Mutations in the founder of the MIP gene family underlie cataract development in the mouse

Nature Genetics

Volumn 12, Issue 2, 1996, Pages 212-215

  Shiels, Alan ^a   Bassnett, Steven ^b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; CELL MEMBRANE PROTEIN; LENS PROTEIN;

ALLELE; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CATARACTOGENESIS; EMBRYO; GENE DUPLICATION; GENE MUTATION; MOUSE; MULTIGENE FAMILY; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PRIORITY JOURNAL; TRANSPOSON;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORINS; BASE SEQUENCE; CATARACT; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; EYE PROTEINS; FOUNDER EFFECT; GENES, DOMINANT; LENS, CRYSTALLINE; MEMBRANE GLYCOPROTEINS; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MURIDAE; MUTATION; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER;

EID: 0030031158     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0296-212     Document Type: Article

References (31)

1. Reizer, J., Reizer, A. & Saier, M.H. The MIP family of integral membrane channel proteins: sequence comparisons, evolutionary relationships, reconstructed pathway of evolution and proposed functional differentiation of the two repeated halves of the proteins. Crit. Rev. Biochem. Molec. Biol. 28, 235-257 (1993).
2. Chrispeels, M.J. & Agre, P. Aquaporins: water channel proteins of plant and animal cells. Trends. Biochem. Sci. 19, 421-425 (1994).
3. van Lieburg, A.F. et al. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am. J. Hum. Genet. 55, 648-652 (1994).
4. Preston, G.M., Smith, B.L. Zeidel, M.L., Moulds, J.J. & Agre, P. Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels. Science 265, 1585-1587 (1994).
5. Rao, Y., Yan, L.Y. & Jan, V.M. Similarity of the product of the Drosophila neurogenic gene big brain to transmembrane channel proteins. Nature 345, 163-167 (1990).
6. Fraser, F.C. & Schabtach, G. 'Shrivelled': a hereditary degeneration of the lens in the house mouse. Genet. Res. 3, 383-387 (1962).
7. Fr) mouse congenital cataract. Genet. Res. 49, 235-238 (1987).
8. Lyon, M.F., Jarvis, S.E., Sayers, I. & Holmes, R.S. Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse. Genet. Res. 38, 337-341 (1981).
9. Muggleton-Harris, A.L. & Higbee, N. An in vivo and in vitro study of the embryonic and adult Lop mutant congenital cataractous lens. Exp. Eye Res. 44, 805-815 (1987).
10. Yancey, S.B., Koh, K., Chung, J. & Revel, J-P. Expression of the gene for main intrinsic polypeptide (MIP): separate spatial distributions of MIP and γ-crystallin gene transcripts in rat lens development. J. Cell Biol. 106, 705-714 (1988).
11. Griffin, C.S. & Shiels, A. Localisation of the gene for the major intrinsic protein of eye-lens fibre cell membranes to mouse chromosome 10 by in situ hybridisation. Cytogenet. Cell Genet. 59, 300-302 (1992).
12. Breen, M. et al. Towards high resolution maps of the mouse and human genomes - a facility for ordering markers to 0.1 cM resolution. Hum. Mol. Genet. 3, 621-627 (1994).
13. Shiels, A. & Griffin, C.S. Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse. Curr. Eye Res. 12, 913-921 (1993).
14. Pisano, M.M. & Chepelinsky, A.B. Genomic cloning, complete nucleotide sequence and structure of the human gene encoding the major intrinsic protein (MIP) of the lens. Genomics 11, 981-990 (1991).
15. Kaghad, M., Maillet, L. & Brulet, P. Retroviral characteristics of the long terminal repeat of murine E. Tn sequences. EMBO J. 4, 2911-2915 (1986).
16. Shiels, A., Griffin, C.S. & Muggleton-Harris, A.L. Restriction fragment length polymorphisms associated with the gene for the major intrinsic protein of eye-lens fibre cell membranes in mice with hereditary cataracts. Biochim. Biophys. Acta. 1097, 81-85 (1991).
17. Shiels, A., Griffin, C.S. & Muggleton-Harris A.L. Immunochemical comparison of the major intrinsic protein of eye-lens fibre cell membranes in mice with hereditary cataracts. Biochim. Biophys. Acta. 1097, 318-324 (1991).
18. Vaux, D., Tooze, J. & Fuller, S. Identification by anti-idiotype antibodies of an intracellular membrane protein that recognises a mammalian endoplasmic reticulum retention signal. Nature 345, 495-502 (1990).
19. Mulders, S.M. et al. Water channel properties of major intrinsic protein (MIP) of lens. J. Biol. Chem. 270, 9010-9016 (1995).
20. Kushmerick, C., Rice, S.J., Baldo, G.J., Haspel, H.C. & Mathias, R.T. Ion, water and neutral solute transport in Xenopus oocytes expressing frog lens MIP. Exp. Eye Res. 61, 351-362 (1995).
21. Zampighi, G.A., Simon, S.A. & Hall, J.E. The specialised junctions of the lens. Int. Rev. Cytol. 136, 185-225 (1992).
22. Michea, L.F., Andrinolo D, Ceppi, H. & Lagos, N. Biochemical evidence for adhesion-promoting role of major intrinsic protein isolated from both normal and cataractous human lenses. Exp. Eye Res. 61, 293-301.
23. Brakenhoff, R.H., Henskens, H.A.M., van Rossum, M.W.P.C., Lubsen, N.H. & Schoenmakers, J. G. G. Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum. Mol. Genet. 3, 279-283 (1994).
24. Chambers, C. & Russell, P. Deletion mutation in an eye lens β-crystallin. J. Biol. Chem. 266, 6742-6746 (1991).
25. Cartier, M., Breitman, M.L. & Tsui, L-C. A frameshift mutation in the γE-crystallin gene of the Elo mouse. Nature Genet. 2, 42-45 (1992).
26. Rodriguez, I.R., Gonzalez, P., Zigler, J.S. & Borras, T. A guinea-pig hereditary cataract contains a splice-site deletion in a crystallin gene. Biochim. Biophys. Acta. 1180, 44-52 (1992).
27. Muggleton-Harris, A.L., Hardy, K. & Higbee, N. Rescue of lens developmental abnormalities in chimeras of non-cataractous and congenital cataractous mice. Development 99, 473-480 (1987).
28. Kent, N.A. & Shiels, A. Nucleotide and derived amino acid sequence of the major intrinsic protein of rat eye lens. Nucl. Acids Res. 18, 4256 (1990).
29. Bassnett, S. The fate of the golgi apparatus and the endoplasmic reticulum during lens fiber cell differentiation. Invest. Ophthalmol. Vis. Sci. 36, 1793-1803 (1995).
30. Griffin, C. S. & Shiels, A. In situ hybridisation localises the gene for the major intrinsic protein of eye lens fibre cell membranes to human chromosome 12q14. Cytogenet. Cell Genet. 61, 8-9 (1992).
31. Saito, F. et al. Human AQP2 and MIP genes, two members of the MIP family, map within chromosome band 12q13 on the basis of two color FISH. Cytogenet. Cell Genet. 68, 45-48 (1995).