Relevance to Autism

A rare mutation in the ATRX gene has been identified with ASD (Gong et al., 2008).

Molecular Function

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. Mutations in this gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported.

External Links

References

Model Summary

The Atrx mutant mouse model shows alterations in behavior, with mutants exhibiting decreased conditioned fear response and spatial learning. Additionally, mice display increased aggression, as measured by an increased number of tail rattling events in the three-chamber social approach test, increased agitation in the presence of a handler as quantified by a score that reflects biting, trunk curl and vocalization, and decreased latency to attack in male mice in the resident-intruder test. Male mutants also exhibit increased depression as measured by an increase in the time spent immobile in the forced swim test. The model also shows sensory deficits, as demonstrated by diminished olfaction.

References