HR (gene)
From Wikipedia, the free encyclopedia
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Hairless homolog (mouse)
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| Identifiers | ||||||||||||||
| Symbol(s) | HR; AU; ALUNC; HSA277165 | |||||||||||||
| External IDs | OMIM: 602302 MGI: 96223 HomoloGene: 3774 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 55806 | 15460 | ||||||||||||
| Ensembl | ENSG00000168453 | ENSMUSG00000022096 | ||||||||||||
| Uniprot | O43593 | Q4QY90 | ||||||||||||
| Refseq | NM_005144 (mRNA) NP_005135 (protein) |
NM_021877 (mRNA) NP_068677 (protein) |
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| Location | Chr 8: 22.03 - 22.05 Mb | Chr 14: 69.29 - 69.31 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Hairless homolog (mouse), also known as HR, is a human gene.[1]
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. Mutations in this gene have been documented in cases of autosomal recessive congenital alopecia and atrichia with papular lesions.[1]
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[edit] See also
[edit] References
[edit] 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:. PMID 8357006.
- 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. PMID 9445480.
- Nöthen MM, Cichon S, Vogt IR, et al. (1998). "A gene for universal congenital alopecia maps to chromosome 8p21-22.". Am. J. Hum. Genet. 62 (2): 386–90. PMID 9463324.
- 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. PMID 9736769.
- 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. PMID 9758627.
- Ahmad W, Zlotogorski A, Panteleyev AA, et al. (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:. PMID 10051399.
- 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. PMID 10205263.
- 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:. PMID 10469319.
- Hillmer AM, Kruse R, Betz RC, et al. (2001). "Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia.". Am. J. Hum. Genet. 69 (1): 235–7. PMID 11410842.
- 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:. PMID 11641275.
- 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:. 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. 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. 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:. 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:. 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. 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:. 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:. 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:. 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:. PMID 17372750.
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