Friday, December 21, 2012

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

An international team, led by researchers from UC San Diego,  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.
Science Daily, Dec 20, 2012
Jacob J. Michaelson et al.
Cell, Volume 151, Issue 7, 1431-1442, 21 December 2012

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