Strabismus (protein)
| vang-like 1 (van gogh, Drosophila) | |
|---|---|
| Identifiers | |
| Symbol | VANGL1 |
| Entrez | 81839 |
| OMIM | 610132 |
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
| vang-like 2 (van gogh, Drosophila) | |
|---|---|
| Identifiers | |
| Symbol | VANGL2 |
| Entrez | 57216 |
| OMIM | 600533 |
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
- ↑ 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.
- ↑ 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. PMID 12756182. doi:10.1242/dev.00526.
- ↑ Fanto M, McNeill H (February 2004). "Planar polarity from flies to vertebrates". J. Cell. Sci. 117 (Pt 4): 527–33. PMID 14730010. doi:10.1242/jcs.00973.
- ↑ 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. PMC 125882
. PMID 11867525. doi:10.1093/emboj/21.5.976. - ↑ 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. PMID 17409324. doi:10.1056/NEJMoa060651.
- ↑ 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. doi:10.3892/ijo.20.6.1173.
- ↑ Katoh M (2002). "Strabismus (STB)/Vang-like (VANGL) gene family". Int. J. Mol. Med. 10 (1): 11–5. PMID 12060845. doi:10.3892/ijmm.10.1.11.