Name: sox10 and multiple traits in pleiotropy
Uploaded: 2019-03-11T09:21:17.000Z
Duration: 1 min 33 s
Channel: JoVE

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Heredity- Inheritance and Variation of Traits

LS.Bio.7.3

Pleiotropy

Pendant la pléiotropie,un gène influence plusieurs phénotypes uniques. 
Par exemple, chez l'homme, une copie anormale du gène SOX10,avec une région supprimée, peut causerchez des personnes d'avoir un avant-bras blanc,des iris de couleurs différenteset des régions de peau non pigmentée. 
Ainsi, ce gène peut affecter les phénotypes des cheveux,des yeux et de la peau. 
Ces traits atypiques sont les symptômesd'un trouble plus importantappelé syndrome de Waardenburg de type 4, en abrégé WS4. 
Cependant, le rôle de SOX10 ne se limite pasà la pigmentation car le gros intestindes patients WS4 manque de composants du système nerveuxqui contrôlent les contractions intestinales. 
Par conséquent, les blocages des déchets etl'hypertrophie du côlon est caractéristique du WS4. 
SOX10 forme également le phénotype intestinal. 
Il est important de noter,son expression au cours du développement précocepeut expliquer les effets de ce gène,car son produit se retrouve dansla formation de cellules pigmentaireset de certains tissus nerveux. 
C'est intéressant,la protéine SOX10 est également observéedans les composants de la future oreille,suggérant que ce gène contribue à d'autres phénotypes. 
Une hypothèse étayée par les déficiences auditiveset la surdité qui accompagnent occasionnellement le WS4. 
Parfois, plusieurs traits de caractère associés à un troublerésultent d'un gène pléiotropique individuel.

Lango Allen, Hana, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, et al. « Des centaines de variantes regroupées dans des locus génomiques et des voies biologiques affectent la taille humaine ». Nature 467, n° 7317 (14 octobre 2010) : 832-38. [<a href="https://doi.org/10.1038/nature09410 » target="__blank">Source</a>]

Mendenhall, Gordon, Thomas Mertens et Jon Hendrix. « Fingerprint Ridge Count : un trait polygénique utile dans l’enseignement en classe ». The American Biology Teacher 51, n° 4 (1er avril 1989) : 203-7. [<a href="https://doi.org/10.2307/4448904 » target="__blank">Source</a>]

pléiotropie

La pléiotropie est un phénomène dans lequel un seul gène a un impact sur des traits phénotypiques multiples, apparemment sans rapport. Par exemple, les défauts du gène SOX10 causent le syndrome de Waardenburg de type 4, ou WS4, qui peut provoquer des défauts de pigmentation, des déficiences auditives et l’absence de contractions intestinales nécessaires pour l’élimination. Cette diversité de phénotypes résulte du modèle d’expression de SOX10 dans le développement embryonnaire et fœtal précoce. SOX10 se trouve dans les cellules de crête neurale formant des mélanocytes, qui sont impliqués dans la pigmentation et aussi dans le développement précoce de l’oreille. SOX10 est également exprimé dans le tissu nerveux contribuant éventuellement au système nerveux entérique dans l’intestin, qui contrôle les contractions nécessaires à l’élimination des déchets. De cette façon, SOX10 présente des effets pléiotropes, parce qu’il influence plusieurs phénotypes.
 
 <h4>Les effets pléiotropes de SOX10</h4>
 
 La pléiotropie peut survenir par le biais de plusieurs mécanismes. La pléiotropie génétique se produit lorsqu’un gène possède diverses fonctions en raison de l’encodage d’un produit qui interagit avec plusieurs protéines ou catalyse plusieurs réactions. Par exemple, chez l’homme, une copie anormale du gène SOX10, dans laquelle une région est supprimée, peut entraîner des défauts de développement qui comprennent un toupet blanc, des iris de différentes couleurs (p. ex. un bleu et un brun) et des régions de peau non pigmentée. Ces traits sont tous des symptômes d’un trouble appelé syndrome de Waardenburg de type 4, ou WS4, un trouble récessif autosomique qui entraîne de multiples défauts de pigmentation. Les effets pléiotropes de SOX10 dans WS4 s’étendent vers des symptômes supplémentaires apparemment sans rapport avec la pigmentation, tels que la perte auditive. Les personnes atteintes de WS4 souffrent également d’un manque de contractions intestinales, ce qui entraîne une hypertrophie du côlon et des difficultés à éliminer les déchets. Ces symptômes indiquent que, en plus d’affecter la pigmentation, SOX10 affecte également l’audition et contribue à un phénotype anormal de l’intestin.
 
 <h4>Modèles d’expression au début du développement</h4>
 
 La capacité de SOX10 à exercer ses effets pléiotropes peut s’expliquer par son expression dans le développement embryonnaire et fœtal précoce, au cours duquel il se trouve dans les cellules de crête neurale qui conduisent finalement à la formation de cellules pigmentaires appelées mélanocytes. En plus de la pigmentation, les mélanocytes influencent l’audition, puisqu’on les trouve dans l’oreille en formation. SOX10 est également exprimé dans les cellules ganglionnaires de l’intestin postérieur terminal qui contribuent à la formation du tractus gastro-intestinal et contrôlent les contractions intestinales. Cela explique les problèmes d’élimination et les colons hypertrophiés chez certains individus WS4. Par conséquent, SOX10 est un exemple de gène pléiotrope, parce qu’il a un impact sur plusieurs processus de développement et influence de multiples traits phénotypiques.

Pléiotropie

La pléiotropie est le phénomène dans lequel un seul gène affecte plusieurs traits phénotypiques apparemment sans rapport. Par exemple, des défauts dans le gène SOX10 causent ...

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sox10 and multiple traits in pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change.

In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock, different-colored irises, and patches of unpigmented skin. The syndrome can also cause hearing loss.

SOX10 affects more than pigment because of where it is active during early development. It is found in neural crest cells, which give rise to melanocytes, the cells involved in pigmentation. These cells also help with early ear development, which helps explain the hearing problems seen in WS4.

SOX10 is also expressed in nerve tissue that later contributes to the enteric nervous system in the gut. This system controls intestinal contractions needed for waste elimination. When SOX10 does not work properly, some individuals develop an enlarged colon and have trouble eliminating waste. These effects show how one gene can shape several developmental processes at once.

SOX10 and Multiple Traits in Pleiotropy

genetic lingo

Genotype, Phenotype, and Inheritance

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pleiotropy

Pleiotropy is when one gene affects more than one trait. The SOX10 gene is a clear example because it can influence pigmentation, hearing, and intestinal movement. These traits may seem unrelated, but they can all be linked to the same gene change. In humans, a deleted region in SOX10 can cause Waardenburg Syndrome Type 4, or WS4. WS4 is an autosomal recessive disorder, which means a person usually inherits two altered copies of the gene. Common signs include a white forelock,...

sex-linked disorders

X- and Y-Linked Disorder Patterns

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Explore how the SOX10 gene affects pigmentation, hearing, and gut movement in Waardenburg Syndrome Type 4, a classic example of pleiotropy.

SOX10 and Multiple Traits in Pleiotropy | JoVE K12

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Heredity: Inheritance and Variation of Traits

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SOX10 and Multiple Traits in Pleiotropy

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