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- W2000391750 abstract "De novo mutation plays an important role in autism spectrum disorders (ASDs). Notably, pathogenic copy number variants (CNVs) are characterized by high mutation rates. We hypothesize that hypermutability is a property of ASD genes and may also include nucleotide-substitution hot spots. We investigated global patterns of germline mutation by whole-genome sequencing of monozygotic twins concordant for ASD and their parents. Mutation rates varied widely throughout the genome (by 100-fold) and could be explained by intrinsic characteristics of DNA sequence and chromatin structure. Dense clusters of mutations within individual genomes were attributable to compound mutation or gene conversion. Hypermutability was a characteristic of genes involved in ASD and other diseases. In addition, genes impacted by mutations in this study were associated with ASD in independent exome-sequencing data sets. Our findings suggest that regional hypermutation is a significant factor shaping patterns of genetic variation and disease risk in humans." @default.
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- W2000391750 date "2012-12-01" @default.
- W2000391750 modified "2023-10-18" @default.
- W2000391750 title "Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation" @default.
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- W2000391750 doi "https://doi.org/10.1016/j.cell.2012.11.019" @default.
- W2000391750 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3712641" @default.
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- W2000391750 hasPublicationYear "2012" @default.