Reduced Activity of SRY and its Target Enhancer Sox9-TESCO in a Mouse Species with X*Y Sex Reversal
Identifieur interne : 000865 ( Pmc/Curation ); précédent : 000864; suivant : 000866Reduced Activity of SRY and its Target Enhancer Sox9-TESCO in a Mouse Species with X*Y Sex Reversal
Auteurs : Liang Zhao [Australie] ; Alexander Quinn [Australie] ; Ee Ting Ng [Australie] ; Frederic Veyrunes [France] ; Peter Koopman [Australie]Source :
- Scientific Reports [ 2045-2322 ] ; 2017.
Abstract
In most eutherian mammals, sex determination is governed by the Y-linked gene
Url:
DOI: 10.1038/srep41378
PubMed: 28155866
PubMed Central: 5290746
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Reduced Activity of SRY and its Target Enhancer <italic>Sox9</italic>-TESCO in a Mouse Species with X*Y Sex Reversal</title><author><name sortKey="Zhao, Liang" sort="Zhao, Liang" uniqKey="Zhao L" first="Liang" last="Zhao">Liang Zhao</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Quinn, Alexander" sort="Quinn, Alexander" uniqKey="Quinn A" first="Alexander" last="Quinn">Alexander Quinn</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ng, Ee Ting" sort="Ng, Ee Ting" uniqKey="Ng E" first="Ee Ting" last="Ng">Ee Ting Ng</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Veyrunes, Frederic" sort="Veyrunes, Frederic" uniqKey="Veyrunes F" first="Frederic" last="Veyrunes">Frederic Veyrunes</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Institut des Sciences de l’Evolution de Montpellier, Université Montpellier II</institution>, CNRS, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Koopman, Peter" sort="Koopman, Peter" uniqKey="Koopman P" first="Peter" last="Koopman">Peter Koopman</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28155866</idno><idno type="pmc">5290746</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290746</idno><idno type="RBID">PMC:5290746</idno><idno type="doi">10.1038/srep41378</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">000866</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000866</idno><idno type="wicri:Area/Pmc/Curation">000865</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000865</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Reduced Activity of SRY and its Target Enhancer <italic>Sox9</italic>-TESCO in a Mouse Species with X*Y Sex Reversal</title><author><name sortKey="Zhao, Liang" sort="Zhao, Liang" uniqKey="Zhao L" first="Liang" last="Zhao">Liang Zhao</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Quinn, Alexander" sort="Quinn, Alexander" uniqKey="Quinn A" first="Alexander" last="Quinn">Alexander Quinn</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Ng, Ee Ting" sort="Ng, Ee Ting" uniqKey="Ng E" first="Ee Ting" last="Ng">Ee Ting Ng</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Veyrunes, Frederic" sort="Veyrunes, Frederic" uniqKey="Veyrunes F" first="Frederic" last="Veyrunes">Frederic Veyrunes</name><affiliation wicri:level="1"><nlm:aff id="a2"><institution>Institut des Sciences de l’Evolution de Montpellier, Université Montpellier II</institution>, CNRS, Montpellier,<country>France</country></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author><author><name sortKey="Koopman, Peter" sort="Koopman, Peter" uniqKey="Koopman P" first="Peter" last="Koopman">Peter Koopman</name><affiliation wicri:level="1"><nlm:aff id="a1"><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea># see nlm:aff country strict</wicri:regionArea></affiliation></author></analytic><series><title level="j">Scientific Reports</title><idno type="eISSN">2045-2322</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>In most eutherian mammals, sex determination is governed by the Y-linked gene <italic>Sry,</italic> but in African pygmy mice <italic>Mus minutoides, Sry</italic> action is overridden by a variant X chromosome (X*), yielding X*Y females. We hypothesized that X*Y sex reversal may be underpinned not only by neomorphic X chromosome functionality, but also by a compromised <italic>Sry</italic> pathway. Here, we show that neither <italic>M. minutoides</italic> SRY nor its target, the <italic>Sox9-</italic>TESCO enhancer, had appreciable transcriptional activity in <italic>in vitro</italic> assays, correlating with sequence degradation compared to <italic>Mus musculus</italic> counterparts. However, <italic>M. minutoides</italic> SRY activated its cognate TESCO to a moderate degree, and can clearly engage the male pathway in <italic>M. minutoides</italic> in the wild, indicating that SRY and TESCO may have co-evolved in <italic>M. minutoides</italic> to retain function above a threshold level. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Sci Rep</journal-id><journal-id journal-id-type="iso-abbrev">Sci Rep</journal-id><journal-title-group><journal-title>Scientific Reports</journal-title></journal-title-group><issn pub-type="epub">2045-2322</issn><publisher><publisher-name>Nature Publishing Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28155866</article-id><article-id pub-id-type="pmc">5290746</article-id><article-id pub-id-type="pii">srep41378</article-id><article-id pub-id-type="doi">10.1038/srep41378</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Reduced Activity of SRY and its Target Enhancer <italic>Sox9</italic>-TESCO in a Mouse Species with X*Y Sex Reversal</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Liang</given-names></name><xref ref-type="aff" rid="a1">1</xref></contrib><contrib contrib-type="author"><name><surname>Quinn</surname><given-names>Alexander</given-names></name><xref ref-type="aff" rid="a1">1</xref></contrib><contrib contrib-type="author"><name><surname>Ng</surname><given-names>Ee Ting</given-names></name><xref ref-type="aff" rid="a1">1</xref></contrib><contrib contrib-type="author"><name><surname>Veyrunes</surname><given-names>Frederic</given-names></name><xref ref-type="aff" rid="a2">2</xref></contrib><contrib contrib-type="author"><name><surname>Koopman</surname><given-names>Peter</given-names></name><xref ref-type="corresp" rid="c1">a</xref><xref ref-type="aff" rid="a1">1</xref></contrib><aff id="a1"><label>1</label><institution>Institute for Molecular Bioscience, The University of Queensland</institution>, Brisbane, QLD 4072,<country>Australia</country></aff><aff id="a2"><label>2</label><institution>Institut des Sciences de l’Evolution de Montpellier, Université Montpellier II</institution>, CNRS, Montpellier,<country>France</country></aff></contrib-group><author-notes><corresp id="c1"><label>a</label><email>p.koopman@imb.uq.edu.au</email></corresp></author-notes><pub-date pub-type="epub"><day>03</day><month>02</month><year>2017</year></pub-date><pub-date pub-type="collection"><year>2017</year></pub-date><volume>7</volume><elocation-id>41378</elocation-id><history><date date-type="received"><day>11</day><month>08</month><year>2016</year></date><date date-type="accepted"><day>20</day><month>12</month><year>2016</year></date></history><permissions><copyright-statement>Copyright © 2017, The Author(s)</copyright-statement><copyright-year>2017</copyright-year><copyright-holder>The Author(s)</copyright-holder><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/4.0/"><pmc-comment>author-paid</pmc-comment>
<license-p>This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit <ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link></license-p></license></permissions><abstract><p>In most eutherian mammals, sex determination is governed by the Y-linked gene <italic>Sry,</italic> but in African pygmy mice <italic>Mus minutoides, Sry</italic> action is overridden by a variant X chromosome (X*), yielding X*Y females. We hypothesized that X*Y sex reversal may be underpinned not only by neomorphic X chromosome functionality, but also by a compromised <italic>Sry</italic> pathway. Here, we show that neither <italic>M. minutoides</italic> SRY nor its target, the <italic>Sox9-</italic>TESCO enhancer, had appreciable transcriptional activity in <italic>in vitro</italic> assays, correlating with sequence degradation compared to <italic>Mus musculus</italic> counterparts. However, <italic>M. minutoides</italic> SRY activated its cognate TESCO to a moderate degree, and can clearly engage the male pathway in <italic>M. minutoides</italic> in the wild, indicating that SRY and TESCO may have co-evolved in <italic>M. minutoides</italic> to retain function above a threshold level. We suggest that weakening of the SRY/TESCO nexus may have facilitated the rise and spread of a variant X* chromosome carrying female-inducing modifier gene(s).</p></abstract></article-meta></front><floats-group><fig id="f1"><label>Figure 1</label><caption><title><italic>M. minutoides</italic> SRY has a degraded C-terminal polyQ tract.</title><p>(<bold>a</bold>) PCR amplification of the full-length <italic>Sry</italic> coding region from <italic>M. minutoides</italic> or <italic>M. mattheyi</italic>. An <italic>M. musculus</italic> sample was included as a control. (<bold>b</bold>) Schematic of SRY proteins from three <italic>Mus</italic> species: <italic>M. musculus</italic> (musSRY), <italic>M. mattheyi</italic> (matSRY), and <italic>M. minutoides</italic> (minSRY). Brg, bridge domain. Numbers indicate the sequence identity scores compared to the same domain of musSRY. (<bold>c</bold>) Alignment of the deduced amino acid sequences of the C-terminal polyQ tract of SRY from the three <italic>Mus</italic> species. Glutamine blocks are highlighted in grey.</p></caption><graphic xlink:href="srep41378-f1"></graphic></fig><fig id="f2"><label>Figure 2</label><caption><title>The degraded polyQ tract in <italic>M. minutoides</italic> SRY does not compromise protein stability.</title><p>(<bold>a</bold>) Schematic of EGFP-tagged matSRY and minSRY proteins (g-matSRY and g-minSRY, respectively). EGFP-tagged musSRY (g-musSRY) and musSRY lacking the polyQ domain (g-musSRYΔQ) are also shown here for comparison. (<bold>b</bold>) Both g-minSRY and g-matSRY were detected in 15P-1 stable cell lines by Western blotting using an anti–EGFP antibody. g-musSRY and g-musSRYΔQ were included as positive and negative controls, respectively. Predicted molecular weight: g-musSRY, 77.1 kDa; g-musSRY ΔQ, 47.9 kDa; g-minSRY, 50.7 kDa; g-matSRY, 59.9 kDa. A blot using anti–α-Tubulin served as loading control. Full-length blots are presented in <xref ref-type="supplementary-material" rid="S1">Supplementary Fig. S15</xref>. (<bold>c</bold>) Both g-matSRY and g-minSRY were detected in the nuclei of 15P-1 cells by immunofluorescence using an anti–EGFP antibody. g-musSRY and g-musSRYΔQ were included as positive and negative controls, respectively.</p></caption><graphic xlink:href="srep41378-f2"></graphic></fig><fig id="f3"><label>Figure 3</label><caption><title><italic>M. minutoides</italic> SRY fails to activate the <italic>M. musculus</italic> TESCO reporter due to the degeneration of its C-terminal polyQ tract.</title><p>(<bold>a</bold>) minSRY, unlike musSRY and matSRY, failed to synergize with musSF1 to activate a luciferase construct containing <italic>M. musculus</italic> TESCO (compare green arrows). (<bold>b</bold>) Similar to minSRY, the musHBminQ mutant failed to activate musTESCO-Luc in the presence of musSF1 (compare orange arrows), whereas the mutant minHBmusQ restored the transactivation ability to that of musSRY (compare blue arrows). The luciferase activity of musTESCO co-transfected with the empty vector in the absence of SF1 was set to 1. SRY constructs do not activate TESCO in the absence of SF1, and thus the −SF1 data essentially showed unchanged base level activities of the musTESCO-Luc reporter. Therefore, for simplicity, only the + SF1 data are presented here, as mean ± s.e.m (n = 3). Dashed lines indicate the level of baseline (empty vector + SF1). (**) <italic>P</italic> < 0.01 vs. empty vector, or as indicated, one-way repeated measures ANOVA with Holm-Sidak multiple comparisons test. ns, not significant.</p></caption><graphic xlink:href="srep41378-f3"></graphic></fig><fig id="f4"><label>Figure 4</label><caption><title>Markedly reduced enhancer activity of TESCO in <italic>M. mattheyi</italic> and <italic>M. minutoides</italic>.</title><p>(<bold>a</bold>) Maximum likelihood phylogeny using TESCO sequences. Numbers indicate percent sequence identity scores compared to musTESCO. (<bold>b</bold>) Schematic of TESCO enhancers from three <italic>Mus</italic> species. R4-6, SRY binding sites; F1-6, SF1 binding sites; Ei-v, evolutionarily conserved regions; V1-3, sequence variations between minTESCO a and b. Sequence changes at sites F1-4 may impair SF1 binding and are indicated with different colours. The F3 site predicted to have SF1 binding disrupted is removed from the matTESCO diagram. (<bold>c</bold>) Sequence comparison of F1-4 sites from the three species, and the mutants musTESCO.mut1/2. Sequence changes compared with musTESCO are in red and mutated sequences are underlined. Compared with musTESCO, mat/minTESCO showed markedly reduced activities in the presence of musSF1. Mutations of SF1 binding sites F1-4 in musTESCO to the corresponding sequence in matTESCO (musTESCO.mut1) or minTESCO (musTESCO.mut2) caused mildly reduced reporter activities in the presence of musSF1. Data are presented as TESCO luciferase activity normalized to co-transfected CMV-renilla luciferase activity. Error bars: s.e.m. (<italic>n</italic> = 3). Dashed lines indicate the levels of musTESCO activity. (**) <italic>P</italic> < 0.01 vs. musTESCO, one-way repeated measures ANOVA with Dunnett’s multiple comparisons test.</p></caption><graphic xlink:href="srep41378-f4"></graphic></fig><fig id="f5"><label>Figure 5</label><caption><title>Sequence variations at the V3 site between two haplotypes of <italic>M. minutoides</italic> TESCO results in reduced enhancer activity.</title><p>(<bold>a</bold>) Sequence comparison of V1-3 between minTESCO haplotypes a and b. Sequence changes between the two haplotypes are in red. Mutated bases in minTESCO.b.mut are underlined. (<bold>b</bold>) Compared with minTESCO.a, minTESCO.b had its transcriptional activity (in the presence of musSF1) halved. minTESCO.b.mut with V3 site mutated to the corresponding sequence in minTESCO.a showed fully restored reporter activity in the presence of musSF1. Data are presented as TESCO luciferase activity normalized to co-transfected CMV-renilla luciferase activity. Error bars: s.e.m. (<italic>n</italic> = 3). (**) <italic>P</italic> < 0.01, one-way repeated measures ANOVA with Dunnett’s multiple comparisons test. ns, not significant.</p></caption><graphic xlink:href="srep41378-f5"></graphic></fig><fig id="f6"><label>Figure 6</label><caption><title>Co-evolution of <italic>Sry</italic> and TESCO in <italic>M. minutoides</italic>.</title><p>(<bold>a</bold>,<bold>b</bold>) minSRY activated minTESCO.a/b in the presence of musSF1 (compare green arrows), albeit more weakly than musSRY and matSRY. (<bold>c</bold>,<bold>d</bold>) minSRY significantly outperformed musHBminQ in activating both minTESCO.a/b reporters (compare orange arrows). Conversely, minHBmusQ mutant significantly outperformed musSRY (compare blue arrows). The luciferase activity of each luciferase reporter co-transfected with the empty vector in the absence of SF1 was set to 1. SRY constructs do not activate TESCO in the absence of SF1, and thus the −SF1 data essentially showed unchanged base level activities of TESCO-Luc reporter. Therefore, for simplicity, only the + SF1 data are presented here as mean ± s.e.m (n = 3). Dashed lines indicate the levels of baseline (empty vector + musSF1) or synergistic activation by musSRY + musSF1. (*) <italic>P</italic> < 0.05, (**) <italic>P</italic> < 0.01 vs. empty vector, or as indicated, one-way repeated measures ANOVA with Holm-Sidak multiple comparisons test. ns, not significant.</p></caption><graphic xlink:href="srep41378-f6"></graphic></fig><fig id="f7"><label>Figure 7</label><caption><title>A model for the evolution of the atypical sex determination system in <italic>M. minutoides</italic>.</title><p>In a common ancestor to <italic>M. mattheyi</italic> and <italic>M. minutoides</italic>, multiple sequence variations within TESCO occurred. This first strike significantly reduced the basal transcriptional activity of TESCO and attenuated its response to SF1. Subsequently, a second strike hit <italic>Sry</italic> in an ancestor to <italic>M. minutoides</italic>, causing a severe degradation of its polyQ tract. Such a degenerated SRY retains only weak capacity to activate TESCO and <italic>Sox9</italic> expression. Together, these genetic events have rendered the male sex-determining pathway vulnerable in <italic>M. minutoides</italic>, which may have facilitated the invasion and subsequent spread of the X* chromosome (and feminising modifier(s) thereon). The presence of X* chromosome in X*Y individuals overwrites the fragile male sex-determining pathway and leads to female sex reversal.</p></caption><graphic xlink:href="srep41378-f7"></graphic></fig><table-wrap position="float" id="t1"><label>Table 1</label><caption><title>Multiple <italic>Sry</italic> copies are present in <italic>M. minutoides</italic> and <italic>M. mattheyi</italic>.</title></caption><table frame="hsides" rules="groups" border="1"><colgroup><col align="left"></col><col align="center"></col><col align="center"></col><col align="center"></col></colgroup><thead valign="bottom"><tr><th align="left" valign="top" charoff="50">Clone #</th><th align="center" valign="top" charoff="50">Haplotype</th><th align="center" valign="top" charoff="50"><italic>Sry</italic> DNA sequence variation</th><th align="center" valign="top" charoff="50">SRY protein sequence variation</th></tr></thead><tbody valign="top"><tr><td colspan="4" align="left" valign="top" charoff="50"><italic>M. minutoides</italic></td></tr><tr><td align="left" valign="top" charoff="50">1</td><td align="center" valign="top" charoff="50">a</td><td align="center" valign="top" charoff="50">c.514_534del</td><td align="center" valign="top" charoff="50">p.(E170_Q176del) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">2</td><td align="center" valign="top" charoff="50">a</td><td align="center" valign="top" charoff="50">c.514_534del</td><td align="center" valign="top" charoff="50">p.(E170_Q176del) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">3</td><td align="center" valign="top" charoff="50">b</td><td align="center" valign="top" charoff="50">c.[352A > G; 613_615del]</td><td align="center" valign="top" charoff="50">p.(T118A) in the bridge domain</td></tr><tr><td align="left" valign="top" charoff="50">4</td><td align="center" valign="top" charoff="50">c</td><td align="center" valign="top" charoff="50">c.[51T > C; 410A > G; 573T > C]</td><td align="center" valign="top" charoff="50">p.(D137G) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">5</td><td align="center" valign="top" charoff="50">d</td><td align="center" valign="top" charoff="50">Same as the consensus</td><td align="center" valign="top" charoff="50">Same as the consensus</td></tr><tr><td align="left" valign="top" charoff="50">6</td><td align="center" valign="top" charoff="50">e</td><td align="center" valign="top" charoff="50">c.316A > G</td><td align="center" valign="top" charoff="50">p.(R106G) in the bridge domain</td></tr><tr><td align="left" valign="top" charoff="50">7<sup>a</sup></td><td align="center" valign="top" charoff="50">d</td><td align="center" valign="top" charoff="50">Same as the consensus</td><td align="center" valign="top" charoff="50">Same as the consensus</td></tr><tr><td align="left" valign="top" charoff="50">8</td><td align="center" valign="top" charoff="50">d</td><td align="center" valign="top" charoff="50">Same as the consensus</td><td align="center" valign="top" charoff="50">Same as the consensus</td></tr><tr><td colspan="4" align="left" valign="top" charoff="50"><italic>M. mattheyi</italic></td></tr><tr><td align="left" valign="top" charoff="50">1</td><td align="center" valign="top" charoff="50">a</td><td align="center" valign="top" charoff="50">c.971_973del</td><td align="center" valign="top" charoff="50">Same as the consensus</td></tr><tr><td align="left" valign="top" charoff="50">2</td><td align="center" valign="top" charoff="50">b</td><td align="center" valign="top" charoff="50">c.562_564del</td><td align="center" valign="top" charoff="50">p.(Q188del) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">3</td><td align="center" valign="top" charoff="50">c</td><td align="center" valign="top" charoff="50">c.503_574del</td><td align="center" valign="top" charoff="50">p.(Q172_Q195del) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">4<sup>a</sup></td><td align="center" valign="top" charoff="50">d</td><td align="center" valign="top" charoff="50">Same as the consensus</td><td align="center" valign="top" charoff="50">Same as the consensus</td></tr><tr><td align="left" valign="top" charoff="50">5</td><td align="center" valign="top" charoff="50">b</td><td align="center" valign="top" charoff="50">c.562_564del</td><td align="center" valign="top" charoff="50">p.(Q188del) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">6</td><td align="center" valign="top" charoff="50">e</td><td align="center" valign="top" charoff="50">c.503A > G</td><td align="center" valign="top" charoff="50">p.(H168R) in the polyQ domain</td></tr><tr><td align="left" valign="top" charoff="50">7</td><td align="center" valign="top" charoff="50">f</td><td align="center" valign="top" charoff="50">c.787C > T</td><td align="center" valign="top" charoff="50">Same as the consensus</td></tr><tr><td align="left" valign="top" charoff="50">8</td><td align="center" valign="top" charoff="50">g</td><td align="center" valign="top" charoff="50">c.451C > T</td><td align="center" valign="top" charoff="50">p.(Q150*); almost complete truncation of the polyQ domain</td></tr></tbody></table><table-wrap-foot><fn id="t1-fn1"><p><sup>a</sup>Reference clones used in cross-species sequence comparisons and subsequent experimental analyses.</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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