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West Ashley Library
9 a.m. - 4 p.m.
Phone: (843) 766-6635
Main Library
9 a.m. - 6 p.m.
Phone: (843) 805-6930
Folly Beach Library
Closed for renovations
Phone: (843) 588-2001
John L. Dart Library
9 a.m. - 6 p.m.
Phone: (843) 722-7550
St. Paul's/Hollywood Library
9 a.m. - 5 p.m.
Phone: (843) 889-3300
Mt. Pleasant Library
9 a.m. – 6 p.m.
Phone: (843) 849-6161
Dorchester Road Library
9 a.m. - 6 p.m.
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Edgar Allan Poe/Sullivan's Island Library
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John's Island Library
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Edisto Library
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Wando Mount Pleasant Library
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Otranto Road Library
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Phone: (843) 805-6892
Village Library
9 a.m. - 6 p.m.
Phone: (843) 884-9741
Keith Summey North Charleston Library
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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders.
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- Author(s): Mitra, Ileena; Lavillaureix, Alinoë; Yeh, Erika; Traglia, Michela; Tsang, Kathryn; Bearden, Carrie E.; Rauen, Katherine A.; Weiss, Lauren A.
- Source:
PLoS Genetics; 1/11/2017, Vol. 13 Issue 1, p1-27, 27p- Subject Terms:
- Source:
- Additional Information
- Abstract: Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way interaction have limited power in human studies. We thus used knowledge of a biological pathway in order to identify a contribution of epistasis to autism spectrum disorders (ASDs) in humans, a reverse-pathway genetic approach. Based on previous observation of increased ASD symptoms in Mendelian disorders of the Ras/MAPK pathway (RASopathies), we showed that common SNPs in RASopathy genes show enrichment for association signal in GWAS (P = 0.02). We then screened genome-wide for interactors with RASopathy gene SNPs and showed strong enrichment in ASD-affected individuals (P < 2.2 x 10−16), with a number of pairwise interactions meeting genome-wide criteria for significance. Finally, we utilized quantitative measures of ASD symptoms in RASopathy-affected individuals to perform modifier mapping via GWAS. One top region overlapped between these independent approaches, and we showed dysregulation of a gene in this region, GPR141, in a RASopathy neural cell line. We thus used orthogonal approaches to provide strong evidence for a contribution of epistasis to ASDs, confirm a role for the Ras/MAPK pathway in idiopathic ASDs, and to identify a convergent candidate gene that may interact with the Ras/MAPK pathway. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of PLoS Genetics is the property of Public Library of Science and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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