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Ectodysplasin A receptor

May 04, 2023

"EDAR" redirects here. For other uses, see EDAR (disambiguation).

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 ancient and modern East Asians, Southeast Asians, Nepalese[5] 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.[6]

A 2013 study suggested that the EDAR variant (370A) arose about 35,000 years ago in central China, period during which the region was then quite warm and humid. However a more recent study from 2021, based on ancient DNA samples, has suggested that the derived variant actually arose shortly after the Last Glacial Maximum in Northeast Asia, around 19,000 years ago. All ancient East Asian remains after the LGM have the derived EDAR allele.[7]

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.[8][9][10] One study suggested that because the EDAR mutation arose in a cool and dry environment, it may have been adaptive by increasing skin lubrication, thus reducing dryness in exposed facial structures.[11]

The 370A mutation is found in 60-90% of Han Chinese and in the majority of people in nearby Asian populations of very specific demographic haplogroups. This mutation is also implicated in ear morphology differences and reduced chin protrusion.[12] The derived G-allele is a variation of the A-allele in earlier hominids, the version found in most modern non-East Asian and non-Native American populations and is found in 100% of Native American skeletal remains within all Native American haplogroups which studies have been done on prior to all contract for foreign population from Africa, Europe, or Asia. The derived allele was present in both the Tibeto-Burman (Magar and Newar) and Indo-European (Brahmin) populations of Nepal. The highest 1540C allele frequency was observed in Magar (71%), followed by Newar (30%) and Brahmin (20%).[5]

Derived variants of EDAR are associated with multiple facial and dental characteristics.[13][14]

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.[15]

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.[16]

See also

References

  1. ^ Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J (August 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. S2CID 11348633.
  2. ^ Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS (November 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. ^ a b Basnet, Rajdip; Rai, Niraj; Tamang, Rakesh; Awasthi, Nagendra Prasad; Pradhan, Isha; Parajuli, Pawan; Kashyap, Deepak; Reddy, Alla Govardhan; Chaubey, Gyaneshwer; Das Manandhar, Krishna; Shrestha, Tilak Ram; Thangaraj, Kumarasamy (2022-10-15). "The matrilineal ancestry of Nepali populations". Human Genetics. 142 (2): 167–180. doi:10.1007/s00439-022-02488-z. ISSN 0340-6717. PMID 36242641. S2CID 252904281.
  6. ^ Kamberov YG, Wang S, Tan J, Gerbault P, Wark A, Tan L, et al. (February 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.
  7. ^ Zhang, Xiaoming; Ji, Xueping; Li, Chunmei; Yang, Tingyu; Huang, Jiahui; Zhao, Yinhui; Wu, Yun; Ma, Shiwu; Pang, Yuhong; Huang, Yanyi; He, Yaoxi; Su, Bing (25 July 2022). "A Late Pleistocene human genome from Southwest China". Current Biology. 32 (14): 3095–3109.e5. doi:10.1016/j.cub.2022.06.016. ISSN 0960-9822. PMID 35839766. S2CID 250502011.
  8. ^ Lozovschi, Alexandra (24 April 2018). "Ancient Teeth Reveal Breastfeeding-Related Gene Helped Early Americans Survive The Ice Age [Study]". Inquisitr. Retrieved 25 April 2018.
  9. ^ Nicholas Wade (February 14, 2013). "East Asian Physical Traits Linked to 35,000-Year-Old Mutation". The New York Times. Retrieved February 15, 2013.
  10. ^ Hlusko LJ, Carlson JP, Chaplin G, Elias SA, Hoffecker JF, Huffman M, et al. (May 2018). "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 of the United States of America. 115 (19): E4426–E4432. Bibcode:2018PNAS..115E4426H. doi:10.1073/pnas.1711788115. PMC 5948952. PMID 29686092.
  11. ^ Chang, Shie Hong; Jobling, Stephanie; Brennan, Keith; Headon, Denis J. (26 October 2009). "Enhanced Edar Signalling Has Pleiotropic Effects on Craniofacial and Cutaneous Glands". PLOS ONE. 4 (10): e7591. Bibcode:2009PLoSO...4.7591C. doi:10.1371/journal.pone.0007591. ISSN 1932-6203. PMC 2762540. PMID 19855838. "As this allele attained high frequency in an environment that was notably cold and dry, increased glandular secretions could represent a trait that was positively selected to achieve increased lubrication and reduced evaporation from exposed facial structures and upper airways"
  12. ^ Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, Mendoza-Revilla J, Camilo Chacón-Duque J, Acuña-Alonzo V, et al. (May 2016). "A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation". Nature Communications. 7: 11616. Bibcode:2016NatCo...711616A. doi:10.1038/ncomms11616. PMC 4874031. PMID 27193062.
  13. ^ Adhikari, Kaustubh; Fuentes-Guajardo, Macarena; Quinto-Sánchez; Mendoza-Revilla; Camilo Chacón-Duque (2016). "A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation". Nature Communications. 7 (1): 11616. Bibcode:2016NatCo...711616A. doi:10.1038/ncomms11616. ISSN 2041-1723. PMC 4874031. PMID 27193062.
  14. ^ Wang, Chuan-Chao; Yeh, Hui-Yuan; Popov, Alexander N.; Zhang, Hu-Qin; Matsumura, Hirofumi; Sirak, Kendra; Cheronet, Olivia; Kovalev, Alexey; Rohland, Nadin; Kim, Alexander M.; Mallick, Swapan; Bernardos, Rebecca; Tumen, Dashtseveg; Zhao, Jing; Liu, Yi-Chang; Liu, Jiun-Yu; Mah, Matthew; Wang, Ke; Zhang, Zhao; Adamski, Nicole; Broomandkhoshbacht, Nasreen; Callan, Kimberly; Candilio, Francesca; Carlson, Kellie Sara Duffett; Culleton, Brendan J.; Eccles, Laurie; Freilich, Suzanne; Keating, Denise; Lawson, Ann Marie; Mandl, Kirsten; Michel, Megan; Oppenheimer, Jonas; Özdoğan, Kadir Toykan; Stewardson, Kristin; Wen, Shaoqing; Yan, Shi; Zalzala, Fatma; Chuang, Richard; Huang, Ching-Jung; Looh, Hana; Shiung, Chung-Ching; Nikitin, Yuri G.; Tabarev, Andrei V.; Tishkin, Alexey A.; Lin, Song; Sun, Zhou-Yong; Wu, Xiao-Ming; Yang, Tie-Lin; Hu, Xi; Chen, Liang; Du, Hua; Bayarsaikhan, Jamsranjav; Mijiddorj, Enkhbayar; Erdenebaatar, Diimaajav; Iderkhangai, Tumur-Ochir; Myagmar, Erdene; Kanzawa-Kiriyama, Hideaki; Nishino, Masato; Shinoda, Ken-ichi; Shubina, Olga A.; Guo, Jianxin; Cai, Wangwei; Deng, Qiongying; Kang, Longli; Li, Dawei; Li, Dongna; Lin, Rong; Shrestha, Rukesh; Wang, Ling-Xiang; Wei, Lanhai; Xie, Guangmao; Yao, Hongbing; Zhang, Manfei; He, Guanglin; Yang, Xiaomin; Hu, Rong; Robbeets, Martine; Schiffels, Stephan; Kennett, Douglas J.; Jin, Li; Li, Hui; Krause, Johannes; Pinhasi, Ron; Reich, David (March 2021). "Genomic insights into the formation of human populations in East Asia". Nature. 591 (7850): 413–419. Bibcode:2021Natur.591..413W. doi:10.1038/s41586-021-03336-2. ISSN 1476-4687. PMC 7993749. PMID 33618348.
  15. ^ Mathieson I, Lazaridis I, Rohland N, Mallick S, Patterson N, Roodenberg SA, et al. (December 2015). "Genome-wide patterns of selection in 230 ancient Eurasians". Nature. 528 (7583): 499–503. Bibcode:2015Natur.528..499M. doi:10.1038/nature16152. PMC 4918750. PMID 26595274.
  16. ^ Posth C, Nakatsuka N, Lazaridis I, Skoglund P, Mallick S, Lamnidis TC, et al. (November 2018). "Reconstructing the Deep Population History of Central and South America". Cell. Elsevier BV. 175 (5): 1185–1197.e22. doi:10.1016/j.cell.2018.10.027. hdl:10550/67985. PMC 6327247. PMID 30415837.

Further reading

  • Thesleff I, Mikkola ML (May 2002). "Death receptor signaling giving life to ectodermal organs". Science's STKE. 2002 (131): pe22. doi:10.1126/stke.2002.131.pe22. PMID 11997580. S2CID 36068881.
  • Ho L, Williams MS, Spritz RA (May 1998). "A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13". American Journal of Human Genetics. 62 (5): 1102–6. doi:10.1086/301839. PMC 1377096. PMID 9545409.
  • Kumar A, Eby MT, Sinha S, Jasmin A, Chaudhary PM (January 2001). "The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A". The Journal of Biological Chemistry. 276 (4): 2668–77. doi:10.1074/jbc.M008356200. PMID 11035039.
  • Yan M, Wang LC, Hymowitz SG, Schilbach S, Lee J, Goddard A, et al. (October 2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science. 290 (5491): 523–7. Bibcode:2000Sci...290..523Y. doi:10.1126/science.290.5491.523. PMID 11039935.
  • Elomaa O, Pulkkinen K, Hannelius U, Mikkola M, Saarialho-Kere U, Kere J (April 2001). "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein". Human Molecular Genetics. 10 (9): 953–62. doi:10.1093/hmg/10.9.953. PMID 11309369.
  • Koppinen P, Pispa J, Laurikkala J, Thesleff I, Mikkola ML (October 2001). "Signaling and subcellular localization of the TNF receptor Edar". Experimental Cell Research. 269 (2): 180–92. doi:10.1006/excr.2001.5331. PMID 11570810.
  • Headon DJ, Emmal SA, Ferguson BM, Tucker AS, Justice MJ, Sharpe PT, et al. (2002). "Gene defect in ectodermal dysplasia implicates a death domain adapter in development". Nature. 414 (6866): 913–6. doi:10.1038/414913a. PMID 11780064. S2CID 4380080.
  • Yan M, Zhang Z, Brady JR, Schilbach S, Fairbrother WJ, Dixit VM (March 2002). "Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice". Current Biology. 12 (5): 409–13. doi:10.1016/S0960-9822(02)00687-5. PMID 11882293. S2CID 9911697.
  • Sinha SK, Zachariah S, Quiñones HI, Shindo M, Chaudhary PM (November 2002). "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor". The Journal of Biological Chemistry. 277 (47): 44953–61. doi:10.1074/jbc.M207923200. PMID 12270937.
  • Shu H, Chen S, Bi Q, Mumby M, Brekken DL (March 2004). "Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line". Molecular & Cellular Proteomics. 3 (3): 279–86. doi:10.1074/mcp.D300003-MCP200. PMID 14729942.
  • Zhang Z, Henzel WJ (October 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Science. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
  • Hashimoto T, Cui CY, Schlessinger D (April 2006). "Repertoire of mouse ectodysplasin-A (EDA-A) isoforms". Gene. 371 (1): 42–51. doi:10.1016/j.gene.2005.11.003. PMID 16423472.
  • Chassaing N, Bourthoumieu S, Cossee M, Calvas P, Vincent MC (March 2006). "Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia". Human Mutation. 27 (3): 255–9. doi:10.1002/humu.20295. PMID 16435307. S2CID 32110651.
  • Tariq M, Wasif N, Ahmad W (July 2007). "A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia". The British Journal of Dermatology. 157 (1): 207–9. doi:10.1111/j.1365-2133.2007.07949.x. PMID 17501952. S2CID 310090.

External links

  • GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia

May 04, 2023
ectodysplasin, receptor, edar, redirects, here, other, uses, edar, disambiguation, edar, protein, that, humans, encoded, edar, gene, edar, cell, surface, receptor, ectodysplasin, which, plays, important, role, development, ectodermal, tissues, such, skin, stru. EDAR redirects here For other uses see EDAR disambiguation 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 Contents 1 Function 2 Clinical significance 3 Derived EDAR allele 4 See also 5 References 6 Further reading 7 External linksFunction EditEDAR 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 EditMutation in this gene have been associated with hypohidrotic ectodermal dysplasia a disorder characterized by a lower density of sweat glands 3 Derived EDAR allele EditA derived G allele point mutation SNP with pleiotropic effects in EDAR 370A or rs3827760 found in ancient and modern East Asians Southeast Asians Nepalese 5 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 6 A 2013 study suggested that the EDAR variant 370A arose about 35 000 years ago in central China period during which the region was then quite warm and humid However a more recent study from 2021 based on ancient DNA samples has suggested that the derived variant actually arose shortly after the Last Glacial Maximum in Northeast Asia around 19 000 years ago All ancient East Asian remains after the LGM have the derived EDAR allele 7 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 8 9 10 One study suggested that because the EDAR mutation arose in a cool and dry environment it may have been adaptive by increasing skin lubrication thus reducing dryness in exposed facial structures 11 The 370A mutation is found in 60 90 of Han Chinese and in the majority of people in nearby Asian populations of very specific demographic haplogroups This mutation is also implicated in ear morphology differences and reduced chin protrusion 12 The derived G allele is a variation of the A allele in earlier hominids the version found in most modern non East Asian and non Native American populations and is found in 100 of Native American skeletal remains within all Native American haplogroups which studies have been done on prior to all contract for foreign population from Africa Europe or Asia The derived allele was present in both the Tibeto Burman Magar and Newar and Indo European Brahmin populations of Nepal The highest 1540C allele frequency was observed in Magar 71 followed by Newar 30 and Brahmin 20 5 Derived variants of EDAR are associated with multiple facial and dental characteristics 13 14 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 15 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 16 See also EditEctodysplasin A2 receptorReferences Edit Monreal AW Ferguson BM Headon DJ Street SL Overbeek PA Zonana J August 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 S2CID 11348633 Aswegan AL Josephson KD Mowbray R Pauli RM Spritz RA Williams MS November 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 lt 462 AID AJMG17 gt 3 0 CO 2 P PMID 9375732 a b c Entrez Gene EDAR ectodysplasin A receptor Online Mendelian Inheritance in Man OMIM 604095 a b Basnet Rajdip Rai Niraj Tamang Rakesh Awasthi Nagendra Prasad Pradhan Isha Parajuli Pawan Kashyap Deepak Reddy Alla Govardhan Chaubey Gyaneshwer Das Manandhar Krishna Shrestha Tilak Ram Thangaraj Kumarasamy 2022 10 15 The matrilineal ancestry of Nepali populations Human Genetics 142 2 167 180 doi 10 1007 s00439 022 02488 z ISSN 0340 6717 PMID 36242641 S2CID 252904281 Kamberov YG Wang S Tan J Gerbault P Wark A Tan L et al February 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 Zhang Xiaoming Ji Xueping Li Chunmei Yang Tingyu Huang Jiahui Zhao Yinhui Wu Yun Ma Shiwu Pang Yuhong Huang Yanyi He Yaoxi Su Bing 25 July 2022 A Late Pleistocene human genome from Southwest China Current Biology 32 14 3095 3109 e5 doi 10 1016 j cub 2022 06 016 ISSN 0960 9822 PMID 35839766 S2CID 250502011 Lozovschi Alexandra 24 April 2018 Ancient Teeth Reveal Breastfeeding Related Gene Helped Early Americans Survive The Ice Age Study Inquisitr Retrieved 25 April 2018 Nicholas Wade February 14 2013 East Asian Physical Traits Linked to 35 000 Year Old Mutation The New York Times Retrieved February 15 2013 Hlusko LJ Carlson JP Chaplin G Elias SA Hoffecker JF Huffman M et al May 2018 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 of the United States of America 115 19 E4426 E4432 Bibcode 2018PNAS 115E4426H doi 10 1073 pnas 1711788115 PMC 5948952 PMID 29686092 Chang Shie Hong Jobling Stephanie Brennan Keith Headon Denis J 26 October 2009 Enhanced Edar Signalling Has Pleiotropic Effects on Craniofacial and Cutaneous Glands PLOS ONE 4 10 e7591 Bibcode 2009PLoSO 4 7591C doi 10 1371 journal pone 0007591 ISSN 1932 6203 PMC 2762540 PMID 19855838 As this allele attained high frequency in an environment that was notably cold and dry increased glandular secretions could represent a trait that was positively selected to achieve increased lubrication and reduced evaporation from exposed facial structures and upper airways Adhikari K Fuentes Guajardo M Quinto Sanchez M Mendoza Revilla J Camilo Chacon Duque J Acuna Alonzo V et al May 2016 A genome wide association scan implicates DCHS2 RUNX2 GLI3 PAX1 and EDAR in human facial variation Nature Communications 7 11616 Bibcode 2016NatCo 711616A doi 10 1038 ncomms11616 PMC 4874031 PMID 27193062 Adhikari Kaustubh Fuentes Guajardo Macarena Quinto Sanchez Mendoza Revilla Camilo Chacon Duque 2016 A genome wide association scan implicates DCHS2 RUNX2 GLI3 PAX1 and EDAR in human facial variation Nature Communications 7 1 11616 Bibcode 2016NatCo 711616A doi 10 1038 ncomms11616 ISSN 2041 1723 PMC 4874031 PMID 27193062 Wang Chuan Chao Yeh Hui Yuan Popov Alexander N Zhang Hu Qin Matsumura Hirofumi Sirak Kendra Cheronet Olivia Kovalev Alexey Rohland Nadin Kim Alexander M Mallick Swapan Bernardos Rebecca Tumen Dashtseveg Zhao Jing Liu Yi Chang Liu Jiun Yu Mah Matthew Wang Ke Zhang Zhao Adamski Nicole Broomandkhoshbacht Nasreen Callan Kimberly Candilio Francesca Carlson Kellie Sara Duffett Culleton Brendan J Eccles Laurie Freilich Suzanne Keating Denise Lawson Ann Marie Mandl Kirsten Michel Megan Oppenheimer Jonas Ozdogan Kadir Toykan Stewardson Kristin Wen Shaoqing Yan Shi Zalzala Fatma Chuang Richard Huang Ching Jung Looh Hana Shiung Chung Ching Nikitin Yuri G Tabarev Andrei V Tishkin Alexey A Lin Song Sun Zhou Yong Wu Xiao Ming Yang Tie Lin Hu Xi Chen Liang Du Hua Bayarsaikhan Jamsranjav Mijiddorj Enkhbayar Erdenebaatar Diimaajav Iderkhangai Tumur Ochir Myagmar Erdene Kanzawa Kiriyama Hideaki Nishino Masato Shinoda Ken ichi Shubina Olga A Guo Jianxin Cai Wangwei Deng Qiongying Kang Longli Li Dawei Li Dongna Lin Rong Shrestha Rukesh Wang Ling Xiang Wei Lanhai Xie Guangmao Yao Hongbing Zhang Manfei He Guanglin Yang Xiaomin Hu Rong Robbeets Martine Schiffels Stephan Kennett Douglas J Jin Li Li Hui Krause Johannes Pinhasi Ron Reich David March 2021 Genomic insights into the formation of human populations in East Asia Nature 591 7850 413 419 Bibcode 2021Natur 591 413W doi 10 1038 s41586 021 03336 2 ISSN 1476 4687 PMC 7993749 PMID 33618348 Mathieson I Lazaridis I Rohland N Mallick S Patterson N Roodenberg SA et al December 2015 Genome wide patterns of selection in 230 ancient Eurasians Nature 528 7583 499 503 Bibcode 2015Natur 528 499M doi 10 1038 nature16152 PMC 4918750 PMID 26595274 Posth C Nakatsuka N Lazaridis I Skoglund P Mallick S Lamnidis TC et al November 2018 Reconstructing the Deep Population History of Central and South America Cell Elsevier BV 175 5 1185 1197 e22 doi 10 1016 j cell 2018 10 027 hdl 10550 67985 PMC 6327247 PMID 30415837 Further reading EditThesleff I Mikkola ML May 2002 Death receptor signaling giving life to ectodermal organs Science s STKE 2002 131 pe22 doi 10 1126 stke 2002 131 pe22 PMID 11997580 S2CID 36068881 Ho L Williams MS Spritz RA May 1998 A gene for autosomal dominant hypohidrotic ectodermal dysplasia EDA3 maps to chromosome 2q11 q13 American Journal of Human Genetics 62 5 1102 6 doi 10 1086 301839 PMC 1377096 PMID 9545409 Kumar A Eby MT Sinha S Jasmin A Chaudhary PM January 2001 The ectodermal dysplasia receptor activates the nuclear factor kappaB JNK and cell death pathways and binds to ectodysplasin A The Journal of Biological Chemistry 276 4 2668 77 doi 10 1074 jbc M008356200 PMID 11035039 Yan M Wang LC Hymowitz SG Schilbach S Lee J Goddard A et al October 2000 Two amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors Science 290 5491 523 7 Bibcode 2000Sci 290 523Y doi 10 1126 science 290 5491 523 PMID 11039935 Elomaa O Pulkkinen K Hannelius U Mikkola M Saarialho Kere U Kere J April 2001 Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein Human Molecular Genetics 10 9 953 62 doi 10 1093 hmg 10 9 953 PMID 11309369 Koppinen P Pispa J Laurikkala J Thesleff I Mikkola ML October 2001 Signaling and subcellular localization of the TNF receptor Edar Experimental Cell Research 269 2 180 92 doi 10 1006 excr 2001 5331 PMID 11570810 Headon DJ Emmal SA Ferguson BM Tucker AS Justice MJ Sharpe PT et al 2002 Gene defect in ectodermal dysplasia implicates a death domain adapter in development Nature 414 6866 913 6 doi 10 1038 414913a PMID 11780064 S2CID 4380080 Yan M Zhang Z Brady JR Schilbach S Fairbrother WJ Dixit VM March 2002 Identification of a novel death domain containing adaptor molecule for ectodysplasin A receptor that is mutated in crinkled mice Current Biology 12 5 409 13 doi 10 1016 S0960 9822 02 00687 5 PMID 11882293 S2CID 9911697 Sinha SK Zachariah S Quinones HI Shindo M Chaudhary PM November 2002 Role of TRAF3 and 6 in the activation of the NF kappa B and JNK pathways by X linked ectodermal dysplasia receptor The Journal of Biological Chemistry 277 47 44953 61 doi 10 1074 jbc M207923200 PMID 12270937 Shu H Chen S Bi Q Mumby M Brekken DL March 2004 Identification of phosphoproteins and their phosphorylation sites in the WEHI 231 B lymphoma cell line Molecular amp Cellular Proteomics 3 3 279 86 doi 10 1074 mcp D300003 MCP200 PMID 14729942 Zhang Z Henzel WJ October 2004 Signal peptide prediction based on analysis of experimentally verified cleavage sites Protein Science 13 10 2819 24 doi 10 1110 ps 04682504 PMC 2286551 PMID 15340161 Hashimoto T Cui CY Schlessinger D April 2006 Repertoire of mouse ectodysplasin A EDA A isoforms Gene 371 1 42 51 doi 10 1016 j gene 2005 11 003 PMID 16423472 Chassaing N Bourthoumieu S Cossee M Calvas P Vincent MC March 2006 Mutations in EDAR account for one quarter of non ED1 related hypohidrotic ectodermal dysplasia Human Mutation 27 3 255 9 doi 10 1002 humu 20295 PMID 16435307 S2CID 32110651 Tariq M Wasif N Ahmad W July 2007 A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia The British Journal of Dermatology 157 1 207 9 doi 10 1111 j 1365 2133 2007 07949 x PMID 17501952 S2CID 310090 External links EditGeneReview NIH UW entry on Hypohidrotic Ectodermal Dysplasia This article needs additional or more specific categories Please help out by adding categories to it so that it can be listed with similar articles June 2022 Retrieved from https en wikipedia org w index php title Ectodysplasin A receptor amp oldid 1139410189, wikipedia, wiki, book, books, library,

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