A ubiquitin C-terminal hydrolase gene on the proximal short arm of the X chromosome: Implications for X-linked retinal disorders

Human Molecular Genetics

Volumn 5, Issue 4, 1996, Pages 533-538

  Swanson, Deborah A ^a   Freund, Carol L ^a   Ploder, Lynda ^b   McInnes, Roderick R ^b   Valle, David ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYDROLASE;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CARCINOGENESIS; CHROMOSOME XP; CONTROLLED STUDY; DNA TRANSCRIPTION; GENE LOCUS; GENE MAPPING; HUMAN; HUMAN CELL; MOLECULAR CLONING; NORTHERN BLOTTING; OVARY CANCER; PRIORITY JOURNAL; PROTEIN METABOLISM; PROTEIN PROCESSING; RETINA DISEASE; STRUCTURAL GENE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CLONING, MOLECULAR; DNA, COMPLEMENTARY; HUMANS; MOLECULAR SEQUENCE DATA; RETINA; RETINAL DISEASES; SEQUENCE HOMOLOGY, AMINO ACID; THIOLESTER HYDROLASES; TUMOR CELLS, CULTURED; UBIQUITIN THIOLESTERASE; X CHROMOSOME;

EID: 0029876554     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.4.533     Document Type: Article

References (50)

1. Finley D. (1991) Ubiquitination. Annu Rev Cell Biol, 7, 25-69.
2. Hershko A. and Ciechanover, A., (1992) The ubiquitin system for protein degradation. Annu Rev Biochem, 61, 761-807.
3. Wilkinson K. D. (1995) Roles of ubiquitinylation in proteolysis and cellular regulation. Annu Rev Nutr, 15, 161-189.
4. Deshaies R. J. (1995) Make it or break it: The role of ubiquitin-dependent proteolysis in cellular regulation. Trends Cell Biol. 5, 428-434.
5. Paolini R. and Kinet, J.-P. (1993) Cell surface control of the multiubiquitination and deubiquitination of high affinity immunoglobulin E receptors EMBO J, 12, 779-786.
6. Baker R. T., Tobias, J. W. and Varshavsky, A. (1992) Ubiquitin-specific proteases of Saccharomyces cerevisiae. J Biol Chem, 267, 23364-23375.
7. Papa F. R. and Hochstrasser, M. (1993) The yeast DOA4 gene encodes a deubiquitinating enzyme related to a product of the human tre-2 oncogene. Nature, 366, 313-319.
8. Warburg O., Posener, K. and Negelein, E. (1924) Uber den stoffwechehsel der carcinomzelle. Biochem Z, 152, 309-344.
9. Besharse J. C. (1986) Photosensitive membrane turnover: Differentiated membrane domains and cell-cell interaction. In The Retina: A Model for Cell Biology Studies, eds. R. Adler and D. Farber. Academic Press, New York, pp. 297-352.
10. Naash M., Izbicka, E. and Anderson, R. E. (1991) Rat retina has an active and stable ubiquitin-protein conjugation system. J Neurosci Res, 30, 433-441.
11. Doran J. F., Jackson, P., Kynoch, P. A. M. and Thompson, R. J. (1983) Isolation of PGP 9.5, a new human neurone-specific protein detected by high resolution two dimensional electrophoresis. J Neurochem, 40, 1542-1547.
12. Wilkinson K. D., Lee, K., Deshpande, S., Duerksen-Hughes, P., Boss, J. M. and Pohl, J. (1989) The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-termmal hydrolase. Science, 246, 670-673.
13. Bonfanti L., Candeo, P., Piccinini, M , Cannignoto, G., Comelli, M. C., Ghidella, S., Bruno, R., Gobetto, A. and Merighi, A. (1992) Distribution of protein gene product 9.5 (PGP 9.5) in the vertebrate retina: Evidence that immunoreactivity is restricted to mammalian horizontal and ganglion cells. J Comp Neurol, 322, 35-44.
14. Bascom R. A., Manara, S., Collins, L., Molday, R. S , Kalnins, V. I and McInnes, R. R. (1992) Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron, 8, 1171-1184.
15. Sheets M. D., Ogg, S. C. and Wickens, M. P. (1990) Point mutations in AAUAAA and poly(A) addition site: Effects on the accuracy and efficiency of cleavage and polyadenylation in vitro. Nucleic Acids Res, 18, 5799-5805.
16. Altschul S. F., Gish, W., Miller, W., Myers, E. W. and Lipman, D. J. (1990) Basic local alignment search tool. J Mol Biol, 215, 403-410.
17. Shankar V., Tan, S., Gilmore, M. S. and Sachdev, G. P. (1992) Molecular cloning of the carboxy terminus of a canine tracheobronchial mucin. Biochem Blophys Res Comm. 189, 958-964.
18. Hagemann T., Surosky, R., Monaco, A. P., Hehrach, H., Rosen, F. S. and Kwan, S.-P. (1994) Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23. Genomics, 21, 262-265.
19. Takahashi E., Ayusawa, D., Kaneda, S., Itoh, Y., Seno, T. and Hori, T. (1992) The human ubiquitin-activating enzyme E1 gene (UBE1) mapped to band Xp11.3→p11.23 by fluorescence in situ hybridization. Cytogenet Cell Genet, 59, 268-269.
20. Geraghty M. T., Brody, L. C., Martin, L. S., Marble, M., Kearns, W., Pearson, P., Monaco, A. P., Lehrach, H. and Valle, D. (1993) The isolation of cDNAs from OATL1 at Xp11.2 using a 480 kb YAC. Genomics, 16, 440-446.
21. Knight J., Grimaldi, G., Thiesen, H.-J., Bech-Hansen, N., Fletcher, C. and Coleman, M. (1994) Clustered organization of Kruppel Zinc finger genes at Xp11.23, flanking a translocation breakpoint of OATL1: A physical map with locus assignments for ZNF21, ZNF41, ZNF81 and ELK1. Genomics, 21, 180-187.
22. Derry J. M. J., Ochs, H. D. and Francke, U. (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell, 78, 635-644.
23. Olsson J. E., Gordon, J. W , Pawlyk, B. S., Roof, D., Hayes, A., Molday, R. S., Mukai, S., Cowley, G. S., Berson, E. L. and Dryja, T. P. (1992) Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa. Neuron, 9, 815-830.
24. Weber B., Vogt, G., Pruett, R., Stohr, H. and Felbor, U. (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genet, 8, 352-355.
25. Seabra M. C., Brown, M. S and Goldstein, J. L. (1993) Retinal degeneration in choroideremia: Deficiency of Rab geranylgeranyl transferase. Science, 259, 377-381.
26. Andres D. A., Seabra, M. C., Brown, M. S., Armstrong, S. A., Smeland, T. E., Cremers, F. P. and Goldstein, J. L. (1993) cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell, 73, 1091-1099.
27. Vesa J., Hellsten, E., Verkruyse, L. A., Camp, L. A., Rapola, J., Santavuori, P., Hofmann, S. L. and Peltonen, L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature, 376, 584-587.
28. Rosenfeld P., McKusick, V., Amberger, J. and Dryja, T. (1994) Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid and vitreous. J Med Genet, 31, 903-915.
29. Dry K. L., Aldred, M. A., Edgar, A. J., Brown, J., Manson, F. D. C., Ho, M.-F., Prosser, J., Hardwick, L. J., Lennon, A. A , Thomson, K., Van Keuren, M., Kurnit, D. M., Bird, A C., Jay, M., Monaco, A. P. and Wright, A. F. (1995) Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked retinitis pigmentosa (RP3). Hum Mol Genet, 4, 2347-2353.
30. Meindl A., Carvalho, M. R. S., Hermann, K., Lorenz, B., Achatz, H., Lorenz, B., Apfelstedt-Sylla, E., Wittwer, B., Ross, M. and Meitinger, T. (1995) A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa. Hum Mol Genet, 4, 2339-2346.
31. Jentsch S. and Schlenker, S. (1995) Selective protein degradation: A journey's end within the proteasome. Cell, 82, 881-884.
32. Mayer R. J., Arnold, J., Laszlo, L., Landon, M. and Lowe, J. (1991) Ubiquitin in health and disease. Biochim Biophys Acta, 1089, 141-157.
33. Muller S. and Schwartz, L. M. (1995) Ubiquitin in homeostasis, development and disease. BioEssays, 17, 677-684.
34. Fischer-Vize J. A., Rubin, G. M. and Lehmann, R. (1992) The fat facets gene is required for Drosophila eye and embryo development. Development, 116, 985-1000.
35. Gupta K., Copeland, N. G., Gilbert, D J., Jenkins, N. A. and Gray, D. A. (1993) Unp, a mouse gene related to the tre oncogene. Oncogene, 8, 2307-2310.
36. Gupta K., Chevrette, M. and Gray, D. A. (1994) The Unp proto-oncogene encodes a nuclear protein. Oncogene, 9, 1729-1731.
37. Gray D. A., Inazawa, J., Gupta, K., Wong, A., Ueda, R. and Takahashi, T. (1995) Elevated expression of Unph, a proto-oncogene at 3p21.3, in human lung tumors. Oncogene, 10, 2179-2183.
38. Nakamura T , Hillova, J., Mariage-Samson, R., Onno, M., Huebner, K., Cannizzaro, L A., Boghosian-Sell, L., Croce, C M. and Hill, M (1992) A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells. Oncogene, 7, 733-741.
39. Yang-Feng T. L., Han, S. L. H. and Schwartz, P. E. (1992) Frequent loss of heterozygosity on chromosomes Xp and 13q in human ovanan cancer. Int J Cancer, 52, 575-580.
40. Chirgwin J. M., Przybyla, A. E., MacDonald, R. J. and Rutter, W. J. (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochem. 18, 5294-5299.
41. Sambrook J., Fritsch, E. and Maniatis, T. (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press
42. Feinberg A. P. and Vogelstein, B. (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 132, 6-13.
43. Nussbaum R. L., Airhart, S. D. and Ledbetter, D. H. (1983) Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid. Hum Genet, 64, 148-150.
44. Nussbaum R. L., Airhart, S. D. and Ledbetter, D. H. (1986) A rodent-human hybrid containing Xq24-qter translocated to a hamster chromosome expresses the Xq27 folate-sensitive fragile site. Am J Med Genet, 23, 457-466.
45. Luty J. A., Guo, Z., Willard, H. F., Ledbetter, D. H., Ledbetter, S. and Litt, M. (1990) Five polymorphic microsatellite VNTRs on the human X chromosome. Am J Hum Genet, 46, 776-783.
46. Ledbetter S. A., Schwartz, C. E., Davis, K. E. and Ledbetter, D. H. (1991) New somatic cell hybrids for physical mapping in distal Xq and the fragile X region. Am J Med Genet, 38, 418-420.
47. Ledbetter S. A., Garcia-Heras, J. and Ledbetter, D. H (1990) 'PCR-karyotype' of human chromosomes in somatic cell hybrids. Genomics, 8, 614-622.
48. Nelson D. L., Ledbetter, S. A , Corbo, L., Victoria, M. F., Ramirez-Solis, R., Webster, T. D , Ledbetter, D. H. and Caskey, C. T. (1989) Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci USA, 86, 6686-6690.
49. Brody L. C., Mitchell, G. A., Obie, C., Michaud, J., Steel, G., Fontaine, G , Robert, M.-F., Kaiser-Kupfer, M. I. and Valle, D. (1992) Ornithine-δ-aminotransferase mutations causing gyrate atrophy: Allelic heterogeneity and functional consequences. J Biol Chem, 267, 3302-3307.
50. Hsiao K. (1991) A fast and simple procedure for sequencing double stranded DNA with Sequenase. Nucleic Acids Res, 19, 2787.