Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression

Human Molecular Genetics

Volumn 9, Issue 2, 2000, Pages 203-216

  Prawitt, Dirk ^c   Enklaar, Thorsten ^c   Klemm, Gabi ^c   Gärtner, Barbara ^c   Spangenberg, Christian ^c   Winterpacht, Andreas ^c   Higgins, Michael ^a   Pelletier, Jerry ^b   Zabel, Bernhard ^c  

^a ROSWELL PARK CANCER INSTITUTE   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MELASTATIN; MESSENGER RNA; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; CHROMOSOME 11P; CONTROLLED STUDY; DATA BASE; EXON; EXPRESSED SEQUENCE TAG; GENE EXPRESSION; GENOME IMPRINTING; HUMAN; HUMAN CELL; HYBRID CELL; MULTIGENE FAMILY; NEPHROBLASTOMA; NUCLEOTIDE SEQUENCE; ONCOGENE; OPEN READING FRAME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA; SEQUENCE HOMOLOGY; TISSUE DISTRIBUTION;

CAENORHABDITIS ELEGANS;

EID: 0033958493     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.2.203     Document Type: Article

References (60)

1. Karnik, P., Chen, P., Paris, M., Yeger, H. and Williams, B.R. (1998) Loss of heterozygosity at chromosome 11p15 in Wilms' tumors: identification of two independent regions. Oncogcne, 17, 237-240.
2. Dao, D., Walsh, C.P., Yuan, L., Gorelov, D., Feng, L., Hensle, T., Nisen, P., Yamashiro, D.J., Bestor, T.H. and Tycko, B. (1999) Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms' tumorigenesis and methylation hyper-dependence of H19 imprinting. Hum. Mol. Genet., 8, 1337-1352.
3. Thorburn, M.J., Wright, E.S., Miller, C.G. and Smith-Read, E.H.M. (1970) Exomphalos-macroglossia-gigamism syndrome in Jamaican infants. Am. J. Dis. Child., 119, 316-321.
4. Li, M., Squire, J.A. and Weksberg, R. (1998) Overgrowth syndromes and genomic imprinting: from mouse to man. Clin. Genet., 53, 165-170.
5. Huff, V. (1998) Wilms' tumor genetics. Am. J. Med. Genet., 79, 260-267.
6. Reid, L.H., West, A., Gioeli, D.G., Phillips, K.K., Kelleher, K.F., Araujo, D., Stanbridge, E.J., Dowdy, S.F., Gerhard, D.S. and Weissman, B.E. (1996) Localization of a tumor suppressor gene in 11p15.5 using the G401 Wilms' tumor assay. Hum. Mol. Genet., 5, 239-247.
7. Hu, R.-J., Lee, M.P., Connors, T.D., Johnson, L.A., Burn, T.C., Su, K., Landes, G.M. and Feinberg, A.P. (1997) A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. Genomics, 46, 9-17.
8. Surani, M.A., Barton, S.C. and Norris, M.L. (1984) Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature, 308, 548-550.
9. Hall, J.G. (1997) Genomic imprinting: nature and clinical relevance. Annu. Rev. Med., 48, 35-44.
10. Joyce, J.A. and Schofield, P.N. (1998) Genomic imprinting and cancer. Mol. Pathol., 51, 185-190.
11. Feinberg, A.P. (1999) Imprinting of a genomic domain of 11p15 and loss of imprinting in cancer: an introduction. Cancer Res., 59(Suppl. 7), 1743s-1746s.
12. Schinzel, A. (1993) Genomic imprinting: consequences of uniparental disomy for human disease. Am. J. Med. Genet., 46, 683-684.
13. Ramesar, R., Babaya, M. and Viljoen, D. (1993) Molecular investigation of familial Beckwith-Wiedemann syndrome: a model for paternal imprinting. Eur. J. Hum. Genet., 1, 109-113.
14. Ohlsson, C., Nilsson, A., Isaksson, O.G. and Lindahl, A. (1992) Effect of growth hormone and insulin-like growth factor-1 on DNA synthesis and matrix production in rat epiphyseal chondrocytes in monolayer culture. J. Endocrinol., 133, 291-300.
15. Morison, I.M., Becroft, D.M., Taniguchi, T., Woods, C.G. and Reeve, A.E. (1996) Somatic overgrowth associated with overexpression of insulin-like growth factor II. Nature Med., 2, 311-316.
16. Vu, T.H. and Hoffman, A. (1996) Alterations in the promoter-specific imprinting of the insulin-like growth factor-II gene in Wilms' tumor. J. Biol. Chem., 271, 9014-9023.
17. Sun, F.L., Dean, W.L., Kelsey, G., Allen, N.D. and Reik, W. (1997) Transactivalion of IGF2 in a mouse model of Beckwith-Wiedemann syndrome. Nature, 389, 809-815.
18. Hao, Y., Crenshaw, T., Moulton, T., Newcomb, E. and Tycko, B. (1993) Tumour-suppressor activity of H19 RNA. Nature, 365, 764-767.
19. Pfeifer, K., Leighton, P.A. and Tilghman, S.M. (1996) The structural H19 gene is required for transgene imprinting. Proc. Natl Acad. Sci. USA, 93, 13876-13883.
20. Isfort, R.J., Cody, D.B., Kerckaert, G.A., Tycko, B. and LeBoeuf, R.A. (1997) Role of the H19 gene in Syrian hamster embryo cell tumorigenicity. Mol. Carcinog., 20, 189-193.
21. Leighton, P.A., Ingram, R.S., Eggenschwiler, J., Efstratiadis, A. and Tilghman, S.M. (1995) Disruption of imprinting caused by deletion of the H19 gene region in mice. Nature, 375, 34-39.
22. Lee, M.H., Reynisdottir, I. and Massague, J. (1995) Cloning of p57KIP2, a cydin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev., 9, 639-649.
23. Matsuoka, S., Edwards, M.C., Bai, C., Parker, S., Zhang, P., Baldini, A., Harper, J.W. and Elledge, S.J. (1995) p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Genes Dev., 9, 650-662.
24. Matsuoka, S., Thompson, J.S., Edwards, M.C., Bartletta, J.M., Grundy, P., Kalikin, L.M., Harper, J.W., Elledge, S.J. and Feinberg, A.P. (1996) Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Proc. Natl Acad. Sci. USA, 93, 3026-3030.
25. Lee, M.P., DeBaun, M., Randhawa, G., Reichard, B.A., Elledge, S.J. and Feinberg, A.P. (1997) Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome. Am. J. Hum. Genet., 61, 304-309.
26. Hatada, I., Nabetani, A., Morisaki, H., Xin, Z., Ohishi, S., Tonoki, H., Niikawa, N., Inoue, M., Komoto, Y., Okada, A. et al. (1997) New p57KIP2 mutations in Beckwith-Wiedemann syndrome. Hum. Genet., 100, 681-683.
27. O'Keefe, D., Dao, D., Zhao, L., Sanderson, R., Warburton, D., Weiss, L., Anyane-Yeboa, K. and Tycko, B. (1997) Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms' tumors. Am. J. Hum. Genet., 61, 295-303.
28. Zhang, P., Liegeois, N.J., Wong, C., Finegold, M., Hou, H., Thompson, J.C., Silverman, A., Harper, J.W., DePinho, R.A. and Elledge, S.J. (1997) Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith-Wiedemann syndrome. Nature, 387, 151-158.
29. Tokino, T., Urano, T., Furuhata, T., Matsushima, M., Miyatsu, T., Sasaki, S. and Nakamura, Y. (1996) Characterization of the human p57KIP2 gene: alternative splicing, insertion/deletion polymorphisms in VNTR sequences in the coding region, and mutational analysis. Hum. Genet., 97, 625-631.
30. Reid, L.H., Davies, C., Cooper, P.R., Crider-Miller, S.J., Sait, S.N., Nowak, N.J., Evans, G., Stanbridge, E.J., deJong, P., Shows, T.B. et al. (1997) A 1-Mb physical map and PAC contig of the imprinted domain in 11p15.5 that contains TAPA1 and the BWSCR1/WT2 region. Genomics, 43, 366-375.
31. Mitsuya, K., Meguro, M., Lee, M.P., Katoh, M., Schulz, T.C., Kugoh, H., Yoshida, M.A., Niikawa, N., Feinberg, A.P. and Oshimura, M. (1999) LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. Hum. Mol. Genet., 8, 1209-1217.
32. Smilinich, N.J., Day, C.D., Fitzpatrick, G.V., Caldwell, G.M., Lossie, A.C., Cooper, P.R., Smallwood, A.C., Joyce, J.A., Schofield, P.N., Reik, W. et al. (1999) A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc. Natl Acad. Sci. USA, 96, 8064-8069.
33. Gabriel, J.M., Higgins, M.J., Gebuhr, T.C., Shows, T.B., Saitoh, S. and Nicholls, R.D. (1998) A model system to study genomic imprinting of human genes. Proc. Natl Acad. Sci. USA, 95, 14857-14862.
34. Löbbert, R.W., Klemm, G., Gruttner, H.P., Harms, D., Winterpacht, A. and Zabel, B.U. (1998) Novel WT1 mutation, 11p LOH, and t(7;12)(p22;q22) chromosomal translocation identified in a Wilms' tumor case. Genes Chromosomes Cancer, 21, 347-350.
35. Karnik, P., Paris, M., Williams, B.R., Casey, G., Crowe, J. and Chen, P. (1998) Two distinct tumor suppressor loci within chromosome 1p15 implicated in breast cancer progression and metastasis. Hum. Mol. Genet., 7, 895-903.
36. Karnes, P.S., Tran, T.N., Cui, M.Y., Bogenmann, E., Shimada, H. and Ying, K.L. (1991) Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY, t(11;22)(p15.5;q11.23). Cancer Genet. Cytogenet., 56, 31-38.
37. Kamik, P., Chen, P., Paris, M., Yeger, H. and Williams, B.R. (1998) Loss of heterozygosity at chromosome 11p15 in Wilms' tumors: identification of two independent regions. Oncogene, 17, 237-240.
38. Mertens, F., Johansson, B., Höglund, M. and Mitelman, F. (1997) Chromosomal imbalance maps of malignant solid tumors: a cytogenetic survey of 3185 neoplasms. Cancer Res., 57, 2765-2780.
39. Mitelman, F., Mertens, F. and Johansson, B. (1998) A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nature Genet., 15(special issue), 417-474.
40. Lee, M.P., Hu, R.J., Johnson, L.A. and Feinberg, A.P. (1997) Human KvLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet., 15, 181-185.
41. Hoovers, J.M.N., Kalikin, L.M., Johnson, L.A., Alders, M., Redeker, B., Law, D.J., Bliek, J., Steenman, M., Benedict, M., Wiegant, J. et al. (1995) Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc. Natl Acad. Sci. USA, 92, 12456-12460.
42. Koi, M., Johnson, L.A., Kalikin, L.M., Little, P.F.R., Nakamura, Y. and Feinberg, A.P. (1993) Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Science, 260, 361-364.
43. Lee, M.P., Brandenburg, S., Landes, G.M., Adams, M., Miller, G. and Feinberg, A.P. (1999) Two novel genes in the center of the 11p15 imprinted domain escape genomic imprinting. Hum. Mol. Genet., 8, 683-690.
44. Sedlacek, Z., Konecki, D.S., Siebenhaar, R., Kioschis, P. and Poustka, A. (1993) Direct selection of DNA sequences conserved between species. Nucleic Acids Res., 21, 3419-3425.
45. Nakai, K. and Kanehisa, M. (1992). A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics, 14, 897-911.
46. Hirokawa, T., Boon-Chieng, S. and Mitaku, S. (1998) SOSUI: classification and secondary structure prediction system for membrane protein. Bioinformatics, 14, 378-379.
47. Hunter, J.J., Shao, J., Smutko, J.S., Dussault, B.J., Nagle, D.L., Woolf, E.A., Holmgren, L.M., Moore, K.J. and Shyjan, A.W. (1998) Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1). Genomics, 54, 116-123.
48. Wes, P.D., Chevesich, J., Jeromin, A., Rosenberg, C., Stetten, G. and Montell, C. (1995) TRPC1, a human homolog of a Drosophila store-operated channel. Proc. Natl Acad. Sci. USA, 92, 9652-9656.
49. 2+) channel protein (TRPC7) highly expressed in brain. Genomics, 54, 124-131.
50. 2+) entry. Cell, 85, 661-671.
51. Bennett, V. (1992) Ankyrins. Adaptors between diverse plasma membrane proteins and the cytoplasm. J. Biol. Chem., 267, 8703-8706.
52. Caterina, M.J., Schumacher, M.A., Tominaga, M., Rosen, T.A., Levine, J.D. and Julius, D. (1997) The capsaicin receptor: a heat-activated ion channel in the pain pathway. Nature, 389, 816-824.
53. Kanzaki, M., Zhang, Y.Q., Mashima, H., Li, L., Shibata, H. and Kojima, I. (1999) Translocation of a calcium-permeable cation channel induced by insulin-like growth factor-I. Nature Cell Biol., 1, 165-170.
54. LeRoith, D., Werner, H., Neuenschwander, S., Kalebic, T. and Helman, L.J. (1995) The role of the insulin-like growth factor-I receptor in cancer. Ann. N Y Acad. Sci., 766,402-408.
55. Xu, X.Z.S., Li, H.S., Guggino, W.B. and Montell, C. (1997) Coassembly of TRP and TRPL produces a distinct store-operated conductance. Cell, 89, 1155-1164.
56. Phillips, A.M., Bull, A. and Kelly, L.E. (1992) Identification of a Drosophila gene encoding a calmodulin-binding protein with homology to the trp phototransduction gene. Neuron, 8, 631-642.
57. Tsiokas, L., Arnould, T., Zhu, C., Kim, E., Walz, G. and Sukhatme, V.P. (1999) Specific association of the gene product of PKD2 with the TRPC1 channel. Proc. Natl Acad. Sci. USA, 96, 3934-3939.
58. Gabow, P.A. (1993) Autosomal dominant polycystic kidney disease. N. Engl. J. Med., 29, 332-342.
59. Spangenberg, C., Winterpacht, A., Zabel, B.U. and Löbbert, R.W. (1998) Cloning and characterization of a novel gene (TM7SF1) encoding a putative seven-pass transmembrane protein that is upregulated during kidney development. Genomics, 48, 178-185.
60. Winterpacht, A., Endele, S., Enklaar, T., Fuhry, M. and Zabel, B. (1996) Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-q13.3. Cytogenet. Cell Genet., 75, 132-135.