Identification of a missense mutation in the αA-crystallin gene of the lop18 mouse

Molecular Vision

Volumn 5, Issue 21, 1999, Pages

  Chang, B ^a   Hawes, N L ^a   Roderick, T H ^a   Smith, R S ^a   Heckenlively, J R ^b,c   Horwitz, J ^c   Davisson, M T ^a  

^a JACKSON LABORATORY   (United States)

^b JULES STEIN EYE INSTITUTE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33947237989     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Wistow GJ, Piatigorsky J. Lens crystallins: the evolution and expression of proteins for a highly specialized tissue. Annu Rev Biochem 1988; 57:479-504.
2. Zwann J. The appearance of alpha-crystallin in relation to cell cycle phase in the embryonic mouse lens. Dev Biol 1983; 96:173-81.
3. King CR, Piatigorsky J. Alternative RNA splicing of the murine alpha A-crystallin gene: protein-coding information within an intron. Cell 1983; 32:707-12.
4. King CR, Piatigorsky J. Alternative splicing of alpha A-crystallin RNA. Structural and quantitative analyses of the mRNAs for the alpha A2- and alpha Ains-crystallin polypeptides. J Biol Chem 1984; 259:1822-6.
5. Kato K, Shinohara H, Goto S, Inaguma Y, Morishita R, Asano T. Copurification of small heat shock protein with alpha B crystallin from human skeletal muscle. J Biol Chem 1992; 267:7718-25.
6. Srinivasan AN, Nagineni CN, Bhat SP. alpha A-crystallin is expressed in non-ocular tissues. J Biol Chem 1992; 267:23337-41.
7. Deretic D, Aebersold RH, Morrison HD, Papermaster DS. Alpha A- and alpha B-crystallin in the retina. Association with the post-Golgi compartment of frog retinal photoreceptors. J Biol Chem 1994; 269:16853-61.
8. Bhat SP, Nagineni CN. alpha B subunit of lens-specific protein alpha-crystallin is present in other ocular and non-ocular tissues. Biochem Biophys Res Commun 1989; 158:319-25.
9. Dubin RA, Wawrousek EF, Piatigorsky J. Expression of the murine alpha B-crystallin is not restricted to the lens. Mol Cell Biol 1989; 9:1083-91.
10. Graw J. The crystallins: proteins and diseases. Biol Chem 1997; 378:1331-48.
11. Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998; 20:92-5.
12. Brady JP, Garland D, Duglas-Tabor Y, Robison WG Jr, Groome A, Wawrousek EF. Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. Proc Natl Acad Sci U S A 1997; 94:884-9.
13. Andley UP, Song Z, Wawrousek EF, Bassnett S. The molecular chaperone alphaA-crystallin enhances lens epithelial cell growth and resistance to UVA stress. J Biol Chem 1998; 273:31252-61.
14. Chang B, Hawes NL, Smith RS, Heckenlively JR, Davisson MT, Roderick TH. Chromosomal localization of a new mouse lens opacity gene. Genomics 1996; 36:171-3.
15. Kaye NW, Church RL, Piatigorsky J, Petrash JM, Lalley PA. Assignment of the mouse alpha A-crystallin structural gene to chromosome 17. Curr Eye Res 1985; 4:1263-8.
16. Kaye NW, Lalley PA, Petrash JM, Church RL. Regional assignment of the mouse alpha A2-crystallin gene (Crya-1) to chromosome 17A3 - B by in situ hybridization. Cytogenet Cell Genet 1990; 53:95-6.
17. Skow LC, Donner ME. The locus encoding alphaA-crystallin is closely linked to H-2K on mouse chromosome 17. Genetics 1985; 110:723-32.
18. Skow LC, Nadeau JN, Ahn JC, Shin HS, Artzt K, Bennett D. Polymorphism and linkage of the alpha A-crystallin gene in t-haplotypes of the mouse. Genetics 1987; 116:107-11.
19. Taylor BA, Rowe L. Genes for serum amyloid A proteins map to Chromosome 7 in the mouse. Mol Gen Genet 1984; 195:491-9.
20. Hawes NL, Roderick TH, Chang B, Heckenlively JR. Mouse cataract models; characterization and linkage data. Invest Ophthalmol Vis Sci 1996; 37:8988.
21. Runge PE, Hawes NL, Heckenlively JR, Langley SH, Roderick TH. Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes. Invest Ophthalmol Vis Sci 1992; 33:3202-8.
22. Smith RS, Hawes NL, Kuhlmann SD, Heckenlively JR, Chang B, Roderick TH, Sundberg JP. Cornl: a mouse model for corneal surface disease and neovascularization. Invest Ophthalmol Vis Sci 1996; 37:397-404.
23. Kuck JF, Kuwabara T, Kuck KD. The Emory mouse cataract: an animal model for human senile cataract. Curr Eye Res 1981-82; 1:643-9.
24. Kuck JF. Late onset hereditary cataract of the emory mouse. A model for human senile cataract. Exp Eye Res 1990; 50:659-64.
25. Groenen PJ, Merck KB, de Jong WW, Bloemendal H. Structure and modifications of the junior chaperone alpha-crystallin. From lens transparency to molecular pathology. Eur J Biochem 1994; 225:1-19.
26. Tardieu A. Eye lens proteins and transparency: from light transmission theory to solution X-ray structural analysis. Annu Rev Biophys Biophys Chem 1988; 17:47-70.
27. de Jong WW, Zweers A, Versteeg M, Nuy-Terwindt EC. Primary structures of the alpha-crystallin A chains of twenty-eight mammalian species, chicken and frog. Eur J Biochem 1984; 141:131-40.
28. de Jong WW, van der Ouderaa J, Versteeg M, Groenewoud G, van Amelsvoort JM, Bloemendal H. Primary structures of the alpha-crystallin A chains of seven mammalian species. Eur J Biochem 1975; 53:237-42.
29. King CR, Shinohara T, Piatigorsky J. alpha A-crystallin messenger RNA of the mouse lens: more noncoding than coding sequences. Science 1982; 215:985-7.
30. Koteiche HA, Berengian AR, Mchaourab HS. Identification of protein folding patterns using site-directed spin labeling. Structural characterization of a beta-sheet and putative substrate binding regions in the conserved domain of alpha A-crystallin. Biochemistry 1998; 37:12681-8.
31. Berengian AR, Bova MP, Mchaourab HS. Structure and function of the conserved domain in alphaA-crystallin. Site-directed spin labeling identifies a beta-strand located near a subunit interface. Biochemistry 1997; 36:9951-7.
32. Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998; 7:471-4.