Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
34995520
TITLE
Limb development genes underlie variation in human fingerprint patterns.
ABSTRACT
Fingerprints are of long-standing practical and cultural interest, but little is known about the mechanisms that underlie their variation. Using genome-wide scans in Han Chinese cohorts, we identified 18 loci associated with fingerprint type across the digits, including a genetic basis for the long-recognized "pattern-block" correlations among the middle three digits. In particular, we identified a variant near EVI1 that alters regulatory activity and established a role for EVI1 in dermatoglyph patterning in mice. Dynamic EVI1 expression during human development supports its role in shaping the limbs and digits, rather than influencing skin patterning directly. Trans-ethnic meta-analysis identified 43 fingerprint-associated loci, with nearby genes being strongly enriched for general limb development pathways. We also found that fingerprint patterns were genetically correlated with hand proportions. Taken together, these findings support the key role of limb development genes in influencing the outcome of fingerprint patterning.
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.
DATE PUBLISHED
2022 Jan 06
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2021/04/16
revised 2021/10/20
accepted 2021/12/08
entrez 2022/01/07 20:11
pubmed 2022/01/08 06:00
medline 2022/01/08 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Li J Li Jinxi J State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Glover JD Glover James D JD The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Zhang H Zhang Haiguo H Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Peng M Peng Meifang M CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC; Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Tan J Tan Jingze J Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Mallick CB Mallick Chandana Basu CB The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK; Centre for Genetic Disorders, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India.
Hou D Hou Dan D Chinese Academy of Sciences Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Yang Y Yang Yajun Y Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
Wu S Wu Sijie S State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Liu Y Liu Yu Y CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Peng Q Peng Qianqian Q CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Zheng SC Zheng Shijie C SC CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Crosse EI Crosse Edie I EI Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
Medvinsky A Medvinsky Alexander A Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
Anderson RA Anderson Richard A RA MRC Centre for Reproductive Health, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK.
Brown H Brown Helen H The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Yuan Z Yuan Ziyu Z Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu 225326, PRC.
Zhou S Zhou Shen S Shanghai Foreign Language School, Shanghai 200083, PRC.
Xu Y Xu Yanqing Y Forest Ridge School of the Sacred Heart, Bellevue, WA 98006, USA.
Kemp JP Kemp John P JP University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia.
Ho YYW Ho Yvonne Y W YYW QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
Loesch DZ Loesch Danuta Z DZ Psychology Department, La Trobe University, Melbourne, VIC, Australia.
Wang L Wang Lizhong L WeGene, Shenzhen, Guangdong 518040, PRC.
Li Y Li Yingxiang Y WeGene, Shenzhen, Guangdong 518040, PRC.
Tang S Tang Senwei S WeGene, Shenzhen, Guangdong 518040, PRC.
Wu X Wu Xiaoli X WeGene, Shenzhen, Guangdong 518040, PRC.
Walters RG Walters Robin G RG Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK; Medical Research Council Population Health Research Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
Lin K Lin Kuang K Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
Meng R Meng Ruogu R Center for Data Science in Health and Medicine, Peking University, Beijing 100191, PRC.
Lv J Lv Jun J Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, PRC.
Chernus JM Chernus Jonathan M JM Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Neiswanger K Neiswanger Katherine K Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA.
Feingold E Feingold Eleanor E Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Evans DM Evans David M DM University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia; Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Medland SE Medland Sarah E SE QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
Weinberg SM Weinberg Seth M SM Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA; Department of Anthropology, University of Pittsburgh, Pittsburgh, PA 15260, USA.
Marazita ML Marazita Mary L ML Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA; Clinical and Translational Science, University of Pittsburgh, Pittsburgh, PA 15261, USA; Department of Psychiatry, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Chen G Chen Gang G WeGene, Shenzhen, Guangdong 518040, PRC.
Chen Z Chen Zhengming Z Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK; Medical Research Council Population Health Research Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
Zhou Y Zhou Yong Y Clinical Research Institute, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PRC.
Cheeseman M Cheeseman Michael M The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
Wang L Wang Lan L Chinese Academy of Sciences Key Laboratory of Tissue Microenvironment and Tumor, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
Jin L Jin Li L State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC; Research Unit of Dissecting the Population Genetics and Developing New Technologies for Treatment and Prevention of Skin Phenotypes and Dermatological Diseases (2019RU058), Chinese Academy of Medical Sciences, Shanghai 200438, PRC. Electronic address: lijin@fudan.edu.cn.
Headon DJ Headon Denis J DJ The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK. Electronic address: denis.headon@roslin.ed.ac.uk.
Wang S Wang Sijia S CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, PRC. Electronic address: wangsijia@picb.ac.cn.
INVESTIGATORS
JOURNAL
VOLUME: 185
ISSUE: 1
TITLE: Cell
ISOABBREVIATION: Cell
YEAR: 2022
MONTH: Jan
DAY: 06
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1097-4172
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Cell
COUNTRY: United States
ISSNLINKING: 0092-8674
NLMUNIQUEID: 0413066
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
EVI1
fingerprint pattern
genetics
genome-wide association study
limb development
trans-ethnic meta-analysis
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
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