Strabismus (protein)

Strabismus was originally identified as a Drosophila protein involved in planar cell polarity.[1] Flies with mutated strabismus genes have altered development of ommatidia in their eyes. Vertebrates have two Strabismus-related proteins, VANGL1 and VANGL2 (an alternate name for the Drosophila "Strabismus" protein is "Van Gogh").

vang-like 1 (van gogh, Drosophila)
Identifiers
SymbolVANGL1
NCBI gene81839
OMIM610132

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
vang-like 2 (van gogh, Drosophila)
Identifiers
SymbolVANGL2
NCBI gene57216
OMIM600533

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]

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References
  1. Wolff T, Rubin GM (March 1998). "Strabismus, a novel gene that regulates tissue polarity and cell fate decisions in Drosophila". Development. 125 (6): 1149–59. PMID 9463361.
  2. Bastock R, Strutt H, Strutt D (July 2003). "Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning". Development. 130 (13): 3007–14. doi:10.1242/dev.00526. PMID 12756182.
  3. Fanto M, McNeill H (February 2004). "Planar polarity from flies to vertebrates". J. Cell Sci. 117 (Pt 4): 527–33. doi:10.1242/jcs.00973. PMID 14730010.
  4. Darken RS, Scola AM, Rakeman AS, Das G, Mlodzik M, Wilson PA (March 2002). "The planar polarity gene strabismus regulates convergent extension movements in Xenopus". EMBO J. 21 (5): 976–85. doi:10.1093/emboj/21.5.976. PMC 125882. PMID 11867525.
  5. 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.
  6. 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. doi:10.3892/ijo.20.6.1173. PMID 12011995.
  7. Katoh M (2002). "Strabismus (STB)/Vang-like (VANGL) gene family". Int. J. Mol. Med. 10 (1): 11–5. doi:10.3892/ijmm.10.1.11. PMID 12060845.
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