Humans may be uniquely prone to rearrangements of chromosome 16 that lead to autism, according to preliminary results presented Saturday at the American Society of Human Genetics Annual Meeting in San Diego.
When it comes to research, scientists and the public are often at odds. It’s a long-standing problem, but the results of a survey released last week reveal that in particular areas, this opinion gap has grown.
Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.
Researchers weigh in on the mounting evidence for a paternal-age effect in autism and what it might reveal about evolutionary mechanisms underlying the disorder.
Certain mutations may hijack the normal mechanisms of sperm production, leading to an enrichment of mutant sperm in older fathers, and to the paternal-age effect in autism.
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.