A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

Genomics

Volumn 40, Issue 1, 1997, Pages 142-146

  Martínez Mir, Amalia ^d   Bayés, Mònica ^d   Vilageliu, Lluïsa ^d   Grinberg, Daniel ^d   Ayuso, Carmen ^a   Del Río, Teresa ^a   García Sandoval, Blanca ^a   Bussaglia, Elena ^b   Baiget, Montserrat ^b   Gonzàlez Duarte, Roser ^d   Balcells, Susana ^c  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1P; CLINICAL ARTICLE; FAMILY STUDY; GENE MUTATION; GENETIC LINKAGE; HUMAN; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

EID: 0031568891     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4528     Document Type: Article

References (32)

1. 1. Anderson, K. L., Baird, L., Lewis, R. A., Chinault, A. C., Otterud, B., Leppert, M., and Lupski, J. R. (1995). A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p. Am. J. Hum. Genet. 57: 1351-1363.
2. 2. Ayuso, C., García-Sandoval, B., Najera, C., Valverde, D., Carballo, M., and Antiñolo, G. (1995). Retinitis pigmentosa in Spain. Clin. Genet. 48: 120-122.
3. 3. Bayés, M., Giordano, M., Balcells, S., Grinberg, D., Vilageliu, L., Martínez, I., Ayuso, C., Benítez, J., Ramos-Arroyo, M. A., Chivelet, P., Solans, T., Valverde, D., Amselem, S., Goossens, M., Baiget, M., Gonzàlez-Duarte, R., and Besmond, C. (1995). Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Hum. Mutat. 5: 228-234.
4. 4. Blatt, C., Eversole-Cire, P., Cohn, V. H., Zollman, S., Fournier, R. E. K., Mohandas, L. T., Nesbitt, M., Lugo, T., Jones, D. T., Reed, R. R., Weiner, L. P., Sparkes, R. S., and Simon, M. I. (1988). Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Proc. Natl. Acad. Sci. USA 85: 7642-7646.
5. 5. Buetow, K. H., Weber, J. L., Ludwigsen, S., Scherpbier-Heddema, T., Duyk, G. M., Sheffield, V. C., Wang, Z., and Murray, J. C. (1994). Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet. 6: 391-393.
6. 6. Dryja, T. P., Finn, J. T., Peng, Y. W., Mcgee, T. L., Berson, E. L., and Yau, K. W. (1995). Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92: 10177-10181.
7. 7. Gerber, S., Rozet, J. M., Bonneau, D., Souied, E., Camuzat, A., Dufier, J. L., Amalric, P., Weissenbach, J., Munnich, A., and Kaplan, J. (1995). A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. Am. J. Hum. Genet. 56: 396-399.
8. 8. Gerber, S., Rozet, J. M., Bonneau, D., Souied, E., Weissenbach, J., Frezal, J., Munnich, A., and Kaplan, J. (1995). Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. Hum. Genet. 95: 382-384.
9. 9. Heckenlively, J. R., Yoser, S. L., Friedman, L. H., and Oversier, J. J. (1988). Clinical findings and common symptoms in retinitis pigmentosa. Am. J. Ophthalmol. 105: 504-511.
10. 10. Huang, S. H., Pittler, S. J., Huang, X. H., Oliveira, L., Berson, E. L., and Dryja, T. P. (1995). Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nature Genet. 11: 468-471.
11. 11. Kajiwara, K., Sandberg, M. A., Berson, E. L., and Dryja, T. P. (1993). A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet. 3: 208-212.
12. 12. Kaplan, J., Gerber, S., Larget-Piet, D., Rozet, J. M., Dollfus, H., Dufier, J. L., Odent, S., Postel-Vinay, A., Janin, N., Briard, M. L., Frezal, J., and Munnich, A. (1993). A gene for Stargardt's disease (fundus flavimaculatus) maps to short arm of chromosome 1. Nature Genet. 5: 308-311.
13. 13. Kimberling, W. J., Moller, C. G., Davenport, S., Priluck, I. A., Beighton, P. H., Greenberg, J., Reardon, W., Weston, M. D., Kenyon, J. B., Grunkemeyer, J. A., Dahl, S. P., Overbeck, L. D., Blackwood, D. J., Brower, A. M., Hoover, D. M., Rowland, P., and Smith, R. J. H. (1992). Linkage of Usher syndrome type-I tene (USH1B) to the long arm of chromosome-11. Genomics 14: 988-994.
14. 14. Knowles, J. A., Shugart, Y., Banerjee, P., Gilliam, T. C., Lewis, C. A., Jacobson, S. G., and Ott, J. (1994). Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Hum. Mol. Genet. 3: 1401-1403.
15. 15. Kumaramanickavel, G., Maw, M., Denton, M. J., John, S., Srikumari, C. R. S., Orth, U., Oehlmann, R., and Gal, A. (1994). Missense rhodopsin mutation in a family with recessive RP. Nature Genet. 8: 10-11.
16. 16. Lathrop, G. M., and Lalouel, J. M. (1984). Easy calculations of Lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36: 460-465.
17. 17. Leppert, M., Baird, L., Anderson, K. L., Otterud, B., Lupski, J. R., and Lewis, R. A. (1994). Bardet-Biedl syndrome is linked to DNA markers on chromosome Uq and is genetically heterogeneous. Nature Genet. 7: 108-112.
18. 18. Leutelt, J., Oehlmann, R., Younus, F., Vandenborn, L. I., Weber, J. L., Denton, M. J., Mehdi, S. Q., and Gal, A. (1995). Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan. Clin. Genet. 47: 122-124.
19. 19. Li, Y., Müller, B., Fuhram, C., Erik van Nouhuys, C., Laqua, H., Humphries, P., Schwinger, E., and Gal, A. (1992). The autosomal dominant familial exudative vitreretinopathy locus maps on 11q and is closely linked to D11S533. Am. J. Hum. Genet. 51: 749-754.
20. 20. Magovcevic, I., Weremowicz, S., Morton, C. C., Fong, S. L., Berson, E. L., and Dryja, T. P. (1995). Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. Genomics 25: 288-290.
21. 21. McLaughlin, M. E., Ehrhart, T. L., Berson, E. L., and Dryja, T. P. (1995). Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 92: 3249-3253.
22. 22. Miller, S.A., Dyke, D.D., and Polesky, H. F. (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
23. 23. Nichols, B. E., Sheffield, V. C., Vandenburgh, K., Drack, A. V., Kimura, A. E., and Stone, E. M. (1993). Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nature Genet. 3: 202-207.
24. 24. Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., and Dryja, T. P. (1992). A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1: 209-213.
25. 25. Rozet, J., Gerber, S., Bonneau, D., Munnich, A., and Kaplan, J. (1994). Dsal polymorphism at the human cone transducin α-subunit (GNAT2) detected by PCR. Hum. Mol. Genet. 3: 1030.
26. 26. Stone, E. M., Kimura, A. E., Folk, J. C., Bennett, S. R., Nichols, B. E., Streb, L. M., and Sheffield, V. C. (1992). Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum. Mol. Genet. 1: 685-689.
27. 27. Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E., and Sheffield, V. C. (1992). Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet. 1: 246-250.
28. 28. Valverde, D., Baiget, M., Seminago, R., del Rio, E., García-Sandoval, B., del Rio, T., Bayés, M., Balcells, S., Martínez, A., Grinberg, D., and Ayuso, C. (1996). Identification of a novel ARG552GLN in exon 13 of the β3-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Hum. Mutat., in press.
29. 29. Valverde, D., Solans, T., Grinberg, D., Balcells, S., Vilageliu, L., Bayes, M., Chivelet, P., Besmond, C., Goossens, M., Gonàlez Duarte, R., and Baiget, M. (1996). A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Hum. Genet. 97: 35-38.
30. 30. Van Soest, S., Vandenborn, L. I., Gal, A., Farrar, G. J., Bleekerwagemakers, L. M., Westerveld, A., Humphries, P., Sandkuijl, L. A., and Bergen, A. A. B. (1994). Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. Genomics 22: 499-504.
31. 31. Weleber, R. G., Carr, R. E., Murphey, W. H., Sheffield, V. C., and Stone, E. M. (1993). Phenotypic variation including retinitis-pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch. Ophthalmol. 111: 1531-1542.
32. 32. Wells, J., Wroblewski, J., Keen, J., Inglehearn, C., Jubb, C., Eckstein, A., Jay, M., Arden, G., Bhattacharya, S., Fitzke, F., and Bird, A. (1993). Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet. 3: 213-218.