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| DOI | 10.1126/science.aan2261 |
| Paternally inherited cis-regulatory structural variants are associated with autism | |
| Brandler, William M.1,2,3,4; Antaki, Danny1,2,3,5; Gujral, Madhusudan1,2,3; Kleiber, Morgan L.1,2,3; Whitney, Joe6; Maile, Michelle S.1,2,3; Hong, Oanh1,2,3; Chapman, Timothy R.1,2,3; Tan, Shirley1,2,3; Tandon, Prateek1,2,3; Pang, Timothy1,7; Tang, Shih C.1,7; Vaux, Keith K.8; Yang, Yan9; Harrington, Eoghan9; Juul, Sissel9; Turner, Daniel J.10; Thiruvahindrapuram, Bhooma6; Kaur, Gaganjot6; Wang, Zhuozhi6; Kingsmore, Stephen F.11; Gleeson, Joseph G.12; Bisson, Denis4; Kakaradov, Boyko4; Telenti, Amalio4; Venter, J. Craig4,13; Corominas, Roser14,15; Toma, Claudio16,17,18; Cormand, Bru15,16,19,20; Rueda, Isabel21; Guijarro, Silvina22; Messer, Karen S.23; Nievergelt, Caroline M.2; Arranz, Maria J.24; Courchesne, Eric25; Pierce, Karen25; Muotri, Alysson R.3; Iakoucheva, Lilia M.2; Hervas, Amaia22; Scherer, Stephen W.6,26,27; Corsello, Christina2,7; Sebat, Jonathan1,2,3 | |
| 2018-04-20 | |
| 发表期刊 | SCIENCE
 |
| ISSN | 0036-8075 |
| EISSN | 1095-9203 |
| 出版年 | 2018 |
| 卷号 | 360期号:6386页码:327-330 |
| 文章类型 | Article |
| 语种 | 英语 |
| 国家 | USA; Canada; England; Spain; Australia |
| 英文摘要 | 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 from 2600 families affected by ASD. In a discovery cohort of 829 families, structural variants were depleted within promoters and untranslated regions, and paternally inherited CRE-SVs were preferentially transmitted to affected offspring and not to their unaffected siblings. The association of paternal CRE-SVs was replicated in an independent sample of 1771 families. Our results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent. |
| 领域 | 地球科学 ; 气候变化 ; 资源环境 |
| 收录类别 | SCI-E ; SSCI |
| WOS记录号 | WOS:000430396600047 |
| WOS关键词 | DE-NOVO ; SPECTRUM DISORDER ; MUTATIONS ; GENOME ; ARCHITECTURE ; GENES ; TRANSCRIPTION ; PATTERNS ; RISK ; RARE |
| WOS类目 | Multidisciplinary Sciences |
| WOS研究方向 | Science & Technology - Other Topics |
| URL | 查看原文 |
| 引用统计 | |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/198469 |
| 专题 | 地球科学 资源环境科学 气候变化 |
| 作者单位 | 1.Univ Calif San Diego, Beyster Ctr Genom Psychiat Dis, La Jolla, CA 92093 USA; 2.Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA; 3.Univ Calif San Diego, Dept Cellular & Mol Med & Pediat, La Jolla, CA 92093 USA; 4.Human Longev Inc, San Diego, CA 92121 USA; 5.Univ Calif San Diego, Biomed Sci Grad Program, La Jolla, CA 92093 USA; 6.Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON, Canada; 7.Rady Childrens Hosp, San Diego, CA 92123 USA; 8.Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA; 9.Oxford Nanopore Technol Inc, New York, NY 10013 USA; 10.Oxford Nanopore Technol Ltd, Oxford, England; 11.Rady Childrens Hosp, Rady Childrens Inst Genom Med, San Diego, CA 92123 USA; 12.Univ Calif San Diego, Howard Hughes Med Inst, Rady Childrens Inst Genom Med, Dept Neurosci, La Jolla, CA 92093 USA; 13.J Craig Venter Inst, La Jolla, CA 92037 USA; 14.Univ Pompeu Fabra, Dept Expt & Hlth Sci, Genet Unit, Barcelona, Spain; 15.Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain; 16.Univ Barcelona, Fac Biol, Dept Genet Microbiol & Estat, Catalonia, Spain; 17.Neurosci Res Australia, Sydney, NSW, Australia; 18.Univ New South Wales, Sch Med Sci, Sydney, NSW, Australia; 19.IBUB, Catalonia, Spain; 20.IR SJD, Esplugues, Catalonia, Spain; 21.Hosp St Joan Deu, Dept Psychiat, Barcelona, Spain; 22.Hosp Univ Mutua Terrassa, Child & Adolescent Mental Hlth Unit, Barcelona, Spain; 23.Univ Calif San Diego, Dept Family Med & Publ Hlth, Div Biostat & Bioinformat, La Jolla, CA 92093 USA; 24.Fdn Docencia Recerca Mutua Terrassa, Res Lab Unit, Barcelona, Spain; 25.Univ Calif San Diego, Dept Neurosci, Autism Ctr Excellence, La Jolla, CA 92093 USA; 26.Univ Toronto, Dept Mol Genet, Toronto, ON, Canada; 27.Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada |
| 推荐引用方式 GB/T 7714 | Brandler, William M.,Antaki, Danny,Gujral, Madhusudan,et al. Paternally inherited cis-regulatory structural variants are associated with autism[J]. SCIENCE,2018,360(6386):327-330. |
| APA | Brandler, William M..,Antaki, Danny.,Gujral, Madhusudan.,Kleiber, Morgan L..,Whitney, Joe.,...&Sebat, Jonathan.(2018).Paternally inherited cis-regulatory structural variants are associated with autism.SCIENCE,360(6386),327-330. |
| MLA | Brandler, William M.,et al."Paternally inherited cis-regulatory structural variants are associated with autism".SCIENCE 360.6386(2018):327-330. |
| 条目包含的文件 | 条目无相关文件。 | |||||
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