Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

Yoriyasu Hasegawa, Hiroshi Kawame, Hiroyuki Ida, Toya Ohashi, Yoshikatsu Eto

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

Abstract

The arylsulfatase A gene of a Japanese patient who has the juvenile form of metachromatic leukodystrophy, and who has been previously reported as a heterozygote of the 1070A mutation, was investigated. Nucleotide sequence analysis revealed the presence of a previously unreported C-to-T substitution (designated 2330T), 22 nucleotides downstream from the exon 8 splice acceptor site. Although the 2330T mutation itself results in a single amino acid substitution of Thr409 by Ile, the analysis of the patient's cDNA fragments amplified by the reverse transcription-polymerase chain reaction revealed that transcripts of the 2330T allele were spliced both normally and aberrantly. The aberrant splicing produced a 27-nucleotide deletion from the usual exon 8 splice acceptor site. These results indicate that the new mutation is a rare case of an exon mutation affecting splice site selection. The mechanism of this aberrant pre-mRNA splicing is discussed.

Original languageEnglish
Pages (from-to)415-420
Number of pages6
JournalHuman Genetics
Volume93
Issue number4
DOIs
Publication statusPublished - 1994 Apr 1
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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