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Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism
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نویسنده
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liu x. ,han d. ,somel m. ,jiang x. ,hu h. ,guijarro p. ,zhang n. ,mitchell a. ,halene t. ,ely j.j. ,sherwood c.c. ,hof p.r. ,qiu z. ,pääbo s. ,akbarian s. ,khaitovich p.
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منبع
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plos biology - 2016 - دوره : 14 - شماره : 9
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چکیده
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Cognitive defects in autism spectrum disorder (asd) include socialization and communication: key behavioral capacities that separate humans from other species. here,we analyze gene expression in the prefrontal cortex of 63 autism patients and control individuals,as well as 62 chimpanzees and macaques,from natal to adult age. we show that among all aberrant expression changes seen in asd brains,a single aberrant expression pattern overrepresented in genes involved synaptic-related pathways is enriched in nucleotide variants linked to autism. furthermore,only this pattern contains an excess of developmental expression features unique to humans,thus resulting in the disruption of human-specific developmental programs in autism. several members of the early growth response (egr) transcription factor family can be implicated in regulation of this aberrant developmental change. our study draws a connection between the genetic risk architecture of autism and molecular features of cortical development unique to humans. © 2016 public library of science. all rights reserved.
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آدرس
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cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai,china,big data decision institute,jinan university,guangzhou,china,shanghai key laboratory of forensic medicine,institute of forensic sciences,ministry of justice,shanghai, China, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai, China, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai,china,department of biological sciences,middle east technical university,ankara, Turkey, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai, China, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai, China, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai, China, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai, China, department of psychiatry and friedman brain institute,icahn school of medicine at mount sinai,new york,ny, United States, department of psychiatry and friedman brain institute,icahn school of medicine at mount sinai,new york,ny, United States, maebios-tm,alamogordo,nm, United States, department of anthropology,the george washington university,washington,dc, United States, fishberg department of neuroscience and friedman brain institute,icahn school of medicine at mount sinai,new york,ny, United States, institute of neuroscience,chinese academy of sciences,shanghai, China, max planck institute for evolutionary anthropology,leipzig, Germany, department of psychiatry and friedman brain institute,icahn school of medicine at mount sinai,new york,ny, United States, cas key laboratory of computational biology,cas-mpg partner institute for computational biology,shanghai,china,max planck institute for evolutionary anthropology,leipzig,germany,skolkovo institute for science and technology,skolkovo, Russian Federation
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Authors
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