Abstract
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.
Highlights
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
Autism is considered as an appropriate disorder that can be approached from biological aspects
This is partly because genetic studies show that the concordance rate of autism in identical twins is over 90%, which is higher than other neuropsychiatric diseases such as schizophrenia and mood disorders (Abrahams and Geschwind 2008)
Summary
In the paternally expressed regions of the mouse chromosome, Mkrn, Magel, Necdin (Ndn), Snrpn-Snurf, and huge clusters of small nucleolar RNAs (snoRNAs) are present. The fact that the neocortical interneurons are important for development of inhibitory neural circuits makes Ndn a possible candidate for causing an imbalance of the excitatory/ inhibitory ratio. It is still controversial whether Ndn is a cause of PWS, it is an intriguing target gene for further analyses in terms of developmental brain disorders, including ASDs. Snrpn is a small nuclear ribonucleoprotein N and the Snrpn promoter is located in a maternally methylated CpG island within an imprinting center (IC).
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