Strabismus (protein) explained

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").

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

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]}

Notes and References

1. Wolff T, Rubin GM . Strabismus, a novel gene that regulates tissue polarity and cell fate decisions in Drosophila . Development . 125 . 6 . 1149–59 . March 1998 . 10.1242/dev.125.6.1149 . 9463361 .
2. 10.1242/dev.00526 . Bastock R, Strutt H, Strutt D . Strabismus is asymmetrically localised and binds to Prickle and Dishevelled during Drosophila planar polarity patterning . Development . 130 . 13 . 3007–14 . July 2003 . 12756182 . free .
3. Fanto M, McNeill H . Planar polarity from flies to vertebrates . J. Cell Sci. . 117 . Pt 4 . 527–33 . February 2004 . 14730010 . 10.1242/jcs.00973 .
4. Darken RS, Scola AM, Rakeman AS, Das G, Mlodzik M, Wilson PA . The planar polarity gene strabismus regulates convergent extension movements in Xenopus . EMBO J. . 21 . 5 . 976–85 . March 2002 . 11867525 . 125882 . 10.1093/emboj/21.5.976 .
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 . Mutations in VANGL1 associated with neural-tube defects. . N. Engl. J. Med. . 356 . 14 . 1432–7 . 2007 . 17409324 . 10.1056/NEJMoa060651 . free .
6. Yagyu R, Hamamoto R, Furukawa Y, Okabe H, Yamamura T, Nakamura Y . Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma. . Int. J. Oncol. . 20 . 6 . 1173–8 . 2002 . 12011995 . 10.3892/ijo.20.6.1173 .
7. Katoh M . Strabismus (STB)/Vang-like (VANGL) gene family . Int. J. Mol. Med. . 10 . 1 . 11–5 . 2002 . 12060845 . 10.3892/ijmm.10.1.11 .