Recombinational and physical mapping of the locus for primary open- angle glaucoma (GLC1A) on chromosome 1q23-q25

Genomics

Volumn 39, Issue 3, 1997, Pages 348-358

  Belmouden, Ahmed ^a   Adam, Marie F ^a   Dupont De Dinechin, Stéphane ^a   Brézin, Antoine P ^a   Rigault, Philippe ^b   Chumakov, Ilya ^b   Bach, Jean François ^a   Garchon, Henri Jean ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b FONDATION JEAN DAUSSET CEPH   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL;

ARTICLE; BLINDNESS; CHROMOSOME 1Q; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; HUMAN; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL;

EID: 0031081371     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4491     Document Type: Article

References (60)

1. Anand, R., Riley, J. H., Butler, R., Smith, J. C., and Markham, A. F. (1990). A 3.5 genome equivalent multi access YAC library: Construction, characterisation, screening and storage. Nucleic Acids Res. 18: 1951-1956.
2. Bellanné-Chantelot, C., Lacroix, B., Ougen, P., Billault, A., Beaufils, S., Gesnouin, P., Pook, S., Vaysseix, G., Lu-Kuo, J., Ried, T., Ward, D., Chumakov, I., Le Paslier, D., Barillot, E., and Cohen, D. (1992). Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell 70: 1059-1068.
3. Blachly-Dyson, E., Baldini, A., Litt, M., McCabe, E. R., and Forte, M. (1994). Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: Mapping and identification of two new isoforms. Genomics 20: 62-67.
4. Chumakov, I., Rigault, P., Guillou, S., Ougen, P., Billaut, A., Guasconi, G., Gervy, P., Le Gall, I., Soularue, P., Grinas, L., Bougueleret, L., Bellanné-Chantelot, C., Lacroix, B., Barillot, E., Gesnouin, P., Pook, S., Vaysseix, G., Frelat, G., Schmitz, A., Sambucy, J. L., Bosch, A., Estivill, X., Weissenbach, J., Vignal, A., Riethman, H., Cox, D., Patterson, D., Gardiner, K., Hattori, M., Sakaki, Y., Ishikawa, H., Ohki, M., Le Paslier, D., Heilig, R., Antonarakis, S., and Cohen, D. (1992). Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359: 380-387.
5. Craig, J. M., and Bickmore, W. A. (1994). The distribution of CpG islands in mammalian chromosomes. Nature Genet. 7: 376-382.
6. Dib, C., Faure, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., and Weissenbach, J. (1996). A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152-154.
7. Ding, C., Li, X., Griffin, C. A., Jabs, E. W., Hawkins, A. L., and Levine, M. A. (1993). The gene for human phosducin (PDC), a soluble protein that binds G-protein beta gamma dimers, maps to 1q25-q31.1. Genomics 18: 457-459.
8. Feinberg, A. P., and Vogelstein, B. (1983). A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132: 6-13.
9. François, J. (1966). Genetics and primary open-angle glaucoma. Am. J. Ophthalmol. 61: 652-665.
10. Hudson, T. J., Stein, L. D., Gerety, S. S., Ma, J. L., Castle, A. B., Silva, J., Slonim, D. K., Baptista, R., Kruglyak, L., Xu, S. H., Hu, X. T., Colbert, A. M. E., Rosenberg, C., Reevedaly, M. P., Rozen, S., Hui, L., Wu, X. Y., Vestergaard, C., Wilson, K. M., Bae, J. S., Maitra, S., Ganiatsas, S., Evans, C. A., Deangelis, M. M., Ingalls, K. A., Nahf, R. W., Horton, L. T., Anderson, M. O., Collymore, A. J., Ye, W. J., Kouyoumjian, V., Zemsteva, I. S., Tam, J., Devine, R., Courtney, D. F., Renaud, M. T., Nguyen, H., Oconnor, T. J., Fizames, C., Faure, S., Gyapay, G., Dib, C., Morissette, J., Orlin, J. B., Birren, B. W., Goodman, N., Weissenbach, J., Hawkins, T. L., Foote, S., Page, D. C., and Lander, E. S. (1995). An STS-based map of the human genome. Science 270: 1945-1954.
11. ISCN (1981). An international system for human cytogenetic nomenclature - High resolution banding. Cytogenet. Cell Genet. 31: 1-32.
12. Johnson, A. T., Drack, A. V., Kwitek, A. E., Cannon, R. L., Stone, E. M., and Alward, W. L. M. (1993). Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 100: 524-529.
13. Johnson, A. T., Richards, J. E., Boehnke, M., Stringham, H. M., Herman, S. B., Wong, D. J., and Lichter, P. R. (1996). Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. Ophthalmology 103: 808-814.
14. Johnston, G. I., Cook, R. G., and McEver, R. P. (1989). Cloning of GMP-140, a granule membrane protein of platelets and endothelium: Sequence similarity to proteins involved in cell adhesion and inflammation. Cell 56: 1033-1044.
15. Kass, M. A., Gordon, M. O., Hoff, M. R., Parkinson, J. M., Kolker, A. E., Hart, W. M., and Becker, B. (1989). Topical Timolol administration reduces the incidence of glaucomatous damage in ocular hypertensive individuals. A randomized, double-masked, long-term clinical trial. Arch. Ophthalmol. 107: 1590-1598.
16. Kaufman, P. L., and Mittag, T. W. (Eds.) (1994). "Glaucoma," Mosby, London.
17. Kere, J., Nagaraja, R., Mumm, S., Ciccodicola, A., D'Urso, M., and Schlessinger, D. (1992). Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 14: 241-248.
18. Korenberg, J. R., and Rykowski, M. C. (1988). Human genome organization: Alu, lines, and the molecular structure of metaphase chromosome bands. Cell 53: 391-400.
19. Kruh, G. D., King, C. R., Kraus, M. H., Popescu, N. C., Amsbaugh, S. C., McBride, W. O., and Aaronson, S. A. (1986). A novel human gene closely related to the abl proto-oncogene. Science 234: 1545-1548.
20. Kruh, G. D., Perego, R., Miki, T., and Aaronson, S.A. (1990). The complete coding sequence of arg defines the Abelson subfamily of cytoplasmic tyrosine kinases. Proc. Natl. Acad. Sci. USA 87: 5802-5806.
21. Lane, L. K., Shull, M. M., Whitmer, K. R., and Lingrel, J. B. (1989). Characterization of two genes for the human Na,K-ATPase beta subunit. Genomics 5: 445-453.
22. Larin, Z., Monaco, A. P., and Lehrach, H. (1991). Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl. Acad. Sci. USA 88: 4123-4127.
23. Larsen, F., Gundersen, G., Lopez, R., and Prydz, H. (1992). CpG islands as gene markers in the human genome. Genomics 13: 1095-1107.
24. Leske, M. C. (1983). The epidemiology of open-angle glaucoma: A review. Am. J. Epidemiol. 118: 166-191.
25. Liebhaber, S. A., Emery, J. G., Urbanek, M., Wang, X. K., and Cooke, N. E. (1990). Characterization of a human cDNA encoding a widely expressed and highly conserved cysteine-rich protein with an unusual zinc-finger motif. Nucleic Acids Res. 18: 3871-3879.
26. Lim, L. C., and Gill, M. (1993). A complex dinucleotide repeat polymorphism in the human Na+K+ATPase alpha subunit (ATP1A2) gene. Hum. Mol. Genet. 2: 616.
27. Lindsay, S., and Bird, A. P. (1987). Use of restriction enzymes to detect potential gene sequences in mammalian DNA. Nature 327: 336-338.
28. Marchuk, D., Drumm, M., Saulino, A., and Collins, F. S. (1991). Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucleic Acids Res. 19: 1154.
29. Meyer, A., Valtot, F., Béchetoille, A., Rouland, J. F., Dascotte, J. C., Férec, C., Bach, J. F., Chaventré, A., and Garchon, H. J. (1994). Linkage between juvenile glaucoma and chromosome 1q in two French families. C. R. Acad. Sci. Paris 317: 565-570.
30. Meyer, A., Bechetoille, A., Valtot, F., Dupont de Dinechin, S., Adam, M. F., Belmouden, A., Brezin, A. P., Gomez, L., Bach, J. F., and Garchon, H. J. (1996). Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a french family. Hum. Genet. 98: 567-571.
31. Miranda, C., Minoletti, F., Greco, A., Sozzi, G., and Pierotti, M. A. (1994). Refined localization of the human TPR gene to chromosome 1q25 by in situ hybridization. Genomics 23: 714-715.
32. Mitchell, P. J., and Cooper, C. S. (1992). The human tpr gene encodes a protein of 2094 amino acids that has extensive coiled-coil regions and an acidic C-terminal domain. Oncogene 7: 2329-2333.
33. Morissette, J., Coté, G., Anctil, J. L., Plante, M., Amyot, M., Héon, E., Trope, G. E., Weissenbach, J., and Raymond, V. (1995). A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am. J. Hum. Genet. 56: 1431-1442.
34. Munroe, D. J., Haas, M., Bric, E., Whitton, T., Aburatani, H., Hunter, K., Ward, D., and Housman, D. E. (1994). IRE-Bubble PCR - A rapid method for efficient and representative amplification of human genomic DNA sequences from complex sources. Genomics 19: 506-514.
35. Oakey, R. J., Watson, M. L., and Seldin, M. F. (1992). Construction of a physical map on mouse and human chromosome 1: Comparison of 13 Mb of mouse and 11 Mb of human DNA. Hum. Mol. Genet. 1: 613-620.
36. Olson, S., Wang, M. G., Carafoli, E., Strehler, E. E., and McBride, O. W. (1991). Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. Genomics 9: 629-641.
37. Perry, D. J. (1993). Trinucleotide repeat polymorphism in the human antithrombin III (AT3) gene. Hum. Mol. Genet. 2: 618.
38. Pilia, G., Little, R. D., Aissani, B., Bernardi, G., and Schlessinger, D. (1993). Isochores and CpG islands in YAC contigs in human Xq26.1-qter. Genomics 17: 456-462.
39. Quigley, H. A. (1993). Medical progress - Open-angle glaucoma. N. Engl. J. Med. 328: 1097-1106.
40. Richards, J. E., Lichter, P. R., Boehnke, M., Uro, J. L. A., Torrez, D., Wong, D., and Johnson, A. T. (1994). Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome-Iq. Am. J. Hum. Genet. 54: 62-70.
41. Riggins, G. J., Lokey, L. K., Chastain, J. L., Leiner, H. A., Sherman, S. L., Wilkinson, K. D., and Warren, S. T. (1992). Human genes containing polymorphic trinucleotide repeats. Nature Genet. 2: 186-191.
42. Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989). "Molecular Cloning: A Laboratory Manual," 2nd ed., Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
43. Seldin, M. F. (1994). Mouse chromosome 1. Mamm. Genome 5: S1-S21.
44. Sheffield, V. C., Stone, E. M., Alward, W. L. M., Drack, A. V., Johnson, A. T., Streb, L. M., and Nichols, B. E. (1993). Genetic linkage of familial open angle glaucoma to chromosome-1q21-q31. Nature Genet. 4: 47-50.
45. Sparkes, R. S., Lee, R. H., Shinohara, T., Craft, C. M., Kojis, T., Klisak, I., Heinzmann, C., and Bateman, J. B. (1993). Assignment of the phosducin (PDC) gene to human chromosome 1q25-1q32.1 by somatic cell hybridization and in situ hybridization. Genomics 18: 426-428.
46. Squire, J., Zhou, A., Kassel, B. A., Nie, H., and Silverman, R. H. (1994). Localization of the interferon-induced, 2-5A-dependent RNase gene (RNS4) to human chromosome 1q25. Genomics 19: 174-175.
47. Stjernschantz, J. (1995). Prostaglandins as ocular hypotensive agents; development of an analogue for glaucoma treatment. Adv. Prostaglandin Thromboxane Leukot. Res. 23: 63-68.
48. Strehler, E. E., James, P., Fischer, R., Heim, R., Vorherr, T., Filoteo, A. G., Penniston, J. T., and Carafoli, E. (1990). Peptide sequence analysis and molecular cloning reveal two calcium pump isoforms in the human erythrocyte membrane. J. Biol. Chem. 265: 2835-2842.
49. Sturm, R. A. (1991). An STS in the human OCT-1 gene located on chromosome 1. Nucleic Acids Res. 19: 6963.
50. Sturm, R. A., Cassady, J. L., Das, G., Romo, A., and Evans, G. A. (1993). Chromosomal structure and expression of the human OTF1 locus encoding the Oct-1 protein. Genomics 16: 333-341.
51. Sturm, R. A., Eyre, H. J., Baker, E., and Sutherland, G. R. (1995). The human OTF1 locus which overlaps the CD3Z gene is located at 1q22-q23. Cytogenet. Cell Genet. 68: 231-232.
52. Tay, A., Simon, J. S., Squire, J., Hamel, K., Jacob, H. J., and Skorecki, K. (1995). Cytosolic phospholipase A2 gene in human and rat: Chromosomal localization and polymorphic markers. Genomics 26: 138-141.
53. Tay, A., Squire, J. A., Goldberg, H., and Skorecki, K. (1994). Assignment of the human prostaglandin-endoperoxide synthase 2 (PTGS2) gene to 1q25 by fluorescence in situ hybridization. Genomics 23: 718-719.
54. Vailly, J., Verrando, P., Champliaud, M. F., Gerecke, D., Wagman, D. W., Baudoin, C., Aberdam, D., Burgeson, R., Bauer, E., and Ortonne, J. P. (1994). The 100-kDa chain of nicein/kalinin is a laminin B2 chain variant. Eur. J. Biochem. 219: 209-218.
55. Wang, X., Ray, K., Szpirer, J., Levan, G., Liebhaber, S. A., and Cooke, N. E. (1992). Analysis of the human cysteine-rich protein gene (CSRP), assignment to chromosome 1q24-1q32, and identification of an associated MspI polymorphism. Genomics 14: 391-397.
56. Waye, J. S., Eng, B., Ni, H. Y., Blajchman, M. A., and Carmody, G. (1994). Trinucleotide repeat polymorphism within the human antithrombin gene (AT3): Allele frequency data for three population groups. Mol. Cell. Probes 8: 149-154.
57. Whittaker, P. A., Mathrubutham, M., and Wood, L. (1993). Construction of phage sublibraries from nanogram quantities of YAC DNA purified by preparative PFGE. Trends Genet. 9: 195-196.
58. Yang-Feng, T. L., Schneider, J. W., Lindgren, V., Shull, M. M., Benz, E. J., Jr., Lingrel, J. B., and Francke, U. (1988). Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics 2: 128-138.
59. Yow, H. K., Wong, J. M., Chen, H. S., Lee, C. G., Davis, S., Steele Gd, J. R., and Chen, L. B. (1988). Increased mRNA expression of a laminin-binding protein in human colon carcinoma: Complete sequence of a full-length cDNA encoding the protein. Proc. Natl. Acad. Sci. USA 85: 6394-6398.
60. Zhou, A., Hassel, B. A., and Silverman, R. H. (1993). Expression cloning of 2-5A-dependent RNAase: A uniquely regulated mediator of interferon action. Cell 72: 753-765.