MSX1


MSX1
Msh homeobox 1
Protein MSX1 PDB 1ig7.png
Estructura tridimensional de la proteína MSX1.
HUGO 7391
Símbolo MSX1
Símbolos alt. HOX7; HYD1
Datos genéticos
Locus Cr. 4 p16.2
Bases de datos
Entrez 4487
OMIM 142983
PDB 1ig7
RefSeq NP_002439
UniProt P28360

Msh homeobox 1, también conocida como MSX1, es una proteína codificada en humanos por el gen msx1.[1] [2]

Contenido

Función

Esta proteína pertenece a la familia de genes homeóticos de segmentación muscular, y actúa como un represor transcripcional durante el proceso de embriogénesis por medio de interacciones con componentes del complejo de transcripción y con otras homeoproteínas. También podría tener un papel en la formación del patrón límbico, en el desarrollo craneofacial, especialmente en la odontogénesis, y en la inhibición del crecimiento de tumores. Se han asociado mutaciones en este gen, inicialmente conocido como homeobox 7, con labio leporino no sindrómico con o sin paladar hendido,[3] [4] [5] síndrome de Witkop, síndrome de Wolf-Hirschhorn e hipodontia autosómica dominante.[6]

Interacciones

La proteína MSX1 ha demostrado ser capaz de interaccionar con:

Referencias

  1. Hewitt JE, Clark LN, Ivens A, Williamson R (November 1991). «Structure and sequence of the human homeobox gene HOX7». Genomics 11 (3):  pp. 670–8. doi:10.1016/0888-7543(91)90074-O. PMID 1685479. 
  2. McAlpine PJ, Shows TB (July 1990). «[h Nomenclature for human homeobox genes]». Genomics 7 (3):  pp. 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146. h. 
  3. van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK (April 2000). «MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans». Nat. Genet. 24 (4):  pp. 342–3. doi:10.1038/74155. PMID 10742093. 
  4. Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M, O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, Christensen K, Orioli IM, Castilla EE, Machida J, Natsume N, Murray JC (June 2003). «Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate». J. Med. Genet. 40 (6):  pp. 399–407. doi:10.1136/jmg.40.6.399. PMID 12807959. 
  5. Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M, Cooper ME, Viet le T, Nguyen TD, Hai H, Natsume N, Shimozato K, Marazita ML, Murray JC (2004). «In a Vietnamese population, MSX1 variants contribute to cleft lip and palate». Genet. Med. 6 (3):  pp. 117–25. PMID 15354328. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1098-3600&volumen=6&número=3&spage=117. 
  6. «Entrez Gene: MSX1 msh homeobox 1».
  7. a b c d Zhang, H; Hu G, Wang H, Sciavolino P, Iler N, Shen M M, Abate-Shen C (May. 1997). «Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism». Mol. Cell. Biol. (UNITED STATES) 17 (5):  pp. 2920–32. ISSN 0270-7306. PMID 9111364. 
  8. a b c Shetty, S; Takahashi T, Matsui H, Ayengar R, Raghow R (May. 1999). «Transcriptional autorepression of Msx1 gene is mediated by interactions of Msx1 protein with a multi-protein transcriptional complex containing TATA-binding protein, Sp1 and cAMP-response-element-binding protein-binding protein (CBP/p300)». Biochem. J. (ENGLAND) 339 ( Pt 3):  pp. 751–8. ISSN 0264-6021. PMID 10215616. 
  9. Zhang, H; Catron K M, Abate-Shen C (Mar. 1996). «A role for the Msx-1 homeodomain in transcriptional regulation: residues in the N-terminal arm mediate TATA binding protein interaction and transcriptional repression». Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 93 (5):  pp. 1764–9. ISSN 0027-8424. PMID 8700832. 

Enlaces externos


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