Limb development genes underlie variation in human fingerprint patterns

Jinxi Li; James D Glover; Haiguo Zhang; Meifang Peng; Jingze Tan; Chandana Basu Mallick; Dan Hou; Yajun Yang; Sijie Wu; Yu Liu; Qianqian Peng; Shijie C Zheng; Edie I Crosse; Alexander Medvinsky; Richard A Anderson; Helen Brown; Ziyu Yuan; Shen Zhou; Yanqing Xu; John P Kemp; Yvonne Y W Ho; Danuta Z Loesch; Lizhong Wang; Yingxiang Li; Senwei Tang; Xiaoli Wu; Robin G Walters; Kuang Lin; Ruogu Meng; Jun Lv; Jonathan M Chernus; Katherine Neiswanger; Eleanor Feingold; David M Evans; Sarah E Medland; Nicholas G Martin; Seth M Weinberg; Mary L Marazita; Gang Chen; Zhengming Chen; Yong Zhou; Michael Cheeseman; Lan Wang; Li Jin; Denis J Headon; Sijia Wang

doi:10.1016/j.cell.2021.12.008

Limb development genes underlie variation in human fingerprint patterns

Cell. 2022 Jan 6;185(1):95-112.e18. doi: 10.1016/j.cell.2021.12.008.

Authors

Jinxi Li¹, James D Glover², Haiguo Zhang³, Meifang Peng⁴, Jingze Tan³, Chandana Basu Mallick⁵, Dan Hou⁶, Yajun Yang³, Sijie Wu¹, Yu Liu⁷, Qianqian Peng⁷, Shijie C Zheng⁷, Edie I Crosse⁸, Alexander Medvinsky⁸, Richard A Anderson⁹, Helen Brown², Ziyu Yuan¹⁰, Shen Zhou¹¹, Yanqing Xu¹², John P Kemp¹³, Yvonne Y W Ho¹⁴, Danuta Z Loesch¹⁵, Lizhong Wang¹⁶, Yingxiang Li¹⁶, Senwei Tang¹⁶, Xiaoli Wu¹⁶, Robin G Walters¹⁷, Kuang Lin¹⁸, Ruogu Meng¹⁹, Jun Lv²⁰, Jonathan M Chernus²¹, Katherine Neiswanger²², Eleanor Feingold²¹, David M Evans²³, Sarah E Medland¹⁴, Nicholas G Martin¹⁴, Seth M Weinberg²⁴, Mary L Marazita²⁵, Gang Chen¹⁶, Zhengming Chen¹⁷, Yong Zhou²⁶, Michael Cheeseman², Lan Wang⁶, Li Jin²⁷, Denis J Headon²⁸, Sijia Wang²⁹

Affiliations

¹ 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.
² The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
³ Ministry of Education Key Laboratory of Contemporary Anthropology, Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai 200438, PRC.
⁴ 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.
⁵ 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.
⁶ 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.
⁷ 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.
⁸ Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
⁹ MRC Centre for Reproductive Health, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK.
¹⁰ Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu 225326, PRC.
¹¹ Shanghai Foreign Language School, Shanghai 200083, PRC.
¹² Forest Ridge School of the Sacred Heart, Bellevue, WA 98006, USA.
¹³ University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia.
¹⁴ QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
¹⁵ Psychology Department, La Trobe University, Melbourne, VIC, Australia.
¹⁶ WeGene, Shenzhen, Guangdong 518040, PRC.
¹⁷ 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.
¹⁸ Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
¹⁹ Center for Data Science in Health and Medicine, Peking University, Beijing 100191, PRC.
²⁰ Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, PRC.
²¹ Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
²² Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA.
²³ 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.
²⁴ 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.
²⁵ 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.
²⁶ Clinical Research Institute, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PRC.
²⁷ 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.
²⁸ The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK. Electronic address: denis.headon@roslin.ed.ac.uk.
²⁹ 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.

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.

Keywords: EVI1; fingerprint pattern; genetics; genome-wide association study; limb development; trans-ethnic meta-analysis.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Animals
Asian People / genetics
Body Patterning / genetics
Child
Cohort Studies
Dermatoglyphics*
Female
Fingers / growth & development*
Forelimb / growth & development
Genetic Loci
Genome-Wide Association Study
Humans
MDS1 and EVI1 Complex Locus Protein / genetics
Male
Mice
Middle Aged
Organogenesis / genetics*
Polymorphism, Single Nucleotide*
Toes / growth & development*
Young Adult

Substances

MDS1 and EVI1 Complex Locus Protein
MECOM protein, human
Mecom protein, mouse

Abstract

Publication types

MeSH terms

Substances

Grants and funding