Biology:HR (gene)
From HandWiki
Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
HR is a gene encoding Protein hairless.[1][2][3]
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.[3]
Human Genetics
Variations in this gene are involved in low levels of hair (baldness / alopecia / hypotrichosis)[4] Mutations in this gene in humans have been documented in cases of autosomal recessive congenital alopecia[5] and atrichia with papular lesions.[6][7] [8] [9] [10]
The protein contains a Zinc finger domain.[8][6]
See also
- Corepressor
References
- ↑ "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. Apr 1999. doi:10.1006/geno.1998.5699. PMID 10051399.
- ↑ "A gene for universal congenital alopecia maps to chromosome 8p21-22". Am J Hum Genet 62 (2): 386–90. Apr 1998. doi:10.1086/301717. PMID 9463324.
- ↑ 3.0 3.1 "Entrez Gene: HR hairless homolog (mouse)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55806.
- ↑ "Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis". Clinical and Experimental Dermatology 41 (2): 175–8. March 2016. doi:10.1111/ced.12711. PMID 26269244.
- ↑ Ahmad W; Faiyaz ul Haque M; Brancolini V; Tsou, HC; Ul Haque, S; Lam, H; Aita, VM; Owen, J et al. (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.
- ↑ 6.0 6.1 Ahmad W; Irvine AD; Lam H; Buckley, Colin; Bingham, E. Ann; Panteleyev, Andrei A.; Ahmad, Mahmud; McGrath, John A. et al. (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. PMID 9758627.
- ↑ Sprecher E; Bergman R; Szargel R; Friedman-Birnbaum, Rachel; Cohen, Nadine (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. PMID 10205263.
- ↑ 8.0 8.1 Ahmad W; Nomura K; McGrath JA; Hashimoto, Isao; 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, Johannes; Heyn, Uwe; Propping, Peter; Nöthen, Markus M.; Cichon, Sven (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. 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. PMID 11641275.
Further reading
- "Alopecia universalis as a single abnormality in an inbred Pakistani kindred". Am. J. Med. Genet. 46 (4): 369–71. 1993. doi:10.1002/ajmg.1320460405. PMID 8357006.
- Cichon S; Anker M; Vogt IR; Rohleder, H; Pützstück, M; Hillmer, A; Farooq, SA; Al-Dhafri, KS et al. (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.
- "HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences". J. Biol. Chem. 277 (9): 7021–8. 2002. doi:10.1074/jbc.M108417200. PMID 11748221.
- Hillmer AM; Kruse R; Macciardi F; Heyn, U.; Betz, R.C.; Ruzicka, T.; Propping, P.; Nothen, M.M. et al. (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.
- Henn W; Zlotogorski A; Lam H; Martinez-Mir, Amalia; Zaun, Hansotto; Christiano, Angela M. (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.
- "A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia". J. Invest. Dermatol. 119 (4): 920–2. 2002. 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 et al. (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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- 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, Tetsuji; Sugiyama, Tomoyasu; Irie, Ryotaro; Wakamatsu, Ai; Hayashi, Koji et al. (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 et al. (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. PMID 15489334.
- "Hairless suppresses vitamin D receptor transactivation in human keratinocytes". Endocrinology 147 (1): 314–23. 2006. doi:10.1210/en.2005-1111. PMID 16269453.
- Betz RC; Indelman M; Pforr J; Schreiner, Felix; Bauer, Ralf; Bergman, Reuven; Lentze, Michael J.; Nöthen, Markus M. et al. (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.
External links
- HR+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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