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Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant

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Kamberov, Yana G., Wang, Sijia, Tan, Jingze, Gerbault, Pascale, Wark, Abigail, Tan, Longzhi, Yang, Yajun, Li, Shilin, Tang, Kun, Chen, Hua, Powell, Adam, Itan, Yuval, Fuller, Dorian, Lohmueller, Jason, Mao, Junhao, Schachar, Asa, Paymer, Madeline, Hostetter, Elizabeth, Byrne, Elizabeth, Burnett, Melissa, McMahon, Andrew P., Thomas, Mark G., Lieberman, Daniel E., Jin, Li, Tabin, Clifford J., Morgan, Bruce A., Sabeti, Pardis C.·2013·Cell
DOI 10.1016/j.cell.2013.01.016
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Abstract

Summary An adaptive variant of the human Ectodysplasin receptor, EDARV370A, is one of the strongest candidates of recent positive selection from genome-wide scans. We have modeled EDAR370A in mice and characterized its phenotype and evolutionary origins in humans. Our computational analysis suggests the allele arose in Central China approximately 30,000 years ago. Although EDAR370A has been associated with increased scalp hair thickness and changed tooth morphology in humans, its direct biological significance and potential adaptive role remain unclear. We generated a knock-in mouse model and find that, as in humans, hair thickness is increased in EDAR370A mice. We identify novel biological targets affected by the mutation, including mammary and eccrine glands. Building on these results, we find that EDAR370A is associated with an increased number of active eccrine glands in the Han Chinese. This interdisciplinary approach yields unique insight into the generation of adaptive variation among modern humans.

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Research works printed but not linked: 70

  1. Akey, 2009, Constructing genomic maps of positive selection in humans: where do we go from here?, Genome Res., 19, 711, 10.1101/gr.086652.108 · DOI · Paper page
  2. Anderson, 1983, The Reproductive Role of the Human Breast, Curr. Anthropol., 24, 25, 10.1086/202933 · DOI
  3. Beaumont, 2002, Approximate Bayesian computation in population genetics, Genetics, 162, 2025, 10.1093/genetics/162.4.2025 · DOI · Paper page
  4. Bertorelle, 2010, ABC as a flexible framework to estimate demography over space and time: some cons, many pros, Mol. Ecol., 19, 2609, 10.1111/j.1365-294X.2010.04690.x · DOI · Paper page
  5. Bramble, 2004, Endurance running and the evolution of Homo, Nature, 432, 345, 10.1038/nature03052 · DOI · Paper page
  6. Bryk, 2008, Positive selection in East Asians for an EDAR allele that enhances NF-kappaB activation, PLoS ONE, 3, e2209, 10.1371/journal.pone.0002209 · DOI
  7. Cann, 2002, A human genome diversity cell line panel, Science, 296, 261, 10.1126/science.296.5566.261b · DOI · Paper page
  8. Carrier, 1984, The Energetic Paradox of Human Running and Hominid Evolution, Curr. Anthropol., 25, 483, 10.1086/203165 · DOI · Paper page
  9. Carroll, 2008, Evo-devo and an expanding evolutionary synthesis: a genetic theory of morphological evolution, Cell, 134, 25, 10.1016/j.cell.2008.06.030 · DOI · Paper page
  10. Chang, 2009, Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands, PLoS ONE, 4, e7591, 10.1371/journal.pone.0007591 · DOI
  11. Chen, 2012, The joint allele frequency spectrum of multiple populations: a coalescent theory approach, Theor. Popul. Biol., 81, 179, 10.1016/j.tpb.2011.11.004 · DOI
  12. Chen, 2004, Does mammographic density reflect ethnic differences in breast cancer incidence rates?, Am. J. Epidemiol., 159, 140, 10.1093/aje/kwh028 · doi:10.1093/aje/kwh028
  13. Cluzeau, 2012, The EDAR370A allele attenuates the severity of hypohidrotic ectodermal dysplasia caused by EDA gene mutation, Br. J. Dermatol., 166, 678, 10.1111/j.1365-2133.2011.10620.x · DOI
  14. Cox, 2003, Rodent models of genetic disease, Curr. Opin. Genet. Dev., 13, 278, 10.1016/S0959-437X(03)00051-0 · DOI
  15. Cui, 2003, Inducible mEDA-A1 transgene mediates sebaceous gland hyperplasia and differential formation of two types of mouse hair follicles, Hum. Mol. Genet., 12, 2931, 10.1093/hmg/ddg325 · DOI
  16. Dixson, 2011, Men’s preferences for women’s breast morphology in New Zealand, Samoa, and Papua New Guinea, Arch. Sex. Behav., 40, 1271, 10.1007/s10508-010-9680-6 · DOI
  17. Enattah, 2002, Identification of a variant associated with adult-type hypolactasia, Nat. Genet., 30, 233, 10.1038/ng826 · DOI · Paper page
  18. Enshell-Seijffers, 2010, beta-catenin activity in the dermal papilla regulates morphogenesis and regeneration of hair, Dev. Cell, 18, 633, 10.1016/j.devcel.2010.01.016 · DOI · Paper page
  19. Fagundes, 2007, Statistical evaluation of alternative models of human evolution, Proc. Natl. Acad. Sci. USA, 104, 17614, 10.1073/pnas.0708280104 · DOI · Paper page
  20. Fujimoto, 2008, A replication study confirmed the EDAR gene to be a major contributor to population differentiation regarding head hair thickness in Asia, Hum. Genet., 124, 179, 10.1007/s00439-008-0537-1 · DOI
  21. Furnham, 1998, The Role of Body Weight, Waist-to-Hip Ratio, and Breast Size in Judgments of Female Attractiveness, Sex Roles, 39, 311, 10.1023/A:1018810723493 · DOI
  22. Furnham, 2006, Body weight, waist-to-hip ratio and breast size correlates of ratings of attractiveness and health, Pers. Individ. Dif., 41, 443, 10.1016/j.paid.2006.02.007 · DOI
  23. Goebel, 2008, The late Pleistocene dispersal of modern humans in the Americas, Science, 319, 1497, 10.1126/science.1153569 · DOI · Paper page
  24. Grossman, 2010, A composite of multiple signals distinguishes causal variants in regions of positive selection, Science, 327, 883, 10.1126/science.1183863 · DOI · Paper page
  25. Grüneberg, 1971, The glandular aspects of the tabby syndrome in the mouse, J. Embryol. Exp. Morphol., 25, 1
  26. Headon, 1999, Involvement of a novel Tnf receptor homologue in hair follicle induction, Nat. Genet., 22, 370, 10.1038/11943 · DOI · Paper page
  27. Jakobsson, 2008, Genotype, haplotype and copy-number variation in worldwide human populations, Nature, 451, 998, 10.1038/nature06742 · DOI · Paper page
  28. Juniper, 1964, Finger-tip sweat gland activity and salivary secretion as indices of anticholinergic drug effect, Am. J. Dig. Dis., 9, 31, 10.1007/BF02232677 · doi:10.1007/bf02232677
  29. Kimura, 2009, A common variation in EDAR is a genetic determinant of shovel-shaped incisors, Am. J. Hum. Genet., 85, 528, 10.1016/j.ajhg.2009.09.006 · DOI · Paper page
  30. Kondo, 2001, The medaka rs-3 locus required for scale development encodes ectodysplasin-A receptor, Curr. Biol., 11, 1202, 10.1016/S0960-9822(01)00324-4 · DOI · Paper page
  31. Kwiatkowski, 2005, How malaria has affected the human genome and what human genetics can teach us about malaria, Am. J. Hum. Genet., 77, 171, 10.1086/432519 · DOI · Paper page
  32. Li, 2008, Worldwide human relationships inferred from genome-wide patterns of variation, Science, 319, 1100, 10.1126/science.1153717 · DOI · Paper page
  33. Maskarinec, 2001, Ethnic differences in mammographic densities, Int. J. Epidemiol., 30, 959, 10.1093/ije/30.5.959 · DOI
  34. Mauldin, 2009, Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia, Am. J. Med. Genet. A., 149A, 2045, 10.1002/ajmg.a.32916 · DOI
  35. Mikkola, 2008, TNF superfamily in skin appendage development, Cytokine Growth Factor Rev., 19, 219, 10.1016/j.cytogfr.2008.04.008 · DOI
  36. Mikkola, 2011, The Edar subfamily in hair and exocrine gland development, Adv. Exp. Med. Biol., 691, 23, 10.1007/978-1-4419-6612-4_3 · DOI
  37. Mou, 2008, Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form, Hum. Mutat., 29, 1405, 10.1002/humu.20795 · DOI · Paper page
  38. Mustonen, 2003, Stimulation of ectodermal organ development by Ectodysplasin-A1, Dev. Biol., 259, 123, 10.1016/S0012-1606(03)00157-X · DOI · Paper page
  39. Neville, 1998, The mammary fat pad, J. Mammary Gland Biol. Neoplasia, 3, 109, 10.1023/A:1018786604818 · doi:10.1023/a:1018786604818
  40. O’Rourke, 2010, The human genetic history of the Americas: the final frontier, Curr. Biol., 20, R202, 10.1016/j.cub.2009.11.051 · DOI · Paper page
  41. Oftedal, 2002, The mammary gland and its origin during synapsid evolution, J. Mammary Gland Biol. Neoplasia, 7, 225, 10.1023/A:1022896515287 · DOI · Paper page
  42. Okada, 1983, Isolation of a viable eccrine sweat gland by dispase, Arch. Dermatol. Res., 275, 130, 10.1007/BF00412889 · doi:10.1007/bf00412889
  43. Park, 2012, Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits, J. Hum. Genet., 57, 508, 10.1038/jhg.2012.60 · DOI
  44. Prodi, 2008, EDA2R is associated with androgenetic alopecia, J. Invest. Dermatol., 128, 2268, 10.1038/jid.2008.60 · DOI
  45. Ramanathan, 2007, Genomewide analysis of secretory activation in mouse models, J. Mammary Gland Biol. Neoplasia, 12, 305, 10.1007/s10911-007-9052-6 · DOI
  46. Randall, 1946, Quantitation and regional distribution of sweat glands in man, J. Clin. Invest., 25, 761, 10.1172/JCI101760 · DOI · Paper page
  47. Ray, 2010, A statistical evaluation of models for the initial settlement of the american continent emphasizes the importance of gene flow with Asia, Mol. Biol. Evol., 27, 337, 10.1093/molbev/msp238 · DOI
  48. Scheet, 2006, A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase, Am. J. Hum. Genet., 78, 629, 10.1086/502802 · DOI · Paper page
  49. Sivakumaran, 2011, Abundant pleiotropy in human complex diseases and traits, Am. J. Hum. Genet., 89, 607, 10.1016/j.ajhg.2011.10.004 · DOI · Paper page
  50. Stern, 2000, Evolutionary developmental biology and the problem of variation, Evolution, 54, 1079, 10.1111/j.0014-3820.2000.tb00544.x · DOI · Paper page
  51. Sun, 2012, Influence of Atlantic meridional overturning circulation on the East Asian winter monsoon, Nat. Geosci., 5, 46, 10.1038/ngeo1326 · DOI · Paper page
  52. Voutilainen, 2012, Ectodysplasin regulates hormone-independent mammary ductal morphogenesis via NF-κB, Proc. Natl. Acad. Sci. USA, 109, 5744, 10.1073/pnas.1110627109 · DOI
  53. Wang, 2001, A high-resolution absolute-dated late Pleistocene Monsoon record from Hulu Cave, China, Science, 294, 2345, 10.1126/science.1064618 · DOI · Paper page
  54. Wang, 2009, Rationales, design and recruitment of the Taizhou Longitudinal Study, BMC Public Health, 9, 223, 10.1186/1471-2458-9-223 · DOI
  55. Yuan, 2004, Timing, duration, and transitions of the last interglacial Asian monsoon, Science, 304, 575, 10.1126/science.1091220 · DOI · Paper page
  56. Barrett, 2005, Haploview: analysis and visualization of LD and haplotype maps, Bioinformatics, 21, 263, 10.1093/bioinformatics/bth457 · DOI · Paper page
  57. Bocquet-Appel, 2006, Testing the Hypothesis of a Worldwide Neolithic Demographic Transition - Corroboration from American Cemeteries, Curr. Anthropol., 47, 341, 10.1086/498948 · DOI · Paper page
  58. Bustamante, 2001, Directional selection and the site-frequency spectrum, Genetics, 159, 1779, 10.1093/genetics/159.4.1779 · DOI · Paper page
  59. Carpenter, 2006, CellProfiler: image analysis software for identifying and quantifying cell phenotypes, Genome Biol., 7, R100, 10.1186/gb-2006-7-10-r100 · DOI · Paper page
  60. Charles, 2009, Distinct impacts of Eda and Edar loss of function on the mouse dentition, PLoS ONE, 4, e4985, 10.1371/journal.pone.0004985 · DOI
  61. Currat, 2004, Modern humans did not admix with Neanderthals during their range expansion into Europe, PLoS Biol., 2, e421, 10.1371/journal.pbio.0020421 · DOI · Paper page
  62. Etheridge, 2006, An approximate sampling formula under genetic hitchhiking, Ann. Appl. Probab., 16, 685, 10.1214/105051606000000114 · doi:10.1214/105051606000000114
  63. Luca, 2010, Evolutionary adaptations to dietary changes, Annu. Rev. Nutr., 30, 291, 10.1146/annurev-nutr-080508-141048 · DOI · Paper page
  64. Sawyer, 1992, Population genetics of polymorphism and divergence, Genetics, 132, 1161, 10.1093/genetics/132.4.1161 · DOI · Paper page
  65. Scobbie, 1987, Sweat pore count, hair density and tooth size: heritability and genetic correlation, Hum. Hered., 37, 349, 10.1159/000153733 · doi:10.1159/000153733
  66. Shi, 2008, Y chromosome evidence of earliest modern human settlement in East Asia and multiple origins of Tibetan and Japanese populations, BMC Biol., 6, 45, 10.1186/1741-7007-6-45 · DOI
  67. Stanyon, 2009, Timing the first human migration into eastern Asia, J. Biol., 8, 18, 10.1186/jbiol115 · doi:10.1186/jbiol115
  68. Wegmann, 2009, Efficient approximate Bayesian computation coupled with Markov chain Monte Carlo without likelihood, Genetics, 182, 1207, 10.1534/genetics.109.102509 · DOI · Paper page
  69. Xue, 2009, Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation, Genetics, 183, 1065, 10.1534/genetics.109.107722 · DOI
  70. Young, 1995, Simulating the global human expansion in the Late Pleistocene, J. Archaeol. Sci., 22, 89, 10.1016/S0305-4403(95)80165-0 · DOI

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Metadata

Authors
Kamberov, Y. G., Wang, S., Tan, J., Gerbault, P., Wark, A., Tan, L., Yang, Y., Li, S., Tang, K., Chen, H., Powell, A., Itan, Y., Fuller, D., Lohmueller, J., Mao, J., Schachar, A., Paymer, M., Hostetter, E., Byrne, E., Burnett, M., McMahon, A. P., Thomas, M. G., Lieberman, D. E., Jin, L., Tabin, C. J., Morgan, B. A., & Sabeti, P. C.
Venue
Cell
Publisher
Elsevier BV
Published
2013-02
Volume
152
Issue
4
Pages
691-702
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/j.cell.2013.01.016
OpenAlex
W2128865541
Cited by
276
References
20
FWCI
36.55
Type
journal article
Language
en
Open access
bronze
Licence

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CoChat. (2026). Citation check: Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant. https://app.cochat.ai/papers/10.1016/j.cell.2013.01.016
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Kamberov, Y. G., Wang, S., Tan, J., Gerbault, P., Wark, A., Tan, L., Yang, Y., Li, S., Tang, K., Chen, H., Powell, A., Itan, Y., Fuller, D., Lohmueller, J., Mao, J., Schachar, A., Paymer, M., Hostetter, E., Byrne, E., . . . Sabeti, P. C. (2013). Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant. Cell. https://doi.org/10.1016/j.cell.2013.01.016

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