Genetic analysis of twenty-two patients with Cockayne syndrome

Human Genetics

Volumn 97, Issue 4, 1996, Pages 418-423

  Stefanini, Miria ^a   Fawcett, Heather ^a   Botta, Elena ^a   Nardo, Tiziana ^a   Lehmann, Alan R ^b  

^a CNR   (Italy)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RNA;

ARTICLE; CELL FUSION; CHILD; CLINICAL ARTICLE; COCKAYNE SYNDROME; CONTROLLED STUDY; FEMALE; FETUS; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; HUMAN; HUMAN CELL; INFANT; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SYNTHESIS; SCHOOL CHILD; ULTRAVIOLET IRRADIATION;

EID: 0029972595     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02267059     Document Type: Article

References (27)

1. Bootsma D, Hoeijmakers JHJ (1993) Engagement with transcription. Nature 363:114-115
2. Bootsma D, Hoeijmakers JHJ (1994) The molecular basis of nucleotide excision repair syndromes. Mutat Res 307:15-23
3. Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JHJ, Botta E, Stefanini M, et al (1995) Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. Am J Hum Genet 56:167-174
4. Cleaver JE, Volpe JPG, Charles WC, Thomas GH (1994) Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome. Prenat Diagn 14:921-928
5. Hanawalt P, Donahue BA, Sweder KS (1994) Collision or collusion? Curr Biol 4:518-521
6. Henning KA, Li L, Iyer N, Mc Daniel L, Reagan MS. Legerski R, Schultz RA et al (1995) The Cockayne syndrome complementation group A (CSA) gene encodes a WD-repeat protein that interacts with CSB protein and with a subunit of RNA polymerase II TFIIH. Cell 82: 555-564
7. Lehmann AR (1982) Three complementation groups in Cockayne syndrome. Mutat Res 106:347-356
8. Lehmann AR (1987) Cockayne's syndrome and trichothiodystrophy: defective repair without cancer. Cancer Rev 7:82-103
9. Lehmann AR, Francis AJ, Giannelli F (1985) Prenatal diagnosis of Cockayne's syndrome. Lancet 1:486-488
10. Lehmann AR, Thompson AF, Harcourt SA, Stefanini M, Norris PG (1993) Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. J Med Genet 30:679-683
11. Lehmann AR, Bootsma D, Clarkson SG, Cleaver JE, Mc Alpine PJ, Tanaka K, Thompson LH, Wood RD (1994) Nomenclature of human DNA repair genes. Mutat Res 315:41-42
12. Miyauchi H, Horio T, Akaeda T, Asada Y, Chang HR, Ishizaki K, Ikenaga M (1994) Cockayne syndrome in two adult siblings. J Am Acad Dermatol 30:329-335
13. Nance MA, Berry SA (1992) Cockayne syndrome: review of 140 cases. Am J Med Genet 42:68-84
14. Selby CP. Sancar A (1993) Molecular mechanism of transcription-repair coupling. Science 260:53-58
15. Selby CP, Witkin EM, Sancar A (1991) Escherichia coli mfd mutant deficient in "mutation frequency decline" lacks strand-specific repair: in vitro complementation with purified coupling factor. Proc Natl Acad Sci USA 88:11574-11578
16. Stefanini M, Lagomarsini P, Arlett CF, Mannoni S, Borrone C, Crovato F, Trevisan G, et al (1986) Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. Hum Genet 74:107-112
17. Stefanini M, Lagomarsini P, Giorgi R, Nuzzo F (1987) Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity. Mutat Res 191:117-119
18. Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G (1992) DNA repair investigations in nine Italian patients affected by trichothiodystrophy. Mutat Res 273:119-125
19. Stefanini M, Lagomarsmi P, Giliani S, Nardo T, Botta E, Peserico A. Kleijer WJ, et al (1993) Genetic heterogeneity of excision repair defect associated with trichothiodystrophy. Carcinogenesis 14:1101-1105
20. Tanaka K, Kawai Y, Kumahara Y, Ikenaga M, Okada Y (1981) Genetic complementation groups in Cockayne syndrome. Somat Cell Genet 7:445-455
21. Troelstra C, Odijk H, Wit J de. Westerveld A, Thompson LH, Bootsma D, Hoeijmakers JHJ (1990) Molecular cloning and biological characterization of the human DNA excision repair gene ERCC-6. Mol Cell Biol 10:5806-5813
22. Troelstra C, Van Gool A, Wit J de, Vermeulen W, Bootsma D, Hoeijmakers JHJ (1992) ERCC6, a member of a subfamily of putative helicase, is involved in Cockayne's syndrome and preferential repair of active genes. Cell 71:939-953
23. Van Hoffen A, Natarajan AT, Mayne LV, Van Zeeland AA, Mullenders LHF, Venema J (1993) Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. Nucleic Acids Res 21:5890-5895
24. Venema J, Mullenders LHF, Natarajan AT, Zeeland AA van, Mayne LV (1990) The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in trascriptionally active DNA. Proc Natl Acad Sci USA 87: 4707-4711
25. Vermeulen W, Stefanini M, Giliani S, Hoeijmakers JHJ, Bootsma D (1991) Xeroderma pigmentosum complementation group H falls into complementation group D. Mutat Res 255:201-208
26. Vermeulen W, Jaeken J, Jaspers NGJ, Bootsma D, Hoeijmakers JHJ (1993) Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet 53: 185-192
27. Vermeulen W, Scott RJ, Rodgers S, Muller HJ, Cole J, Arlett CF, Kleijer WJ, et al (1994) Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. Am J Hum Genet 54:191-200