
Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption. In addition, AUTS2 contains the most significantly accelerated genomic region differentiating humans from Neanderthals, which is primarily composed of noncoding variants. However, the function and regulation of this gene remain largely unknown. To characterize auts2 function, we knocked it down in zebrafish, leading to a smaller head size, neuronal reduction, and decreased mobility. To characterize AUTS2 regulatory elements, we tested sequences for enhancer activity in zebrafish and mice. We identified 23 functional zebrafish enhancers, 10 of which were active in the brain. Our mouse enhancer assays characterized three mouse brain enhancers that overlap an ASD-associated deletion and four mouse enhancers that reside in regions implicated in human evolution, two of which are active in the brain. Combined, our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits.
570, Enhancer Elements, Autism, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, QH426-470, 576, Mice, Genetic, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, Autistic Disorder, Zebrafish, Neanderthals, Pediatric, Neurons, Base Sequence, Neurosciences, Proteins, Genomics, Biological Sciences, Biological Evolution, Brain Disorders, Cytoskeletal Proteins, Mental Health, Enhancer Elements, Genetic, Phenotype, Neurological, Mental health, Head, Developmental Biology, Research Article, Transcription Factors
570, Enhancer Elements, Autism, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, QH426-470, 576, Mice, Genetic, Behavioral and Social Science, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, Autistic Disorder, Zebrafish, Neanderthals, Pediatric, Neurons, Base Sequence, Neurosciences, Proteins, Genomics, Biological Sciences, Biological Evolution, Brain Disorders, Cytoskeletal Proteins, Mental Health, Enhancer Elements, Genetic, Phenotype, Neurological, Mental health, Head, Developmental Biology, Research Article, Transcription Factors
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