Work

Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.

Year: 1990

Type: article

Abstract: 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).

Source: Proceedings of the Japan Academy Series B

DOI: 10.2183/pjab.66.217

Authors: Michie SHIMMOTO, Takako TAKANO, Yukiko FUKUHARA, Akihiro OSHIMA, Hitoshi SAKURABA, Yoshiyuki SUZUKI

Institution: Tokyo Metropolitan Institute of Medical Science

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Ono Medical Research Foundation