Identification of a gene that causes primary open angle glaucoma

Science

Volumn 275, Issue 5300, 1997, Pages 668-670

  Stone, Edwin M ^a   Fingert, John H ^a   Alward, Wallace L M ^a   Nguyen, Thai D ^b   Polansky, Jon R ^b   Sunden, Sara L F ^a   Nishimura, Darryl ^a   Clark, Abbot F ^c   Nystuen, Arne ^a   Nichols, Brian E ^a   Mackey, David A ^d,e   Ritch, Robert ^f   Kalenak, Jeffrey W ^g   Craven, E Randy ^h   Sheffield, Val C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c ALCON RESEARCH LTD   (United States)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY OF TASMANIA   (Australia)

^f NEW YORK EYE AND EAR INFIRMARY   (United States)

^g MEDICAL COLLEGE OF WISCONSIN   (United States)

^h UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLINDNESS; CHROMOSOME 1Q; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; INTRAOCULAR PRESSURE; MOLECULAR INTERACTION; OPEN ANGLE GLAUCOMA; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; TRABECULAR MESHWORK;

BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 1; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE TAGGED SITES; TRABECULAR MESHWORK;

EID: 14444283397     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.275.5300.668     Document Type: Article

References (30)

1. R. Hiller and H. A. Kahn, Am. J. Ophthalmol. 80, 62 (1975).
2. H. A. Kahn and H. B. Moorhead, U.S. Public Health Serv. Publ. NIH 73-427, (1973), p. 120.
3. J. M. Tielsch et al., Arch. Ophthalmol. 108, 286 (1990).
4. J. M. Tielsch, in Transactions of the New Orleans Academy of Ophthalmology, S. F. Ball and R. M. Franklin, Eds. (Kugler, Amsterdam, 1993), pp. 61-68.
5. A. T. Johnson et al., Ophthalmology 100, 524 (1993).
6. V. C. Sheffield et al., Nature Genet. 4, 47 (1993).
7. J. E. Richards et al., Am. J. Hum. Genet. 54, 62 (1994).
8. J. L. Wiggs et al., Genomics 21, 299 (1994).
9. J. Morissette et al., Am. J. Hum. Genet. 56, 1431 (1995).
10. S. L F. Sunden et al., Genome Res. 6, 862 (1996).
11. V. C. Sheffield and E. M. Stone, unpublished data.
12. H. C. Watkins et al., Hum. Mol. Genet. 2, 1084 (1993).
13. D. G. Lowe et al., Genomics 8, 304 (1990).
14. S. Munro, K. L. Thomas, M. Abu-Shaar, Nature 365, 61 (1993).
15. M. P. Bevilacqua, S. Stengelin, M. A. Gimbrone Jr., B. Seed, Science 243, 1160 (1989).
16. T. F. Tedder et al., J. Exp. Med. 170, 123 (1989).
17. S. Miura et al., Mol. Cell. Biol. 11, 1313 (1991).
18. T. Takahashi et al., Int. Immunol. 6, 1567 (1994).
19. J. R. Polansky et al., Prog. Clin. Biol. Res. 12, 113 (1989).
20. J. Escribano, J. Ortego, M. Coca-Prados, J. Biochem. 118, 921 (1995).
21. T. D. Nguyen, J. R. Polansky, W. Huang, unpublished data; International patent application PCT/ US95/14024 (1996).
22. YAC-STS content analysis was performed by PCR amplification of each STS from DNA prepared from individual YAC clones. PCR products were electrophoresed on 2% agarose gels and stained with ethidium bromide. The presence or absence of amplification was scored and this data used to deduce the minimum tiling path of the chromosome 1q glaucoma interval. Radiation hybrid mapping was performed with the Genebridge 4 radiation hybrid panel available from Research Genetics. DNA from each radiation hybrid clone was amplified in duplicate with STS primers. PCR products were electrophoresed on 2% agarose gels and visualized with ethidium bromide. The gels were scored for the presence of amplified product. Radiation hybrid maps based on this data were constructed with the computer programs RH2PT, RHMAXLIK, and RHMINBRK [K. Lange, M. Boehnke, D. R. Cox, K. L. Lunetta, Genome Res. 5, 136 (1995)].
23. 2); the deoxynucleotides dCTP, dATP, dGTP, and dTTP (300 μM for each); 1 pmol of each primer; and 0.25 units of Taq polymerase (Boehringer Mannheim). Samples were denatured for 5 min at 94°C and incubated for 35 cycles under the following conditions: 94°C for 30 s, 55°C for 30 s, and 72°C for 30 s in a DNA thermocycler (Omnigene). After amplification, 5 μl of stop solution (95% formamide, 10 mM NaOH, 0.05% bromophenol blue, 0.05% xylene cyanol) was added to each sample. Amplification products were denatured for 3 min at 94°C and electrophoresed on 6% polyacrylamide-5% glycerol gels at 25 W for about 3 hours. After electrophoresis, gels were stained with silver nitrate (24).
24. B. J. Bassam, G. Caetano-Anolles, P. M. Gresshoff, Anal. Biochem. 196, 80 (1991).
25. PCR products were sequenced with fluorescent dideoxynucleotides on an Applied Biosystems (ABI) model 373 automated sequencer. All mutations were recognized by the approximately equal peak intensity of two fluorescent dyes at the mutant base. Mutations were confirmed by cloning the PCR product into pT7Blue T vector (Novagen, Madison, WI) and sequencing the cloned product with ABI fluorescent dye primer chemistry. Multiple clones were sequenced to confirm the presence of both mutant and normal clones. All sequencing was performed bidirectionally.
26. J. R. Polansky, in Basic Aspects of Glaucoma Research III, E. Lutjen-Drecoll, Ed. (Schattauer, Stuttgart, New York, 1993), pp. 307-318; T. D. Nguyen et al., in ibid., pp. 331-343.
27. J. R. Polansky, in Basic Aspects of Glaucoma Research III, E. Lutjen-Drecoll, Ed. (Schattauer, Stuttgart, New York, 1993), pp. 307-318; T. D. Nguyen et al., in ibid., pp. 331-343.
28. H. A. Quigley and A. E. Maumenee, Am. J. Ophthalmol. 87, 519 (1979); L. K. Mao, W. C. Stewart, M. B. Shields, ibid. 111, 51 (1991).
29. H. A. Quigley and A. E. Maumenee, Am. J. Ophthalmol. 87, 519 (1979); L. K. Mao, W. C. Stewart, M. B. Shields, ibid. 111, 51 (1991).
30. This paper is dedicated to the memory of Frederick C. Blodi, M.D. (1917-1996). We thank G. Beck, N. Butler, D. Crouch, R. Hockey, T. Love, T. Rohklina, L. Streb, C. Taylor, C. Wiles, and K. Vandenburgh for their technical assistance. Supported in part by the Carver Charitable Trust, NIH grants EY10564, EY08905, EY02477, and EY02162, and an unrestricted grant from Research to Prevent Blindness, New York, NY.