| HR | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | HR, ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1, hair growth associated, lysine demethylase and nuclear receptor corepressor, HR lysine demethylase and nuclear receptor corepressor | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602302; MGI: 96223; HomoloGene: 3774; GeneCards: HR; OMA: HR - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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HR is a gene encoding Protein hairless. [5] [6] [7]
This gene encodes a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor for thyroid hormone and interacts with histone deacetylases. [7]
Human Genetics
Variations in this gene are involved in low levels of hair (baldness / alopecia / hypotrichosis) [8] Mutations in this gene in humans have been documented in cases of autosomal recessive congenital alopecia [9] and atrichia with papular lesions. [10] [11] [12] [13] [14]
The protein contains a Zinc finger domain. [12] [10]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000168453 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022096 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Ahmad W, Zlotogorski A, Panteleyev AA, Lam H, Ahmad M, ul Haque MF, Abdallah HM, Dragan L, Christiano AM (Apr 1999). "Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family". Genomics. 56 (2): 141–8. doi: 10.1006/geno.1998.5699. PMID 10051399.
- ^ Nothen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Holler T, Faiyaz ul Haque M, Haque S, Propping P, Ahmad M, Rietschel M (Apr 1998). "A gene for universal congenital alopecia maps to chromosome 8p21-22". Am J Hum Genet. 62 (2): 386–90. doi: 10.1086/301717. PMC 1376893. PMID 9463324.
- ^ a b "Entrez Gene: HR hairless homolog (mouse)".
- ^ Zhong Z, Zhong M, Lu Y, Lu L, Wang J, Xu D, Wang F, Xu G, Chen J (March 2016). "Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis". Clinical and Experimental Dermatology. 41 (2): 175–8. doi: 10.1111/ced.12711. PMID 26269244. S2CID 5581940.
- ^ Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, Ul Haque S, Lam H, Aita VM, Owen J, Deblaquiere M (1998). "Alopecia universalis associated with a mutation in the human hairless gene". Science. 279 (5351): 720–4. doi: 10.1126/science.279.5351.720. PMID 9445480.
- ^ a b Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM (1998). "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers". Am. J. Hum. Genet. 63 (4): 984–91. doi: 10.1086/302069. PMC 1377501. PMID 9758627.
- ^ Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N (1999). "Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias". Am. J. Hum. Genet. 64 (5): 1323–9. doi: 10.1086/302368. PMC 1377868. PMID 10205263.
- ^ a b Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano s (1999). "A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia". J. Invest. Dermatol. 113 (2): 281–3. doi: 10.1046/j.1523-1747.1999.00686.x. PMID 10469319.
- ^ Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nöthen MM, Cichon S (2001). "Variant 1859G→A (Arg620Gln) of the "Hairless" Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia". Am. J. Hum. Genet. 69 (1): 235–7. doi: 10.1086/321273. PMC 1226040. PMID 11410842.
- ^ Potter GB, Beaudoin GM, DeRenzo CL, Zarach JM, Chen SH, Thompson CC (2001). "The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor". Genes Dev. 15 (20): 2687–701. doi: 10.1101/gad.916701. PMC 312820. PMID 11641275.
Further reading
- Ahmad M, Abbas H, Haque S (1993). "Alopecia universalis as a single abnormality in an inbred Pakistani kindred". Am. J. Med. Genet. 46 (4): 369–71. doi: 10.1002/ajmg.1320460405. PMID 8357006.
- Cichon S, Anker M, Vogt IR, Rohleder H, Pützstück M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M (1998). "Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia". Hum. Mol. Genet. 7 (11): 1671–9. doi: 10.1093/hmg/7.11.1671. PMID 9736769.
- Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi: 10.1074/jbc.M108417200. hdl: 10261/112516. PMID 11748221.
- Hillmer AM, Kruse R, Macciardi F, Heyn U, Betz R, Ruzicka T, Propping P, Nothen M, Cichon S (2002). "The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach". Br. J. Dermatol. 146 (4): 601–8. doi: 10.1046/j.1365-2133.2002.04766.x. PMID 11966690. S2CID 8340914.
- Henn W, Zlotogorski A, Lam H, Martinez-Mir A, Zaun H, Christiano AM (2002). "Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis". J. Am. Acad. Dermatol. 47 (4): 519–23. doi: 10.1067/mjd.2002.124609. PMID 12271294.
- Klein I, Bergman R, Indelman M, Sprecher E (2002). "A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia". J. Invest. Dermatol. 119 (4): 920–2. doi: 10.1046/j.1523-1747.2002.00268.x. PMID 12406339.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode: 2002PNAS...9916899M. doi: 10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Fernández A, Silió L, Noguera JL, Sanchez A, Ovilo C (2004). "Linkage mapping of the porcine hairless gene (HR ) to chromosome 14". Anim. Genet. 34 (4): 317–8. doi: 10.1046/j.1365-2052.2003.01032.x. PMID 12873232.
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi: 10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Xie Z, Chang S, Oda Y, Bikle DD (2006). "Hairless suppresses vitamin D receptor transactivation in human keratinocytes". Endocrinology. 147 (1): 314–23. doi: 10.1210/en.2005-1111. PMID 16269453. S2CID 46590367.
- Betz RC, Indelman M, Pforr J, Schreiner F, Bauer R, Bergman R, Lentze MJ, Nöthen MM, Cichon S (2007). "Identification of mutations in the human hairless gene in two new families with congenital atrichia". Arch. Dermatol. Res. 299 (3): 157–61. doi: 10.1007/s00403-007-0747-8. PMID 17372750. S2CID 13529447.
External links
- HR+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
| HR | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | HR, ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1, hair growth associated, lysine demethylase and nuclear receptor corepressor, HR lysine demethylase and nuclear receptor corepressor | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602302; MGI: 96223; HomoloGene: 3774; GeneCards: HR; OMA: HR - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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HR is a gene encoding Protein hairless. [5] [6] [7]
This gene encodes a protein whose function has been linked to hair growth. A similar protein in rat functions as a transcriptional corepressor for thyroid hormone and interacts with histone deacetylases. [7]
Human Genetics
Variations in this gene are involved in low levels of hair (baldness / alopecia / hypotrichosis) [8] Mutations in this gene in humans have been documented in cases of autosomal recessive congenital alopecia [9] and atrichia with papular lesions. [10] [11] [12] [13] [14]
The protein contains a Zinc finger domain. [12] [10]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000168453 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022096 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Ahmad W, Zlotogorski A, Panteleyev AA, Lam H, Ahmad M, ul Haque MF, Abdallah HM, Dragan L, Christiano AM (Apr 1999). "Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family". Genomics. 56 (2): 141–8. doi: 10.1006/geno.1998.5699. PMID 10051399.
- ^ Nothen MM, Cichon S, Vogt IR, Hemmer S, Kruse R, Knapp M, Holler T, Faiyaz ul Haque M, Haque S, Propping P, Ahmad M, Rietschel M (Apr 1998). "A gene for universal congenital alopecia maps to chromosome 8p21-22". Am J Hum Genet. 62 (2): 386–90. doi: 10.1086/301717. PMC 1376893. PMID 9463324.
- ^ a b "Entrez Gene: HR hairless homolog (mouse)".
- ^ Zhong Z, Zhong M, Lu Y, Lu L, Wang J, Xu D, Wang F, Xu G, Chen J (March 2016). "Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis". Clinical and Experimental Dermatology. 41 (2): 175–8. doi: 10.1111/ced.12711. PMID 26269244. S2CID 5581940.
- ^ Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, Ul Haque S, Lam H, Aita VM, Owen J, Deblaquiere M (1998). "Alopecia universalis associated with a mutation in the human hairless gene". Science. 279 (5351): 720–4. doi: 10.1126/science.279.5351.720. PMID 9445480.
- ^ a b Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM (1998). "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers". Am. J. Hum. Genet. 63 (4): 984–91. doi: 10.1086/302069. PMC 1377501. PMID 9758627.
- ^ Sprecher E, Bergman R, Szargel R, Friedman-Birnbaum R, Cohen N (1999). "Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias". Am. J. Hum. Genet. 64 (5): 1323–9. doi: 10.1086/302368. PMC 1377868. PMID 10205263.
- ^ a b Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano s (1999). "A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia". J. Invest. Dermatol. 113 (2): 281–3. doi: 10.1046/j.1523-1747.1999.00686.x. PMID 10469319.
- ^ Hillmer AM, Kruse R, Betz RC, Schumacher J, Heyn U, Propping P, Nöthen MM, Cichon S (2001). "Variant 1859G→A (Arg620Gln) of the "Hairless" Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia". Am. J. Hum. Genet. 69 (1): 235–7. doi: 10.1086/321273. PMC 1226040. PMID 11410842.
- ^ Potter GB, Beaudoin GM, DeRenzo CL, Zarach JM, Chen SH, Thompson CC (2001). "The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor". Genes Dev. 15 (20): 2687–701. doi: 10.1101/gad.916701. PMC 312820. PMID 11641275.
Further reading
- Ahmad M, Abbas H, Haque S (1993). "Alopecia universalis as a single abnormality in an inbred Pakistani kindred". Am. J. Med. Genet. 46 (4): 369–71. doi: 10.1002/ajmg.1320460405. PMID 8357006.
- Cichon S, Anker M, Vogt IR, Rohleder H, Pützstück M, Hillmer A, Farooq SA, Al-Dhafri KS, Ahmad M (1998). "Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia". Hum. Mol. Genet. 7 (11): 1671–9. doi: 10.1093/hmg/7.11.1671. PMID 9736769.
- Dintilhac A, Bernués J (2002). "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. doi: 10.1074/jbc.M108417200. hdl: 10261/112516. PMID 11748221.
- Hillmer AM, Kruse R, Macciardi F, Heyn U, Betz R, Ruzicka T, Propping P, Nothen M, Cichon S (2002). "The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach". Br. J. Dermatol. 146 (4): 601–8. doi: 10.1046/j.1365-2133.2002.04766.x. PMID 11966690. S2CID 8340914.
- Henn W, Zlotogorski A, Lam H, Martinez-Mir A, Zaun H, Christiano AM (2002). "Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis". J. Am. Acad. Dermatol. 47 (4): 519–23. doi: 10.1067/mjd.2002.124609. PMID 12271294.
- Klein I, Bergman R, Indelman M, Sprecher E (2002). "A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia". J. Invest. Dermatol. 119 (4): 920–2. doi: 10.1046/j.1523-1747.2002.00268.x. PMID 12406339.
- Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode: 2002PNAS...9916899M. doi: 10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Fernández A, Silió L, Noguera JL, Sanchez A, Ovilo C (2004). "Linkage mapping of the porcine hairless gene (HR ) to chromosome 14". Anim. Genet. 34 (4): 317–8. doi: 10.1046/j.1365-2052.2003.01032.x. PMID 12873232.
- Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi: 10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Xie Z, Chang S, Oda Y, Bikle DD (2006). "Hairless suppresses vitamin D receptor transactivation in human keratinocytes". Endocrinology. 147 (1): 314–23. doi: 10.1210/en.2005-1111. PMID 16269453. S2CID 46590367.
- Betz RC, Indelman M, Pforr J, Schreiner F, Bauer R, Bergman R, Lentze MJ, Nöthen MM, Cichon S (2007). "Identification of mutations in the human hairless gene in two new families with congenital atrichia". Arch. Dermatol. Res. 299 (3): 157–61. doi: 10.1007/s00403-007-0747-8. PMID 17372750. S2CID 13529447.
External links
- HR+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)