Putative association of a mutant ROM1 allele with retinitis pigmentosa
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them only accounts for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been puta...
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| Otros Autores: | , , , , , , , , , , |
| Formato: | Capítulo de libro |
| Lenguaje: | Inglés |
| Publicado: |
1997
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| Acceso en línea: | Registro en Scopus DOI Handle Registro en la Biblioteca Digital |
| Aporte de: | Registro referencial: Solicitar el recurso aquí |
| LEADER | 10588caa a22011657a 4500 | ||
|---|---|---|---|
| 001 | PAPER-3256 | ||
| 003 | AR-BaUEN | ||
| 005 | 20230518203243.0 | ||
| 008 | 190411s1997 xx ||||fo|||| 00| 0 eng|d | ||
| 024 | 7 | |2 scopus |a 2-s2.0-1842296355 | |
| 024 | 7 | |2 cas |a Eye Proteins; Membrane Proteins; ROM1 protein, human | |
| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
| 030 | |a HUGED | ||
| 100 | 1 | |a Martínez-Mir, A. | |
| 245 | 1 | 0 | |a Putative association of a mutant ROM1 allele with retinitis pigmentosa |
| 260 | |c 1997 | ||
| 270 | 1 | 0 | |m Vilageliu, L.; Departament de Genetica, Fac. Biologia Universitat Barcelona, Av. Diagonal 645, E-08071 Barcelona, Spain; email: lluisa@porthos.bio.ub.es |
| 506 | |2 openaire |e Política editorial | ||
| 504 | |a Bascom, R.A., Manara, S., Collins, L., Molday, R.S., Kalnins, V.I., Mcinnes, R.R., Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies (1992) Neuron, 8, pp. 1171-1184 | ||
| 504 | |a Bascom, R.A., Schappert, K., McInnes, R.R., Cloning of the human and murine ROM1 genes: Genomic organization and sequence conservation (1993) Hum Mol Genet, 2, pp. 385-391 | ||
| 504 | |a Bascom, R.A., Liu, L., Humphries, P., Fishman, G.A., Murray, J.C., McInnes, R.R., Polymorphisms and rare sequence variants at the ROM1 locus (1993) Hum Mol Genet, 2, pp. 1975-1977 | ||
| 504 | |a Bascom, R.A., Liu, L., Heckenlively, J.R., Stone, E.M., McInnes, R., Mutation analysis of the ROM1 gene in retinitis pigmentosa (1995) Hum Mol Genet, 4, pp. 1895-1902. , erratum:4:2424 | ||
| 504 | |a Bayés, M., Valverde, D., Balcells, S., Grinberg, D., Vilageliu, L., Benítez, J., Ayuso, C., Gonzàlez-Duarte, R., Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families (1995) Hum Genet, 96, pp. 89-94 | ||
| 504 | |a Bayés, M., Martínez-Mir, A., Valverde, D., Del Río, E., Vilageliu, L.L., Grinberg, D., Balcells, S., Gonzàlez-Duarte, R., Autosomal recessive retinitis pigmentosa in Spain: Evaluation of 4 genes and 2 loci involved in the disease (1996) Clin Genet, 50, pp. 380-387 | ||
| 504 | |a Berson, E.L., Simonoff, E.A., Dominant retinitis pigmentosa with reduced penetrance (1979) Arch Ophthalmol, 97, pp. 1286-1291 | ||
| 504 | |a Collins, C., Hutchinson, G., Kowbel, D., Riess, O., Weber, B., Hayden, M.R., The human beta-subunit of rod photoreceptor cGMP phosphodiesterase - Complete retinal cDNA sequence and evidence for expression in brain (1992) Genomics, 13, pp. 698-704 | ||
| 504 | |a Dryja, T.P., Li, T., Molecular genetics of retinitis pigmentosa (1995) Hum Mol Genet, 4, pp. 1739-1743 | ||
| 504 | |a Evans, K., Almaghtheh, M., Fitzke, F.W., Moore, A.T., Jay, M., Inglehearn, C.F., Arden, G.B., Bird, A.C., Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q (1995) Br J Ophthalmol, 79, pp. 841-846 | ||
| 504 | |a Hahn, L.B., Berson, E.L., Dryja, T.P., Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa (1994) Invest Ophthalmol Vis Sci, 35, pp. 1077-1082 | ||
| 504 | |a Heckenlively, J.R., Yoser, S.L., Friedman, L.H., Oversier, J.J., Clinical findings and common symptoms in retinitis pigmentosa (1988) Am J Ophthalmol, 105, pp. 504-511 | ||
| 504 | |a Kajiwara, K., Berson, E.L., Dryja, T., Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci (1994) Science, 264, pp. 1604-1608 | ||
| 504 | |a Keen, T.J., Inglehearn, C.F., Lester, D.H., Bashir, R., Jay, M., Bird, A.C., Jay, B., Bhattacharya, S.S., Autosomal dominant retinitis-pigmentosa - Four new mutations in rhodopsin, one of them in the retinal attachment site (1991) Genomics, 11, pp. 199-205 | ||
| 504 | |a Kim, S.K., Haines, J.L., Berson, E.L., Dryja, T.P., Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance (1994) Genomics, 22, pp. 659-660 | ||
| 504 | |a Kim, R.Y., Fitzke, F.W., Moore, A.T., Jay, M., Inglehearn, C., Arden, G.B., Bhattacharya, S.S., Bird, A.C., Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression (1995) Br J Ophthalmol, 79, pp. 23-27 | ||
| 504 | |a Kumar-Singh, R., Jordan, S.A., Farrar, G.J., Humphries, P., Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus (1991) Nucleic Acids Res, 19, p. 5800 | ||
| 504 | |a Miller, S.A., Dyke, D.D., Polesky, H.F., A simple salting out procedure for extracting DNA from human nucleated cells (1988) Nucleic Acids Res, 16, p. 1215 | ||
| 504 | |a Moritz, O.L., Molday, R.S., Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells (1996) Invest Ophthalmol Vis Sci, 37, pp. 352-362 | ||
| 504 | |a Piriev, N.I., Khramtsov, N.V., Lipkin, V.M., Cloning and characterization of the gene encoding the cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor cells (1994) Gene, 151, pp. 297-301 | ||
| 504 | |a Riess, O., Noerremoelle, A., Weber, B., Musarella, M.A., Hayden, M.R., The search for mutations in the gene for the beta-subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis-pigmentosa (1992) Am J Hum Genet, 51, pp. 755-762 | ||
| 504 | |a Sakuma, H., Inana, G., Murakami, A., Yajima, T., Weleber, R.G., Murphey, W.H., Gass, J.D.M., Jacobson, S.G., A heterozygous putative null mutation in ROM-1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa (1995) Genomics, 27, pp. 384-386 | ||
| 504 | |a Sheffield, V.C., Beck, J.S., Nichols, B., Cousineau, A., Lidral, A.C., Stone, E.M., Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis (1992) Am J Hum Genet, 50, pp. 567-575 | ||
| 504 | |a Travis, G.H., Christerson, L., Danielson, P.E., Klisak, I., Sparkes, R.S., Hahn, L.B., Dryja, T.P., Sutcliffe, J.G., The human retinal degeneration slow (RDS) gene - Chromosome assignment and structure of the messenger RNA (1991) Genomics, 10, pp. 733-739 | ||
| 504 | |a Xu, S.Y., Nakazawa, M., Tamai, M., Gal, A., Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family (1995) J Med Genet, 32, pp. 915-916 | ||
| 520 | 3 | |a Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous form of retinal degeneration. Several genes and loci have been shown to be involved in the disease, although each of them only accounts for a few cases. Mutations in the gene encoding ROM1, a rod-specific protein, have been putatively associated with several forms of RP. Here we describe a double-mutant allele of this gene, P60T and T108M, present in two affected sibs and also in two healthy members of a Spanish RP family. The same double-mutant allele was previously considered to be responsible for autosomal dominant RP in one family. We now report data that question the potential pathogenicity of these two ROM1 mutations. |l eng | |
| 536 | |a Detalles de la financiación: Generalitat de Catalunya | ||
| 536 | |a Detalles de la financiación: Universidad de Buenos Aires | ||
| 536 | |a Detalles de la financiación: Comisión Interministerial de Ciencia y Tecnología, SAF96-0329, SAF93-0479-062- 01 | ||
| 536 | |a Detalles de la financiación: Acknowledgements We are indebted to Dr. A. Swaroop for providing the NRL gene sequence and primers. We appreciate the invaluable contribution of Lola Sánchez in collecting the samples and her enthusiasm throughout this work. We thank family members for their cooperation and patience when taking the tests. Robin Rycroft revised the English; we greatly appreciate his help. This work was supported by Spanish CICYT (SAF93-0479-062- 01; SAF96-0329) and the “Federación de Asociaciones de Afecta-dos de Retinosis Pigmentaria del Estado Español” (FAARPE). A. Martínez-Mir and M. Bayés are recipients of fellowships from the “Generalitat de Catalunya” and L. Dain received an R. H. Thal-mann fellowship from Universidad de Buenos Aires. | ||
| 593 | |a Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal 645, E-08071 Barcelona, Spain | ||
| 593 | |a Servicio de Neurofisiologia, Hospital Universitario La Fe, E-46009 Valencia, Spain | ||
| 593 | |a Unitat de Genètica Molecular, Hospital de la Santa Creu i Sant Pau, E-08025 Barcelona, Spain | ||
| 593 | |a Unidad de Genética, Hospital Universitario La Fe, E-46009 Valencia, Spain | ||
| 593 | |a Servicio de Oftalmología, Hosp. Clínico Universitario, Valencia, Spain | ||
| 593 | |a Depto. de Diagnostico Genetico, INGEM y FCEN UBA, Buenos Aires, Argentina | ||
| 690 | 1 | 0 | |a MEMBRANE PROTEIN |
| 690 | 1 | 0 | |a MUTANT PROTEIN |
| 690 | 1 | 0 | |a ARTICLE |
| 690 | 1 | 0 | |a CASE REPORT |
| 690 | 1 | 0 | |a CONTROLLED STUDY |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a GENE MUTATION |
| 690 | 1 | 0 | |a GENETIC HETEROGENEITY |
| 690 | 1 | 0 | |a HUMAN |
| 690 | 1 | 0 | |a HUMAN CELL |
| 690 | 1 | 0 | |a PRIORITY JOURNAL |
| 690 | 1 | 0 | |a RETINA ROD OUTER SEGMENT |
| 690 | 1 | 0 | |a RETINITIS PIGMENTOSA |
| 690 | 1 | 0 | |a ADOLESCENT |
| 690 | 1 | 0 | |a ADULT |
| 690 | 1 | 0 | |a ALLELES |
| 690 | 1 | 0 | |a EYE PROTEINS |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a HUMANS |
| 690 | 1 | 0 | |a MALE |
| 690 | 1 | 0 | |a MEMBRANE PROTEINS |
| 690 | 1 | 0 | |a MIDDLE AGED |
| 690 | 1 | 0 | |a PEDIGREE |
| 690 | 1 | 0 | |a POLYMERASE CHAIN REACTION |
| 690 | 1 | 0 | |a POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL |
| 690 | 1 | 0 | |a RETINITIS PIGMENTOSA |
| 690 | 1 | 0 | |a ROD OUTER SEGMENTS |
| 700 | 1 | |a Vilela, C. | |
| 700 | 1 | |a Bayés, M. | |
| 700 | 1 | |a Valverde, D. | |
| 700 | 1 | |a Dain, L. | |
| 700 | 1 | |a Beneyto, M. | |
| 700 | 1 | |a Marco, M. | |
| 700 | 1 | |a Baiget, M. | |
| 700 | 1 | |a Grinberg, D. | |
| 700 | 1 | |a Balcells, S. | |
| 700 | 1 | |a Gonzàlez-Duarte, R. | |
| 700 | 1 | |a Vilaseliu, L. | |
| 773 | 0 | |d 1997 |g v. 99 |h pp. 827-830 |k n. 6 |p HUM. GENET. |x 03406717 |w (AR-BaUEN)CENRE-1775 |t Human Genetics | |
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