ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in...
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Veröffentlicht in: | Human molecular genetics 2002-04, Vol.11 (8), p.981-991 |
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creator | Bienvenu, Thierry Poirier, Karine Friocourt, Gaelle Bahi, Nadia Beaumont, Delphine Fauchereau, Fabien Ben Jeema, Lamia Zemni, Ramzi Vinet, Marie-Claude Francis, Fiona Couvert, Philippe Gomot, Marie Moraine, Claude van Bokhoven, Hans Kalscheuer, Vera Frints, Suzanne Gecz, Josef Ohzaki, Kanae Chaabouni, Habiba Fryns, Jean-Pierre Desportes, Vincent Beldjord, Cherif Chelly, Jamel |
description | Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities. |
doi_str_mv | 10.1093/hmg/11.8.981 |
format | Article |
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Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. 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Biological and molecular evolution ; Homeodomain Proteins - genetics ; Homeodomain Proteins - metabolism ; Human ; Humans ; Intellectual Disability - genetics ; Life Sciences ; Medical genetics ; Medical sciences ; Mental and behavioral disorders ; Middle Aged ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Neurons and Cognition ; Pedigree ; Peptides ; Sequence Analysis, DNA ; Sequence Analysis, Protein ; Sex Chromosome Disorders ; Telencephalon - metabolism ; Transcription Factors - genetics ; Transcription Factors - metabolism</subject><ispartof>Human molecular genetics, 2002-04, Vol.11 (8), p.981-991</ispartof><rights>2002 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Apr 15, 2002</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c520t-84053026d291e3b8e3e10424b06b9b12f82ba24bfd9faded962230d2da93ae303</citedby><orcidid>0000-0001-6681-7644 ; 0000-0003-1747-5806</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13613400$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11971879$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-04132913$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Bienvenu, Thierry</creatorcontrib><creatorcontrib>Poirier, Karine</creatorcontrib><creatorcontrib>Friocourt, Gaelle</creatorcontrib><creatorcontrib>Bahi, Nadia</creatorcontrib><creatorcontrib>Beaumont, Delphine</creatorcontrib><creatorcontrib>Fauchereau, Fabien</creatorcontrib><creatorcontrib>Ben Jeema, Lamia</creatorcontrib><creatorcontrib>Zemni, Ramzi</creatorcontrib><creatorcontrib>Vinet, Marie-Claude</creatorcontrib><creatorcontrib>Francis, Fiona</creatorcontrib><creatorcontrib>Couvert, Philippe</creatorcontrib><creatorcontrib>Gomot, Marie</creatorcontrib><creatorcontrib>Moraine, Claude</creatorcontrib><creatorcontrib>van Bokhoven, Hans</creatorcontrib><creatorcontrib>Kalscheuer, Vera</creatorcontrib><creatorcontrib>Frints, Suzanne</creatorcontrib><creatorcontrib>Gecz, Josef</creatorcontrib><creatorcontrib>Ohzaki, Kanae</creatorcontrib><creatorcontrib>Chaabouni, Habiba</creatorcontrib><creatorcontrib>Fryns, Jean-Pierre</creatorcontrib><creatorcontrib>Desportes, Vincent</creatorcontrib><creatorcontrib>Beldjord, Cherif</creatorcontrib><creatorcontrib>Chelly, Jamel</creatorcontrib><title>ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation</title><title>Human molecular genetics</title><addtitle>Hum. Mol. Genet</addtitle><description>Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acid Sequence</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, X</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>Genes, Homeobox</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Homeodomain Proteins - genetics</subject><subject>Homeodomain Proteins - metabolism</subject><subject>Human</subject><subject>Humans</subject><subject>Intellectual Disability - genetics</subject><subject>Life Sciences</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mental and behavioral disorders</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Neurons and Cognition</subject><subject>Pedigree</subject><subject>Peptides</subject><subject>Sequence Analysis, DNA</subject><subject>Sequence Analysis, Protein</subject><subject>Sex Chromosome Disorders</subject><subject>Telencephalon - metabolism</subject><subject>Transcription Factors - genetics</subject><subject>Transcription Factors - metabolism</subject><issn>0964-6906</issn><issn>1460-2083</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpd0d-L1DAQB_AiireevvksQVAQtnuZpJsmj-uirseCIoqLLyFtp9vetcmatMfef2-WLnfgU359mMnwTZLXQBdAFb9q-v0VwEIulIQnyQwyQVNGJX-azKgSWSoUFRfJixBuKAWR8fx5cgGgcpC5miXj6sduTgyx7g478t1XadmZENLG9egKdyR7tEiadt909wSPB48hYEVaS4YGyYAd2hIPjemcnZM2kH4czDCBXdq19jbue7SD6YjHwfjKDK2zL5NntekCvjqvl8mvz59-rjfp9tuXr-vVNi2XjA6pzOiSUyYqpgB5IZEj0IxlBRWFKoDVkhUmHutK1abCSgnGOK1YZRQ3yCm_TD5MdeMH9cG3vfH32plWb1ZbfbqjGfBYnN9BtO8ne_Du74hh0H0bSuw6Y9GNQecgOF1KGeHb_-CNG72Nc2gGwCHjkkU0n1DpXQge64f2QPUpNx1z0wBa6phb5G_ONceix-oRn4OK4N0ZmFCarvbGlm14dFwAz-hp4nRybRjw-PBu_K0WOc-XerP7o9fX17_X8qPQlP8DW-auOw</recordid><startdate>20020415</startdate><enddate>20020415</enddate><creator>Bienvenu, Thierry</creator><creator>Poirier, Karine</creator><creator>Friocourt, Gaelle</creator><creator>Bahi, Nadia</creator><creator>Beaumont, Delphine</creator><creator>Fauchereau, Fabien</creator><creator>Ben Jeema, Lamia</creator><creator>Zemni, Ramzi</creator><creator>Vinet, Marie-Claude</creator><creator>Francis, Fiona</creator><creator>Couvert, Philippe</creator><creator>Gomot, Marie</creator><creator>Moraine, Claude</creator><creator>van Bokhoven, Hans</creator><creator>Kalscheuer, Vera</creator><creator>Frints, Suzanne</creator><creator>Gecz, Josef</creator><creator>Ohzaki, Kanae</creator><creator>Chaabouni, Habiba</creator><creator>Fryns, Jean-Pierre</creator><creator>Desportes, Vincent</creator><creator>Beldjord, Cherif</creator><creator>Chelly, Jamel</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><general>Oxford University Press (OUP)</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><orcidid>https://orcid.org/0000-0001-6681-7644</orcidid><orcidid>https://orcid.org/0000-0003-1747-5806</orcidid></search><sort><creationdate>20020415</creationdate><title>ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation</title><author>Bienvenu, Thierry ; Poirier, Karine ; Friocourt, Gaelle ; Bahi, Nadia ; Beaumont, Delphine ; Fauchereau, Fabien ; Ben Jeema, Lamia ; Zemni, Ramzi ; Vinet, Marie-Claude ; Francis, Fiona ; Couvert, Philippe ; Gomot, Marie ; Moraine, Claude ; van Bokhoven, Hans ; Kalscheuer, Vera ; Frints, Suzanne ; Gecz, Josef ; Ohzaki, Kanae ; Chaabouni, Habiba ; Fryns, Jean-Pierre ; Desportes, Vincent ; Beldjord, Cherif ; Chelly, Jamel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c520t-84053026d291e3b8e3e10424b06b9b12f82ba24bfd9faded962230d2da93ae303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amino Acid Sequence</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, X</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Fundamental and applied biological sciences. 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Mol. Genet</addtitle><date>2002-04-15</date><risdate>2002</risdate><volume>11</volume><issue>8</issue><spage>981</spage><epage>991</epage><pages>981-991</pages><issn>0964-6906</issn><issn>1460-2083</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><abstract>Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ). Inherited and de novo ARX mutations, including missense mutations and in frame duplications/insertions leading to expansions of polyalanine tracts in ARX, were found in nine familial and one sporadic case of MR. In contrast to other genes involved in XLMR, ARX expression is specific to the telencephalon and ventral thalamus. Notably there is an absence of expression in the cerebellum throughout development and also in adult. 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source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
subjects | Adolescent Adult Amino Acid Sequence Biological and medical sciences Child Child, Preschool Chromosomes, Human, X Classical genetics, quantitative genetics, hybrids Fundamental and applied biological sciences. Psychology Gene Expression Genes, Homeobox Genetics of eukaryotes. Biological and molecular evolution Homeodomain Proteins - genetics Homeodomain Proteins - metabolism Human Humans Intellectual Disability - genetics Life Sciences Medical genetics Medical sciences Mental and behavioral disorders Middle Aged Molecular Sequence Data Mutation Mutation, Missense Neurons and Cognition Pedigree Peptides Sequence Analysis, DNA Sequence Analysis, Protein Sex Chromosome Disorders Telencephalon - metabolism Transcription Factors - genetics Transcription Factors - metabolism |
title | ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation |
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