Diferenzas entre revisións de «Receptor da vitamina D»

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O '''receptor da vitamina D''' ('''VDR''') ou '''receptor do calcitriol''', tamén chamado '''NR1I1''' (receptor nuclear familia 1, grupo I, membro 1), é un membro da familia dos [[receptor nuclear|receptores nucleares]] de [[factor de transcrición|factores de transcrición]].<ref name="pmid17132852">{{citeCita journalpublicación periódica | vauthors = Moore DD, Kato S, Xie W, Mangelsdorf DJ, Schmidt DR, Xiao R, Kliewer SA | title = International Union of Pharmacology. LXII. The NR1H and NR1I receptors: constitutive androstane receptor, pregnene X receptor, farnesoid X receptor alpha, farnesoid X receptor beta, liver X receptor alpha, liver X receptor beta, and vitamin D receptor | journal = Pharmacol. Rev. | volume = 58 | issue = 4 | pages = 742–59 | date = December 2006 | pmid = 17132852 | doi = 10.1124/pr.58.4.6 }}</ref> O [[calcitriol]], é a forma activa da [[vitamina D]], e únese ao VDR, que despois forma un [[heterodímero]] co [[receptor X retinoide]]. Este despois únese aos [[elemento de resposta a hormonas|elementos de resposta a hormonas]] do [[ADN]], o que resulta na [[expresión xénica|expresión]] ou [[transrepresión]] de produtos xénicos específicos. O VDR non só regula as respostas transcricionais senón que tamén implica mecanismos postranscricionais dirixidos por [[microARN]].<ref name="pmid23362149">{{citeCita journalpublicación periódica | vauthors = Lisse TS, Chun RF, Rieger S, Adams JS, Hewison M | title = Vitamin D activation of functionally distinct regulatory miRNAs in primary human osteoblasts | journal = J Bone Miner Res. | volume = 28 | issue = 6 | pages = 1478-14788 | date = June 2013 | pmid = 23362149 | doi = 10.1002/jbmr.1882 }}</ref> En humanos, o receptor da vitamina D está codificado polo xene ''VDR'' situado no [[cromosoma 12 humano]].<ref name="pmid1662663">{{citeCita journalpublicación periódica | vauthors = Szpirer J, Szpirer C, Riviere M, Levan G, Marynen P, Cassiman JJ, Wiese R, DeLuca HF | title = The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7 | journal = Genomics | volume = 11 | issue = 1 | pages = 168–73 | date = September 1991 | pmid = 1662663 | doi = 10.1016/0888-7543(91)90114-T | url = http://linkinghub.elsevier.com/retrieve/pii/0888-7543(91)90114-T }}</ref>
 
Os [[glicocorticoide]]s diminúen a expresión do VDR, que se expresa na maioría dos tecidos do corpo e regula o transporte [[intestinal]] de [[calcio]], [[ferro]] e outros minerais.<ref name="pmid21182397">{{citeCita journalpublicación periódica | vauthors = Fleet JC, Schoch RD | title = Molecular Mechanisms for Regulation of Intestinal Calcium Absorption by Vitamin D and Other Factors | journal = Crit Rev Clin Lab Sci | volume = 47 | issue = 4 | pages = 181–195 | date = August 2010 | pmid = 21182397 | doi = 10.3109/10408363.2010.536429 | url = http://informahealthcare.com/doi/abs/10.3109/10408363.2010.536429 | pmc=3235806}}</ref>
 
== Función ==
 
Este xene codifica o receptor nuclear de hormonas para a [[vitamina D3|vitamina D<sub>3</sub>]] (calcitriol). Este receptor tamén funciona como receptor para o [[ácido biliar]] secundario [[ácido litocólico]]. O receptor pertence á familia dos factores reguladores transcricionais que actúan en trans e mostran unha similitude de secuencia cos receptores de [[hormona tiroide|hormonas tiroides]] e [[hormona esteroide|esteroides]].<ref name="pmid17132848">{{citeCita journalpublicación periódica | vauthors = Germain P, Staels B, Dacquet C, Spedding M, Laudet V | title = Overview of nomenclature of nuclear receptors | journal = Pharmacol. Rev. | volume = 58 | issue = 4 | pages = 685–704 | date = December 2006 | pmid = 17132848 | doi = 10.1124/pr.58.4.2 }}</ref>
 
As dianas ''augas abaixo'' da ruta deste receptor nuclear de hormonas están implicadas principalmente no [[metabolismo]] mineral aínda que o receptor regula unha variedade doutras [[vía metabólica|vías metabólicas]], como as implicadas na [[resposta inmunitaria]] e o [[cancro]].<ref name="pmid16848743">{{citeCita journalpublicación periódica | vauthors = Adorini L, Daniel KC, Penna G | title = Vitamin D receptor agonists, cancer and the immune system: an intricate relationship | journal = Curr Top Med Chem | volume = 6 | issue = 12 | pages = 1297–301 | year = 2006 | pmid = 16848743 | doi = 10.2174/156802606777864890 }}</ref>
 
As [[mutación]]s neste xene están asociadas co [[raquitismo]] resistente a vitamina D tipo II. Un [[polimorfismo dun só nucleótido]] no [[codón]] de iniciación ten como resultado un sitio alternativo de inicio da [[tradución de proteínas|tradución]] situado tres codóns ''[[augas abaixo]]''. O [[empalme alternativo]] dá lugar a múltiples variantes de empalme ou splicing que codifican a mesma proteína.<ref name="entrez">{{citeCita web | title = Entrez Gene: VDR vitamin D (1,25- dihydroxyvitamin D3) receptor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7421| accessdate = }}</ref>
 
O receptor da vitamina D xoga un importante papel na regulación do ciclo do pelo. A perda do VDR está asociada coa perda de pelo en animais experimentais.<ref name="pmid20138991">{{citeCita journalpublicación periódica | vauthors = Luderer HF, Demay MB | title = The vitamin D receptor, the skin and stem cells | journal = J. Steroid Biochem. Mol. Biol. | volume = 121 | issue = 1–2 | pages = 314–6 | date = July 2010 | pmid = 20138991 | doi = 10.1016/j.jsbmb.2010.01.015 }}</ref> Os estudos experimentais mostraron que o VDR non unido a [[ligando]] interacciona con rexións reguladoras en cWnt ([[vía de sinalización wnt]]) e xenes diana da proteína [[sonic hedgehog]] (ourizo sónico) e é necesario para a indución destas vías durante o ciclo do pelo posnatal.<ref name="pmid25180455">{{citeCita journalpublicación periódica | vauthors = Lisse TS, Saini V, Zhao H, Luderer HF, Gori F, Demay MB | title = The Vitamin D Receptor Is Required for Activation of cWnt and Hedgehog Signaling in Keratinocytes | journal = Mol. Endocrinol. | volume = 28 | issue = 10 | pages = 1698–1706 | date = September 2014 | pmid = 25180455 | doi = 10.1210/me.2014-1043 | pmc=4179637}}</ref> Estes estudos revelaron novas accións do VDR non unido a ligando na regulación do ciclo do pelo posmorfoxénico.
 
== Interaccións ==
O receptor do calcitriol presenta [[interacción proteína-proteína|interaccións]] con:
 
* [[BAG1]],<ref name="pmid10967105">{{citeCita journalpublicación periódica | vauthors = Guzey M, Takayama S, Reed JC | title = BAG1L enhances trans-activation function of the vitamin D receptor | journal = J. Biol. Chem. | volume = 275 | issue = 52 | pages = 40749–56 | date = December 2000 | pmid = 10967105 | doi = 10.1074/jbc.M004977200 }}</ref>
* [[BAZ1B]],<ref name=pmid12837248/>
* [[Caveolin 3|CAV3]],<ref name="pmid20015453">{{citeCita journalpublicación periódica | vauthors = Zhao G, Simpson RU | title = Membrane Localization, Caveolin-3 Association and Rapid Actions of Vitamin D Receptor in Cardiac Myocytes | journal = Steroids | volume = 75 | issue = 8–9 | pages = 555–9 | year = 2010 | pmid = 20015453 | pmc = 2885558 | doi = 10.1016/j.steroids.2009.12.001 }}</ref>
* [[MED1]],<ref name=pmid12837248/><ref name="pmid10198638">{{citeCita journalpublicación periódica | vauthors = Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG | title = Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators | journal = Mol. Cell | volume = 3 | issue = 3 | pages = 361–70 | date = March 1999 | pmid = 10198638 | doi = 10.1016/S1097-2765(00)80463-3 }}</ref>
* [[MED12]],<ref name=pmid12837248/><ref name=pmid10198638/>
* [[MED24]],<ref name=pmid12837248/><ref name=pmid10198638/>
* [[Nuclear receptor co-repressor 1|NCOR1]],<ref name="pmid9878542">{{citeCita journalpublicación periódica | vauthors = Tagami T, Lutz WH, Kumar R, Jameson JL | title = The interaction of the vitamin D receptor with nuclear receptor corepressors and coactivators | journal = Biochem. Biophys. Res. Commun. | volume = 253 | issue = 2 | pages = 358–63 | date = December 1998 | pmid = 9878542 | doi = 10.1006/bbrc.1998.9799 }}</ref>
* [[Nuclear receptor co-repressor 2|NCOR2]],<ref name=pmid9878542/><ref name=pmid12460926/>
* [[Nuclear receptor coactivator 2|NCOA2]],<ref name="pmid12837248">{{citeCita journalpublicación periódica | vauthors = Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S | title = The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome | journal = Cell | volume = 113 | issue = 7 | pages = 905–17 | date = June 2003 | pmid = 12837248 | doi = 10.1016/S0092-8674(03)00436-7 }}</ref><ref name="pmid10748178">{{citeCita journalpublicación periódica | vauthors = Herdick M, Steinmeyer A, Carlberg C | title = Antagonistic action of a 25-carboxylic ester analogue of 1alpha, 25-dihydroxyvitamin D3 is mediated by a lack of ligand-induced vitamin D receptor interaction with coactivators | journal = J. Biol. Chem. | volume = 275 | issue = 22 | pages = 16506–12 | date = June 2000 | pmid = 10748178 | doi = 10.1074/jbc.M910000199 }}</ref><ref name=pmid11514567/><ref name="pmid12612084">{{citeCita journalpublicación periódica | vauthors = He B, Wilson EM | title = Electrostatic Modulation in Steroid Receptor Recruitment of LXXLL and FXXLF Motifs | journal = Mol. Cell. Biol. | volume = 23 | issue = 6 | pages = 2135–50 | date = March 2003 | pmid = 12612084 | pmc = 149467 | doi = 10.1128/MCB.23.6.2135-2150.2003 }}</ref>
* [[Retinoid X receptor alpha|RXRA]],<ref name=pmid11514567/><ref name=pmid9632709/>
* [[RUNX1]],<ref name=pmid12460926/>
* [[RUNX1T1]],<ref name=pmid12460926/>
* [[SNW1]],<ref name="pmid11514567">{{citeCita journalpublicación periódica | vauthors = Zhang C, Baudino TA, Dowd DR, Tokumaru H, Wang W, MacDonald PN | title = Ternary complexes and cooperative interplay between NCoA-62/Ski-interacting protein and steroid receptor coactivators in vitamin D receptor-mediated transcription | journal = J. Biol. Chem. | volume = 276 | issue = 44 | pages = 40614–20 | date = November 2001 | pmid = 11514567 | doi = 10.1074/jbc.M106263200 }}</ref><ref name="pmid9632709">{{citeCita journalpublicación periódica | vauthors = Baudino TA, Kraichely DM, Jefcoat SC, Winchester SK, Partridge NC, MacDonald PN | title = Isolation and characterization of a novel coactivator protein, NCoA-62, involved in vitamin D-mediated transcription | journal = J. Biol. Chem. | volume = 273 | issue = 26 | pages = 16434–41 | date = June 1998 | pmid = 9632709 | doi = 10.1074/jbc.273.26.16434 }}</ref>
* [[STAT1]],<ref name="pmid11909970">{{citeCita journalpublicación periódica | vauthors = Vidal M, Ramana CV, Dusso AS | title = Stat1-Vitamin D Receptor Interactions Antagonize 1,25-Dihydroxyvitamin D Transcriptional Activity and Enhance Stat1-Mediated Transcription | journal = Mol. Cell. Biol. | volume = 22 | issue = 8 | pages = 2777–87 | date = April 2002 | pmid = 11909970 | pmc = 133712 | doi = 10.1128/MCB.22.8.2777-2787.2002 }}</ref> e
* [[Zinc finger and BTB domain-containing protein 16|ZBTB16]].<ref name="pmid12460926">{{citeCita journalpublicación periódica | vauthors = Puccetti E, Obradovic D, Beissert T, Bianchini A, Washburn B, Chiaradonna F, Boehrer S, Hoelzer D, Ottmann OG, Pelicci PG, Nervi C, Ruthardt M | title = AML-associated translocation products block vitamin D(3)-induced differentiation by sequestering the vitamin D(3) receptor | journal = Cancer Res. | volume = 62 | issue = 23 | pages = 7050–8 | date = December 2002 | pmid = 12460926 | doi = }}</ref><ref name="pmid11719366">{{citeCita journalpublicación periódica | vauthors = Ward JO, McConnell MJ, Carlile GW, Pandolfi PP, Licht JD, Freedman LP | title = The acute promyelocytic leukemia-associated protein, promyelocytic leukemia zinc finger, regulates 1,25-dihydroxyvitamin D(3)-induced monocytic differentiation of U937 cells through a physical interaction with vitamin D(3) receptor | journal = Blood | volume = 98 | issue = 12 | pages = 3290–300 | date = December 2001 | pmid = 11719366 | doi = 10.1182/blood.V98.12.3290 }}</ref>
 
== Notas ==
== Véxase tamén ==
=== Bibliografía ===
* {{citeCita journalpublicación periódica | vauthors = Hosoi T | title = [Polymorphisms of vitamin D receptor gene] | journal = Nippon Rinsho | volume = 60 Suppl 3 | issue = | pages = 106–10 | year = 2002 | pmid = 11979895 | doi = }}
* {{citeCita journalpublicación periódica | vauthors = Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP | title = Genetics and biology of vitamin D receptor polymorphisms | journal = Gene | volume = 338 | issue = 2 | pages = 143–56 | year = 2004 | pmid = 15315818 | doi = 10.1016/j.gene.2004.05.014 }}
* {{citeCita journalpublicación periódica | vauthors = Norman AW | title = Minireview: vitamin D receptor: new assignments for an already busy receptor | journal = Endocrinology | volume = 147 | issue = 12 | pages = 5542–8 | year = 2007 | pmid = 16946007 | doi = 10.1210/en.2006-0946 }}
* {{citeCita journalpublicación periódica | vauthors = Bollag WB | title = Differentiation of human keratinocytes requires the vitamin d receptor and its coactivators | journal = J. Invest. Dermatol. | volume = 127 | issue = 4 | pages = 748–50 | year = 2007 | pmid = 17363957 | doi = 10.1038/sj.jid.5700692 }}
* {{citeCita journalpublicación periódica | vauthors = Bugge TH, Pohl J, Lonnoy O, Stunnenberg HG | title = RXR alpha, a promiscuous partner of retinoic acid and thyroid hormone receptors | journal = EMBO J. | volume = 11 | issue = 4 | pages = 1409–18 | year = 1992 | pmid = 1314167 | pmc = 556590 | doi = }}
* {{citeCita journalpublicación periódica | vauthors = Goto H, Chen KS, Prahl JM, DeLuca HF | title = A single receptor identical with that from intestine/T47D cells mediates the action of 1,25-dihydroxyvitamin D-3 in HL-60 cells | journal = Biochim. Biophys. Acta | volume = 1132 | issue = 1 | pages = 103–8 | year = 1992 | pmid = 1324736 | doi = 10.1016/0167-4781(92)90063-6 }}
* {{citeCita journalpublicación periódica | vauthors = Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, Sone T, Pike JW, Kuroda Y | title = A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection | journal = Am. J. Hum. Genet. | volume = 49 | issue = 3 | pages = 668–73 | year = 1991 | pmid = 1652893 | pmc = 1683124 | doi = }}
* {{citeCita journalpublicación periódica | vauthors = Szpirer J, Szpirer C, Riviere M, Levan G, Marynen P, Cassiman JJ, Wiese R, DeLuca HF | title = The Sp1 transcription factor gene (SP1) and the 1,25-dihydroxyvitamin D3 receptor gene (VDR) are colocalized on human chromosome arm 12q and rat chromosome 7 | journal = Genomics | volume = 11 | issue = 1 | pages = 168–73 | year = 1992 | pmid = 1662663 | doi = 10.1016/0888-7543(91)90114-T }}
* {{citeCita journalpublicación periódica | vauthors = Yu XP, Mocharla H, Hustmyer FG, Manolagas SC | title = Vitamin D receptor expression in human lymphocytes. Signal requirements and characterization by western blots and DNA sequencing | journal = J. Biol. Chem. | volume = 266 | issue = 12 | pages = 7588–95 | year = 1991 | pmid = 1850412 | doi = }}
* {{citeCita journalpublicación periódica | vauthors = Malloy PJ, Hochberg Z, Tiosano D, Pike JW, Hughes MR, Feldman D | title = The molecular basis of hereditary 1,25-dihydroxyvitamin D3 resistant rickets in seven related families | journal = J. Clin. Invest. | volume = 86 | issue = 6 | pages = 2071–9 | year = 1991 | pmid = 2174914 | pmc = 329846 | doi = 10.1172/JCI114944 }}
* {{citeCita journalpublicación periódica | vauthors = Sone T, Marx SJ, Liberman UA, Pike JW | title = A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary resistance to 1,25-dihydroxyvitamin D3 | journal = Mol. Endocrinol. | volume = 4 | issue = 4 | pages = 623–31 | year = 1991 | pmid = 2177843 | doi = 10.1210/mend-4-4-623 }}
* {{citeCita journalpublicación periódica | vauthors = Baker AR, McDonnell DP, Hughes M, Crisp TM, Mangelsdorf DJ, Haussler MR, Pike JW, Shine J, O'Malley BW | title = Cloning and expression of full-length cDNA encoding human vitamin D receptor | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 85 | issue = 10 | pages = 3294–8 | year = 1988 | pmid = 2835767 | pmc = 280195 | doi = 10.1073/pnas.85.10.3294 }}
* {{citeCita journalpublicación periódica | vauthors = Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, Feldman D, O'Malley BW | title = Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets | journal = Science | volume = 242 | issue = 4886 | pages = 1702–5 | year = 1989 | pmid = 2849209 | doi = 10.1126/science.2849209 }}
* {{citeCita journalpublicación periódica | vauthors = Rut AR, Hewison M, Kristjansson K, Luisi B, Hughes MR, O'Riordan JL | title = Two mutations causing vitamin D resistant rickets: modelling on the basis of steroid hormone receptor DNA-binding domain crystal structures | journal = Clin. Endocrinol. | volume = 41 | issue = 5 | pages = 581–90 | year = 1995 | pmid = 7828346 | doi = 10.1111/j.1365-2265.1994.tb01822.x }}
* {{citeCita journalpublicación periódica | vauthors = Malloy PJ, Weisman Y, Feldman D | title = Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain | journal = J. Clin. Endocrinol. Metab. | volume = 78 | issue = 2 | pages = 313–6 | year = 1994 | pmid = 8106618 | doi = 10.1210/jc.78.2.313 }}
* {{citeCita journalpublicación periódica | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
* {{citeCita journalpublicación periódica | vauthors = Yagi H, Ozono K, Miyake H, Nagashima K, Kuroume T, Pike JW | title = A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets | journal = J. Clin. Endocrinol. Metab. | volume = 76 | issue = 2 | pages = 509–12 | year = 1993 | pmid = 8381803 | doi = 10.1210/jc.76.2.509 }}
* {{citeCita journalpublicación periódica | vauthors = Kristjansson K, Rut AR, Hewison M, O'Riordan JL, Hughes MR | title = Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihydroxyvitamin D3 | journal = J. Clin. Invest. | volume = 92 | issue = 1 | pages = 12–6 | year = 1993 | pmid = 8392085 | pmc = 293517 | doi = 10.1172/JCI116539 }}
* {{citeCita journalpublicación periódica | vauthors = Jurutka PW, Hsieh JC, Nakajima S, Haussler CA, Whitfield GK, Haussler MR | title = Human vitamin D receptor phosphorylation by casein kinase II at Ser-208 potentiates transcriptional activation | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 8 | pages = 3519–24 | year = 1996 | pmid = 8622969 | pmc = 39642 | doi = 10.1073/pnas.93.8.3519 }}
* {{citeCita journalpublicación periódica | vauthors = Lin NU, Malloy PJ, Sakati N, al-Ashwal A, Feldman D | title = A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets | journal = J. Clin. Endocrinol. Metab. | volume = 81 | issue = 7 | pages = 2564–9 | year = 1996 | pmid = 8675579 | doi = 10.1210/jc.81.7.2564 }}
 
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