Researchers have sequenced the whole genomes of 1,000 people with autism and their parents, they announced yesterday at the American Society of Human Genetics Annual Meeting in San Diego. These sequences, and another 1,000 that are on the way, will eventually be freely available online.
Spectrum: Autism Research News
Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequence analysis. That’s the upshot of preliminary results from three studies presented yesterday at the American Society of Human Genetics Annual Meeting in San Diego.
Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
Mutations in TBR1, a candidate gene for autism, compromise its functions and its ability to bind its partners — including FOXP2. Alan Packer explores the gene’s emerging link to language.
A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.
Advanced sequencing methods can detect spontaneous genetic changes that show up in only a small subset of a person’s cells, suggest two new studies published in August. Despite their low prevalence in the body, these so-called ‘somatic mosaic mutations’ occur frequently in people and may be important contributors to brain disorders.
DNA extracted from saliva is just as useful for sequencing genes as is DNA from blood cells, according to a report published in April in BMC Genomics. The easy and inexpensive method would be a boon for studies that need to sequence large numbers of people.
Researchers have identified nearly 4,000 genetic regions that may be critical for brain function, and harbor mutations involved in disorders such as autism, they reported 25 May in Nature Genetics.