Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene

Genomics

Volumn 55, Issue 1, 1999, Pages 21-27

  Hassock, Sheila ^a   Vetrie, David ^a   Giannelli, Francesco ^a  

^a GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ARTICLE; CLINICAL GENETICS; DNA DETERMINATION; DNA POLYMORPHISM; DYSKERATOSIS CONGENITA; EXON; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE;

EID: 0032962316     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5600     Document Type: Article

References (31)

1. Birnboim H. C., Doly J. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 7:1979;1513-1523.
2. Curnutte J. T., Hopkins P. J., Kuhl W., Beutler E. Studying X inactivation. Lancet. 339:1992;749.
3. Devriendt K., Matthijs G., Legius E., Schollen E., Blockmans D., van Geet C., Degreef H., Cassiman J. J., Fryns J. P. Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am. J. Hum. Genet. 60:1997;581-587.
4. Dokal I. Dyskeratosis congenita: An inherited bone marrow failure syndrome. Br. J. Haematol. 92:1996;775-779.
5. Fleischmann R. D., Adams M. D., White O., Clayton R. A., Kirkness E. F., Kerlavage A. R., Bult C. J., Tomb J.-F., Dougherty B. A., Merrick J. M., McKenney K., Sutton G., FitzHugh W., Fields C., Gocayne J. D., Scott J., Shirley R., Liu L.-I., Glodek A., Kelley J. M., Weidman J. F., Philips C. A., Spriggs T., Hedblom E., Cotton M. D. Whole-genome random sequencing and assembly ofHaemophilus influenzae. Science. 269:1995;496-512.
6. Heinemeyer T., Wingender E., Reuter I., Hermjakob H., Kel A. E., Kel O. V., Ignatieva E. V., Ananko E. A., Podkolodnaya O. A., Kolpakov F. A., Podkolodny N. L., Kolchanov N. A. Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res. 26:1998;362-367.
7. Heiss N. S., Knight S. W., Vulliamy T. J., Klauk S. M., Wiemann S., Mason P. J., Poustka A., Dokal I. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat. Genet. 19:1998;32-38.
8. Ish-Horowicz D., Burke J. F. Rapid and efficient cosmid cloning. Nucleic Acids Res. 9:1981;2989-2993.
9. Jiang W., Middleton K., Yoon H.-J., Fouquet C., Carbon J. An essential yeast protein, CBF5p, binds in vitro to centromeres and microtubules. Mol. Cell. Biol. 13:1993;4884-4893.
10. Kaneko T., Sato S., Kotani H., Tanaka A., Asamizu E., Nakamura Y., Miyajima N., Hirosawa M., Sugiura M., Sasamoto S. Sequence analysis of the genome of the unicellular cyanobacteriumSynechocystis. DNA Res. 3:1996;109-136.
11. Lafontaine D. L. J., Bousquet-Antonelli C., Henry Y., Caizergues-Ferrer M., Tollervey D. The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase. Genes Dev. 12:1998;527-537.
12. Larin Z., Monaco A. P., Lehrach H. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl. Acad. Sci. USA. 88:1991;4123-4127.
13. Lennon G., Auffray C., Polymeropoulos M., Soares M. B. The I.M.A.G.E. Consortium: An integrated molecular analysis of genomes and their expression. Genomics. 33:1996;151-152.
14. Meier U. T. Comparison of the rat nucleolar protein Nopp140 with its yeast homolog SRP40. J. Biol. Chem. 271:1996;19376-19384.
15. Meier U. T., Blobel G. A nuclear localization signal binding protein in the nucleolus. J. Cell. Biol. 111:1990;2235-2245.
16. Meier U. T., Blobel G. Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell. 70:1992;127-138.
17. Meier U. T., Blobel G. NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria. J. Cell. Biol. 127:1994;1505-1514.
18. Metzenberg A. B., Gitschier J. The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3′ to the factor VIII gene. Hum. Mol. Genet. 1:1992;97-101.
19. Nurse K., Wrzesinski J., Bakin A., Lane B. G., Ofengand J. Purification, cloning, and properties of the tRNA pseudouridine 55 synthase fromEscherichia coli. RNA. 1:1995;102-112.
20. Quandt K., Frech K., Karas H., Wingender E., Werner T. MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res. 23:1995;4878-4884.
21. Riley J., Butler R., Ogilvie D., Finniear R., Jenner D., Powell S., Anand R., Smith J. C., Markham A. F. A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res. 18:1990;2887-2890.
22. Roberts R. G., Coffey A. J., Bobrow M., Bentley D. R. Determination of the exon structure of the distal portion of the dystrophin gene by vectorette PCR. Genomics. 13:1992;942-950.
23. Ruff P., Speicher D. W., Husain-Chishti A. Molecular identification of a major palmitoylated erythrocyte membrane protein containing thesrc. Proc. Natl. Acad. Sci. USA. 88:1991;6595-6599.
24. Sage A. E., Vasil A. I., Vasil M. L. Molecular characterisation of mutants affected in the osmoprotectant-dependent induction of phospholipase C inPseudomonas aeruginosa. Mol. Microbiol. 23:1997;43-56.
25. Schuler G. D., Boguski M. S., Stewart E. A., Stein L. D., Gyapay G., Rice K., White R. E., Rodriguez-Tome P., Aggarwal A., Bajorek E., Bentolila S., Birren B. B., Butler A., Castle A. B., Chiannilkulchai N., Chu A., Clee C., Cowles S., Day P. J., Dibling T., Drouot N., Dunham I., Duprat S., East C., Hudson T. J. A gene map of the human genome. Science. 274:1996;540-546.
26. Sealey P. G., Whittaker P. A., Southern E. M. Removal of repeated sequences from hybridization probes. Nucleic Acids Res. 13:1985;1905-1922.
27. Shazand K., Tucker J., Grunberg-Manago M., Rabinowitz J. C., Leighton T. Similar organisation of the nusA-infB operon inBacillus subtilisEscherichia coli. J. Bacteriol. 175:1993;2880-2887.
28. Sideras P., Nilsson L., Islam K. B., Quintana I. Z., Freihof L., Rosen A., Juliusson G., Hammarstrom L., Smith C. I. Transcription of unrearranged IgH chain genes in human B cell malignancies. Biased expression of genes encoded within the first duplication unit of the IgH chain locus. J. Immunol. 149:1992;244-252.
29. Simmons D. Cellular Interactions and Development. 1993;IRL Press, Oxford.
30. Smahi A., Hyden-Granskog C., Peterlin B., Vabres P., Heuertz S., Fulchignoni-Lataud M. C., Dahl N., Labrune P., Le Marec B., Piussan C. The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28. Hum. Mol. Genet. 3:1994;273-278.
31. Vulliamy T. J., Knight S. W., Dokal I., Mason P. J. Skewed X-inactivation in carriers of X-linked dyskeratosis congenita. Blood. 90:1997;2213-2216.