Three novel mutations responsible for Cockayne syndrome group A

Yan Ren, Masafumi Saijo, Yoshimichi Nakatsu, Hiroshi Nakai, Masaru Yamaizumi, Kiyoji Tanaka

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by UV-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the upstream region including exon 1 of the CSA gene. Our results indicate that a rapid and reliable diagnosis of CSA mutations could be achieved in CS-A patients by PCR or PCR-RFLP and that the Q106P mutation could alter the propeller structure of the CSA protein which is important for the formation of the CSA protein complex.

Original languageEnglish
Pages (from-to)93-102
Number of pages10
JournalGenes and Genetic Systems
Volume78
Issue number1
DOIs
Publication statusPublished - Feb 1 2003

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Cockayne Syndrome
Mutation
Exons
Founder Effect
Polymerase Chain Reaction
Amino Acid Motifs
Amino Acid Substitution
Heterozygote
Glutamine
Proline
Intellectual Disability
DNA Repair
Restriction Fragment Length Polymorphisms
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics

Cite this

Three novel mutations responsible for Cockayne syndrome group A. / Ren, Yan; Saijo, Masafumi; Nakatsu, Yoshimichi; Nakai, Hiroshi; Yamaizumi, Masaru; Tanaka, Kiyoji.

In: Genes and Genetic Systems, Vol. 78, No. 1, 01.02.2003, p. 93-102.

Research output: Contribution to journalArticle

Ren, Y, Saijo, M, Nakatsu, Y, Nakai, H, Yamaizumi, M & Tanaka, K 2003, 'Three novel mutations responsible for Cockayne syndrome group A', Genes and Genetic Systems, vol. 78, no. 1, pp. 93-102. https://doi.org/10.1266/ggs.78.93
Ren, Yan ; Saijo, Masafumi ; Nakatsu, Yoshimichi ; Nakai, Hiroshi ; Yamaizumi, Masaru ; Tanaka, Kiyoji. / Three novel mutations responsible for Cockayne syndrome group A. In: Genes and Genetic Systems. 2003 ; Vol. 78, No. 1. pp. 93-102.
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