Strabismus (protein)
Template:ProteinShort
Strabismus was originally identified as a Drosophila protein involved in planar cell polarity [1]. Flies with mutated stranismus genes have altered development of omatidia in their eyes. Vertebrates have two Strabismus-related proteins, VANGL1 and VANGL2 (an alternate name for the Drosophila "Strabismus" protein is "Van Gogh").
The amino acid sequence and localization studies for Strabismus indicate that it is a membrane protein. Prickle is another protein in the planar cell polarity signaling pathway. Prickle is recruited to the cell surface membrane by strabismus[2]. In cells of the developing Drosophila wing, Prickle and Strabismus are concentrated at the cell surface membrane on the most proximal side of cells[3].
Vertebrate cell movement
Template:ProteinShort VANGL2 is involved in the migration of groups of cells during vertebrate embryogenesis[4].
Humans
In humans, mutations in VANGL1 have been associated with neural tube defects including spina bifida,[5] and with some forms of cancer including hepatocellular carcinoma.[6][7]
References
- ↑ Tanya Wolff and Gerald M. Rubin (1998) "Strabismus, a novel gene that regulates tissue polarity and cell fate decisions in Drosophila" in Development Volume 125, pages 1149-1159. Template:Entrez Pubmed
- ↑ R. Bastock, H. Strutt and D. Strutt (2003) "Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning" in Development Volume 130, pages 3007-3014. Template:Entrez Pubmed
- ↑ M. Fanto and H. McNeill (2004) "Planar polarity from flies to vertebrates" in Journal of Cell Science Volume 117, pages 527-533. Template:Entrez Pubmed
- ↑ Rachel S. Darken, Adriane M. Scola, Andrew S. Rakeman, Gishnu Das, Marek Mlodzik and Paul A. Wilson (2002) "The planar polarity gene strabismus regulates convergent extension movements in Xenopus" in EMBO Journal Volume 21, pages 976-985. Template:Entrez Pubmed
- ↑ Kibar Z, Torban E, McDearmid JR, Reynolds A, Berghout J, Mathieu M, Kirillova I, De Marco P, Merello E, Hayes JM, Wallingford JB, Drapeau P, Capra V, Gros P (2007). "Mutations in VANGL1 associated with neural-tube defects". N. Engl. J. Med. 356 (14): 1432–7. doi:10.1056/NEJMoa060651. PMID 17409324.
- ↑ Yagyu R, Hamamoto R, Furukawa Y, Okabe H, Yamamura T, Nakamura Y (2002). "Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma". Int. J. Oncol. 20 (6): 1173–8. PMID 12011995.
- ↑ Katoh M (2002). "Strabismus (STB)/Vang-like (VANGL) gene family (Review)". Int. J. Mol. Med. 10 (1): 11–5. PMID 12060845.