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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.

SUBMITTER: Li J

PROVIDER: S-EPMC8740935 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature

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Limb development genes underlie variation in human fingerprint patterns.

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

Cell 20220101 1

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 ...[more]

PMID: 34995520

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Project description:How the genotype translates into the phenotype through development is critical to fully understand the evolution of phenotypes. We propose a novel approach to directly assess how changes in gene expression patterns are associated with changes in morphology using the limb as a case example. Our method combines molecular biology techniques, such as whole-mount in situ hybridization, with image and shape analysis, extending the use of Geometric Morphometrics to the analysis of nonanatomical shapes, such as gene expression domains. Elliptical Fourier and Procrustes-based semilandmark analyses were used to analyze the variation and covariation patterns of the limb bud shape with the expression patterns of two relevant genes for limb morphogenesis, Hoxa11 and Hoxa13. We devised a multiple thresholding method to semiautomatically segment gene domains at several expression levels in large samples of limb buds from C57Bl6 mouse embryos between 10 and 12 postfertilization days. Besides providing an accurate phenotyping tool to quantify the spatiotemporal dynamics of gene expression patterns within developing structures, our morphometric analyses revealed high, non-random, and gene-specific variation undergoing canalization during limb development. Our results demonstrate that Hoxa11 and Hoxa13, despite being paralogs with analogous functions in limb patterning, show clearly distinct dynamic patterns, both in shape and size, and are associated differently with the limb bud shape. The correspondence between our results and already well-established molecular processes underlying limb development confirms that this morphometric approach is a powerful tool to extract features of development regulating morphogenesis. Such multilevel analyses are promising in systems where not so much molecular information is available and will advance our understanding of the genotype-phenotype map. In systematics, this knowledge will increase our ability to infer how evolution modified a common developmental pattern to generate a wide diversity of morphologies, as in the vertebrate limb.

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Limb development genes underlie variation in human fingerprint patterns.

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Limb development genes underlie variation in human fingerprint patterns.

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