Three murine cataract mutants (Cat2) are defective in different γ- crystallin genes

Genomics

Volumn 52, Issue 2, 1998, Pages 152-158

  Klopp, Norman ^a   Favor, Jack ^a   Löster, Jana ^a   Lutz, Raimund B ^a   Neuhäuser Klaus, Angelika ^a   Prescott, Alan ^b   Pretsch, Walter ^a   Quinlan, Roy A ^b   Sandilands, Aileen ^b   Vrensen, Gijs F J M ^c   Graw, Jochen ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

Author keywords

Cataract; Eye lens; Mouse; Mutation; Sequence analysis; crystallin

Indexed keywords

GAMMA CRYSTALLIN;

ALLELISM; ANIMAL MODEL; ARTICLE; CATARACT; CHROMOSOME 1; EXON; GENE CLUSTER; GENE DELETION; GENE INSERTION; GENE LOCATION; GENETIC ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FOLDING; SEQUENCE ANALYSIS;

ANIMALIA; MURINAE;

EID: 0032169097     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5417     Document Type: Article

References (31)

1. Breitman M. L., Lok S., Wistow G., Piatigorsky J., Tréton J. A., Gold R. J. M., Tsui L.-C. γ-Crystallin family of the mouse lens: Structural and evolutionary relationships. Proc. Natl. Acad. Sci. USA. 81:1984;7762-7766.
2. Cartier M., Breitman M. L., Tsui L.-C. A frameshift mutation in the γE-crystallin gene of theElo. Nat. Genet. 2:1992;42-45.
3. den Dunnen J. T., van Neck J. W., Cremers F. P. M., Lubsen N. H., Schoenmakers J. G. G. Nucleotide sequence of the rat γ-crystallin gene region and comparison with an orthologous human region. Gene. 78:1989;201-213.
4. Everett C. A., Glenister P. H., Taylor D. M., Lyon M. F., Kratochvilova-Loester J., Favor J. Mapping of six dominant cataract genes in the mouse. Genomics. 20:1994;429-434.
5. Favor J. A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat. Res. 110:1983;367-382.
6. Favor J. Characterization of dominant cataract mutations in mice: Penetrance, fertility and homozygous viability of mutations recovered after 250 mg/kg ethylnitrosourea paternal treatment. Genet. Res. Cambridge. 44:1984;183-197.
7. Favor J. Genetic effects from exposure to hazardous agents. Environ. Health Perspect. 101:1993;263-267.
8. Favor J., Neuhäuser-Klaus A., Ehling U. H., Wulff A., van Zeeland A. A. The effect of the interval between dose applications on the observed specific-locus mutation rate in the mouse following fractionated treatments of spermatogonia with ethylnitrosourea. Mutat. Res. 374:1997;193-199.
9. Goring D. R., Breitman M. L., Tsui L.-C. Temporal regulation of six crystallin transcripts during mouse lens development. Exp. Eye Res. 54:1992;785-795.
10. Graw J. Cataract mutations as a tool for developmental geneticists. Ophthalmol. Res. 28:1996a;8-18.
11. Graw J. Genetic aspects of embryonic eye development in vertebrates. Dev. Genet. 18:1996b;181-197.
12. Graw J. The crystallins: Genes, proteins and diseases. Biol. Chem. 378:1997;1331-1348.
13. ta radiation-induced dominant cataract mutation in mice. Invest. Ophthalmol. Visual Sci. 31:1990a;1353-1361.
14. Graw J., Coban L., Liebstein A., Werner T. Murine γE-crystallin is distinct from murine γ2-crystallin. Gene. 104:1991;265-270.
15. Graw J., Favor J., Neuhäuser-Klaus A., Ehling U. H. Dominant cataract and recessive specific locus mutations in offspring of X-irradiated male mice. Mutat. Res. 159:1986;47-54.
16. Graw J., Kratochvilova J., Summer K.-H. Genetical and biochemical studies of a dominant cataract mutant in mice. Exp. Eye Res. 39:1984;37-45.
17. Graw J., Liebstein A. DNase activity in murine lenses: Implications for cataractogenesis. Graefe's Arch. Clin. Exp. Ophthalmol. 231:1993;354-358.
18. Graw J., Liebstein A., Pietrowski D., Schmitt-John T., Werner T. Genomic sequences of murine γB- and γC-crystallin-encoding genes: Promoter analysis and complete evolutionary pattern of mouse, rat and human γ-crystallins. Gene. 136:1993;145-156.
19. Graw J., Summer K.-H., Michel C., Bors W. Catalase and superoxide dismutase activities in lenses of cataractousNOP. Exp. Eye Res. 41:1985;577-579.
20. Graw J., Werner T., Merkle S., Reitmeir P., Schäffer E., Wulff A. Nop. Exp. Eye Res. 50:1990b;449-456.
21. Kratochvilova J., Favor J. Allelism test of 15 dominant cataract mutations in mice. Genet. Res. Cambridge. 59:1992;199-203.
22. Löster J., Pretsch W., Sandulache R., Schmitt-John T., Lyon M. F., Graw J. Close linkage of the dominant cataract mutations (Cat-2Idh-1Cryge. Genomics. 23:1994;240-242.
23. Lubsen N. H., Aarts H. J. M., Schoenmakers J. G. G. The evolution of lenticular proteins: the β- and γ-crystallin super gene family. Prog. Biophys. Mol. Biol. 51:1988;47-76.
24. Moormann R. J. M., den Dunnen J. T., Mulleners L., Andreoli P., Bloemendal H., Schoenmakers J. G. G. Strict co-linearity of genetic and protein folding domains in an intragenically duplicated rat lens γ-crystallin gene. J. Mol. Biol. 171:1983;353-368.
25. cc. Exp. Eye Res. 65:1997;609-630.
26. Oda S.-I., Watanabe K., Fujisawa H., Kameyama Y. Impaired development of lens fibers in genetic microphthalmia, eye lens obsolescence,Elo, Exp. Eye Res. 31:1980;673-681.
27. Sankaranarayanan K. Ionizing radiation and genetic risks. II. Nature of radiation-induced mutations in experimental mammalianin vivo. Mutat. Res. 258:1991;51-73.
28. nopmutant lenses. Graefe's Arch. Clin. Exp. Ophthalmol. 233:1995;795-800.
29. Shinohara T., Robinson E. A., Appella E., Piatigorsky J. Multiple γ-crystallins of the mouse lens: Fractionation of mRNAs by cDNA cloning. Proc. Natl. Acad. Sci. USA. 79:1982;2783-2787.
30. Vrensen G. F. J. M., Graw J., de Wolf A. Nuclear breakdown during terminal differentiation of primary lens fibres in mice: A transmission electron microscopic study. Exp. Eye Res. 52:1991;647-659.
31. Yoshiki A., Hanazono M., Oda S.-I., Wakasugi N., Sakakura T., Kusakabe M. Developmental analysis of the eye lens obsolescence (EloElo. Development. 113:1991;1293-1304.