What about the other 97 percent?
Exome sequencing has produced a wealth of insight into the heritability of autism and identified a number of promising risk genes. But how much risk lies outside the exome?
Exome sequencing has produced a wealth of insight into the heritability of autism and identified a number of promising risk genes. But how much risk lies outside the exome?
In his Directors’ Column, Alan Packer points out how a number of autism risk genes act on a common cellular pathway regulated by a single protein. What other similar convergent paths might be hiding in the literature? Let’s go on a treasure hunt.
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.
Researchers have created a network of various forms of many proteins linked to autism, revealing new molecular interactions that may play a role in the disorder. The unpublished work was presented in a poster last week at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California.
Rare, inherited mutations contribute to a significant proportion of autism cases, helping to explain the heritability of the disorder, according to two new studies published today in Neuron.
The genome appears to be littered with so-called ‘hotspots,’ areas that are prone to single-letter mutations, according to research published 21 December in Cell.
Gene expression changes measured in blood may help differentiate children with autism from those without the disorder, suggest two studies published in the past few months.
A significant proportion of mutations linked to autism alter proteins that regulate gene expression by modifying the structure of DNA, according to a study published 13 November in Molecular Psychiatry.
Watch the complete replay of Stephan Sanders’ webinar on exome sequencing and autism risk genes. Submit your own follow-up questions.