Autism

Posted by & filed under Part 28: NEUROGENETICS.

Campbell and colleagues found through a GWAS a significant association of autism spectrum disorder (ASD) with a SNP located in a gene-poor region of chromosome 5p14.1. They found that individuals who carry this ASD-associated SNP showed increased expression of  moesin pseudogene 1, antisense(MSNP1AS), a noncoding RNA encoded by the moesin pseudogene 1 (MSNP1). MSNP1AS is 94% identical and antisense to the X chromosome transcript of MSN, which encodes a protein (moesin) that regulates neuronal architecture. The MSNP1AS noncoding RNA bound to MSN, was found to be highly overexpressed (12.7-fold) in postmortem cerebral cortex of individuals with ASD, and could regulate levels of moesin protein in human cell lines (Sci Transl Med 4 April 2012: Vol. 4, Issue 128, p. 128ra40).

Posted by Nicola Brunetti-Pierri, MD, FACMG

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