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)
End	22,133,384 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	70,810,988 bp
RNA expression pattern
	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
	; ;
	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
	55806
	15460
	ENSG00000168453
	ENSMUSG00000022096
	O43593
	Q61645
	NM_005144; NM_018411
	NM_021877; NM_001379479
	NP_005135; NP_060881
	NP_068677; NP_001366408
	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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000168453 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022096 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: HR hairless homolog (mouse)".
^ 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.
^ 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.
^ ^a ^b 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.
^ 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.
^ ^a ^b 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.
^ 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.
^ 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.

External links

HR protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000168453 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10051399-5] 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.

[pmid9463324-6] 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.

[entrez-7] "Entrez Gene: HR hairless homolog (mouse)".

[pmid26269244-8] 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.

[hr1-10] 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.

[hr2-12] 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.

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[6]

[7]

[1]

[2]

[3]

[4]

[8]

[9]

[10]

[11]

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[14]

HR (gene)

Contents

Human Genetics

See also

References

Further reading

External links