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Limb development genes underlie variation in human fingerprint patterns.
Li, Jinxi; Glover, James D; Zhang, Haiguo; Peng, Meifang; Tan, Jingze; Mallick, Chandana Basu; Hou, Dan; Yang, Yajun; Wu, Sijie; Liu, Yu; Peng, Qianqian; Zheng, Shijie C; Crosse, Edie I; Medvinsky, Alexander; Anderson, Richard A; Brown, Helen; Yuan, Ziyu; Zhou, Shen; Xu, Yanqing; Kemp, John P; Ho, Yvonne Y W; Loesch, Danuta Z; Wang, Lizhong; Li, Yingxiang; Tang, Senwei; Wu, Xiaoli; Walters, Robin G; Lin, Kuang; Meng, Ruogu; Lv, Jun; Chernus, Jonathan M; Neiswanger, Katherine; Feingold, Eleanor; Evans, David M; Medland, Sarah E; Martin, Nicholas G; Weinberg, Seth M; Marazita, Mary L; Chen, Gang; Chen, Zhengming; Zhou, Yong; Cheeseman, Michael; Wang, Lan; Jin, Li; Headon, Denis J; Wang, Sijia.
Affiliation
  • Li 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
  • Glover JD; The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
  • Zhang 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; 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, Sch
  • Tan 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; 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; 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; 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; 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
  • Liu 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; 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; 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; Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
  • Medvinsky A; Centre for Regenerative Medicine, University of Edinburgh, Edinburgh, UK.
  • Anderson RA; MRC Centre for Reproductive Health, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK.
  • Brown H; The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
  • Yuan Z; Fudan-Taizhou Institute of Health Sciences, Taizhou, Jiangsu 225326, PRC.
  • Zhou S; Shanghai Foreign Language School, Shanghai 200083, PRC.
  • Xu Y; Forest Ridge School of the Sacred Heart, Bellevue, WA 98006, USA.
  • Kemp JP; University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia.
  • Ho YYW; QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
  • Loesch DZ; Psychology Department, La Trobe University, Melbourne, VIC, Australia.
  • Wang L; WeGene, Shenzhen, Guangdong 518040, PRC.
  • Li Y; WeGene, Shenzhen, Guangdong 518040, PRC.
  • Tang S; WeGene, Shenzhen, Guangdong 518040, PRC.
  • Wu X; WeGene, Shenzhen, Guangdong 518040, PRC.
  • Walters 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; Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
  • Meng R; Center for Data Science in Health and Medicine, Peking University, Beijing 100191, PRC.
  • Lv J; Department of Epidemiology and Biostatistics, School of Public Health, Peking University Health Science Center, Beijing 100191, PRC.
  • Chernus JM; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
  • Neiswanger K; Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, University of Pittsburgh, Pittsburgh, PA 15219, USA.
  • Feingold E; Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA 15261, USA.
  • Evans 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; QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
  • Martin NG; QIMR Berghofer Medical Rese Institute, Brisbane, QLD, Australia.
  • Weinberg 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 1526
  • Marazita 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,
  • Chen G; WeGene, Shenzhen, Guangdong 518040, PRC.
  • Chen 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; Clinical Research Institute, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PRC.
  • Cheeseman M; The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
  • Wang 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; 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
  • Headon 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; 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
Cell ; 185(1): 95-112.e18, 2022 01 06.
Article in En | MEDLINE | ID: mdl-34995520
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.
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Full text: 1 Database: MEDLINE Main subject: Toes / Polymorphism, Single Nucleotide / Organogenesis / Dermatoglyphics / Fingers Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Cell Year: 2022 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Toes / Polymorphism, Single Nucleotide / Organogenesis / Dermatoglyphics / Fingers Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Aged80 / Animals / Child / Female / Humans / Male / Middle aged Language: En Journal: Cell Year: 2022 Type: Article