mw-redirect" title="Beta thalassaemia">Beta thalassaemia</a> (β-globin)</li> <li><a href="/wiki/Hurler_syndrome" title="Hurler syndrome">Hurler syndrome</a></li> <li><a href="/wiki/Dravet_syndrome" title="Dravet syndrome">Dravet syndrome</a></li> <li><a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome</a></li></ul> <p>Nonsense mutations in other genes may also drive dysfunction of several tissue or organ systems: </p><p><b>SMAD8</b> </p><p><a href="/wiki/SMAD8" class="mw-redirect" title="SMAD8">SMAD8</a> is the eighth homolog of the ENDOGLIN gene family and is involved in the signaling between <a href="/wiki/TGF_beta_signaling_pathway" title="TGF beta signaling pathway">TGF-b/BMP</a>. It has been identified that novel nonsense mutations in SMAD8 are associated with <a href="/wiki/Pulmonary_hypertension" title="Pulmonary hypertension">pulmonary arterial hypertension.</a><sup id="cite_ref-:6_16-0" class="reference"><a href="#cite_note-:6-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> The pulmonary system relies on SMAD1, SMAD5, and SMAD 8 to regulate pulmonary vascular function. <a href="/wiki/Down-regulation" class="mw-redirect" title="Down-regulation">Downregulation</a> and loss of signals that are normally operated by SMAD8 contributed to <a href="/wiki/Pathogenesis" title="Pathogenesis">pathogenesis</a> in pulmonary arterial hypertension.<sup id="cite_ref-:6_16-1" class="reference"><a href="#cite_note-:6-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/ACVRL1" title="ACVRL1">ALK1</a> gene, a part of the TGF-B signaling family, was found to have been mutated while also down-regulating the SMAD8 gene in patients with pulmonary arterial hypertension.<sup id="cite_ref-:6_16-2" class="reference"><a href="#cite_note-:6-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> SMAD8 mutants were not <a href="/wiki/Phosphorylation" title="Phosphorylation">phosphorylated</a> by ALK1, disrupting interactions with SMAD4 that would normally allow for signaling in <a href="/wiki/Wild_type" title="Wild type">wild-type</a> organisms.<sup id="cite_ref-:6_16-3" class="reference"><a href="#cite_note-:6-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="LGR4">LGR4</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=8" title="Edit section: LGR4"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/LGR4" title="LGR4">LGR4</a> binds <a href="/wiki/R-spondin_1" title="R-spondin 1">R-spondins</a> to activate the <a href="/wiki/Wnt_signaling_pathway" title="Wnt signaling pathway">Wnt signaling pathway</a>.<sup id="cite_ref-:5_17-0" class="reference"><a href="#cite_note-:5-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Wnt signaling regulates bone mass and <a href="/wiki/Osteoblast" title="Osteoblast">osteoblast</a> <a href="/wiki/Cellular_differentiation" title="Cellular differentiation">differentiation</a> and is important for the development of bone, heart, and muscle.<sup id="cite_ref-:5_17-1" class="reference"><a href="#cite_note-:5-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> An LGR4 nonsense mutation in a healthy population has been linked to low bone mass density and symptoms of <a href="/wiki/Osteoporosis" title="Osteoporosis">osteoporosis</a>. LGR4 <a href="/wiki/Mutant" title="Mutant">mutant</a> mice showed the observed low bone mass is not due to age-related bone loss.<sup id="cite_ref-:5_17-2" class="reference"><a href="#cite_note-:5-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Mutations in LGR4 have been associated with family lineages with medical histories of rare bone disorders.<sup id="cite_ref-:5_17-3" class="reference"><a href="#cite_note-:5-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Wild-type mice lacking LGR4 also displayed delayed <a href="/wiki/Osteoblast" title="Osteoblast">osteoblast</a> differentiation during development, showcasing the important role of LGR4 in bone mass regulation and development.<sup id="cite_ref-:5_17-4" class="reference"><a href="#cite_note-:5-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Therapeutics_targeting_nonsense_mutation_diseases">Therapeutics targeting nonsense mutation diseases</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=9" title="Edit section: Therapeutics targeting nonsense mutation diseases"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Therapeutics for diseases caused by nonsense mutations attempt to recapitulate wild-type function by decreasing the efficacy of NMD, facilitating readthrough of the premature stop codon during translation, or editing the genomic nonsense mutation.<sup id="cite_ref-:10_18-0" class="reference"><a href="#cite_note-:10-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Antisense_oligonucleotide" class="mw-redirect" title="Antisense oligonucleotide">Antisense oligonucleotides</a> to suppress the expression of NMD and translation termination proteins are being explored in animal models of nonsense mutation-induced disease.<sup id="cite_ref-:10_18-1" class="reference"><a href="#cite_note-:10-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> Other RNA therapeutics under investigation include synthetic suppressor tRNAs that enable <a href="/wiki/Ribosome" title="Ribosome">ribosomes</a> to insert an amino acid, instead of initiating chain termination, upon encountering premature stop codons.<sup id="cite_ref-:10_18-2" class="reference"><a href="#cite_note-:10-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/CRISPR_gene_editing" title="CRISPR gene editing">CRISPR-Cas9</a> based single nucleotide substitutions have been used to generate amino acid codons from stop codons, achieving an editing success rate of 10% in cell cultures.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>Read-through has been achieved using small molecule drugs such as <a href="/wiki/Aminoglycoside" title="Aminoglycoside">aminoglycosides</a> and negamycin.<sup id="cite_ref-:10_18-3" class="reference"><a href="#cite_note-:10-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> An <a href="/wiki/Oxadiazole" title="Oxadiazole">oxadiazole</a>, <a href="/wiki/Ataluren" title="Ataluren">ataluren</a> (previously PTC124), facilitates the selective read-through of aberrant stop codons, rendering it a potential therapeutic against nonsense mutation-induced disease.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Ataluren, sold under the tradename Translarna, is currently an approved treatment for Duchenne muscular dystrophy in the <a href="/wiki/European_Economic_Area" title="European Economic Area">European Economic area</a> and <a href="/wiki/Brazil" title="Brazil">Brazil</a>.<sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:7_23-0" class="reference"><a href="#cite_note-:7-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> However, phase III trials of Ataluren as a cystic fibrosis therapeutic have failed to meet their primary endpoints.<sup id="cite_ref-:8_24-0" class="reference"><a href="#cite_note-:8-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=10" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Emily%27s_Entourage" title="Emily's Entourage">Emily's Entourage</a>, a cystic fibrosis nonprofit researching nonsense mutations</li> <li><a href="/wiki/Missense_mRNA" title="Missense mRNA">Missense mRNA</a></li> <li><a href="/wiki/Nonsense_suppressor" title="Nonsense suppressor">Nonsense suppressor</a></li> <li><a href="/wiki/Protein-truncating_variants" title="Protein-truncating variants">Protein-truncating variants</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links_and_references">External links and references</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=11" title="Edit section: External links and references"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-:1-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-:1_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:1_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:1_1-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFSharmaKeelingRowe2020" class="citation journal cs1">Sharma, Jyoti; Keeling, Kim M.; Rowe, Steven M. 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Retrieved <span class="nowrap">2022-12-01</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Pharmaceutical+Technology&rft.atitle=ANVISA+approves+PTC+Translarna+indication+expansion+to+ambulatory+children&rft.date=2021-10-26&rft_id=https%3A%2F%2Fwww.pharmaceutical-technology.com%2Fnews%2Fanvisa-ptc-translarna-indication-children%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsense+mutation" class="Z3988"></span></span> </li> <li id="cite_note-:8-24"><span class="mw-cite-backlink"><b><a href="#cite_ref-:8_24-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKeremKonstanDe_BoeckAccurso2014" class="citation journal cs1">Kerem, Eitan; Konstan, Michael W; De Boeck, Kris; Accurso, Frank J; Sermet-Gaudelus, Isabelle; Wilschanski, Michael; Elborn, J Stuart; Melotti, Paola; Bronsveld, Inez (2014-07-01). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154311">"Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial"</a>. <i>The Lancet Respiratory Medicine</i>. <b>2</b> (7): 539–547. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FS2213-2600%2814%2970100-6">10.1016/S2213-2600(14)70100-6</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154311">4154311</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/24836205">24836205</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Lancet+Respiratory+Medicine&rft.atitle=Ataluren+for+the+treatment+of+nonsense-mutation+cystic+fibrosis%3A+a+randomised%2C+double-blind%2C+placebo-controlled+phase+3+trial&rft.volume=2&rft.issue=7&rft.pages=539-547&rft.date=2014-07-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4154311%23id-name%3DPMC&rft_id=info%3Apmid%2F24836205&rft_id=info%3Adoi%2F10.1016%2FS2213-2600%2814%2970100-6&rft.aulast=Kerem&rft.aufirst=Eitan&rft.au=Konstan%2C+Michael+W&rft.au=De+Boeck%2C+Kris&rft.au=Accurso%2C+Frank+J&rft.au=Sermet-Gaudelus%2C+Isabelle&rft.au=Wilschanski%2C+Michael&rft.au=Elborn%2C+J+Stuart&rft.au=Melotti%2C+Paola&rft.au=Bronsveld%2C+Inez&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4154311&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsense+mutation" class="Z3988"></span></span> </li> <li id="cite_note-25"><span class="mw-cite-backlink"><b><a href="#cite_ref-25">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKonstanVanDevanterRoweWilschanski2020" class="citation journal cs1">Konstan, M. W.; VanDevanter, D. R.; Rowe, S. M.; Wilschanski, M.; Kerem, E.; Sermet-Gaudelus, I.; DiMango, E.; Melotti, P.; McIntosh, J.; De Boeck, K.; ACT CF Study Group (July 2020). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167581">"Efficacy and safety of ataluren in patients with nonsense-mutation cystic fibrosis not receiving chronic inhaled aminoglycosides: The international, randomized, double-blind, placebo-controlled Ataluren Confirmatory Trial in Cystic Fibrosis (ACT CF)"</a>. <i>Journal of Cystic Fibrosis</i>. <b>19</b> (4): 595–601. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.jcf.2020.01.007">10.1016/j.jcf.2020.01.007</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167581">9167581</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/31983658">31983658</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Cystic+Fibrosis&rft.atitle=Efficacy+and+safety+of+ataluren+in+patients+with+nonsense-mutation+cystic+fibrosis+not+receiving+chronic+inhaled+aminoglycosides%3A+The+international%2C+randomized%2C+double-blind%2C+placebo-controlled+Ataluren+Confirmatory+Trial+in+Cystic+Fibrosis+%28ACT+CF%29&rft.volume=19&rft.issue=4&rft.pages=595-601&rft.date=2020-07&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC9167581%23id-name%3DPMC&rft_id=info%3Apmid%2F31983658&rft_id=info%3Adoi%2F10.1016%2Fj.jcf.2020.01.007&rft.aulast=Konstan&rft.aufirst=M.+W.&rft.au=VanDevanter%2C+D.+R.&rft.au=Rowe%2C+S.+M.&rft.au=Wilschanski%2C+M.&rft.au=Kerem%2C+E.&rft.au=Sermet-Gaudelus%2C+I.&rft.au=DiMango%2C+E.&rft.au=Melotti%2C+P.&rft.au=McIntosh%2C+J.&rft.au=De+Boeck%2C+K.&rft.au=ACT+CF+Study+Group&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC9167581&rfr_id=info%3Asid%2Fen.wikipedia.org%3ANonsense+mutation" class="Z3988"></span></span> </li> </ol></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Nonsense_mutation&action=edit&section=12" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="https://www.nonsensemutations.org/">Nonsense mutation foundation</a>, supporting nonsense mutation patients across all genes</li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output 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(genetics)">Transition</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Mutation with respect to structure</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Point_mutation" title="Point mutation">Point mutation</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a class="mw-selflink selflink">Nonsense mutation</a></li> <li><a href="/wiki/Missense_mutation" title="Missense mutation">Missense mutation</a></li> <li><a href="/wiki/Conservative_mutation" class="mw-redirect" title="Conservative mutation">Conservative mutation</a></li> <li><a href="/wiki/Silent_mutation" title="Silent mutation">Silent mutation</a></li> <li><a href="/wiki/Frameshift_mutation" title="Frameshift mutation">Frameshift mutation</a></li> <li><a href="/wiki/Dynamic_mutation" title="Dynamic mutation">Dynamic mutation</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Large-scale mutation</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Chromosomal_translocation" title="Chromosomal translocation">Chromosomal translocations</a></li> <li><a href="/wiki/Chromosomal_inversion" title="Chromosomal inversion">Chromosomal inversions</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Mutation with respect to overall fitness</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Mutation#By_effect_on_fitness" title="Mutation">Deleterious mutation</a></li> <li><a href="/wiki/Mutation#By_effect_on_fitness" title="Mutation">Advantageous mutation</a></li> <li><a href="/wiki/Neutral_mutation" title="Neutral mutation">Neutral mutation</a></li> <li><a href="/wiki/Mutation#By_effect_on_fitness" title="Mutation">Nearly neutral mutation</a></li> <li><a href="/wiki/Synonymous_substitution" title="Synonymous substitution">Synonymous mutation</a></li> <li><a href="/wiki/Nonsynonymous_substitution" title="Nonsynonymous substitution">Nonsynonymous mutation</a></li></ul> </div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" 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