Ectodysplasin A receptor

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Ectodysplasin A receptor
Identifiers
Symbols EDAR ; DL; ECTD10A; ECTD10B; ED1R; ED3; ED5; EDA-A1R; EDA1R; EDA3; HRM1
External IDs OMIM604095 MGI1343498 HomoloGene7699 IUPHAR: 2325 ChEMBL: 1250376 GeneCards: EDAR Gene
RNA expression pattern
PBB GE EDAR 220048 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10913 13608
Ensembl ENSG00000135960 ENSMUSG00000003227
UniProt Q9UNE0 Q9R187
RefSeq (mRNA) NM_022336 NM_010100
RefSeq (protein) NP_071731 NP_034230
Location (UCSC) Chr 2:
108.89 – 108.99 Mb
Chr 10:
58.6 – 58.68 Mb
PubMed search [1] [2]

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]

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.[3]

Clinical significance[edit]

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

East Asian characteristics[edit]

A point mutation in EDAR, 370A, found in most East Asians but not common in African or European populations, is thought to be 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.[5] 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.[6] 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.

See also[edit]

References[edit]

  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. ^ a b c "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. ^ Nicholas Wade (February 14, 2013). "East Asian Physical Traits Linked to 35,000-Year-Old Mutation". The New York Times. Retrieved February 15, 2013. 

Further reading[edit]

External links[edit]