Genomic 'hotspots' offer clues to causes of autism, other disorders

Genomic 'hotspots' offer clues to causes of autism, other disorders December 20, 2012 in Genetics Enlarge Spontaneous mutations in the germline are a significant factor influencing genetic risk for autism spectrum disorders (ASDs). Using whole-genome sequencing of autism families, Michaelson et al. (pp. 1431–1442) determine the intrinsic characteristics of the genome that influence regional mutation rates and quantify the effect of paternal age on global mutation rate. Mutation rates vary widely throughout the genome, and regional hypermutation emerges as a factor determining the contribution of individual genes to risk for ASD and other disorders in the population. Cover artwork by Evgeny Buryat Onutchin. Credit: Michaelson et al., Cell. Artwork by Evgeny Buryat Onutchin An international team, led by researchers from the University of California, San Diego School of Medicine, has discovered that "random" mutations in the genome are not quite so random after all. Their study, to be published in the journal Cell on December 21, shows that the DNA sequence in some regions of the human genome is quite volatile and can mutate ten times more frequently than the rest of the genome. Genes that are linked to autism and a variety of other disorders have a particularly strong tendency to mutate. google_protectAndRun("render_ads.js::google_render_ad", google_handleError, google_render_ad);Ads by GoogleGENEWIZ Gene Synthesis - Simply submit your target sequenc & Receive your gene in 8 Days(<1 -="-" .2012.11.019journal=".2012.11.019journal" .5kb=".5kb" 10="10" 20="20" 375="375" 500="500" 600="600" 60="60" 6="6" 9067="9067" a="a" able="able" about="about" according="according" accountid:="accountid:" accurately="accurately" al.:="al.:" al.="al." all="all" allowscriptaccess:="allowscriptaccess:" also="also" always="always" an="an" and="and" answered.="answered." are="are" asked="asked" associated="associated" at="at" author="author" authors="authors" autism.="autism." autism="autism" average="average" base="base" based="based" basis="basis" be="be" been="been" bekle.zip="bekle.zip" beyster="beyster" bgi="bgi" billion="billion" 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