HR (gene)

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; OMA:HR - orthologs
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 70,789,652 bp [2] End 70,810,988 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of abdomen skin of leg right hemisphere of cerebellum mucosa of transverse colon vulva right frontal lobe nipple sural nerve prefrontal cortex parotid gland Top expressed in lip hair bulb muscle of thigh Epithelium of large intestine inner root sheath esophagus triceps brachii muscle epithelium of rectum skin of back inner enamel epithelium More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding oxidoreductase activity transcription corepressor activity metal ion binding transcription cis-regulatory region binding chromatin DNA binding histone H3-methyl-lysine-9 demethylase activity Cellular component nuclear body nucleoplasm chromatin nucleus Biological process negative regulation of transcription, DNA-templated 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: 70.79 – 70.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

• 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. S2CID   5581940.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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)