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

研究成果: Article査読

21 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)415-420
ページ数6
ジャーナルHuman Genetics
93
4
DOI
出版ステータスPublished - 1994 4 1
外部発表はい

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

フィンガープリント

「Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル