HR (gene)

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HR
Identifiers
AliasesHR, ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1, hair growth associated, lysine demethylase and nuclear receptor corepressor, HR lysine demethylase and nuclear receptor corepressor
External IDsMGI: 96223 HomoloGene: 3774 GeneCards: HR
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for HR
Genomic location for HR
Band8p21.3Start22,114,419 bp[1]
End22,133,384 bp[1]
RNA expression pattern
PBB GE HR 220163 s at fs.png

PBB GE HR 210086 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005144
NM_018411

NM_021877

RefSeq (protein)

NP_005135
NP_060881

NP_068677

Location (UCSC)Chr 8: 22.11 – 22.13 MbChr 14: 70.55 – 70.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Variations in this gene is 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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000168453 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022096 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. ^ a b "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. ^ a b 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. ^ a b 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[edit]

External links[edit]