جين الصلع البشري
| عدِّل |
پروتين الصلع هو الپروتين بشري رمزه جين HR.[1][2][3]
| المرتبط بنمو الشعر | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| المحددات | |||||||||||
| الرمزs | HR; ALUNC; AU; HSA277165; MUHH; MUHH1 | ||||||||||
| المحددات الخارجية | OMIM: 602302 MGI: 96223 هومولوجين: 3774 GeneCards: HR Gene | ||||||||||
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| نمط تعبير الرنا | |||||||||||
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| المزيد من التعبيرات المرجعية | |||||||||||
| الكروموسومات المتناددة Orthologs | |||||||||||
| النوع | بشري | فأري | |||||||||
| Entrez | 55806 | 15460 | |||||||||
| Ensembl | ENSG00000168453 | ENSMUSG00000022096 | |||||||||
| UniProt | O43593 | Q61645 | |||||||||
| RefSeq (mRNA) | NM_005144 | NM_021877 | |||||||||
| RefSeq (protein) | NP_005135 | NP_068677 | |||||||||
| الموقع (UCSC) |
Chr 8: 21.97 - 21.99 Mb |
Chr 14: 70.55 - 70.57 Mb | |||||||||
| بحث PubMed | [1] | [2] | |||||||||
هذا الجين يشفر الپروتين المرتبط بنمو الشعر. 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.[3]
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انظر أيضاً
المصادر
- ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ أ ب "Entrez Gene: HR hairless homolog (mouse)".
قراءات إضافية
- 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help) - 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - 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.
{{cite journal}}: Unknown parameter|author-separator=ignored (help)
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