HR (gene) explained

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.

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

Further reading

• Ahmad M, Abbas H, Haque S . Alopecia universalis as a single abnormality in an inbred Pakistani kindred . Am. J. Med. Genet. . 46 . 4 . 369–71 . 1993 . 8357006 . 10.1002/ajmg.1320460405 .
• Cichon S . 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 . 1998 . 9736769 . 10.1093/hmg/7.11.1671 . Anker M . Vogt IR . Rohleder . H . Pützstück . M . Hillmer . A . Farooq . SA . Al-Dhafri . KS . Ahmad . M .
• Dintilhac A, Bernués J . HMGB1 interacts with many apparently unrelated proteins by recognizing short amino acid sequences . J. Biol. Chem. . 277 . 9 . 7021–8 . 2002 . 11748221 . 10.1074/jbc.M108417200 . free . 10261/112516 . free .
• Hillmer AM . 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 . 2002 . 11966690 . 10.1046/j.1365-2133.2002.04766.x . Kruse R . Macciardi F . Heyn . U. . Betz . R.C. . Ruzicka . T. . Propping . P. . Nothen . M.M. . Cichon . S. . 8340914 .
• Henn W . 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 . 2002 . 12271294 . 10.1067/mjd.2002.124609 . Zlotogorski A . Lam H . Martinez-Mir . Amalia . Zaun . Hansotto . Christiano . Angela M. .
• Klein I, Bergman R, Indelman M, Sprecher E . A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia . J. Invest. Dermatol. . 119 . 4 . 920–2 . 2002 . 12406339 . 10.1046/j.1523-1747.2002.00268.x . free .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Fernández A . Linkage mapping of the porcine hairless gene (HR) to chromosome 14 . Anim. Genet. . 34 . 4 . 317–8 . 2004 . 12873232 . 10.1046/j.1365-2052.2003.01032.x . Silió L . Noguera JL . Sanchez . A. . Ovilo . C. .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . Suzuki Y . Nishikawa T . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . Wagner L . Feingold EA . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Xie Z, Chang S, Oda Y, Bikle DD . Hairless suppresses vitamin D receptor transactivation in human keratinocytes . Endocrinology . 147 . 1 . 314–23 . 2006 . 16269453 . 10.1210/en.2005-1111 . 46590367 .
• Betz RC . Identification of mutations in the human hairless gene in two new families with congenital atrichia . Arch. Dermatol. Res. . 299 . 3 . 157–61 . 2007 . 17372750 . 10.1007/s00403-007-0747-8 . Indelman M . Pforr J . Schreiner . Felix . Bauer . Ralf . Bergman . Reuven . Lentze . Michael J. . Nöthen . Markus M. . Cichon . Sven . 13529447 .

Notes and References

1. Ahmad W, Zlotogorski A, Panteleyev AA, Lam H, Ahmad M, ul Haque MF, Abdallah HM, Dragan L, Christiano AM . 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 . 10051399 . 10.1006/geno.1998.5699 . free .
2. 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 . A gene for universal congenital alopecia maps to chromosome 8p21-22 . Am J Hum Genet . 62 . 2 . 386–90 . Apr 1998 . 9463324 . 1376893 . 10.1086/301717 .
3. Web site: Entrez Gene: HR hairless homolog (mouse).
4. Zhong Z, Zhong M, Lu Y, Lu L, Wang J, Xu D, Wang F, Xu G, Chen J . Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis . Clinical and Experimental Dermatology . 41 . 2 . 175–8 . March 2016 . 26269244 . 10.1111/ced.12711 . 5581940 .
5. Ahmad W . Alopecia universalis associated with a mutation in the human hairless gene . Science . 279 . 5351 . 720–4 . 1998 . 9445480 . 10.1126/science.279.5351.720 . Faiyaz ul Haque M . Brancolini V . Tsou . HC . Ul Haque . S . Lam . H . Aita . VM . Owen . J . Deblaquiere . M .
6. Ahmad W . 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 . 1998 . 9758627 . 10.1086/302069 . 1377501 . Irvine AD . Lam H . Buckley . Colin . Bingham . E. Ann . Panteleyev . Andrei A. . Ahmad . Mahmud . McGrath . John A. . Christiano . Angela M..
7. Sprecher E . 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 . 1999 . 10205263 . 10.1086/302368 . 1377868 . Bergman R . Szargel R . Friedman-Birnbaum . Rachel . Cohen . Nadine.
8. Ahmad W . A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia . J. Invest. Dermatol. . 113 . 2 . 281–3 . 1999 . 10469319 . 10.1046/j.1523-1747.1999.00686.x . Nomura K . McGrath JA . Hashimoto . Isao . Christiano . s. free .
9. Hillmer AM . 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 . 2001 . 11410842 . 10.1086/321273 . 1226040 . Kruse R . Betz RC . Schumacher . Johannes . Heyn . Uwe . Propping . Peter . Nöthen . Markus M. . Cichon . Sven .
10. Potter GB . The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor . Genes Dev. . 15 . 20 . 2687–701 . 2001 . 11641275 . 10.1101/gad.916701 . 312820 . Beaudoin GM . DeRenzo CL . Zarach . JM . Chen . SH . Thompson . CC .