The neurobiology of mouse models syntenic to human chromosome 15q

Takumi Toru

Journal of Neurodevelopmental Disorders

Autism is a neurodevelopmental disorder that manifests in childhood as social behavioral abnormalities, such as abnormal social interaction, impaired communication, and restricted interest or behavior. Of the known causes of autism, duplication of human chromosome 15q11–q13 is the most frequently associated cytogenetic abnormality. Chromosome 15q11–q13 is also known to include imprinting genes. In terms of neuroscience, it contains interesting genes such as Necdin, Ube3a, and a cluster of GABAA subunits as well as huge clusters of non-coding RNAs (small nucleolar RNAs, snoRNAs). Phenotypic analyses of mice genetically or chromosomally engineered for each gene or their clusters on a region of mouse chromosome seven syntenic to human 15q11–q13 indicate that this region may be involved in social behavior, serotonin metabolism, and weight control. Further studies using these models will provide important clues to the pathophysiology of autism. This review overviews phenotypes of mouse models of genes in 15q11–q13 and their relationships to autism.

15q11–q13

Mouse model

Autism

Chromosome

CNV

Serotonin

Epigenetics

医学 [ 490 ]

英語

Springer US

(c) Springer Science+Business Media, LLC 2011

[ISSN] 1866-1947

[DOI] 10.1007/s11689-011-9088-1

[DOI] http://dx.doi.org/10.1007/s11689-011-9088-1