Ectodysplasin A receptor

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EDAR
Identifiers
Aliases EDAR, DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1, ectodysplasin A receptor
External IDs MGI: 1343498 HomoloGene: 7699 GeneCards: 10913
RNA expression pattern
PBB GE EDAR 220048 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022336

NM_010100

RefSeq (protein)

NP_071731.1

NP_034230.1

Location (UCSC) Chr 2: 108.89 – 108.99 Mb Chr 10: 58.6 – 58.68 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4][5] It is structurally related to members of the TNF receptor superfamily.[6]

Function[edit]

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.[5]

Clinical significance[edit]

Mutation in this gene have been associated with hypohidrotic ectodermal dysplasia, a disorder characterized by a lower density of sweat glands.[5]

Derived EDAR allele[edit]

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 dentition characteristic of East Asians.[7] The difference in dentition was not visible in mice due to the radically different structure of mice from human teeth, but it is considered reasonable that that difference also is due to the mutation.[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 protusion.[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]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b c "Entrez Gene: EDAR ectodysplasin A receptor". 
  6. ^ Online 'Mendelian Inheritance in Man' (OMIM) 604095
  7. ^ 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 3575602free to read. PMID 23415220. 
  8. ^ Nicholas Wade (February 14, 2013). "East Asian Physical Traits Linked to 35,000-Year-Old Mutation". The New York Times. Retrieved February 15, 2013. 
  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. 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. 

Further reading[edit]

External links[edit]