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词条 Ectodysplasin A receptor
释义

  1. Function

  2. Clinical significance

  3. Derived EDAR allele

  4. See also

  5. References

  6. Further reading

  7. External links

{{Redirect|EDAR}}{{Infobox_gene}}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

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

  • Ectodysplasin A2 receptor

References

1. ^{{cite journal | vauthors = Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J | title = Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia | journal = Nature Genetics | volume = 22 | issue = 4 | pages = 366–9 | date = Aug 1999 | pmid = 10431241 | pmc = | doi = 10.1038/11937 }}
2. ^{{cite journal | vauthors = Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS | title = Autosomal dominant hypohidrotic ectodermal dysplasia in a large family | journal = American Journal of Medical Genetics | volume = 72 | issue = 4 | pages = 462–7 | date = Nov 1997 | pmid = 9375732 | pmc = | doi = 10.1002/(SICI)1096-8628(19971112)72:4<462::AID-AJMG17>3.0.CO;2-P }}
3. ^1 2 {{cite web | title = Entrez Gene: EDAR ectodysplasin A receptor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10913 }}
4. ^{{OMIM|604095}}
5. ^{{cite journal | vauthors = 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 | title = Modeling recent human evolution in mice by expression of a selected EDAR variant | journal = Cell | volume = 152 | issue = 4 | pages = 691–702 | date = Feb 2013 | pmid = 23415220 | pmc = 3575602 | doi = 10.1016/j.cell.2013.01.016 }}
6. ^{{cite news |last=Lozovschi |first=Alexandra |date=24 April 2018 |title=Ancient Teeth Reveal Breastfeeding-Related Gene Helped Early Americans Survive The Ice Age [Study] |url=https://www.inquisitr.com/4876126/ancient-teeth-reveal-breastfeeding-related-gene-helped-early-americans-survive-the-ice-age-study |work=Inquisitr |location= |access-date=25 April 2018}}
7. ^{{cite news|title=East Asian Physical Traits Linked to 35,000-Year-Old Mutation|url=https://www.nytimes.com/2013/02/15/science/studying-recent-human-evolution-at-the-genetic-level.html|accessdate=February 15, 2013|newspaper=The New York Times|date=February 14, 2013|author=Nicholas Wade}}
8. ^{{Cite journal|last=Hlusko|first=Leslea J.|last2=Carlson|first2=Joshua P.|last3=Chaplin|first3=George|last4=Elias|first4=Scott A.|last5=Hoffecker|first5=John F.|last6=Huffman|first6=Michaela|last7=Jablonski|first7=Nina G.|last8=Monson|first8=Tesla A.|last9=O’Rourke|first9=Dennis H.|date=2018-05-08|title=Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk|url=http://www.pnas.org/content/115/19/E4426|journal=Proceedings of the National Academy of Sciences|language=en|volume=115|issue=19|pages=E4426–E4432|doi=10.1073/pnas.1711788115|issn=0027-8424|pmid=29686092}}
9. ^{{cite journal|last1=Adhikari|first1=Kaustubh|title=A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation|journal=Nature Communications|date=19 May 2016|volume=7|doi=10.1038/ncomms11616|url=http://www.nature.com/ncomms/2016/160519/ncomms11616/full/ncomms11616.html|page=11616}}
10. ^{{cite journal|last1=Mathieson|first1=Iain|last2=Lazaridis|first2=Iosif|title=Genome-wide patterns of selection in 230 ancient Eurasians|journal=Nature|date=23 November 2015|doi=10.1038/nature16152|volume=528|issue=7583|pages=499–503|pmid=26595274|pmc=4918750}}
11. ^{{cite journal | last=Posth | first=Cosimo | last2=Nakatsuka | first2=Nathan | last3=Lazaridis | first3=Iosif | last4=Skoglund | first4=Pontus | last5=Mallick | first5=Swapan | last6=Lamnidis | first6=Thiseas C. | last7=Rohland | first7=Nadin | last8=Nägele | first8=Kathrin | last9=Adamski | first9=Nicole | last10=Bertolini | first10=Emilie | last11=Broomandkhoshbacht | first11=Nasreen | last12=Cooper | first12=Alan | last13=Culleton | first13=Brendan J. | last14=Ferraz | first14=Tiago | last15=Ferry | first15=Matthew | last16=Furtwängler | first16=Anja | last17=Haak | first17=Wolfgang | last18=Harkins | first18=Kelly | last19=Harper | first19=Thomas K. | last20=Hünemeier | first20=Tábita | last21=Lawson | first21=Ann Marie | last22=Llamas | first22=Bastien | last23=Michel | first23=Megan | last24=Nelson | first24=Elizabeth | last25=Oppenheimer | first25=Jonas | last26=Patterson | first26=Nick | last27=Schiffels | first27=Stephan | last28=Sedig | first28=Jakob | last29=Stewardson | first29=Kristin | last30=Talamo | first30=Sahra | last31=Wang | first31=Chuan-Chao | last32=Hublin | first32=Jean-Jacques | last33=Hubbe | first33=Mark | last34=Harvati | first34=Katerina | last35=Nuevo Delaunay | first35=Amalia | last36=Beier | first36=Judith | last37=Francken | first37=Michael | last38=Kaulicke | first38=Peter | last39=Reyes-Centeno | first39=Hugo | last40=Rademaker | first40=Kurt | last41=Trask | first41=Willa R. | last42=Robinson | first42=Mark | last43=Gutierrez | first43=Said M. | last44=Prufer | first44=Keith M. | last45=Salazar-García | first45=Domingo C. | last46=Chim | first46=Eliane N. | last47=Müller Plumm Gomes | first47=Lisiane | last48=Alves | first48=Marcony L. | last49=Liryo | first49=Andersen | last50=Inglez | first50=Mariana | last51=Oliveira | first51=Rodrigo E. | last52=Bernardo | first52=Danilo V. | last53=Barioni | first53=Alberto | last54=Wesolowski | first54=Veronica | last55=Scheifler | first55=Nahuel A. | last56=Rivera | first56=Mario A. | last57=Plens | first57=Claudia R. | last58=Messineo | first58=Pablo G. | last59=Figuti | first59=Levy | last60=Corach | first60=Daniel | last61=Scabuzzo | first61=Clara | last62=Eggers | first62=Sabine | last63=DeBlasis | first63=Paulo | last64=Reindel | first64=Markus | last65=Méndez | first65=César | last66=Politis | first66=Gustavo | last67=Tomasto-Cagigao | first67=Elsa | last68=Kennett | first68=Douglas J. | last69=Strauss | first69=André | last70=Fehren-Schmitz | first70=Lars | last71=Krause | first71=Johannes | last72=Reich | first72=David | title=Reconstructing the Deep Population History of Central and South America | journal=Cell | volume=175 | issue=5 | pages=1185–1197.e22 | publisher=Elsevier BV | year=2018 | issn=0092-8674 | doi=10.1016/j.cell.2018.10.027 | hdl=10550/67985 }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Thesleff I, Mikkola ML | title = Death receptor signaling giving life to ectodermal organs | journal = Science's STKE | volume = 2002 | issue = 131 | pages = PE22 | date = May 2002 | pmid = 11997580 | doi = 10.1126/stke.2002.131.pe22 }}
  • {{cite journal | vauthors = Ho L, Williams MS, Spritz RA | title = A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13 | journal = American Journal of Human Genetics | volume = 62 | issue = 5 | pages = 1102–6 | date = May 1998 | pmid = 9545409 | pmc = 1377096 | doi = 10.1086/301839 }}
  • {{cite journal | vauthors = Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM | title = The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A | journal = The Journal of Biological Chemistry | volume = 276 | issue = 4 | pages = 2668–77 | date = Jan 2001 | pmid = 11035039 | doi = 10.1074/jbc.M008356200 }}
  • {{cite journal | vauthors = Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, de Vos AM, Gao WQ, Dixit VM | title = Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors | journal = Science | volume = 290 | issue = 5491 | pages = 523–7 | date = Oct 2000 | pmid = 11039935 | doi = 10.1126/science.290.5491.523 }}
  • {{cite journal | vauthors = Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J | title = Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein | journal = Human Molecular Genetics | volume = 10 | issue = 9 | pages = 953–62 | date = Apr 2001 | pmid = 11309369 | doi = 10.1093/hmg/10.9.953 }}
  • {{cite journal | vauthors = Koppinen P, Pispa J, Laurikkala J, Thesleff I, Mikkola ML | title = Signaling and subcellular localization of the TNF receptor Edar | journal = Experimental Cell Research | volume = 269 | issue = 2 | pages = 180–92 | date = Oct 2001 | pmid = 11570810 | doi = 10.1006/excr.2001.5331 }}
  • {{cite journal | vauthors = Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, Zonana J, Overbeek PA | title = Gene defect in ectodermal dysplasia implicates a death domain adapter in development | journal = Nature | volume = 414 | issue = 6866 | pages = 913–6 | year = 2002 | pmid = 11780064 | doi = 10.1038/414913a }}
  • {{cite journal | vauthors = Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM | title = Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice | journal = Current Biology | volume = 12 | issue = 5 | pages = 409–13 | date = Mar 2002 | pmid = 11882293 | doi = 10.1016/S0960-9822(02)00687-5 }}
  • {{cite journal | vauthors = Sinha SK, Zachariah S, Quiñones HI, Shindo M, Chaudhary PM | title = Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor | journal = The Journal of Biological Chemistry | volume = 277 | issue = 47 | pages = 44953–61 | date = Nov 2002 | pmid = 12270937 | doi = 10.1074/jbc.M207923200 }}
  • {{cite journal | vauthors = Shu H, Chen S, Bi Q, Mumby M, Brekken DL | title = Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line | journal = Molecular & Cellular Proteomics | volume = 3 | issue = 3 | pages = 279–86 | date = Mar 2004 | pmid = 14729942 | doi = 10.1074/mcp.D300003-MCP200 }}
  • {{cite journal | vauthors = Zhang Z, Henzel WJ | title = Signal peptide prediction based on analysis of experimentally verified cleavage sites | journal = Protein Science | volume = 13 | issue = 10 | pages = 2819–24 | date = Oct 2004 | pmid = 15340161 | pmc = 2286551 | doi = 10.1110/ps.04682504 }}
  • {{cite journal | vauthors = Hashimoto T, Cui CY, Schlessinger D | title = Repertoire of mouse ectodysplasin-A (EDA-A) isoforms | journal = Gene | volume = 371 | issue = 1 | pages = 42–51 | date = Apr 2006 | pmid = 16423472 | doi = 10.1016/j.gene.2005.11.003 | url = https://zenodo.org/record/1258995/files/article.pdf }}
  • {{cite journal | vauthors = Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC | title = Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia | journal = Human Mutation | volume = 27 | issue = 3 | pages = 255–9 | date = Mar 2006 | pmid = 16435307 | doi = 10.1002/humu.20295 }}
  • {{cite journal | vauthors = Tariq M, Wasif N, Ahmad W | title = A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia | journal = The British Journal of Dermatology | volume = 157 | issue = 1 | pages = 207–9 | date = Jul 2007 | pmid = 17501952 | doi = 10.1111/j.1365-2133.2007.07949.x }}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/books/NBK1112/ GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia]
{{Cell surface receptors}}{{Cytokine receptor modulators}}{{gene-2-stub}}
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