A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration

Genomics

Volumn 59, Issue 2, 1999, Pages 134-142

  Acland, Gregory M ^a   Ray, Kunal ^b   Mellersh, Cathryn S ^c   Langston, Amelia A ^c   Rine, Jasper ^d   Ostrander, Elaine A ^c   Aguirre, Gustavo D ^a  

^a Department of Obstetrics Gynecology   (United States)

^b INDIAN INSTITUTE OF CHEMICAL BIOLOGY   (India)

^c Fred Hutchinson Cancer Research Center   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP PHOSPHODIESTERASE; OPSIN; PERIPHERIN;

ANIMAL CELL; ARTICLE; CHROMOSOME IDENTIFICATION; DOG; ELECTRORETINOGRAPHY; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; HYBRID CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; RETINA DEGENERATION; SEQUENCE HOMOLOGY;

ANIMALIA; CANIS FAMILIARIS; MAMMALIA;

EID: 0033566087     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5842     Document Type: Article

References (66)

1. Acland G. M., Aguirre G. D. Retinal degenerations in the dog. IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res. 44:1987;491-521.
2. Acland G., Fletcher R., Gentleman S., Chader G., Aguirre G. Nonallelism of 3 genes (rcd1, rcd2 and erd) for early onset hereditary retinal degeneration. Exp Eye Res. 49:1989;983-998.
3. Acland G. M., Ray K., Mellersh C. S., Gu W., Langston A. A., Rine J., Ostrander E. A., Aguirre G. D. Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. Proc. Natl. Acad. Sci. USA. 956:1998;3048-3053.
4. Aguirre G. D. Rod and Cone Contributions to the Canine Electroretinogram. 1975;University of Pennsylvania, Philadelphia.
5. Aguirre G. D. Inherited retinal degenerations in the dog. Trans. Am. Acad. Ophthalmol. Otol. 81:1976;667-676.
6. Aguirre G., Acland G., Chader G. Hereditary retinal degenerations in the dog: Specificity of abnormal cyclic nucleotide metabolism to diseases of arrested photoreceptor development. Birth Defects. 18:1982;119-134.
7. Akhmedov N. B., Piriev N. I., Ray K., Acland G. M., Aguirre G. D., Farber D. B. Structure and analysis of the transducin beta3-subunit gene, a candidate for inherited cone degeneration (cd) in the dog. Gene. 194:1997;47-56.
8. Andrews P. W., Knowles B. B., Goodfellow P. N. A human cell-surface antigen defined by a monoclonal antibody and controlled by a gene on chromosome 12. Somatic Cell Genet. 7:1981;435-443.
9. Barendse W., Armitage S. M., Womack J. E., Hetzel J. Linkage relations between A2M, HOX3, INT1, KRAS2, and PAH on bovine chromosome 5. Genomics. 14:1992;38-42.
10. Barrow L. L., Simin K., Mohlke K., Nichols W. C., Ginsburg D., Meisler M. H. Conserved linkage of neurotrophin-3 and von Willebrand factor on mouse chromosome 6. Mamm. Genome. 4:1993;343-345.
11. Bowes C., Li T., Danciger M., Baxter L. C., Applebury M. L., Farber D. B. Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase. Nature. 347:1990;677-680.
12. Bowes C., Li T., Frankel W. N., Danciger M., Coffin J. M., Applebury M. L., Farber D. B. Localization of a retroviral element within the rd gene coding for the β subunit of cGMP phosphodiesterase. Proc. Natl. Acad. Sci. USA. 90:1993;2955-2959.
13. Caffe A. R., Soderpalm A., van Veen T. Photoreceptor-specific protein expression of mouse retina in organ culture and retardation of rd degeneration in vitro by a combination of basic fibroblast and nerve growth factors. Curr. Eye Res. 12:1993;719-726.
14. Cayouette M., Behn D., Sendtner M., Lachapelle P., Gravel C. Intraocular gene transfer of ciliary neurotrophic factor prevents death and increases responsiveness of rod photoreceptors in the retinal degeneration slow mouse. J. Neurosci. 18:1998;9282-9293.
15. Clements P. J. M., Gregory C. Y., Peterson-Jones S. M., Sargan D. R., Bhattacharya S. S. Confirmation of the rod cGMP phosphodiesterase β subunit (PDEB) nonsense mutation in affected rcd-1 Irish setters in the UK and development of a diagnostic test. Curr. Eye Res. 12:1993;861-866.
16. Cottingham R. W. Jr., Idury R. M., Schaffer A. A. Faster sequential linkage computations. Am. J. Hum. Genet. 53:1993;252-263.
17. Danciger M., Chakraborti A., Farber D. B., Kozak C. A. Localization of the gene for a third G protein beta-subunit to mouse chromosome 6 near Raf-1. Genomics. 12:1992;688-692.
18. Davies M. S., West L. F., Davis M. B., Povey S., Craig R. K. The gene for human alpha-lactalbumin is assigned to chromosome 12q13. Ann. Hum. Genet. 51:1987;183-188.
19. Deloukas P., Schuler G. D., Gyapay G., Beasley E. M., Soderlund C., Rodriguez-Tome P., Hui L., Matise T. C., McKusick K. B., Beckmann J. S., Bentolila S., Bihoreau M., Birren B. B., Browne J., Butler A., Castle A. B., Chiannilkulchai N., Clee C., Day P. J., Dehejia A., Dibling T., Drouot N., Duprat S., Fizames C., Bentley D. R. A physical map of 30,000 human genes. Science. 282:1998;744-746.
20. Faktorovich E. G., Steinberg R. H., Yasumura D., Matthes M. T., LaVail M. M. Basic fibroblast growth factor and local injury protect photoreceptors from light damage in the rat. J. Neurosci. 12:1992;3554-3567.
21. Farber D. B., Danciger J. S., Aguirre G. The β subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1. Neuron. 9:1992;349-356.
22. Francisco L. V., Langston A. A., Mellersh C. S., Neal C. L., Ostrander E. A. A class of highly polymorphic tetranucleotide repeats for canine genetic mapping. Mamm. Genome. 7:1996;359-362.
23. George D. L., de Martinville B., Francke U. Amplified DNA sequences, including a c-Ki-ras oncogene, present in Y1 mouse adrenal tumor cells originate from mouse chromosome 6. Cytogenet. Cell Genet. 37:1984;477-488.
24. Ginsburg D., Handin R. I., Bonthron D. T., Donlon T. A., Bruns G. A. P., Latt S. A., Orkin S. H. Human von Willebrand factor (VWF): Isolation of complementary DNA (cDNA) clones and chromosomal localization. Science. 228:1985;1401-1406.
25. Hayes H. C., Popescu P., Dutrillaux B. Comparative gene mapping of lactoperoxidase, retinoblastoma, and alpha-lactalbumin genes in cattle, sheep, and goats. Mamm. Genome. 4:1993;593-597.
26. Howard T. D., Akots G., Bowden D. W. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): Reassignment to human chromosome 12q. Genomics. 34:1996;122-127.
27. Isobe M., Huebner K., Maddon P. J., Littman D. R., Axel R., Croce C. M. The gene encoding the T-cell surface protein T4 is located on human chromosome 12. Proc. Natl. Acad. Sci. USA. 83:1986;4399-4402.
28. Lambiase A., Aloe L. Nerve growth factor delays retinal degeneration in C3H mice. Graefes Arch. Clin. Exp. Ophthalmol. 234:1996;S96-100.
29. Langston A. A., Mellersh C. S., Neal C. L., Ray K., Acland G. M., Gibbs M., Aguirre G. D., Fournier R. E. K., Ostrander E. A. Construction of a panel of canine-rodent hybrid cell lines for use in partitioning of the canine genome. Genomics. 46:1997;317-325.
30. Lathrop G. M., Lalouel J. M. Easy calculations of LOD scores and genetic risks on small computers. Am. J. Hum. Genet. 36:1984;460-465.
31. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus analysis in humans. Proc. Natl. Acad. Sci. USA. 81:1984;3443-3446.
32. Lathrop G. M., Lalouel J. M., White R. L. Construction of human linkage maps: Likelihood calculations for multilocus analysis. Genet. Epidemiol. 3:1986;39-52.
33. LaVail M. M., Unoki K., Yasumura D., Matthes M. T., Yancopoulos G. D., Steinberg R. H. Multiple growth factors, cytokines, and neurotrophins rescue photoreceptors from the damaging effects of constant light. Proc. Natl. Acad. Sci. USA. 89:1992;11249-11253.
34. Levine M. A., Modi W. S., O'Brien S. J. Chromosomal localization of the genes encoding two forms of the G-protein β polypeptide, β-1 and β-3, in man. Genomics. 8:1990;380-386.
35. Lingaas F., Sorensen A., Juneja R. K., Johansson S., Fredholm M., Wintero A. K., Sampson J., Mellersh C., Curzon A., Holmes N. G., Binns M. M., Dickens H. F., Ryder E. J., Gerlach J., Baumle E., Dolf G. Towards construction of a canine linkage map: Establishment of 16 linkage groups. Mamm. Genome. 8:1997;218-221.
36. Lingaas F., Aarskaug T., Sletten M., Bjerkas I., Grimholt U., Moe L., Juneja R. K., Wilton A. N., Galibert F., Holmes N. G., Dolf G. Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. Anim. Genet. 29:1998;371-376.
37. Luthert P. J., Chong N. H. Photoreceptor rescue. Eye. 112:1998;591-596.
38. Mangin M., Webb A. C., Dreyer B. E., Posillico J. T., Ikeda K., Weir E. C., Stewart A. F., Bander N. H., Milstone L., Barton D. E., Francke U., Broadus A. E. Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy. Proc. Natl. Acad. Sci. USA. 85:1988;597-601.
39. Matise T. C., Perlin M., Chakravarti A. Automated construction of genetic linkage maps using an expert system (Multimap): A human genome linkage map. Nat. Genet. 6:1994;384-390.
40. McLaughlin M. E., Sandberg M. A., Berson E. L., Dryja T. P. Recessive mutations in the gene encoding the β-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat. Genet. 4:1993;130-134.
41. Mellersh C. S., Langston A. A., Acland G. M., Fleming M. A., Ray K., Weigand N. A., Francisco L. V., Gibbs M., Aguirre G. D., Ostrander E. A. A linkage map of the canine genome. Genomics. 46:1997;326-336.
42. Modi W. S., Levine M. A., Seuanez H., O'Brien S. J. Chromosomal localization of the gene encoding a third form of the beta subunit of GTP-binding regulatory proteins. Cytogenet. Cell Genet. 51:1989;1046.
43. Mosselman S., Hoppener J. W. M., Zandberg J., van Mansfeld A. D. M., Geurts van Kessel A. H. M., Lips C. J. M., Jansz H. S. Islet amyloid polypeptide: Identification and chromosomal localization of the human gene. FEBS Lett. 239:1988;227-232.
44. Neff M. W., Broman K. W., Mellersh C. S., Ray K., Acland G. M., Aguirre G. D., Ziegle J. S., Ostrander E. A., Rine J. A second-generation genetic linkage map of the domestic dog, Canis familiaris. Genetics. 151:1999;803-820.
45. O'Connell P., Leppert M., Hoff M., Kumlin E., Thomas W., Cai G., Law M., White R. A linkage map for human chromosome 12. Am. J. Hum. Genet. 37:1985;A169.
46. Ostrander E. A., Jong P. M., Rine J., Duyk G. Construction of small-insert genomic DNA libraries highly enriched for microsatellite repeat sequences. Proc. Natl. Acad. Sci. USA. 89:1992;3419-3423.
47. Ostrander E. A., Mapa F. A., Yee M., Rine J. One hundred and one simple sequence repeat-based markers for the canine genome. Mamm. Genome. 6:1995;192-195.
48. n markers for genetic mapping in dog. Genomics. 16:1993;207-213.
49. Ott J. Analysis of Human Genetic Linkage. 1991;Johns Hopkins Univ. Press, Baltimore, London.
50. Pittler S. J., Baehr W. Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase β-subunit gene of the rd mouse. Proc. Natl. Acad. Sci. USA. 88:1991;8322-8326.
51. Popescu N. C., Amsbaugh S. C., DiPaolo J. A., Tronick S. R., Aaronson S. A., Swan D. C. Chromosomal localization of three human ras genes by in situ molecular hybridization. Somatic Cell Mol. Genet. 11:1985;149-155.
52. Priat C., Hitte C., Vignaux F., Renier C., Jiang Z., Jouquand S., Cheron A., Andre C., Galibert F. A whole-genome radiation hybrid map of the dog genome. Genomics. 54:1998;361-378.
53. Ray K., Acland G. M., Aguirre G. D. Nonallelism of erd and prcd and exclusion of the canine RDS/peripherin gene as a candidate for both retinal degeneration loci. Invest. Ophthalmol. Visual Sci. 37:1996;783-794.
54. Ray K., Baldwin V. J., Acland G. M., Blanton S. H., Aguirre G. D. Co-segregation of codon 807 mutation of the rod cGMP phosphodiesterase β gene (PDEB) and rcd1. Invest. Ophthalmol. Visual Sci. 35:1994;4291-4299.
55. Ray K., Baldwin V. J., Zeiss C., Acland G. M., Aguirre G. D. Canine rod transducin α-1: Cloning of the cDNA and evaluation of the gene as a candidate for progressive retinal atrophy. Curr. Eye Res. 16:1997;71-77.
56. Sakaguchi A. Y., Lalley P. A., Zabel B. U., Ellis R., Scolnick E., Naylor S. L. Mouse proto-oncogene assignments. Cytogenet. Cell Genet. 37:1984;573-574.
57. Schaffer A. A., Gupta S. K., Shriram K., Cottingham R. W. Jr. Avoiding recomputation in linkage analysis. Hum. Hered. 44:1994;225-237.
58. n repeat in an intron of the canine von Willebrand factor gene. Anim. Genet. 24:1994;122-122.
59. Suber M. L., Pittler S. J., Qin N., Wright G. C., Holcombe V., Lee R. H., Craft C. M., Lolley R. N., Baehr W. B., Hurwitz R. L. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase β-subunit gene. Proc. Natl. Acad. Sci. USA. 90:1993;3968-3972.
60. Szpirer C., Riviere M., Szpirer J., Hanson C., Levan G., Hendy G. N. Assignment of the rat parathyroid hormone-like peptide gene (PTHLH) to chromosome 4: Evidence for conserved synteny between human chromosome 12, mouse chromosome 6, and rat chromosome 4. Cytogenet. Cell Genet. 56:1991;193-195.
61. Terwilliger J. D., Ott J. Handbook of Human Genetic Linkage. 1994;Johns Hopkins Univ. Press, Baltimore.
62. Threadgill D. S., Threadgill D. W., Moll Y. D., Weiss J. A., Zhang N., Davey H. W., Wildeman A. G., Womack J. E. Syntenic assignment of human chromosome 1 homologous loci in the bovine. Genomics. 22:1994;626-630.
63. Threadgill D. W., Adkison L. R., Womack J. E. Syntenic conservation between humans and cattle. II. Human chromosome 12. Genomics. 8:1990;29-34.
64. Unoki K., LaVail M. M. Protection of the rat retina from ischemic injury by brain-derived neurotrophic factor, ciliary neurotrophic factor, and basic fibroblast growth factor. Invest. Ophthalmol. Visual Sci. 35:1994;907-915.
65. Wang W., Acland G. M., Aguirre G. D., Ray K. Exclusion of rhodopsin, and probable exclusion of rds/peripherin, as candidates for canine progressive rod cone degeneration (prcd). Invest. Ophthalmol. Visual Sci. 36:1995;S772.
66. Yuzbasiyan-Gurkan V., Blanton S. H., Cao Y., Ferguson P., Li J., Venta P. J., Brewer G. J. Linkage of a microsatellite marker to the canine copper toxicosis locus in Bedlington terriers. Am. J. Vet. Res. 58:1997;23-27.