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 […]
Kettle of fish: More than two dozen strains of zebrafish with autism-linked gene variants share overlapping developmental pathways that lead to differences in social behavior, brain activity patterns and brain size, according to a new study. Molecular drivers of the differences include altered function in neuropeptide signaling, neuronal maturation and cell proliferation, which the authors […]
Social skills: Tendencies to engage in groom soliciting, solitary play or sitting alone are highly heritable among macaques. Courtesy of Emory University / Marie Collantes Some aspects of rhesus macaques’ social behavior are strongly shaped by genetics, with differences tied to variants in autism-linked genes, according to a new study. The findings may shed light […]
Growth spurt: An autism-linked mutation shifts the balance of excitatory (pink) and inhibitory (green) neurons during development. Mutations in three genes strongly associated with autism shift the pace at which certain inhibitory and excitatory neurons develop, according to a study published today in Nature. The findings reveal a novel point of convergence by which the […]
Pruning: Neurons from mice lacking one copy of ASH1L (third row) do not prune away as many synapses (bottom row) as control neurons (top and second rows) after stimulation. Loss of the autism-related gene ASH1L leads to excess synapses and autism-like behaviors in mice, according to a study published today in Neuron. Increasing the activity […]
In a fix: mice lacking the autism-related gene POGZ have an altered expression of ADNP, which is also associated with autism. The POGZ gene associated with autism, according to a new mouse study, facilitates the accessibility and expression of genes involved in wiring the brain in utero. People with a mutation in POGZ are more […]
Stress test: high expression of the protein HOMER1A (1, green) exaggerated the loss of SHANK3 (2, pink) from synapses in stressed mice with a mutated copy of the SHANK3 gene. Stressful situations lead to social deficits in mice with a mutated copy of the autism-linked gene SHANK3, according to a new study. The elimination of […]
Lack of isolation: Mutations in the MYT1L gene deactivate a transcription factor that is important for myelin-forming cells that coat nerve fibers. Biophoto Associates / Science Source A variety of traits, including developmental delay and intellectual disability, characterize people with mutations in the autism-related MYT1L gene, according to a new study. The gene encodes a […]
Missing myelin: Clearing TBX1 in mice decreases the amount of myelin around axons in several areas of the white matter of the brain. Courtesy of Hiroi Nonaka Mice lacking a copy of TBX1, a gene in the autism-linked 22q11.2 chromosomal region, are producing too little myelin – the fatty insulation that surrounds neurons – and […]
Voice connection: Zebra finches and other birds that learn songs carry mutations near genes that are often mutated in autism. Courtesy Lomax Boyd Genes that appear to play a role in song learning in some birds are often mutated in autistic people, according to a new study. The results show the value of studying the […]
