BFSP2
BFSP2 is a gene that encodes the protein phakinin in humans.[3]
More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.[3]
References
Further reading
- Merdes A, Gounari F, Georgatos SD (1994). "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin.". J. Cell Biol. 123 (6 Pt 1): 1507–16. doi:10.1083/jcb.123.6.1507. PMC 2290875
. PMID 7504675.
- Hess JF, Casselman JT, FitzGerald PG (1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.". Curr. Eye Res. 14 (1): 11–8. doi:10.3109/02713689508999909. PMID 7720401.
- Hess JF, Casselman JT, FitzGerald PG (1996). "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein.". J. Biol. Chem. 271 (12): 6729–35. doi:10.1074/jbc.271.41.25089. PMID 8636093.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Hess JF, Casselman JT, Kong AP, FitzGerald PG (1998). "Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein.". Exp. Eye Res. 66 (5): 625–44. doi:10.1006/exer.1998.0478. PMID 9628810.
- Conley YP, Erturk D, Keverline A, et al. (2000). "A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.". Am. J. Hum. Genet. 66 (4): 1426–31. doi:10.1086/302871. PMC 1288209. PMID 10729115.
- Jakobs PM, Hess JF, FitzGerald PG, et al. (2000). "Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.". Am. J. Hum. Genet. 66 (4): 1432–6. doi:10.1086/302872. PMC 1288210. PMID 10739768.
- Carter JM, McLean WH, West S, Quinlan RA (2000). "Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract.". Biochem. Biophys. Res. Commun. 270 (2): 432–6. doi:10.1006/bbrc.2000.2442. PMID 10753642.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Zhang Q, Guo X, Xiao X, et al. (2005). "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.". Mol. Vis. 10: 890–900. PMID 15570218.
- Zhang L, Gao L, Li Z, et al. (2007). "Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.". Mol. Vis. 12: 1626–31. PMID 17200662.
- Cui X, Gao L, Jin Y, et al. (2007). "The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.". Mol. Vis. 13: 2023–9. PMID 17982427.
