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

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 KempYvonne 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

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

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.

Original language	English
Article number	95-112.e18
Pages (from-to)	95-112.e18
Journal	Cell
Volume	185
Issue number	1
DOIs	https://doi.org/10.1016/j.cell.2021.12.008
Publication status	Published - 6 Jan 2022

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10.1016/j.cell.2021.12.008

1-s2.0-S009286742101446X-mainFinal published version, 6.9 MBLicence: Creative Commons: Attribution (CC-BY)

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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., ... Wang, S. (2022). Limb development genes underlie variation in human fingerprint patterns. Cell, 185(1), 95-112.e18. Article 95-112.e18. https://doi.org/10.1016/j.cell.2021.12.008

@article{08187a71a1e041baa551f0bbe152c8a9,

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.",

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

year = "2022",

month = jan,

day = "6",

doi = "10.1016/j.cell.2021.12.008",

language = "English",

volume = "185",

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journal = "Cell",

issn = "0092-8674",

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Li, J, Glover, JD, Zhang, H, Peng, M, Tan, J, Mallick, CB, Hou, D, Yang, Y, Wu, S, Liu, Y, Peng, Q, Zheng, SC, Crosse, EI, Medvinsky, A , Anderson, RA , Brown, H, Yuan, Z, Zhou, S, Xu, Y, Kemp, JP, Ho, YYW, Loesch, DZ, Wang, L, Li, Y, Tang, S, Wu, X, Walters, RG, Lin, K, Meng, R, Lv, J, Chernus, JM, Neiswanger, K, Feingold, E, Evans, DM, Medland, SE, Martin, NG, Weinberg, SM, Marazita, ML, Chen, G, Chen, Z, Zhou, Y, Cheeseman, M, Wang, L, Jin, L, Headon, DJ & 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

TY - JOUR

T1 - Limb development genes underlie variation in human fingerprint patterns

AU - Li, Jinxi

AU - Glover, James D

AU - Zhang, Haiguo

AU - Peng, Meifang

AU - Tan, Jingze

AU - Mallick, Chandana Basu

AU - Hou, Dan

AU - Yang, Yajun

AU - Wu, Sijie

AU - Liu, Yu

AU - Peng, Qianqian

AU - Zheng, Shijie C

AU - Crosse, Edie I

AU - Medvinsky, Alexander

AU - Anderson, Richard A

AU - Brown, Helen

AU - Yuan, Ziyu

AU - Zhou, Shen

AU - Xu, Yanqing

AU - Kemp, John P

AU - Ho, Yvonne Y W

AU - Loesch, Danuta Z

AU - Wang, Lizhong

AU - Li, Yingxiang

AU - Tang, Senwei

AU - Wu, Xiaoli

AU - Walters, Robin G

AU - Lin, Kuang

AU - Meng, Ruogu

AU - Lv, Jun

AU - Chernus, Jonathan M

AU - Neiswanger, Katherine

AU - Feingold, Eleanor

AU - Evans, David M

AU - Medland, Sarah E

AU - Martin, Nicholas G

AU - Weinberg, Seth M

AU - Marazita, Mary L

AU - Chen, Gang

AU - Chen, Zhengming

AU - Zhou, Yong

AU - Cheeseman, Michael

AU - Wang, Lan

AU - Jin, Li

AU - Headon, Denis J

AU - Wang, Sijia

PY - 2022/1/6

Y1 - 2022/1/6

N2 - 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.

AB - 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.

U2 - 10.1016/j.cell.2021.12.008

DO - 10.1016/j.cell.2021.12.008

M3 - Article

C2 - 34995520

SN - 0092-8674

VL - 185

SP - 95-112.e18

JO - Cell

JF - Cell

IS - 1

M1 - 95-112.e18

ER -