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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
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Journal Article
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
2007
Overview
This is an issue edsumm for ng1933. Identification of the Palaeocene/Eocene thermal maximum in a marine sedimentary sequence. It shows that sea surface temperatures near the North Pole increased from roughly 18 degrees Celsius to over 23 degrees Celsius — such warm values imply the absence of ice and thus exclude the influence of ice-albedo feedbacks on this Arctic warming.
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of
SHANK3
on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage–sensitive synaptic pathway that is involved in autism spectrum disorders.
Publisher
Nature Publishing Group US,Nature Publishing Group,Nature Pub. Co
Subject
/ Animal Genetics and Genomics
/ Autism
/ Autistic Disorder - genetics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Classical genetics, quantitative genetics, hybrids
/ Female
/ Fundamental and applied biological sciences. Psychology
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Human
/ Humans
/ In Situ Hybridization, Fluorescence
/ Male
/ Mutation
/ Pedigree
/ Proteins
