اچ‌آر (ژن)

HR
معین‌کننده‌ها
نام‌های دیگر	HR, ALUNC, AU, HSA277165, HYPT4, MUHH, MUHH1, hair growth associated, lysine demethylase and nuclear receptor corepressor, HR lysine demethylase and nuclear receptor corepressor
شناسه‌های بیرونی	OMIM: 602302 MGI: 96223 HomoloGene: 3774 GeneCards: HR
موقعیت ژن (موش)
کروموزوم	کروموزوم ۱۴ (موش)
پایان	70,810,988 bp
الگوی گسترش RNA
	; ;
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• GO:0001131، GO:0001151، GO:0001130، GO:0001204 DNA-binding transcription factor activity; • DNA binding; • oxidoreductase activity; • GO:0001106 transcription corepressor activity; • metal ion binding; • GO:0000975 transcription cis-regulatory region binding; • chromatin DNA binding; • histone H3-methyl-lysine-9 demethylase activity;
ترکیبات سلولی	• nuclear body; • نوکلئوپلاسم; • کروماتین; • هسته یاخته;
فرایند زیستی	• GO:0045996 negative regulation of transcription, DNA-templated; • transcription, DNA-templated; • GO:0009373 regulation of transcription, DNA-templated; • histone H3-K9 demethylation;
	منابع: آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	55806
	15460
	ENSG00000168453
	ENSMUSG00000022096
	O43593
	Q61645
	NM_018411 NM_005144، NM_018411
	NM_001379479، XM_036158471، XM_036158472، XM_036158473 NM_021877، NM_001379479، XM_036158471، XM_036158472، XM_036158473
	NP_060881، XP_005273626، XP_006716430 NP_005135، NP_060881، XP_005273626، XP_006716430
	NP_001366408، XP_036014364، XP_036014365، XP_036014366 NP_068677، NP_001366408، XP_036014364، XP_036014365، XP_036014366
	ویکی‌داده
مشاهده/ویرایش انسان	مشاهده/ویرایش موش

اچ‌آر (انگلیسی: HR) نام ژنی است که در انسان پروتین hairless را کدگذاری می‌کند.^[۴]^[۵]^[۶]

در واقع ژن اچ‌آر، پروتئینی را رمزگذاری می‌کند که با رشد مو مرتبط است. یک پروتئین مشابه در موش صحرایی به عنوان یک مهارکننده رونویسی برای هورمون تیروئید عمل می‌کند و با هیستون داستیلاز تعامل دارد.^[۶]

تغییرات این ژن در کم‌مویی (طاسی / آلوپسی / ریزش مو) دخیل است.^[۷] جهش در این ژن در انسان در موارد آلوپسی مادرزادی اتوزومال مغلوب^[۸] و بی‌مویی با ضایعات پاپولار ثابت شده است.^[۹]^[۱۰] ^[۱۱] ^[۱۲] ^[۱۳]

پروتئین حاصل از این ژن یک دومِـین انگشت روی است.^[۱۱]^[۹]

منابع

1 2 3 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.
1 2 "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.
1 2 Ahmad W; Irvine AD; Lam H; Buckley, Colin; Bingham, E. Ann; Panteleyev, Andrei A.; Ahmad, Mahmud; McGrath, John A.; Christiano, Angela M. (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, Rachel; Cohen, Nadine (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.
1 2 Ahmad W; Nomura K; McGrath JA; Hashimoto, Isao; 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, Johannes; Heyn, Uwe; Propping, Peter; Nöthen, Markus M.; Cichon, Sven (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.

برای مطالعهٔ بیشتر

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.C.; Ruzicka, T.; Propping, P.; Nothen, M.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, Amalia; Zaun, Hansotto; Christiano, Angela M. (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, Tetsuji; Sugiyama, Tomoyasu; Irie, Ryotaro; Wakamatsu, Ai; Hayashi, Koji; Sato, Hiroyuki (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, Felix; Bauer, Ralf; Bergman, Reuven; Lentze, Michael J.; Nöthen, Markus M.; Cichon, Sven (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.

پیوند به بیرون

HR protein, human در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا

[refGRCm38Ensembl-1] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000022096 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10051399-4] 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.

[pmid9463324-5] 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-6] 1 2 "Entrez Gene: HR hairless homolog (mouse)".

[pmid26269244-7] 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.

[8] 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.

[hr1-9] 1 2 Ahmad W; Irvine AD; Lam H; Buckley, Colin; Bingham, E. Ann; Panteleyev, Andrei A.; Ahmad, Mahmud; McGrath, John A.; Christiano, Angela M. (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.

[10] Sprecher E; Bergman R; Szargel R; Friedman-Birnbaum, Rachel; Cohen, Nadine (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.

[hr2-11] 1 2 Ahmad W; Nomura K; McGrath JA; Hashimoto, Isao; 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.

[12] Hillmer AM; Kruse R; Betz RC; Schumacher, Johannes; Heyn, Uwe; Propping, Peter; Nöthen, Markus M.; Cichon, Sven (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.

[13] 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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