Evaluation of ROM1 as a candidate gene in generalised progressive retinal atrophy in dogs

Animal Genetics

Volumn 29, Issue 4, 1998, Pages 316-318

  Klein, W ^a   Dekomien, G ^a   Holmes, N ^b   Epplen, J T ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b ANIMAL HEALTH TRUST   (United Kingdom)

Author keywords

Generalised progressive retinal atrophy; Retinitis pigmentosa; ROM1; Single strand conformation polymorphism analysis

Indexed keywords

BREED; DNA POLYMORPHISM; EXON; GENE MUTATION; GENE SEQUENCING; MUTATIONAL ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANIMALS; ATROPHY; CHROMOSOME MAPPING; DNA; DOG DISEASES; DOGS; EYE PROTEINS; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINA; RETINAL DEGENERATION; SEQUENCE ANALYSIS, DNA;

ANIMALIA; CANIS FAMILIARIS; MAMMALIA; RODENTIA;

EID: 0032143040     PISSN: 02689146     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2052.1998.00337.x     Document Type: Article

References (8)

1. Acland G.M., Blanton S.H., Hershfield B. & Aguirre G.D. (1994) XLPRA A canine retinal degeneration inherited as an X-linked trait. American Journal of Medical Genetics 52, 27-33.
2. Clements P.J.M., Sargan D.R., Gould D.J. & Petersen-Jones S.M. (1996) Recent advances in understanding the spectrum of canine generalised progressive retinal atrophy. Journal of Small Animal Practice 37, 155-62.
3. Goldberg A.F.X. & Molday R.S. (1996) Subunit composition of the peripherin/rds-Rom-1 disk rim complex from rod photoreceptors: hydrodynamide evidence for a terameric quaterny structure. Biochemistry 35, 6144-9.
4. Gould D.J., Petersen-Jones S.M., Lin C.T. & Sargan D.R. (1997) Cloning of canine rom-1 and its investigation as a candidate gene for generalized progressive retinal atrophies in dogs. Animal Genetics 28, 391-6.
5. Kajiwara K., Berson E.L. & Dryja T.P. (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264, 1604-7.
6. Sakuma H., Inana G., Murakami A. et al. (1995) A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa. Genomics 27, 384-6.
7. Suber M.L., Pittler S.J., Qin N. et al. (1993) Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proceedings of the National Academy of Science of the USA 90, 3968-72.
8. Sullivan L.S. & Daiger S.P. (1996) Inherited retinal degeneration exceptional genetic and clinical heterogeneity. Molecular Medicine Today 2, 380-6.