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Marjorie Bekaert Thomas
Advances in health and medicine.
Autism Channel
Reported December 24, 2012

Mutation “Hotspots” in Autism Genes


(Ivanhoe Newswire)--Genes that have been linked to autism are more prone to mutation than the average gene, according to a new study.
The finding suggests that some of the genetic culprits that contribute to autism are mutation "hotspots," and higher mutation rates in certain parts of the genome contribute to disease risk in humans. 
"Some disease-related genes are gluttons for punishment," said senior study author Jonathan Sebat of the University of California, San Diego. "Despite the fact that these genes are important for normal human development, they appear to be getting hammered with mutations."
Sebat and his team performed whole-genome sequencing on identical twins with autism spectrum disorder, and on their parents. During their research they also found that nucleotide substitutions were clustered in certain parts of the genome, and mutation rates varied by as much as 100-fold across the genome.
 Properties of genetic material, such as characteristics of the DNA sequence and how DNA is packed, caused the variations.
“An unbiased look at patterns of mutation in the genome was impossible before the development of high-throughput sequencing technologies," Sebat said. 
"This is truly the first chance anyone has had to explore the landscape of mutability in humans.” 
Source: Cell, December 20th, 2012
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