A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay

British Journal of Dermatology

Volumn 152, Issue 5, 2005, Pages 1030-1032

  Muller F B ^a   Tsianakas, A ^b   Kuwert, C ^b   Korge, B P ^a   Hunzelmann, N ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

Author keywords

Ageing; Mutation; Progeroid disorder; Wemer syndrome; WRN

Indexed keywords

GENE PRODUCT; MESSENGER RNA; RECQ HELICASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DNA SEQUENCE; GENE; GENE MUTATION; GENETIC STABILITY; GENETIC TRANSCRIPTION; GERMANY; HUMAN; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA STABILITY; WERNER SYNDROME; WRN GENE;

BASE SEQUENCE; CODON, NONSENSE; DNA HELICASES; DNA, COMPLEMENTARY; FACIES; GENE DELETION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; RECQ HELICASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; WERNER SYNDROME;

EID: 18944407481     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06483.x     Document Type: Article

References (12)

1. Moser MJ, Oshima J, Monnat RJ Jr. WRN mutations in Werner syndrome. Hum Mutat 1999; 13:271-9.
2. Oshima J. The Werner syndrome protein: an update. Bioessays 2000; 22:894-901.
3. Yu CE, Oshima J, Fu YH et al. Positional cloning of the Werner's syndrome gene. Science 1996; 272:258-62.
4. Thur J, Nischt R, Krieg T, Hunzelmann N. Quantitative analysis of alpha 1 (I) procollagen transcripts in vivo by competitive polymerase chain reaction. Matrix Biol 1996; 15:49-52.
5. Yu CE, Oshima J, Wijsman EM et al. Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. Am J Hum Genet 1997; 60:330-41.
6. Zigrino P, Drescher C, Mauch C. Collagen-induced proMMP-2 activation by MT1-MMP in human dermal fibroblasts and the possible role of α2β1 integrins. Eur J Cell Biol 2000; 80:68-77.
7. Kyng KJ, May A, Kolvraa S, Bohr VA. Gene expression profiling in Werner syndrome closely resembles that of normal aging. Proc Natl Acad Sci USA 2003; 100:12259-64.
8. Goto M, Yamabe Y, Shiratori M, Okada M et al. Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products. Hum Genet 1999; 105:301-7.
9. Matsumoto T, Shimamoto A, Goto M, Furuichi Y. Impaired nuclear localization of defective DNA helicases in Werner's syndrome. Nat Genet 1997; 16:335-6.
10. Yamabe Y, Sugimoto M, Satoh M et al. Down-regulation of the defective transcripts of the Werner's syndrome gene in the cells of patients. Biochem Biophys Res Commun 1997; 236:151-4.
11. Oshima J, Yu CE, Piussan C et al. Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet 1996; 5:1909-13.
12. Meisslitzer C, Ruppitsch W, Weirich-Schwaiger H et al. Werner syndrome: characterization of mutations in the WRN gene in an affected family. Eur J Hum Genet 1997; 5:364-70.