Limb development genes underlie variation in human fingerprint patterns
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Adult
Male Adolescent Organogenesis fingerprint pattern Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology Article Cohort Studies Fingers Mice Young Adult Asian People Forelimb Animals Humans genetics Dermatoglyphics Child Aged Body Patterning Aged 80 and over genome-wide association study Middle Aged Toes MDS1 and EVI1 Complex Locus Protein EVI1 Genetic Loci limb development Female trans-ethnic meta-analysis |
| Zdroj: | Li, J, Glover, J D, Zhang, H, Peng, M, Tan, J, Mallick, C B, Hou, D, Yang, Y, Wu, S, Liu, Y, Peng, Q, Zheng, S C, Crosse, E I, Medvinsky, A, Anderson, R A, Brown, H, Yuan, Z, Zhou, S, Xu, Y, Kemp, J P, Ho, Y Y W, Loesch, D Z, Wang, L, Li, Y, Tang, S, Wu, X, Walters, R G, Lin, K, Meng, R, Lv, J, Chernus, J M, Neiswanger, K, Feingold, E, Evans, D M, Medland, S E, Martin, N G, Weinberg, S M, Marazita, M L, Chen, G, Chen, Z, Zhou, Y, Cheeseman, M, Wang, L, Jin, L, Headon, D J & Wang, S 2022, ' Limb development genes underlie variation in human fingerprint patterns ', Cell, vol. 185, no. 1, 95-112.e18, pp. 95-112.e18 . https://doi.org/10.1016/j.cell.2021.12.008 Cell |
| Popis: | Summary 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. Graphical abstract Highlights • GWAS identifies variants associated with fingerprint type across all digits • Fingerprint-associated genes are strongly enriched for limb development functions • Evi1 alters dermatoglyphs in mice by modulating limb rather than skin development • Fingerprint patterns are genetically correlated with hand and finger proportions Genome-wide association scans in Han Chinese individuals and a trans-ethnic meta-analysis reveal genetic regions that are associated with specific fingerprint patterning; functional studies in mouse models confirm a role of EVI1 in early limb development and ridge patterning. |
| Databáze: | OpenAIRE |
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