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Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans

文献类型：期刊论文

作者Wu, Sijie2; Zhang, Manfei2; Wang, Lina2; Hu, Yanan2; Peng, Qianqian2; Li, Jinxi2; Liu, Yu2; Tang, Kun2,3,4; Xu, Shuhua2,3,4; Jin, Li2,3,4,5
刊名PLOS GENETICS
出版日期2018
卷号14期号:9页码:e1007640
ISSN号1553-7404
DOI10.1371/journal.pgen.1007640
文献子类Article
英文摘要Hair plays an important role in primates and is clearly subject to adaptive selection. While humans have lost most facial hair, eyebrows are a notable exception. Eyebrow thickness is heritable and widely believed to be subject to sexual selection. Nevertheless, few genomic studies have explored its genetic basis. Here, we performed a genome-wide scan for eyebrow thickness in 2961 Han Chinese. We identified two new loci of genome-wide significance, at 3q26.33 near SOX2 (rs1345417: P = 6.51x10(-10)) and at 5q13.2 near FOXD1 (rs12651896: P = 1.73x10(-8)). We further replicated our findings in the Uyghurs, a population from China characterized by East Asian-European admixture (N = 721), the CANDELA cohort from five Latin American countries (N = 2301), and the Rotterdam Study cohort of Dutch Europeans (N = 4411). A meta-analysis combining the full GWAS results from the three cohorts of full or partial Asian descent (Han Chinese, Uyghur and Latin Americans, N = 5983) highlighted a third signal of genome-wide significance at 2q12.3 (rs1866188: P = 5.81x10(-11)) near EDAR. We performed fine-mapping and prioritized four variants for further experimental verification. CRISPR/Cas9-mediated gene editing provided evidence that rs1345417 and rs12651896 affect the transcriptional activity of the nearby SOX2 and FOXD1 genes, which are both involved in hair development. Finally, suitable statistical analyses revealed that none of the associated variants showed clear signals of selection in any of the populations tested. Contrary to popular speculation, we found no evidence that eyebrow thickness is subject to strong selective pressure.
学科主题Genetics & Heredity
WOS关键词POSITIVE SELECTION ; HAIR-GROWTH ; HUMAN SKIN ; EXPRESSION ; TRANSCRIPTOME ; METAANALYSIS ; PROGENITORS ; POPULATIONS ; SENSITIVITY ; EUROPEANS
语种英语
出版者PUBLIC LIBRARY SCIENCE
WOS记录号WOS:000446157400023
版本出版稿
源URL[http://202.127.25.144/handle/331004/751]  
专题中国科学院上海生命科学研究院营养科学研究所
作者单位1.Chinese Acad Sci, Ctr Excellence Anim Evolut & Genet, Kunming, Yunnan, Peoples R China,
2.Univ Chinese Acad Sci, Chinese Acad Sci, CAS MPG Partner Inst Computat Biol, Shanghai Inst Nutr & Hlth,CAS Key Lab Computat Bi, Shanghai, Peoples R China;
3.Fudan Univ, Sch Life Sci, Collaborat Innovat Ctr Genet & Dev, State Key Lab Genet Engn, Shanghai, Peoples R China;
4.Fudan Univ, Minist Educ, Collaborat Innovat Ctr Genet & Dev, Key Lab Contemporary Anthropol,Sch Life Sci, Shanghai, Peoples R China;
5.Fudan Univ, Human Phenome Inst, 825 Zhangheng Rd, Shanghai, Peoples R China;
6.Univ Chinese Acad Sci, Chinese Acad Sci, CAS Key Lab Tissue Microenvironment & Tumor, Shanghai Inst Nutr & Hlth,Shanghai Inst Biol Sci, Shanghai, Peoples R China;
7.Changzheng Hosp Joint Ctr Translat Res, Inst Translat Res CAS SMMU, SIBS Inst Hlth Sci, Shanghai, Peoples R China;
8.Chinese Acad Sci, Beijing Inst Gen, Key Lab Genom & Precis Med, Beijing, Peoples R China;
9.Fudan Taizhou Inst Hlth Sci, Taizhou, Jiangsu, Peoples R China;
10.Xinjiang Med Univ, Preclin Med Coll, Dept Biochem, Urumqi, Peoples R China;
推荐引用方式
GB/T 7714		 Wu, Sijie,Zhang, Manfei,Wang, Lina,et al. Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans[J]. PLOS GENETICS,2018,14(9):e1007640.
APA Wu, Sijie.,Zhang, Manfei.,Wang, Lina.,Hu, Yanan.,Peng, Qianqian.,...&,.(2018).Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans.PLOS GENETICS,14(9),e1007640.
MLA Wu, Sijie,et al."Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans".PLOS GENETICS 14.9(2018):e1007640.

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来源：上海营养与健康研究所

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