HR (gene)

Protein hairless is a protein that in humans is encoded by the HR gene.[5][6][7]

HR
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
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p21.3 Start 22,114,419 bp[1] End 22,133,384 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 D2 Start 70,552,212 bp[2] End 70,573,548 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • oxidoreductase activity • GO:0001106 transcription corepressor activity • metal ion binding • transcription regulatory region sequence-specific DNA binding • chromatin DNA binding • histone demethylase activity (H3-K9 specific) Cellular component • nuclear body • nucleoplasm • chromatin • cell nucleus Biological process • negative regulation of transcription, DNA-templated • oxidation-reduction process • transcription, DNA-templated • regulation of transcription, DNA-templated • histone H3-K9 demethylation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55806	15460
Ensembl	ENSG00000168453	ENSMUSG00000022096
UniProt	O43593	Q61645
RefSeq (mRNA)	NM_005144 NM_018411	NM_021877 NM_001379479
RefSeq (protein)	NP_005135 NP_060881	NP_068677 NP_001366408
Location (UCSC)	Chr 8: 22.11 – 22.13 Mb	Chr 14: 70.55 – 70.57 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

• Corepressor

References

1. GRCh38: Ensembl release 89: ENSG00000168453 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022096 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: HR hairless homolog (mouse)".
8. 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.
9. Ahmad W, Faiyaz ul Haque M, Brancolini V, 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.
10. Ahmad W, Irvine AD, Lam H, 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. PMC 1377501. PMID 9758627.
11. Sprecher E, Bergman R, Szargel R, et al. (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.
12. Ahmad W, Nomura K, McGrath JA, et al. (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.
13. Hillmer AM, Kruse R, Betz RC, et al. (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.
14. Potter GB, Beaudoin GM, DeRenzo CL, et al. (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, 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.
• 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. PMID 11748221.
• Hillmer AM, Kruse R, Macciardi F, 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, et al. (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, 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. PMC 139241. PMID 12477932.
• Fernández A, Silió L, Noguera JL, et al. (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, 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, 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. 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.
• Betz RC, Indelman M, Pforr J, 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)