CRB1
| Crumbs homolog 1 (Drosophila) | |||||||||||
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| Symbols | CRB1 ; LCA8; RP12 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 8092 | ||||||||||
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| Species | Human | Mouse | |||||||||
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Crumbs homolog 1 (Drosophila), also known as CRB1, is a human gene.[1]
This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined.[1]
References
Further reading
- den Hollander AI, Davis J, van der Velde-Visser SD; et al. (2005). "CRB1 mutation spectrum in inherited retinal dystrophies". Hum. Mutat. 24 (5): 355–69. doi:10.1002/humu.20093. PMID 15459956.
- van Soest S, Ingeborgh van den Born L, Gal A; et al. (1995). "Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population". Genomics. 22 (3): 499–504. PMID 8001962.
- van Soest S, te Nijenhuis S, van den Born LI; et al. (1996). "Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC)". Cytogenet. Cell Genet. 73 (1–2): 81–5. PMID 8646891.
- den Hollander AI, van Driel MA, de Kok YJ; et al. (1999). "Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization". Genomics. 58 (3): 240–9. doi:10.1006/geno.1999.5823. PMID 10373321.
- den Hollander AI, ten Brink JB, de Kok YJ; et al. (1999). "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)". Nat. Genet. 23 (2): 217–21. doi:10.1038/13848. PMID 10508521.
- Lotery AJ, Jacobson SG, Fishman GA; et al. (2001). "Mutations in the CRB1 gene cause Leber congenital amaurosis". Arch. Ophthalmol. 119 (3): 415–20. PMID 11231775.
- den Hollander AI, Heckenlively JR, van den Born LI; et al. (2001). "Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene". Am. J. Hum. Genet. 69 (1): 198–203. PMID 11389483.
- Lotery AJ, Malik A, Shami SA; et al. (2001). "CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation". Ophthalmic Genet. 22 (3): 163–9. PMID 11559858.
- den Hollander AI, Johnson K, de Kok YJ; et al. (2002). "CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila". Hum. Mol. Genet. 10 (24): 2767–73. PMID 11734541.
- Izaddoost S, Nam SC, Bhat MA; et al. (2002). "Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres". Nature. 416 (6877): 178–83. doi:10.1038/nature720. PMID 11850624.
- Roh MH, Makarova O, Liu CJ; et al. (2002). "The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost". J. Cell Biol. 157 (1): 161–72. doi:10.1083/jcb.200109010. PMID 11927608.
- Gerber S, Perrault I, Hanein S; et al. (2003). "A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis". Ophthalmic Genet. 23 (4): 225–35. PMID 12567265.
- Khaliq S, Abid A, Hameed A; et al. (2003). "Mutation screening of Pakistani families with congenital eye disorders". Exp. Eye Res. 76 (3): 343–8. PMID 12573663.
- Jacobson SG, Cideciyan AV, Aleman TS; et al. (2003). "Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination". Hum. Mol. Genet. 12 (9): 1073–8. PMID 12700176.
- Bernal S, Calaf M, Garcia-Hoyos M; et al. (2003). "Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa". J. Med. Genet. 40 (7): e89. PMID 12843338.
- Hanein S, Perrault I, Gerber S; et al. (2004). "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis". Hum. Mutat. 23 (4): 306–17. doi:10.1002/humu.20010. PMID 15024725.
- McKay GJ, Clarke S, Davis JA; et al. (2005). "Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene". Invest. Ophthalmol. Vis. Sci. 46 (1): 322–8. doi:10.1167/iovs.04-0734. PMID 15623792.
- Kantardzhieva A, Gosens I, Alexeeva S; et al. (2005). "MPP5 recruits MPP4 to the CRB1 complex in photoreceptors". Invest. Ophthalmol. Vis. Sci. 46 (6): 2192–201. doi:10.1167/iovs.04-1417. PMID 15914641.
- Booij JC, Florijn RJ, ten Brink JB; et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42 (11): e67. doi:10.1136/jmg.2005.035121. PMID 16272259.
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