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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Nature Genetics, Volume 44, No. 12, Year 2012
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Description
To evaluate evidence for de novo etiologies in schizophrenia, we sequenced at high coverage the exomes of families recruited from two populations with distinct demographic structures and history. We sequenced a total of 795 exomes from 231 parent-proband trios enriched for sporadic schizophrenia cases, as well as 34 unaffected trios. We observed in cases an excess of de novo nonsynonymous single-nucleotide variants as well as a higher prevalence of gene-disruptive de novo mutations relative to controls. We found four genes (LAMA2, DPYD, TRRAP and VPS39) affected by recurrent de novo events within or across the two populations, which is unlikely to have occurred by chance. We show that de novo mutations affect genes with diverse functions and developmental profiles, but we also find a substantial contribution of mutations in genes with higher expression in early fetal life. Our results help define the genomic and neural architecture of schizophrenia. © 2012 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Xu, Bin
United States, New York
Columbia University
Ionita-Laza, Iuliana
United States, New York
Columbia University
Roos, J. L.
South Africa, Pretoria
Weskoppies Hospital
South Africa, Pretoria
University of Pretoria
Boone, Braden E.
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Woodrick, Scarlet
United States, New York
Columbia University
Sun, Yan
United States, New York
Columbia University
Levy, Shawn E.
United States, Huntsville
Hudsonalpha Institute for Biotechnology
Gogos, Joseph A.
United States, New York
Columbia University
Karayiorgou, Maria
United States, New York
Columbia University
Statistics
Citations: 453
Authors: 9
Affiliations: 4
Identifiers
Doi:
10.1038/ng.2446
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics
Health System And Policy
Mental Health
Study Design
Cross Sectional Study