Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

Human Molecular Genetics

Volumn 6, Issue 4, 1997, Pages 597-600

  Kelsell, Rosemary E ^a   Evans, Kevin ^a   Gregory, Cheryl Y ^a   Moore, Anthony T ^b   Bird, Alan C ^a   Hunt, David M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHOROID DISEASE; CHROMOSOME 17P; CLINICAL ARTICLE; FEMALE; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; LEBER CONGENITAL AMAUROSIS; MALE; MARKER GENE; PRIORITY JOURNAL; RETINA CONE; RETINA MALFORMATION; RETINA ROD;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GENOTYPE; GREAT BRITAIN; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; PHENOTYPE; RECOMBINATION, GENETIC; RETINITIS PIGMENTOSA;

EID: 0030894570     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.4.597     Document Type: Article

References (28)

1. Moore, A,T. (1992) Cone and cone-rod dystrophies. J. Med. Genet., 29, 289-290.
2. Nakazawa, M., Kikawa, E., Chida, Y. and Tamai, M. (1994) Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration. Hum. Mol. Genet., 3, 1195-1196.
3. Nakazawa, M., Kikawa, E., Chida, Y., Wada, Y., Shiono, T. and Tamai, M. (1996) Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene. Arch. Ophthalmol., 114, 72-78.
4. Evans, K., Fryer, A., Inglehearn, C., Duvall-Young, J., Whittaker, J.L., Gregory, C.Y., Butler, R., Ebenezer, N., Hunt, D.M. and Bhattacharya, S. (1994) Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. Nature Genet., 6, 210-213.
5. Gregory, C.Y., Evans, K., Whittaker, J.L., Fryer, A., Weissenbach, J. and Bhattacharya, S.S. (1994) Refinement of the cone-rod retinal dystrophy locus on chromosome 19q. Am. J. Hum. Genet., 55, 1061-1063.
6. Hong, H-K, Ferrell, R.E. and Gorin, M.B. (1994) Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1 ). Am. J. Hum. Genet., 55, 1173-1181.
7. Sheffield, V.C., Carmi, R., Kwitek-Black, A., Rokhlina, T., Nishimura, D., Duyk, G.M., Elbedour, K., Sunden, S.L. and Stone, E.M. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum. Mol. Genet., 3, 1331-1335.
8. Leppert, M., Baird, L., Anderson, K.L., Otterud, B., Lupske, J.R. and Lewis, R.A (1994) Bardet-Biedl syndrome is linked to markers on chromosome 11q and is genetically heterogeneous. Nature Genet., 7, 108-112.
9. Carmi, R., Rokhlina, T., Kwitek-Black, A.E., Elbedour, K., Nishimura, D., Stone, E.M. and Sheffield, V.C. (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome-15. Hum. Mol. Genet., 4, 9-13.
10. Kwitek-Black, A.E., Carmi, R., Duyk, G.M., Buetow, K.H., Elbedour, K., Parvari, R., Yandava, C.N., Stone, E.M. and Sheffield, V.C. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet., 5, 392-396.
11. Warburg, M., Sjo, O., Tranebjaerg, L. and Fledelius, H.C. (1991) Deletion mapping of a retinal cone-rod dystrophy:assignment to 18q211. Am. J. Med. Genet., 39, 288-293.
12. Kylstra, J.A. and Aylsworth, A.S. (1993) Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1. Can. J. Ophthalmol., 28, 79-80.
13. 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 5264 microsatellites. Nature 380, 152-154.
14. Camuzat, A., Dollfus, H., Rozet, J-M., Gerber, S., Bonneau, D., Bonnemaison, M., Briard, M-L., Dufier, J-L., Ghazi, I., Loewski, C., Weissenbach, J., Frezal, J., Munnich, A. and Kaplan, J. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p. Hum. Mol. Genet., 4, 1447-1452.
15. Camuzat, A., Rozet, J-M., Dollfus, H., Gerber, S., Perrault, I., Weissenbach, J., Munnich, A. and Kaplan, J. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. Hum. Genet., 97, 798-801.
16. Lotery, A.J., Ennis, K.T., Silvestri, G., Nicholl, S., McGibbon, D., Collins, A.D. and Hughes, A. (1996) Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. Hum. Mol. Genet., 5, 705-708.
17. Balciuniene, J., Johansson, K., Sandgren, O., Wachtmeister, L., Holmgren, G. and Forsman, K. (1995) A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics, 30, 281-286.
18. Small, K.W., Syrquin, M., Mullen, L. and Gehrs, K. (1996) Mapping of autosomal dominant cone degeneration to chromosome 17p. Am. J. Ophthalmol., 121, 13-18.
19. Small, K.W., Weber, J.L., Roses, A., Lennon, F., Vance, J.M. and Pericak-Vance, M.A. (1992) North Carolina macular dystrophy is assigned to chromosome 6. Genomics., 13, 681-685.
20. Kelsell, R.E., Godley, B.F., Evans, K., Tiffin, P.A.C., Gregory, C.Y., Plant, C., Moore, A.T., Bird, A.C. and Hunt, D.M. (1995) Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum. Mol. Genet., 4, 1653-1656.
21. Weichmann, A.F., Akots, G., Hammarback, J.A., Pettenati, M.J., Rao, P.N. and Bowden, D.W. (1994) Genetic and physical mapping of human recoverin: a gene expressed in retinal photoreceptors. Invest. Ophthalmol. Vis. Sci., 35, 325-331.
22. Weichmann, A.F., Haro, K.C. and Bowden, D.W. (1994) Three microsatellite polymorphisms at the recoverin locus on chromosome 17. Hum. Mol. Genet., 3, 1028.
23. Perrault, I., Rozet, J.M., Calvas, P., Gerber, S., Camuzat, A., Dollfus, H., Chatelin, S., Souied, E., Ghazi, I., Loewski, C., Bonnemaison, M., Le Paslier, D., Frezal, J., Dufier, J-L., Pittler, S., Munnich, A. and Kaplan, J. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nature Genet., 14, 461-464.
24. Calabrese, G., Sallese, M., Stornaiuolo, A., Stuppia, L., Palka, G and De Bias, A. (1994) Chromosome mapping of the human arrestin (SAG), β-arrestin 2 (ARRB2), and β-adrenergic receptor kinase 2 (ADRBK2) genes. Genomics, 23, 286-288.
25. Tombran-Tink, J., Pawar, H., Swaroop, A., Rodriguez, I. and Chader, G.J. (1994) Localization of the gene for pigment epithelium-derived factor (PEDF) to chromosome 17p13.1 and expression in cultured human retinoblastoma cells. Genomics, 19, 266-272.
26. Fitzgibbon, J., Pilz, A., Gayther, S., Appukuttan, B., Dulai, K.S., Delhanty, J.D.A., Helmkamp, Jr. G.M., Yarbrough, L.R. and Hunt, D.M. (1994) Localization of the gene encoding human phosphatidylinositol transfer protein (PITPN) to 17p13.3: a gene showing homology to the Drosophila retinal degeneration B gene (rdgB). Cytogenet. Cell Genet., 67, 205-207.
27. Attwood, J. and Bryant, S.A. (1988) A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Am. J. Hum. Genet., 52, 259.
28. Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1984) Strategies for multipoint linkage analysis in humans. Proc. Natl. Acad. Sci.USA, 81, 3443-3446.