Mouse Models of 22q11.2-Associated Autism Spectrum Disorder

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...

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Autores principales: Hiroi, Noboru, Hiramoto, Takeshi, Harper, Kathryn M., Suzuki, Go, Boku, Shuken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118685/
https://www.ncbi.nlm.nih.gov/pubmed/25089229
http://dx.doi.org/10.4172/2165-7890.S1-001
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author Hiroi, Noboru
Hiramoto, Takeshi
Harper, Kathryn M.
Suzuki, Go
Boku, Shuken
author_facet Hiroi, Noboru
Hiramoto, Takeshi
Harper, Kathryn M.
Suzuki, Go
Boku, Shuken
author_sort Hiroi, Noboru
collection PubMed
description 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 genesTbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms.
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spelling pubmed-41186852014-08-01 Mouse Models of 22q11.2-Associated Autism Spectrum Disorder Hiroi, Noboru Hiramoto, Takeshi Harper, Kathryn M. Suzuki, Go Boku, Shuken Autism Open Access Article 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 genesTbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. 2012-09-05 2012 /pmc/articles/PMC4118685/ /pubmed/25089229 http://dx.doi.org/10.4172/2165-7890.S1-001 Text en Copyright: © 2012 Hiroi N, et al. http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Article
Hiroi, Noboru
Hiramoto, Takeshi
Harper, Kathryn M.
Suzuki, Go
Boku, Shuken
Mouse Models of 22q11.2-Associated Autism Spectrum Disorder
title Mouse Models of 22q11.2-Associated Autism Spectrum Disorder
title_full Mouse Models of 22q11.2-Associated Autism Spectrum Disorder
title_fullStr Mouse Models of 22q11.2-Associated Autism Spectrum Disorder
title_full_unstemmed Mouse Models of 22q11.2-Associated Autism Spectrum Disorder
title_short Mouse Models of 22q11.2-Associated Autism Spectrum Disorder
title_sort mouse models of 22q11.2-associated autism spectrum disorder
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118685/
https://www.ncbi.nlm.nih.gov/pubmed/25089229
http://dx.doi.org/10.4172/2165-7890.S1-001
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