X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Nature Genetics

Volumn 19, Issue 1, 1998, Pages 32-38

  Heiss, Nina S ^a   Knight, Stuart W ^b   Vulliamy, Tom J ^b   Klauck, Sabine M ^a   Wiemann, Stefan ^a   Mason, Philip J ^b   Poustka, Annemarie ^a   Dokal, Inderjeet ^b  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; LYSINE; NUCLEOTIDE; PROTEIN; SYNTHETASE;

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; GENE; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HYBRIDIZATION; MISSENSE MUTATION; NUCLEOLUS; NUCLEOTIDE SEQUENCE; PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SOUTHERN BLOTTING;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL CYCLE PROTEINS; CELL NUCLEOLUS; DNA, COMPLEMENTARY; DYSKERATOSIS CONGENITA; FUNGAL PROTEINS; GENE DELETION; HUMANS; HYDRO-LYASES; LINKAGE (GENETICS); MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; RATS; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA-BINDING PROTEINS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; X CHROMOSOME;

EID: 0031799895     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0598-32     Document Type: Article

References (41)

1. Connor, J. M., Gatherer, D., Gray, F.C., Pirrit, L.A. & Affara, N.A. Assignment of the gene for dyskeratosis congenita to Xq28. Hum. Genet. 72, 348-351 (1986).
2. Arngrimsson, R., Dokal, I., Luzzatto, L. & Connor, J.-M. Dyskeratosis congenita: three additional families show linkage to a locus in Xq28. J. Med. Genet. 30, 618-619 (1993).
3. Drachtman, R.A. & Alter, B.P. Dyskeratosis congenita: Clinical and genetic heterogeneity: Report of a a new case and review of the literature. Am. J. Pediatr. Hemat. Oncol. 14, 297-304 (1992).
4. Dokal, I. Dyskeratosis congenita: An inherited bone marrow failure syndrome. Br. J. Haematol. 92, 775-779 (1996).
5. Dokal, I. & Luzzatto, L. Dyskeratosis Congenita is a chromosomal instability disorder. Leukemia and Lymphoma 15, 1-7 (1994).
6. Coulthard, S., Chase, A., Pickard, J., Goldman, J. & Dokal, I. Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes. Br. J. Heamat. 97, 51-12 (1997).
7. Dokal, I. et al. Dyskeratosis Congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements. Blood 80, 3090-3096 (1992).
8. Devriendt, K. et al. Skewed X-chromosome inactivation in female carriers of Dyskeratosis Congenita. Am. J. Hum. Genet. 60, 581-587 (1997).
9. Vulliamy, T.J., Knight, S.W., Dokal, I. & Mason, P.J. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood 90, 2213-2216 (1997).
10. Knight, S.W. et al. Fine mapping of the dyskeratosis congenita locus in Xq28. J. Med. Genet. 33, 993-995 (1996).
11. Bione, S. et al. Transcriptional organisation of a 450-kb region of the human × chromosome in Xq28. Proc. Natl. Acad. Sci. USA 90, 10977-10981 (1993).
12. Sedlacek, Z. et al. Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. Hum. Mol. Genet. 11, 1865-1869 (1993).
13. Coy, J.F., Kioschis, P., Sedlacek, Z. & Poustka, A. Identification of tissue specific expressed sequences in Xq27.3 to Xqter. Mammalian Genome 5, 131-137 (1994).
14. Heiss, N.S., Rogner, U.C., Kioschis, P., Korn, B. & Poustka, A. Transcriptional mapping in a 700 kb region around the DXS52 locus in Xq28: Isolation of six novel transcripts and a novel ATPase isoform (hPMCAS). Genome Res. 6, 478-491 (1996).
15. Rogner, U.C. et al. Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28. Genome Res. 6, 922-934 (1996).
16. Chen, E.Y., et al. Long-range sequence analysis in Xq28: Thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. Hum. Mol. Genet. 5, 659-668 (1996).
17. Bione, S. et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet. 8, 323-327 (1994).
18. Bione, S. et al. A novel X-linked gene, G4.5, is responsible for Barth Syndrome. Nature Genet. 12, 385-389 (1996).
19. Coy, J.F. et al. Molecular cloning of tissue-specific transcripts of a transketolase related gene: Implications for the evolution of new vertebrate genes. Genomics 32, 309-316 (1996).
20. Das, S. Metzenberg, A., Pai, G.S. & Gitschier, J. Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. Am. J. Hum. Genet. 54, 922-925 (1994).
21. Heiss, N.S. et al. Genomic structure of a novel LIM domain gene in Xq28 and comparisons with the orthologous murine transcript. Genomics 43, 329-338 (1997).
22. Heiss, N.S, & Poustka, A. Genomic structure of a novel chloride channel gene, CLIC2, in Xq28. Genomics 45, 224-228 (1997).
23. Kenwrick, S., Levinson, B., Taylor, S., Shapiro, A. & Gitschier, J. Isolation and sequence of two genes associated with a CpG island 5′ of the factor VIII gene. Hum. Mol. Genet. 1, 179-186 (1992).
24. Parrish, J.E. et al. A muscle-specific DNase I-like gene in human Xq28. Hum. Mol. Genet. 9, 1557-1564 (1995).
25. Heiss, N.S., Korn, B., Rogner, U.C. & Poustka, A. Generation of specific exon trap probes from YACs by using Alu long-range PCR products. Methods Mol. Cell. Biol. 5, 337-344 (1995).
26. Metzenberg, A.B. & Gitschier, J. The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3′ of the factor VIII gene. Hum. Mol. Genet. 1, 97-101 (1992).
27. Rogner, U. et al. A YAC clone map spanning 7.5 megabases of human chromosome band Xq28. Hum. Mol. Gen. 3, 2137-2146 (1994).
28. Korn, B. et al. A strategy for the selection of transcribed sequences in the Xq28 region. Hum. Mol. Genet. 1, 235-242 (1992).
29. Becker, H. F., Motorin, Y., Planta, R.J. & Grosjean, H. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation the formation of ψ55 in both mitochondrial and cytoplasmic tRNAs. Nucleic Acids Res. 25, 4493-4499 (1997).
30. Meier, U.T. & Blobel, G. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J. Cell Biol. 127, 1505-1514 (1994).
31. Dixon, J. et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins Syndrome. Nature Genet. 12, 130-136 (1996).
32. Jiang, W., Middleton, K., Yoon, H.-J., Fouquet, C. & Carbon, J. An essential yeast protein, CBFSp, binds in vitro to centromeres and microtubules. Mol. Cell. Biol. 13, 4884-4893 (1993).
33. Cadwell, C., Yoon, H.-J., Zebrarjadian, Y. & Carbon, J. The yeast nucleolar protein Cbf5p is involved in rRNA biosynthesis and interacts genetically with the RNA polymerase I transcription factor RRN3. Mol. Cell. Biol. 17, 6175-6183 (1997).
34. Meier, U.T., Blobel, G. Nopp140 shuttles on tracks between nucleoplasm and cytoplasm. Cell 70, 127-138 (1992).
35. Koonin, E.V. Pseudouridine synthases: four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases. Nucleic Acids Res. 24, 2411-2415 (1996).
36. Winkler, A.A., Bobok, A., Zonneveld, B.J.M., Steensma, H.Y. & Hooykaas, P.J.J. The lysine-rich C-terminal repeats of the centromere-binding factor 5 (CbfS) of Kluyveromyces lactis are not essential for function. Yeast, in press.
37. Gautier, T., Bergès, T., Tollervey, D. & Hurt, E. Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis. Mol. Cell. Biol. 17, 7088-7098 (1997).
38. Wilgenbus, K.K., Mincheva, A., Korn, B., Lichter, P. & Poustka, A. IRS-long range (LR) PCR: A simple method for efficient amplification of human genomic DNA from complex sources. Methods Mol. Cell Biol. 5, 214-221 (1995).
39. Church, D.M. et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98-100 (1994).
40. Frohman, M.A. Rapid amplification of complementary DNA ends for generation of full-length complementary DNAs: thermal RACE. Methods Enzymol. 218, 340-56 (1993).
41. Cross, N.C.P. et al. Minimal residual disease after allogeneic bone marrow transplantation for chronic myeloid leukaemia in first chronic phase: correlations with acute graft-versus-host disease and relapse. Br. J. Haemat. 84, 67-74 (1993).