Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products

Genomics

Volumn 61, Issue 3, 1999, Pages 268-276

  Kitao, Saori ^a   Lindor, Noralane M ^b   Shiratori, Miwa ^a   Furuichi, Yasuhiro ^a   Shimamoto, Akira ^a  

^a AGENE Research Institute   (Japan)

^b MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE;

ARTICLE; CHROMOSOME 8Q; EXON; HELA CELL; HUMAN; HUMAN CELL; INTRON; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; ROTHMUND THOMSON SYNDROME; TRANSCRIPTION INITIATION;

EID: 0032736140     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.5959     Document Type: Article

References (54)

1. Bonny C., Cooker L. A., Goldberg E. Deoxyribonucleic acid-protein interactions and expression of the human testis-specific lactate dehydrogenase promoter: Transcription factor Sp1 plays a major role. Biol. Reprod. 58:1998;754-759.
2. Chen D., Rothenberg E. V. Molecular basis for developmental changes in interleukin-2 gene inducibility. Mol. Cell. Biol. 13:1993;228-237.
3. Der Kaloustian V. M., McGill J. J., Vekemans M., Kopelman H. R. Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. Am. J. Med. Genet. 37:1990;336-339.
4. Fukuchi K., Martin G. M., Monnat R. J. Jr. Mutator phenotype of Werner syndrome is characterized by extensive deletions. Proc. Natl. Acad. Sci. USA. 86:1989;5893-5897.
5. Furuichi Y., Shatkin A. J. Characterization of cap structures. Methods Enzymol. 180:1989;164-176.
6. Gangloff S., McDonald J. P., Bendixen C., Arthur L., Rothstein R. The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: A potential eukaryotic reverse gyrase. Mol. Cell. Biol. 14:1994;8391-8398.
7. German J. Bloom syndrome: A Mendelian prototype of somatic mutational disease. Medicine. 72:1993;393-406.
8. Goto M., Miller R. W., Ishikawa Y., Sugano H. Excess of rare cancers in Werner's syndrome (adult progeria). Cancer Epidemiol. Biomakers Prev. 5:1996;239-246.
9. Gray M. D., Wang L., Youssoufian H., Martin G. M., Oshima J. Werner helicase is localized to transcriptionally active nucleoli of cycling cells. Exp. Cell Res. 242:1998;487-494.
10. Hanada K., Ukita T., Kohno Y., Saito K., Kato J., Ikeda H. RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli. Proc. Natl. Acad. Sci. USA. 94:1997;3860-3865.
11. Imamura O., Ichikawa K., Yamabe Y., Goto M., Sugawara M., Furuichi Y. Cloning of a mouse homologue of the human Werner syndrome gene and assignment to 8A4 by fluorescence in situ hybridization. Genomics. 41:1997;298-300.
12. Kaneko H., Orii K. O., Matsui E., Shimozawa N., Fukao T., Matsumoto T., Shimamoto A., Furuichi Y., Hayakawa S., Kasahara K., Kondo N. BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Biochem. Biophys. Res. Commun. 240:1997;348-353.
13. Kerr B., Ashcroft G. S., Scott D., Horan M. A., Ferguson M. W. J., Donnai D. Rothmund-Thomson syndrome: Two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. J. Med. Genet. 33:1996;928-934.
14. Kitao S., Ohsugi I., Ichikawa K., Goto M., Furuichi Y., Shimamoto A. Cloning of two new human helicase genes of the RecQ family: Biological significance of multiple species in higher eukaryotes. Genomics. 54:1998;443-452.
15. Kitao S., Shimamoto A., Goto M., Miller R. W., Smithson W. A., Lindor N. M., Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat. Genet. 22:1999;82-84.
16. Kusano K., Berres M. E., Engels W. R. Evolution of the RECQ family of helicases: A Drosophila homolog, Dmblm, is similar to the human Bloom syndrome gene. Genetics. 151:1999;1027-1039.
17. Kusano K., Sunohara Y., Takahashi N., Yoshikura H., Kobayashi I. DNA double-strand break repair: Genetic determinants of flanking crossing-over. Proc. Natl. Acad. Sci. USA. 91:1994;1173-1177.
18. Lim S. K., Maquat L. E. Human beta-globin mRNAs that harbor a nonsense codon are degraded in murine erythroid tissues to intermediates lacking regions of exon I or exons I and II that have a cap-like structure at the 5′ termini. EMBO J. 11:1992;3271-3278.
19. Lindor N. M., Devries E. M. G., Michels V. V., Schad C. R., Jalal S. M., Donovan K. M., Smithson W. A., Kvols L. K., Thibodeau S. N., Dewald G. W. Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism. Clin. Genet. 49:1996;124-129.
20. Lindor N. M., Furuichi Y., Kitao S., Shimamoto A., Arndt C., Jalal S. Rothmund-Thomson syndrome due to RecQ4 helicase mutations: A case report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am. J. Med. Genet. 1999.
21. Marciniak R. A., Lombard D. B., Johnson F. B., Guarente L. Nucleolar localization of the Werner syndrome protein in human cells. Proc. Natl. Acad. Sci. USA. 95:1998;6887-6892.
22. Maruyama K., Sugano S. Oligo-capping: A simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Gene. 138:1994;171-174.
23. Matsumoto T., Imamura O., Goto M., Furuichi Y. Characterization of the nuclear localization signal in the DNA helicase involved in Werner's syndrome. Int. J. Mol. Med. 1:1998;71-76.
24. Matsumoto T., Shimamoto A., Goto M., Furuichi Y. Impaired nuclear localization of defective DNA helicases in Werner's syndrome. Nat. Genet. 16:1997;335-336.
25. Miozzo M., Castorina P., Riva P., Dalpra L., Fuhrman Conti A. M., Volpi L., Hoe T. S., Khoo A., Wiegant J., Rosenberg C., Larizza L. Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome. Int. J. Cancer. 77:1998;504-510.
26. Moss C., Bacon C. J., Mueller R. F. "Isolated" radial ray defect may be due to Rothmund-Thomson syndrome. Clin. Genet. 38:1990;318-319.
27. Muhlrad D., Parker R. Premature translational termination triggers mRNA decapping. Nature. 370:1994;578-581.
28. Mushegian A. R., Bassett D. E. Jr., Boguski M. S., Bork P., Koonin E. V. Positionally cloned human disease genes: Patterns of evolutionary conservation and functional motifs. Proc. Natl. Acad. Sci. USA. 94:1997;5831-5836.
29. Nakayama H., Nakayama K., Nakayama R., Irino N., Nakayama Y., Hanawalt P. C. Isolation and genetic characterization of a thymineless death-resistant mutant of Escherichia coli K12: Identification of a new mutation (recQ1) that blocks the RecF recombination pathway. Mol. Gen. Genet. 195:1984;474-480.
30. Ogburn C. E., Oshima J., Poot M., Chen R., Hunt K. E., Gollahon K. A., Rabinovitch P. S., Martin G. M. An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants. Hum. Genet. 101:1997;121-125.
31. Okada M., Goto M., Furuichi Y., Sugimoto M. Differential effects of cytotoxic drugs on mortal and immortalized B-lymphoblastoid cell lines from normal and Werner's syndrome patients. Biol. Pharm. Bull. 21:1998;235-239.
32. Orstavik K. H., McFadden N., Hagelsteen J., Ormerod E., Van der Hagen C. B. Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. J. Med. Genet. 31:1994;570-572.
33. Poot M., Gollahon K. A., Rabinovitch P. S. Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase. Hum. Genet. 104:1999;10-14.
34. Puranam K. L., Kennington E., Sait S. N., Shows T. B., Rochelle J. M., Seldin M. F., Blackshear P. J. Chromosomal localization of the gene encoding the human DNA helicase RECQL and its mouse homologue. Genomics. 26:1995;595-598.
35. Rothmund A. Uber cataracten in verbindung mit einer eigenthumlichen hautdegeneration. Arch. Klin. Exp. Ophthal. 4:1868;159-182.
36. Seki T., Wang W. S., Okumura N., Seki M., Katada T., Enomoto T. cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level. Biochim. Biophys. Acta. 1398:1998;377-381.
37. Shimamoto A., Kitao S., Ichikawa K., Suzuki N., Yamabe Y., Imamura O., Tokutake Y., Satoh M., Matsumoto T., Kuromitsu J., Kataoka H., Sugawara K., Sugawara M., Sugimoto M., Goto M., Furuichi Y. A unique human gene that spans over 230 kb in the human chromosome 8p11-12 and codes multiple family proteins sharing RNA-binding motifs. Proc. Natl. Acad. Sci. USA. 93:1996;10913-10917.
38. Shinya A., Nishigori C., Moriwaki S., Takebe H., Kubota M., Ogino A., Imamura S. A case of Rothmund-Thomson syndrome with reduced DNA repair capacity. Arch. Dermatol. 129:1993;332-336.
39. Shiratori M., Sakamoto S., Suzuki N., Tokutake Y., Kawabe Y., Enomoto T., Sugimoto M., Goto M., Matsumoto T., Furuichi Y. Detection by epitope-defined monoclonal antibodies of Werner DNA helicases in the nucleoplasm and their upregulation by cell transformation and immortalization. J. Cell Biol. 144:1999;1-9.
40. Smith P. J., Paterson M. C. Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund-Thomson syndrome patients. Mutat. Res. 94:1982;213-228.
41. Srivastava M., McBride O. W., Fleming P. J., Pollard H. B., Burns A. L. Genomic organization and chromosomal localization of the human nucleolin gene. J. Biol. Chem. 265:1990;14922-14931.
42. Suzuki N., Shimamoto A., Imamura O., Kuromitsu J., Kitao S., Goto M., Furuichi Y. DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system. Nucleic Acids Res. 25:1997;2973-2978.
43. Tahara H., Tokutake Y., Maeda S., Kataoka H., Watanabe T., Satoh M., Matsumoto T., Sugawara M., Ide T., Goto M., Furuichi Y., Sugimoto M. Abnormal telomere dynamics of B-lymphoblastoid cell strains from Werner's syndrome patients transformed by Epstein-Barr virus. Oncogene. 15:1997;1911-1920.
44. Thomson M. S. Poikiloderma congenitale. Br. J. Dermatol. 48:1936;221-234.
45. Umezu K., Nakayama H. RecQ DNA helicase of Escherichia coli. Characterization of the helix-unwinding activity with emphasis on the effect of single-stranded DNA-binding protein. J. Mol. Biol. 230:1993;1145-1150.
46. Umezu K., Nakayama K., Nakayama H. Escherichia coli RecQ protein is a DNA helicase. Proc. Natl. Acad. Sci. USA. 87:1990;5363-5367.
47. Vennos E. M., Collins M., James W. D. Rothmund-Thomson syndrome: Review of the world literature. J. Am. Acad. Dermatol. 27:1992;750-762.
48. Vennos E. M., James W. D. Rothmund-Thomson syndrome. Dermatol. Clin. 13:1995;143-150.
49. Wang W. S., Seki M., Yamaoka T., Seki T., Tada S., Katada T., Fujimoto H., Enomoto T. Cloning of two isoforms of mouse DNA helicase Q1/RecQL cDNA: Alpha form is expressed ubiquitously and beta form specifically in the testis. Biochim. Biophys. Acta. 1443:1998;198-202.
50. Watt P. M., Louis E. J., Borts R. H., Hickson I. D. Sgs1: A eukaryotic homolog of E. coli RecQ that interacts with topoisomerase II in vivo and is required for faithful chromosome segregation. Cell. 81:1995;253-260.
51. Yamabe Y., Shimamoto A., Goto M., Yokota J., Sugawara M., Furuichi Y. Sp1-mediated transcription of the Werner helicase gene is modulated by Rb and p53. Mol. Cell. Biol. 18:1998;6191-6200.
52. Yamabe Y., Sugimoto M., Satoh M., Suzuki N., Sugawara M., Goto M., Furuichi Y. Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem. Biophys. Res. Commun. 236:1997;151-154.
53. Yamagata K., Kato J., Shimamoto A., Goto M., Furuichi Y., Ikeda H. Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: Implication for genomic instability in human diseases. Proc. Natl. Acad. Sci. USA. 95:1998;8733-8738.
54. Ying K. L., Oizumi J., Curry C. J. R. Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. J. Med. Genet. 27:1990;258-260.