AustralieFrV1, Main, Exploration, bibRecord, 00B483

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Identifieur interne : 00B483 ( Main/Exploration ); précédent : 00B482; suivant : 00B484

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Auteurs : Frédéric Laumonnier [France] ; Nathalie Ronce [France] ; Ben C. J. Hamel [Pays-Bas] ; Paul Thomas [Australie] ; James Lespinasse [France] ; Martine Raynaud [France] ; Christine Paringaux [France] ; Hans Van Bokhoven [Pays-Bas] ; Vera Kalscheuer [Allemagne] ; Jean-Pierre Fryns [Belgique] ; Jamel Chelly [France] ; Claude Moraine [France] ; Sylvain Briault [France]

Source :

American journal of human genetics [ 0002-9297 ] ; 2002.

RBID : Pascal:03-0096948

Descripteurs français

Pascal (Inist)
- Arriération mentale, Maladie héréditaire, STH, Déficit, Déterminisme génétique, Pathogénie, Homme, Femelle, Facteur transcription, Chromosome X, Caractère lié au sexe, Gène SOX3.
Wicri :
- topic : Déficit, Homme.

English descriptors

KwdEn :
- Deficiency, Female, Genetic determinism, Genetic disease, Human, Mental retardation, Pathogenesis, Sex linked character, Somatotropin hormone, Transcription factor, X-Chromosome.

Abstract

Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM―005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.

Affiliations:

Allemagne, Australie, Belgique, France, Pays-Bas
Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
Berlin, Nimègue, Paris, Tours

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 005456
to stream PascalFrancis, to step Curation: 000C70
to stream PascalFrancis, to step Checkpoint: 005154
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to stream Main, to step Curation: 00B483

Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Deficiency</term>
<term>Female</term>
<term>Genetic determinism</term>
<term>Genetic disease</term>
<term>Human</term>
<term>Mental retardation</term>
<term>Pathogenesis</term>
<term>Sex linked character</term>
<term>Somatotropin hormone</term>
<term>Transcription factor</term>
<term>X-Chromosome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term>
<term>Maladie héréditaire</term>
<term>STH</term>
<term>Déficit</term>
<term>Déterminisme génétique</term>
<term>Pathogénie</term>
<term>Homme</term>
<term>Femelle</term>
<term>Facteur transcription</term>
<term>Chromosome X</term>
<term>Caractère lié au sexe</term>
<term>Gène SOX3</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM―005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>France</li>
<li>Pays-Bas</li>
</country>
<region><li>Berlin</li>
<li>Centre-Val de Loire</li>
<li>Gueldre</li>
<li>Région Centre</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Tours</li>
</settlement>
</list>
<tree><country name="France"><region name="Centre-Val de Loire"><name sortKey="Laumonnier, Frederic" sort="Laumonnier, Frederic" uniqKey="Laumonnier F" first="Frédéric" last="Laumonnier">Frédéric Laumonnier</name>
</region>
<name sortKey="Briault, Sylvain" sort="Briault, Sylvain" uniqKey="Briault S" first="Sylvain" last="Briault">Sylvain Briault</name>
<name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<name sortKey="Lespinasse, James" sort="Lespinasse, James" uniqKey="Lespinasse J" first="James" last="Lespinasse">James Lespinasse</name>
<name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
<name sortKey="Paringaux, Christine" sort="Paringaux, Christine" uniqKey="Paringaux C" first="Christine" last="Paringaux">Christine Paringaux</name>
<name sortKey="Paringaux, Christine" sort="Paringaux, Christine" uniqKey="Paringaux C" first="Christine" last="Paringaux">Christine Paringaux</name>
<name sortKey="Raynaud, Martine" sort="Raynaud, Martine" uniqKey="Raynaud M" first="Martine" last="Raynaud">Martine Raynaud</name>
<name sortKey="Ronce, Nathalie" sort="Ronce, Nathalie" uniqKey="Ronce N" first="Nathalie" last="Ronce">Nathalie Ronce</name>
</country>
<country name="Pays-Bas"><region name="Gueldre"><name sortKey="Hamel, Ben C J" sort="Hamel, Ben C J" uniqKey="Hamel B" first="Ben C. J." last="Hamel">Ben C. J. Hamel</name>
</region>
<name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name>
</country>
<country name="Australie"><noRegion><name sortKey="Thomas, Paul" sort="Thomas, Paul" uniqKey="Thomas P" first="Paul" last="Thomas">Paul Thomas</name>
</noRegion>
</country>
<country name="Allemagne"><region name="Berlin"><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
</region>
</country>
<country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

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