Gene variants accumulate in older men’s sperm; and more

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 sperm are more pervasive than previously recognized. “It’s well known that risk for autism in offspring increases with the age of the father and that this is partly attributable to mutations that accumulate in sperm as men age,” wrote Jonathan Sebat, professor of psychiatry and cellular and molecular medicine at the University of California, San Diego, in an email to The Transmitter. In a second Nature study, clonal expansion in human sperm were characterized as “hot spots” of de novo variants. The Transmitter has previously reported that 1 in 15 men carry autism-linked variants in their sperm.

More autism research we spotted:

• “Comparing three algorithms of automated facial expression analysis in autistic children: Different sensitivities but consistent proportions” Molecular Autism
• “Human AUTS2 regulates neurodevelopmental pathways via dual DNA/RNA binding” bioRxiv
• “Maximizing the quality and reporting standards of autism intervention science” Autism Research
  See also: “Why autism therapies have an evidence problem”
• “Long-read sequencing reveals extensive FMR1 somatic mosaicism in fragile-X associated tremor/ataxia syndrome in human brain” bioRxiv
• “Autism Science Foundation’s Next Gen Sibs Project expands with support from Aligning Research to Impact Autism (ARIA)” Autism Science Foundation
• “A furious debate over autism’s causes leaves parents grasping for answers” The New York Times
• “Mutual gaze and later social attention development in infants at typical and elevated familial likelihood for ASD and/or ADHD” Early Human Development
• “Social skills as a predictor of mental health trajectories among autistic youth and youth with ADHD during the COVID-19 pandemic” Research on Child and Adolescent Psychopathology