Three novel mutations responsible for Cockayne syndrome group A
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概要
- 論文の詳細を見る
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.
- 2003-02-01
著者
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Tanaka Kiyoji
Graduate School of Comprehensive Human Sciences, Sports Medicine, University of Tsukuba
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Tanaka Kiyoji
Graduate School Of Frontier Biosciences Osaka University
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Masafumi Saijo
Graduate School Of Frontier Biosciences Osaka University
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Tanaka Kiyoji
Graduate School Of Comprehensive Human Sciences University Of Tsukuba
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REN Yan
Graduate School of Frontier Biosciences, Osaka University
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SAIJO Masafumi
Graduate School of Frontier Biosciences, Osaka University
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NAKATSU Yoshimichi
Graduate School of Frontier Biosciences, Osaka University
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NAKAI Hiroshi
Department of Pediatrics, Hachinohe National Hospital
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YAMAIZUMI Masaru
Institute of Molecular Embryology and Genetics, Kumamoto University
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Ren Yan
Laboratories for Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University
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Nakatsu Yoshimichi
Laboratories for Organismal Biosystems, Graduate School of Frontier Biosciences, Osaka University
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Ren Yan
Graduate School Of Frontier Biosciences Osaka University
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Tanaka K
Himeji Inst. Technol. Hyogo
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Yamaizumi Masaru
Institute Of Molecular Embryology And Genetics Kumamoto University
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Yamaizumi Masaru
Institute Of Molecular Embryology And Genetics
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Nakatsu Yoshimichi
Graduate School Of Frontier Biosciences Osaka University
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Saijo Masafumi
Institute For Molecular And Cellular Biology Osaka University
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Tanaka Kiyoji
Graduate Division Of Health And Sport Science University Of Tsukuba
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Nakai Hiroshi
Department Of Pediatrics Hachinohe National Hospital
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Nakai Hiroshi
Department Of Pediatric Surgery Osaka Medical Center For Maternal And Child Health
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Nakai Hiroshi
Department Of Civil Engineering Osaka City University
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Nakai Hiroshi
Department Of Biochemistry And Molecular Biology Georgetown University Medical Center
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