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Mouse Models of 22q11.2-Associated Autism Spectrum Disorder / Noboru HIROI in Autism - Open Access, 2-S ([01/12/2012])
[article]
Titre : Mouse Models of 22q11.2-Associated Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Noboru HIROI, Auteur ; Takeshi HIRAMOTO, Auteur ; Kathryn M. HARPER, Auteur ; Go SUZUKI, Auteur ; Shuken BOKU, Auteur Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : Tbx1 Sept5 22q11.2 Syndromic ASD Copy number variation Index. décimale : PER Périodiques Résumé : Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Autism - Open Access > 2-S [01/12/2012] . - 9 p.[article] Mouse Models of 22q11.2-Associated Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Noboru HIROI, Auteur ; Takeshi HIRAMOTO, Auteur ; Kathryn M. HARPER, Auteur ; Go SUZUKI, Auteur ; Shuken BOKU, Auteur . - 9 p.
Langues : Anglais (eng)
in Autism - Open Access > 2-S [01/12/2012] . - 9 p.
Mots-clés : Tbx1 Sept5 22q11.2 Syndromic ASD Copy number variation Index. décimale : PER Périodiques Résumé : Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms / A. GUNA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)
[article]
Titre : Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms Type de document : Texte imprimé et/ou numérique Auteurs : A. GUNA, Auteur ; N. J. BUTCHER, Auteur ; A. S. BASSETT, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : Animal models Dgcr8 DiGeorge syndrome Homolog Homology Prodh Slc25a1 Tbx1 Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. METHODS: We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. RESULTS: There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. CONCLUSIONS: Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes. En ligne : http://dx.doi.org/10.1186/s11689-015-9113-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.18[article] Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms [Texte imprimé et/ou numérique] / A. GUNA, Auteur ; N. J. BUTCHER, Auteur ; A. S. BASSETT, Auteur . - p.18.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.18
Mots-clés : Animal models Dgcr8 DiGeorge syndrome Homolog Homology Prodh Slc25a1 Tbx1 Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. METHODS: We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. RESULTS: There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. CONCLUSIONS: Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes. En ligne : http://dx.doi.org/10.1186/s11689-015-9113-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347