Ectodysplasin A receptor

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Ectodysplasin A receptor (EDAR) is a protein that in humans is encoded by the EDAR gene. EDAR is a cell surface receptor for ectodysplasin A which plays an important role in the development of ectodermal tissues such as the skin.[1][2][3] It is structurally related to members of the TNF receptor superfamily.[4]


EDAR and other genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the proper formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.[3]

Clinical significance

Mutation in this gene have been associated with hypohidrotic ectodermal dysplasia, a disorder characterized by a lower density of sweat glands.[3]

Derived EDAR allele

A derived G-allele point mutation (SNP) with pleiotropic effects in EDAR, 370A or rs3827760, found in most modern East Asians and Native Americans but not common in African or European populations, is thought to be one of the key genes responsible for a number of differences between these populations, including the thicker hair, more numerous sweat glands, smaller breasts, and the Sinodont dentition (so-called shovel incisors) characteristic of East Asians.[5] It has been hypothesized that natural selection favored this allele during the last ice age in a population of people living in isolation in Beringia, as it may play a role in the synthesis of breast milk under Vitamin D-poor conditions.[6][7][8] The 370A mutation arose in humans approximately 30,000 years ago, and now is found in 93% of Han Chinese and in the majority of people in nearby Asian populations. This mutation is also implicated in ear morphology differences and reduced chin protrusion.[9] The derived G-allele is a mutation of the ancestral A-allele, the version found in most modern non-East Asian and non-Native American populations.

In a 2015 study, three (of six) ancient DNA samples (7,900-7,500 BP) from Motala, Sweden; two (3300–3000 BC) from the Afanasevo culture and one (400–200 BC) Scythian sample were found to carry the rs3827760 mutation.[10]

In a 2018 study, several ancient DNA samples from the Americas, including USR1 from the Upward Sun River site, Anzick-1, and the 9,600 BP individual from Lapa do Santo, were found to not carry the derived allele. This suggests that the increased frequency of the derived allele occurred independently in both East Asia and the Americas.[11]

See also


  1. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J (Aug 1999). "Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia". Nature Genetics. 22 (4): 366–9. doi:10.1038/11937. PMID 10431241.
  2. Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS (Nov 1997). "Autosomal dominant hypohidrotic ectodermal dysplasia in a large family". American Journal of Medical Genetics. 72 (4): 462–7. doi:10.1002/(SICI)1096-8628(19971112)72:4<462::AID-AJMG17>3.0.CO;2-P. PMID 9375732.
  3. 3.0 3.1 3.2 "Entrez Gene: EDAR ectodysplasin A receptor".
  4. Online Mendelian Inheritance in Man (OMIM) 604095
  5. Kamberov YG, 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 AP, Thomas MG, Lieberman DE, Jin L, Tabin CJ, Morgan BA, Sabeti PC (Feb 2013). "Modeling recent human evolution in mice by expression of a selected EDAR variant". Cell. 152 (4): 691–702. doi:10.1016/j.cell.2013.01.016. PMC 3575602. PMID 23415220.
  6. Lozovschi, Alexandra (24 April 2018). "Ancient Teeth Reveal Breastfeeding-Related Gene Helped Early Americans Survive The Ice Age [Study]". Inquisitr. Retrieved 25 April 2018.
  7. Nicholas Wade (February 14, 2013). "East Asian Physical Traits Linked to 35,000-Year-Old Mutation". The New York Times. Retrieved February 15, 2013.
  8. Hlusko, Leslea J.; Carlson, Joshua P.; Chaplin, George; Elias, Scott A.; Hoffecker, John F.; Huffman, Michaela; Jablonski, Nina G.; Monson, Tesla A.; O’Rourke, Dennis H. (2018-05-08). "Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk". Proceedings of the National Academy of Sciences. 115 (19): E4426–E4432. doi:10.1073/pnas.1711788115. ISSN 0027-8424. PMID 29686092.
  9. Adhikari, Kaustubh (19 May 2016). "A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation". Nature Communications. 7: 11616. doi:10.1038/ncomms11616.
  10. Mathieson, Iain; Lazaridis, Iosif (23 November 2015). "Genome-wide patterns of selection in 230 ancient Eurasians". Nature. 528: 499–503. doi:10.1038/nature16152. PMC 4918750. PMID 26595274.
  11. Posth, Cosimo; Nakatsuka, Nathan; Lazaridis, Iosif; Skoglund, Pontus; Mallick, Swapan; Lamnidis, Thiseas C.; Rohland, Nadin; Nägele, Kathrin; Adamski, Nicole; Bertolini, Emilie; Broomandkhoshbacht, Nasreen; Cooper, Alan; Culleton, Brendan J.; Ferraz, Tiago; Ferry, Matthew; Furtwängler, Anja; Haak, Wolfgang; Harkins, Kelly; Harper, Thomas K.; Hünemeier, Tábita; Lawson, Ann Marie; Llamas, Bastien; Michel, Megan; Nelson, Elizabeth; Oppenheimer, Jonas; Patterson, Nick; Schiffels, Stephan; Sedig, Jakob; Stewardson, Kristin; Talamo, Sahra; Wang, Chuan-Chao; Hublin, Jean-Jacques; Hubbe, Mark; Harvati, Katerina; Nuevo Delaunay, Amalia; Beier, Judith; Francken, Michael; Kaulicke, Peter; Reyes-Centeno, Hugo; Rademaker, Kurt; Trask, Willa R.; Robinson, Mark; Gutierrez, Said M.; Prufer, Keith M.; Salazar-García, Domingo C.; Chim, Eliane N.; Müller Plumm Gomes, Lisiane; Alves, Marcony L.; Liryo, Andersen; Inglez, Mariana; Oliveira, Rodrigo E.; Bernardo, Danilo V.; Barioni, Alberto; Wesolowski, Veronica; Scheifler, Nahuel A.; Rivera, Mario A.; Plens, Claudia R.; Messineo, Pablo G.; Figuti, Levy; Corach, Daniel; Scabuzzo, Clara; Eggers, Sabine; DeBlasis, Paulo; Reindel, Markus; Méndez, César; Politis, Gustavo; Tomasto-Cagigao, Elsa; Kennett, Douglas J.; Strauss, André; Fehren-Schmitz, Lars; Krause, Johannes; Reich, David (2018). "Reconstructing the Deep Population History of Central and South America". Cell. Elsevier BV. doi:10.1016/j.cell.2018.10.027. ISSN 0092-8674.

Further reading

External links