ZEB2
Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene.[1]
Function
The SMADIP1 gene (also known as SIP1) is a member of the delta-EF1 (TCF8)/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SMADIP1 interacts with receptor-mediated, activated full-length SMADs.[1]
Clinical significance
Mutations in the ZEB2 gene are associated with the Mowat-Wilson syndrome.
References
Further reading
- Mowat DR, Wilson MJ, Goossens M (May 2003). "Mowat-Wilson syndrome". Journal of Medical Genetics 40 (5): 305–10. doi:10.1136/jmg.40.5.305. PMC 1735450. PMID 12746390.
- Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
- Ueki N, Oda T, Kondo M, Yano K, Noguchi T, Muramatsu M (Dec 1998). "Selection system for genes encoding nuclear-targeted proteins". Nature Biotechnology 16 (13): 1338–42. doi:10.1038/4315. PMID 9853615.
- Verschueren K, Remacle JE, Collart C, Kraft H, Baker BS, Tylzanowski P, Nelles L, Wuytens G, Su MT, Bodmer R, Smith JC, Huylebroeck D (Jul 1999). "SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes". The Journal of Biological Chemistry 274 (29): 20489–98. doi:10.1074/jbc.274.29.20489. PMID 10400677.
- Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M (Apr 2001). "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease". Nature Genetics 27 (4): 369–70. doi:10.1038/86860. PMID 11279515.
- Comijn J, Berx G, Vermassen P, Verschueren K, van Grunsven L, Bruyneel E, Mareel M, Huylebroeck D, van Roy F (Jun 2001). "The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion". Molecular Cell 7 (6): 1267–78. doi:10.1016/S1097-2765(01)00260-X. PMID 11430829.
- Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M (Jul 2001). "Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease". Human Molecular Genetics 10 (14): 1503–10. doi:10.1093/hmg/10.14.1503. PMID 11448942.
- Tylzanowski P, Verschueren K, Huylebroeck D, Luyten FP (Oct 2001). "Smad-interacting protein 1 is a repressor of liver/bone/kidney alkaline phosphatase transcription in bone morphogenetic protein-induced osteogenic differentiation of C2C12 cells". The Journal of Biological Chemistry 276 (43): 40001–7. doi:10.1074/jbc.M104112200. PMID 11477103.
- Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya M, Wakamatsu N (Dec 2001). "Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features". American Journal of Human Genetics 69 (6): 1178–85. doi:10.1086/324343. PMC 1235530. PMID 11592033.
- Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S (Dec 2001). "Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures". American Journal of Human Genetics 69 (6): 1370–7. doi:10.1086/324342. PMC 1235547. PMID 11595972.
- Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A (Mar 2002). ""Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene". American Journal of Medical Genetics 108 (3): 177–81. doi:10.1002/ajmg.10226. PMID 11891681.
- Nagaya M, Kato J, Niimi N, Tanaka S, Wakamatsu N (Aug 2002). "Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality". Journal of Pediatric Surgery 37 (8): 1117–22. doi:10.1053/jpsu.2002.34455. PMID 12149685.
- Guaita S, Puig I, Franci C, Garrido M, Dominguez D, Batlle E, Sancho E, Dedhar S, De Herreros AG, Baulida J (Oct 2002). "Snail induction of epithelial to mesenchymal transition in tumor cells is accompanied by MUC1 repression and ZEB1 expression". The Journal of Biological Chemistry 277 (42): 39209–16. doi:10.1074/jbc.M206400200. PMID 12161443.
- Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T (Jun 2002). "Expression of the SMADIP1 gene during early human development". Mechanisms of Development 114 (1-2): 187–91. doi:10.1016/S0925-4773(02)00062-X. PMID 12175509.
- Yoneda M, Fujita T, Yamada Y, Yamada K, Fujii A, Inagaki T, Nakagawa H, Shimada A, Kishikawa M, Nagaya M, Azuma T, Kuriyama M, Wakamatsu N (Nov 2002). "Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B". Neurology 59 (10): 1637–40. doi:10.1212/01.wnl.0000034842.78350.4e. PMID 12451214.
- Postigo AA (May 2003). "Opposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathway". The EMBO Journal 22 (10): 2443–52. doi:10.1093/emboj/cdg225. PMC 155983. PMID 12743038.
- Postigo AA, Depp JL, Taylor JJ, Kroll KL (May 2003). "Regulation of Smad signaling through a differential recruitment of coactivators and corepressors by ZEB proteins". The EMBO Journal 22 (10): 2453–62. doi:10.1093/emboj/cdg226. PMC 155984. PMID 12743039.
- Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A (Aug 2003). "Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome". Journal of Medical Genetics 40 (8): 601–5. doi:10.1136/jmg.40.8.601. PMC 1735564. PMID 12920073.
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External links
- GeneReviews/NIH/NCBI/UW entry on Mowat-Wilson syndrome
- ZEB2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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