A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1

Genome Research

Volumn 8, Issue 1, 1998, Pages 48-56

  Stöhr, Heidi ^a   Marquardt, Andreas ^a   Rivera, Andrea ^a   Cooper, Paul R ^b   Nowak, Norma J ^b   Shows, Thomas B ^b   Gerhard, Daniela S ^c   Weber, Bernhard H F ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b ROSWELL PARK CANCER INSTITUTE   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 11Q; CONTROLLED STUDY; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MOLECULAR CLONING; NORTHERN BLOTTING; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA VITELLIFORM DEGENERATION; TISSUE SPECIFICITY;

EID: 2642710007     PISSN: 10889051     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.8.1.48     Document Type: Article

References (42)

1. Allikmets, R., N. Sing, H. Sun, N.E. Shroyer, A. Hutchinson, A. Chidambaram, B. Gerrard, L. Baird, D. Stauffer, A. Peiffer et al. 1997. A photoreceptor cell specific ATP binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15: 236-246.
2. Best, F. 1905. Über eine hereditäre Maculaffektion: Beiträge zur Vererbungslehre. Z. Augenheilkd. 13: 199-212.
3. Boyd, D., S.K. Jain, J. Crampton, K.J. Barrett, and J. Drysdale. 1984. Isolation and characterization of a cDNA clone for human ferritin heavy chain. Proc. Natl. Acad. Sci. 81: 4751-4755.
4. Buckler, A.J., D.D. Chang, S.L. Graw, J.D. Brook, D.A. Haber, P.A. Sharp, and D.E. Housman. 1991. Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. 88: 4005-4009.
5. Church, G.M. and W. Gilbert. 1984. Genomic sequencing. Proc. Natl. Acad. Sci. 81: 1991-1995.
6. Collins, F.S. 1995. Positional cloning moves from perditional to traditional. Nature Genet. 9: 347-350.
7. Cooper, P.R., N.J. Nowak, M.J. Higgins, S.A. Simpson, A. Marquardt, H. Stoehr, B.H.F. Weber, D.S. Gerhard, P.J. Dejong, and T.B. Shows. 1997. A sequence-ready high-resolution physical map of the Best's macular dystrophy gene region in 11q12-q13. Genomics 41: 185-192.
8. David, G., N. Abbas, G. Stevanin, A. Durr, G. Yvert, G. Cancel, C. Weber, G. Imbert, F. Saudou, E. Antoniou et al. 1997. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nature Genet. 17: 65-70.
9. Dhar, M., V. Chauthaiwale, and J.G. Joshi. 1993. Sequence of a cDNA encoding the ferritin H-chain from an 11-week-old human fetal brain. Gene 126: 275-278.
10. Dryja, T.P., T.L. McGee, E. Reichel, L.B. Hahn, G.S. Cowley, D.W. Yandell, M.A. Sandberg, and E.L. Berson. 1990. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343: 364-366.
11. Dualan, R., T. Brody, S. Keeney, A.F. Nichols, A. Admon, and S. Linn. 1995. Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein. Genomics 29: 62-69.
12. Dunn, K.C., A.E. Aotaki-Keen, F.R. Putkey, and L.M. Hjelmeland. 1996. ARPE-19, a human retinal pigment epithelial cell line with differentiated properties. Exp. Eye Res. 62: 155-169.
13. Evers, M.P.G., B. Zelle, G.P. Bebelman, V. van Beusechen, L. Kraakman, M.G.V. Hoffer, G.C. Pronk, W.H. Mager, R.G. Planta, A.N. Eriksson, and R.R. Frants. 1989. Nucleotide sequence comparison of five human pepsinogen A (PGA) genes: Evolution of the PGA multigene family. Genomics 4: 232-239.
14. Fields, C., M.D. Adams, O. White, and J.C. Venter. 1994. How many genes in the human genome? Nature Genet. 7: 345-346.
15. Forsman, K., C. Graff, S. Nordstrom, K. Johansson, E. Westermark, E. Lundgren, K.H. Gustavson, C. Wadelius, and G. Holmgren. 1992. The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin. Genet. 42: 156-159.
16. Gish, W. and D.J. States. 1993. Identification of protein coding regions by database similarity search. Nature Genet. 3: 266-272.
17. Hentze, M.W., S. Keim, P. Papadopoulos, S. O'Brien, W. Modi, J. Drysdale, W.J. Leonard, J.B. Harford, and R.D. Klausner. 1986. Cloning, characterization, expression, and chromosomal localization of a human ferritin heavy-chain gene. Proc. Natl. Acad. Sci. 83: 7226-7230.
18. Hiraoka, L.R., J.J. Harrington, D.S. Gerhard, M.R. Lieber, and C.L. Hsieh. 1995. Sequence of human FEN-1, a structure-specific endonuclease, and chromosomal localization of the gene (FEN1) in mouse and human. Genomics 25: 220-225.
19. Jones, N.H., M.L. Clabby, D.P. Dialynas, H.J.S. Huang, L.A. Herzenberg, and J.L. Strominger. 1986. Isolation of complementary DNA clones encoding the human lymphocyte glycoprotein T1/Leu-1. Nature 323: 346-349.
20. Kajiwara, K., M.A. Sandberg, E.L. Berson, and T.P. Dryja. 1993. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nature Genet. 3: 208-212.
21. Lindsay, S., and A.P. Bird. 1987. Use of restriction enzymes to detect potential gene sequences in mammalian DNA. Nature 327: 336-338.
22. Morgan, J.G., G.M. Dolganov, S.E. Robbins, L.M. Hinton, and M. Lovett. 1992. The selective isolation of novel cDNAs encoded by the regions surrounding the human interleukin 4 and 5 genes. λNucleic Acids Res. 20: 5173-5179.
23. Nichols, B.E., V.C. Sheffield, K. Vandenburgh, A.V. Drack, A.E. Kimura, and E.M. Stone. 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. O'Gorman S., W.A. Flaherty, G.A. Fishman, and E.L. Berson. 1988. Histopathologic findings in Best's vitelliform macular dystrophy. Arch. Ophthalmol. 106: 1261-1268.
25. Papadopoulos, P., D. Bhavsar, E. Zappone, V. David, C. Jones, M. Worwood, and J. Drysdale. 1992. A second human ferritin H locus on chromosome 11. Cytogenet. Cell Genet. 61: 107-108.
26. Parimoo, S., S.R. Patanjali, R. Kolluri, H. Xu, H. Wei, and S.M. Weissman. 1995. cDNA selection and other approaches in positional cloning. Anal. Biochem. 228: 1-17.
27. Qin, S., N.J. Nowak, J. Zhang, S.N. Sait, P.G. Mayers, M.J. Higgins, Y. Cheng, L. Li, D.J. Munroe, D.S. Gerhard et al. 1996. A high-resolution physical map of human chromosome 11. Proc. Natl. Acad. Sci. 93: 3149-3154.
28. Rommens, J.M., B. Lin, G.B. Hutchinson, S.E. Andrew, Y.P. Goldberg, M.L. Glaves, R. Graham, V. Lai, J. McArthur, J. Nasir et al. 1993. A transcription map of the region containing the Huntington disease gene. Hum. Mol. Genet. 2: 901-907.
29. Rommens, J.M., F. Durocher, J. McArthur, P. Tonin, J.-F. LeBlanc, T. Allen, C. Samson, L. Fern, S. Narod, K. Morgan, and J. Simard. 1995. Generation of a transcript map at the HSD 17B locus centromeric to BRCA1 at 17q21. Genomics 28: 530-542.
30. Sauer, G.S., A. Gehrig, R. Warneke-Wittstock, A. Marquardt, C.C. Ewing, A. Gibson, B. Lorenz, B. Jurklies, and B.H.F. Weber. 1997. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genet. 17: 164-170.
31. Scherer, S. and L.-C. Tsui. 1991. Cloning and analysis of large DNA molecules. In Advanced techniques in chromosome research (ed. K.W. Adolph), pp. 33-72. Marcel Dekker Inc., New York, NY.
32. Schmid, C.W. and W.R. Jelinek. 1982. The Alu family of dispersed repetitive sequences. Science 216: 1065-1070.
33. Schuler, G.D., M.S. Boguski, E.A. Stewart, L.D. Stein, G. Gyapay et al. 1996. A gene map of the human genome. Science 274: 540-546.
34. Shows, T.B., M. Alders, S. Bennett, D. Burbee, P. Cartwright et al. 1996. Report of the Fifth International Workshop on Human Chromosome 11. Cytogenet. Cell Genet. 74: 1-56.
35. Stöhr, H. and B.H.F. Weber. 1995. A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region. Hum. Genet. 95: 219-222.
36. Stone, E.M., B.E. Nichols, L.M. Streb, A.E. Kimura, and V.C. Sheffield. 1992. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet. 1: 246-250.
37. Sullivan, L.S. and S.P. Daiger. 1996. Inherited retinal degeneration: Exceptional genetic and clinical heterogeneity. Mol. Med. Today 2: 380-386.
38. Uberbacher, E.C. and R.J. Mural. 1991. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. 88: 11261-11265.
39. Wadelius, C., C. Graff, K. Forsman, A. Eriksson, O. Sandgren, J. Weissenbach, and G. Holmgren. 1996. Genetic and physical mapping of the gene for Best's macular dystrophy. Am. J. Hum. Genet. 59: 1384.
40. Weber, B.H.F., G. Vogt, R.C. Pruett, H. Stöhr, and U. Felbor. 1994. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet. 8: 352-356.
41. Weingeist, T.A., J.L. Kobrin, and R.C Watzke. 1982. Histopathology of Best's macular dystrophy. Arch. Ophthalmol. 100: 1108-1114.
42. Wells, J., J. Wroblewski, J. Keen, C. Inglehearn, C. Jubb, A. Eckstein, M. Jay, G. Arden, S. Bhattacharya, F. Fitzke, and A.C. Bird. 1993. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature Genet. 3: 213-218.