Old growth: A new study in Nature identifies gene variants that accumulate in sperm as men age and finds that those linked to developmental conditions in children are among the most common. Researchers pinpoint 40 genes—31 of which had not previously been identified—that were under significant positive selection, demonstrating that genes undergoing clonal selection in […]
Pulling threads: A new study describes how genetic background can influence neurodevelopmental phenotypes linked to a particular gene variant. To wit, when a parent and child both carry the 16p12.1 deletion, they often experience different clinical presentations. The researchers evaluated 17 classes of secondary variants and identified those that influenced risk for specific traits, such […]
Long-read sequencing reveals novel autism-linked variants that short-read sequencing misses, according to two preprints posted on medRxiv in July. “These are two very nice papers from top labs. They both make compelling cases for long-read sequencing,” says Michael Gandal, associate professor of psychiatry, genetics and pediatrics at the University of Pennsylvania Perelman School of Medicine, […]
A broad swath of neuropsychiatric conditions, including autism, depression and schizophrenia, share genetic underpinnings. But individual variants can have strikingly different effects on clinical diagnoses: A variant that increases the likelihood of one condition may reduce that of another, according to two new preprints. “When you delete and duplicate genes, you get very different, often […]
Illustration by Laurenne Boglio Social media in the autism space this week served up a helpful cheat sheet of standout research tweets to catch up on — plus an easier way to consume preprints. “Mixtures matter,” tweeted Giuseppe Testa, professor of molecular biology at Università Statale in Milan, Italy, about the effects of endocrine disruption […]
research roundup Zebrafish startle in response to a simulated predator approach and habitualize to repeated trials; fish missing the FMR1 gene — a model of fragile X syndrome — show muted behavioral habituation and neuronal changes in the visual and motor systems. Nature Communications Autistic women and other-gender adults have more service needs and experience […]
Population prospects: Large mutations in six chromosomal regions confer a lower likelihood of autism and other diagnoses than previously thought, according to a study of people born in Denmark. Alexander Spatari/Getty Images Some rare mutations linked to autism may boost a person’s chances of having the condition less than prior work suggests, according to a […]
Common and rare variants in or near certain autism-associated genes can have opposite effects on cognition. Likewise, some autistic people carry autism-related variants with opposing effects on levels of intelligence. Two independent teams presented the unpublished results yesterday at the American Society of Human Genetics 2021 conference, which is being held virtually for the second […]
An analysis of entire genome sequences from thousands of families – one of the largest studies of its kind to date – has linked 163 new genes to autism. The study appeared in Nature Genetics today. The newly linked genes harbor extremely rare inherited genetic variants – changes in the genome that were passed on […]
Leveraging cross-species data on the evolution of proteins can help understand subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition, according to a new analysis. The work focuses on “missense” variants that alter a single amino acid in a protein and often have mild effects. […]
