Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.:A Unique and Common Splice Junction Mutation Causing Exon Skipping in the Protective Protein/Carboxy
スポンサーリンク
概要
- 論文の詳細を見る
cDNA and genomic sequences coding for human protective protein/carboxypeptidase were isolated and characterized. The cDNA sequence was identical with that reported by Galjart et al. (Cell 54: 755, 1988). Two clones hybridizing cDNA were isolated from the human chromosome 20 specific bacteriophage library, comprising the first 5 exons and the next 3 exons, respectively. The exon-intron organization was determined for these clones. Molecular analysis of Japanese adult-form galactosialidosis patients revealed a common gene rearrangement: an A-to-G base substitution at the position 3 by downstream of exon 7, resulting in skipping of this exon in mRNA. All five cases in this study were found to be homozygous for this mutation. We conclude that this is a common gene mutation among the Japanese galactosialidosis patients of late onset (Japanese type).
- 日本学士院の論文
著者
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Sakuraba Hitoshi
Department Of Analytical Biochemistry Meiji Pharmaceutical University
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Takano Takako
Department Of Hygiene And Public Health Teikyo University School Of Medicine
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Shimmoto Michie
Department Of Clinical Genetics The Tokyo Metropolitan Institute Of Medical Science Tokyo Metropolit
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Fukuhara Yukiko
Department Of Tumor Cell Biology The Tokyo Metropolitan Institute Of Medical Science
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Oshima Akihiro
Department Of Nuclear Engineering Tokai University
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Suzuki Yoshiyuki
Department Of Applied Physics Tohoku University
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SHIMMOTO Michie
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science
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OSHIMA Akihiro
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science
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TAKANO Takako
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science
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SUZUKI Yoshiyuki
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science
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