Article
Paternally inherited cis-regulatory structural variants are associated with autism.
Science (New York, N.Y.) - 20 Apr 2018
Brandler William M, Antaki Danny, Gujral Madhusudan, Kleiber Morgan L, Whitney Joe, Maile Michelle S, Hong Oanh, Chapman Timothy R, Tan Shirley, Tandon Prateek, Pang Timothy, Tang Shih C, Vaux Keith K, Yang Yan, Harrington Eoghan, Juul Sissel, Turner Daniel J, Thiruvahindrapuram Bhooma, Kaur Gaganjot, Wang Zhuozhi, Kingsmore Stephen F, Gleeson Joseph G, Bisson Denis, Kakaradov Boyko, Telenti Amalio, Venter J Craig, Corominas Roser, Toma Claudio, Cormand Bru, Rueda Isabel, Guijarro Silvina, Messer Karen S, Nievergelt Caroline M, Arranz Maria J, Courchesne Eric, Pierce Karen, Muotri Alysson R, Iakoucheva Lilia M, Hervas Amaia, Scherer Stephen W, Corsello Christina, Sebat Jonathan
Abstract excerpt
The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects...
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