WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1071-1082

  Stec, Ingrid ^a   Wright, Tracy J ^b   Van Ommen, Gert Jan B ^a   De Boer, Piet A J ^c   Van Haeringen, Arie ^a   Moorman, Antoon F M ^c   Altherr, Michael R ^b   Den Dunnen, Johan T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b LOS ALAMOS NATIONAL LABORATORY   (United States)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

HYBRID PROTEIN; IMMUNOGLOBULIN HEAVY CHAIN; ZINC FINGER PROTEIN;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION 4; CHROMOSOME TRANSLOCATION; EMBRYO; EMBRYO DEVELOPMENT; EXON; FACE DYSMORPHIA; GENE EXPRESSION; GENE MAPPING; GENE STRUCTURE; HUMAN; HUMAN CELL; IN SITU HYBRIDIZATION; MOUSE; MULTIPLE MYELOMA; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYADENYLATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; WOLF HIRSCHHORN SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BASE COMPOSITION; BLOTTING, NORTHERN; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 4; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, IMMUNOGLOBULIN; GENES, NEOPLASM; HUMANS; IMMUNOGLOBULIN HEAVY CHAINS; MALE; MICE; MOLECULAR SEQUENCE DATA; MULTIPLE MYELOMA; PROTEIN BIOSYNTHESIS; PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; SYNDROME; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 0031779421     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1071     Document Type: Article

References (48)

1. Wolf, U., Reinwein, H., Porsch, R., Schroter, R. and Baitsch, H. (1965) Defizienz an den kurzen Armen eines Chromosoms nr. 4. Humangenetik, 1, 397-413.
2. Hirschhorn, K., Cooper, H.L. and Firschein, I.L. (1965) Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik, 1, 479-482.
3. Estabrooks, L.L., Rao, K.W., Driscoll, D.A., Crandall, B.F., Dean, J.C.S., Ikonen, E., Korf, B. and Aylsworth, A.S. (1995) Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am. J. Med. Genet., 57, 581-586.
4. Wilson, M.G., Towner, J.W., Coffin, G.S., Ebbin, A.J., Siris, E. and Brager, P. (1981) Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome. Hum. Genet., 59, 297-307.
5. Pitt, D.B., Rogers, J.G. and Danks, D.M. (1984) Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome? Am. J. Med. Genet., 19, 307-313.
6. Clemens, M., Martsolf, J.T., Rogers, J.G., Mowery-Rushton, P., Surti, U. and McPherson, E. (1996) Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion. Am. J. Med. Genet., 66, 95-100.
7. Kant, S.G., Van Haeringen, A., Bakker, E., Stec, I., Donnai, D., Mollevanger, P., Beverstock, G.C., Lindemann-Kusse, M.C. and Van Ommen, G.J.B. (1997) Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p16.3. J. Med. Genet., 34, 569-572.
8. Altherr, M.R., Denison, K., Clemens, M., Quarrel, O. and Wright, T.J. (1996) Molecular overlap in Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes. Am. J. Hum. Genet., 59, Suppl., A23.
9. Donnai, D. (1986) Brief clinical report: a further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation. Am. J. Med. Genet., 24, 29-32.
10. Rubinstein, J.H. and Taybi, H. (1963) Broad thumbs and toes and facial abnormalities. Am. J. Dis. Child., 105, 588-608.
11. Smith, A.C.M., McGavran, L., Robinson, J., Waldstein, G., Macfarlane, J., Zonona, J., Reiss, J., Lahr, M., Allen, L. and Magenis, E. (1986) Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am. J. Med. Genet., 24, 393-414.
12. Shprintzen, R.J., Goldberg, R.B., Young, D. and Wolford, L. (1981) The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics, 67, 167-172.
13. Wright, T.J., Ricke, D.O., Denison, K., Abmayr, S., Cotter, P.D., Hirschhorn, K., Keinaenen, M., McDonald-McGinn, Somer, M., Spinner, N., Yang-Feng, T., Zackai, E. and Altherr, M.R. (1997) A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region. Hum. Mol. Genet., 6, 317-324.
14. Baxendale, S., MacDonald, M.E., Mott, R., Francis, F., Lin, C., Kirby, S.F., James, M., Zehetner, G., Hummerich, H., Valdes, J., Collins, F.S., Deaven, L.J., Gusella, J.F., Lehrach, H. and Bates, G.P. (1993) A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene. Nature Genet., 4, 181-186.
15. Tripoulas, N., LaJeunesse, D., Gildea, J. and Shearn, A. (1996) The Drosophila ash1 gene product, which is localized at specific sites on polytene chromosomes, contains a SET domain and a PHD finger. Genetics, 143, 913-928.
16. Tschiersch, B., Hofmann, A., Krauss, V., Dorn, R., Korge, G. and Reuter, G. (1994) The protein encoded by the Drosophila position-effect variegation suppressor gene Su(var)3-9 combines domains of antagonistic regulators of homeotic gene complexes. EMBO J., 13, 3822-3831.
17. Roberts, R.G., Coffey, A.J., Borrow, M. and Bentley, D.R. (1993) Exon structure of the human dystrophin gene. Genomics, 16, 536-538.
18. Miyaki, M., Konishi, M., Tanaka, K., Kikuchi-Yanoshita, R., Muraoka, M., Tasuno, M., Igari, T., Koike, M., Chiba, M. and Mori, T. (1997) Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet., 17, 271-272.
19. Nakamura, H., Izumoto, Y., Kambe, H., Kuroda, T., Mori, T., Kawamura, K., Yamamoto, H. and Kishimoto, T. (1994) Molecular cloning of complementary DNA for a novel human hepatoma-derived growth factor. Its homology with high mobility group-1 protein. J. Biol. Chem., 269, 25143-25149.
20. Friedman, L.S., Ostermeyer, E.A., Lynch, E.D., Welcsh, P., Szabo, C.I., Meza, J.E., Anderson, L.A., Dowd, P., Lee, M.K. and Rowell, S.E. (1995) 22 genes from chromosome 17q21 : cloning, sequencing, and characterization of mutations in breast cancer families and tumors. Genomics, 25, 256-263.
21. Baxevanis, A.D. and Landsman, D. (1995) The HMG-1 box protein family: classification and functional relationships. Nucleic Acids Res., 11, 1604-1613.
22. Jantzen, H.M., Admon, A., Bell, S.P. and Tjian, R. (1990) Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins. Nature, 344, 830-836.
23. Hayashi, T., Hayashi, H. and Iwai, K. (1989) Tetrahymena HMG nonhistone chromosomal protein. Isolation and amino acid sequence lacking the N- and C-terminal domains of vertebrate HMG 1. J. Biochem., 105, 577-581.
24. Wilson, R., Ainscough, R., Anderson, K., Baynes, C., Berks, M., Bonfield, J., Burton, J., Connell, M., Copsey, T., Cooper, J., Coulson, A., Craxton, M., Dear, S., Du, Z., Durbin, R., Favello, A., Fulton, L., Gardner, A., Green, P., Hawkins, T., Hillier, L., Jier, M., Johnston, L., Jones, M., Kershaw, J., Kirsten, J., Laister, N., Latreille, P., Lightning, J., Lloyd, C., McMurray, A., Mortimore, B., O'Callaghan, M., Parsons, J., Percy, C., Rifken, L., Roopra, A., Saunders, D., Shownkeen, R., Smaldon, N., Smith, A., Sonnhammer, E., Staden, R., Sulston, J., Thierry-Mieg, J., Thomas, K., Vaudin, M., Vaughan, K., Waterston, R., Watson, A., Weinstock, L., Wilkinson-Sproat, J. and Wohldman, P. (1994) 2.2 Mb of contiguous nucleotide sequence from chromosome III of C.elegans. Nature, 368, 32-38.
25. Bowser, R. (1996) Assignment of the human FAC1 gene to chromosome 17q24 by fluorescence in situ hybridization. Genomics, 38, 455-457.
26. Kim, S.S., Chen, Y.M., O'Leary, E., Witzgall, R., Vidal, M. and Bonventre, J.V. (1996) A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins. Proc. Natl Acad. Sci. USA, 24, 15299-15304.
27. Seelig, H.P., Moosbrugger, I.,Ehrfeld, H., Renz, M. and Genth, E. (1995) The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation. Arthritis Rheum., 38, 1389-1399.
28. Nagamine, K., Peterson, P., Scott, H.S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K.J.E., Lalioti, M.D., Mullis, P.E., Antonarakis, S.E., Kawasaki, K., Asakawa, S., Ito, F. and Shimuzu (1997) Positional cloning of the APECED gene. Nature Genet., 17, 393-398.
29. Finnish-German APECED consortium (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc finger domains. Nature Genet., 17, 399-403.
30. Gibbons, R.J., Bachoo, S., Picketts, D.J., Aftimos, S., Asenbauer, B., Bergoffen, J.A., Berry, S.A., Dahl, N., Fryer, A., Keppler, K., Kurosawa, K., Levin, M.L., Masuno, M., Neri, G., Pierpont, M.A., Slaney, S.F. and Higgs, D.R. (1997) Mutations in transcription regulator ATRX establish the functional significance of a PHD-like domain. Nature Genet., 17, 147-148.
31. Le Douarin, B., Zechel, C., Gamier, J.-M., Lutz, Y., Tora, L., Pierrat, B., Heery, D., Gronemeyer, H., Chambon, P. and Losson, R. (1995) The N-terminal part of TIF1, a putative mediator of the ligand dependent activation function (AF-2) of nuclear receptors, is fused to B-raf in the oncogenic protein T18. EMBO J., 14, 2020-2033.
32. Gu, Y., Nakamura, T., Adler, H., Prasad, R., Canaani, O., Cimino, G., Croce, C.M. and Canaani, E. (1992) The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene. Cell, 71, 701-708.
33. Mazo, A.M., Huang, D.-H., Mozer, B.A. and David, I.B. (1990) The trithorax gene, a trans-acting regulator of the bithorax complex in Drosophila, encodes a protein with zinc-binding domains. Proc. Natl Acad. Sci. USA, 87, 2112-2116.
34. Abel, K.J., Brody, L.C., Valdes, J.M., Erdos, M.R., Mc Kinley, D.R., Castilla, R.H., Merajver, S.D., Couch, F.J., Friedman, L.S., Ostermeyer, E.A., Lynch, E.D., King, M.-C, Welcsh, P.L., Osborne-Lawrence, S., Spillman, M., Bowcock, A.M., Collins, F.S. and Weber, B.L. (1996) Characterization of EZH1, a human homolog of Drosophila enhancer of zeste near BRCA1. Genomics, 37, 161-171.
35. Jones, R.S. and Gelbart, W.M. (1993) The Drosophila Polycomb-group gene Enhancer of zeste contains a region with sequence similarity to trithorax. Mol. Cell. Biol., 13, 6357-6366.
36. Tkachuk, D.C., Kohler, S. and Cleary, M.L. (1992) Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias. Cell, 13, 691-700.
37. Djabali, M., Selleri, P., Parry, P., Bower, M., Young, B. and Evans, G.A. (1992) A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukaemias. Nature Genet., 1, 113-118.
38. Johnston, M., Andrews, S., Brinkman, R., Cooper, J., Ding, H., Dover, J., Du, Z., Favello, A., Fulton, L., Gattung, S., Geisel, C., Kirsten, J., Kucaba, T., Hillier, L., Jier, M., Johnston, L., Langston, Y., Latreille, P., Louis, E.J., Macri, C., Mardis, E., Menezes, S., Mouser, L., Nhan, M., Rifkin, L., Riles, L., St Peter, H., Trevaskis, K., Vaughan, K., Vignati, D., Wilcox, L., Wohldman, P., Waterston, R., Wilson, R. and Vaudin, M. (1994) Complete nucleotide sequence of Saccharomyces cerevisiae chromosome VIII. Science, 265, 2077-2082.
39. Obermaier, B., Gassenhuber, J., Piravandi, E. and Domdey, H. (1995) Sequence analysis of a 78.6 kb segment of the left of Saccharomyces chromosome II. Yeast, 15, 1103-1112.
40. Sheam, A., Hersberger, E. and Hersbeger, G. (1987) Genetic studies of mutations at two loci of Drosophila melanogaster which cause a wide variety of homeotic transformations. Wilhelm Roux's Arch. Dev. Biol., 196, 231-242.
41. Nislow, C., Ray, E. and Pillus, L. (1997) SET1, a yeast member of the Trithorax family, functions in transcriptional silencing and diverse cellular processes. Mol. Biol. Cell, 8, 2421-2436.
42. Richelda, R., Ronchetti, D., Baldini, L., Cro, L., Viggiano, L., Marzella, R., Rocchi, M., Otsuki, T., Lombardi, L., Maiolo, A.T. and Neri, A. (1997) A novel chromosomal translocation t(4;14) (p16.3;q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. Blood, 90, 4062-4070.
43. Chesi, M., Nardini, E., Brents, L.A., Schrock, E., Ried, T., Kuehl, W.M. and Bergsagel, P.L. (1997) Frequent translocation t(4;14) (p16.3;q32) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nature Genet., 16, 260-264.
44. Lung, C.-C. and Chan, E.K.L. (1996) Simplifying 5′ RACE in the hunt for full-length cDNAs. Trends Genet., 12, 389-391.
45. Moorman, A.F.M., Vermeulen, J.L.M., Koban, M.U., Schwartz, K., Lamers, W.H. and Boheler, K.R. (1995) Patterns of expression of sarcoplasmic reticulum calcium ATPase and phospholamba mRNAs during rat heart development. Circ. Res., 76, 616-625.
46. Moorman, A.F.M., de Boer, P.A.J, Vermeulen, J.L.M. and Lamers, W.H. (1993) Practical aspects of radio-isotopic in situ hybridization on RNA. Histochem. J., 25, 251-266.
47. Altschul, S.F., Gish, W., Miller, W., Meyers, E.W. and Lipman, D. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
48. Uberbacher, E.C. and Mural, R.J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl Acad. Sci. USA, 88, 11261-11265.