Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S

Y. N. Teng, T. R. Wang, W. L. Hwu, S. P. Lin, G. J. Lee-Chen*

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

21 引文 斯高帕斯(Scopus)

摘要

DNA screening for mutations in the α-L-iduronidase (IDUA) gene was performed in a Chinese mucopolysaccharidosis type IH/S patient. The patient had two different mutations: the maternal allele has L346R (t-g transversion in codon 346) and the paternal allele has 388-3c-g (c-g transversion at position -3 of the 3' splice site of intron 2). In transfected COS-7 cells, L346R showed no appreciable IDUA activity (0.4% of normal activity), although it did not cause an apparent reduction in IDUA mRNA or protein level. The 388-3c-g mutation profoundly affects normal splicing leading to a very unstable mRNA. Expression of the IDUA cDNA containing the mutated acceptor splice site showed trace amounts of enzyme activity (1.6% of normal activity). The results provide further support for the importance of cytosine at the -3 position in RNA processing.

原文英語
頁(從 - 到)131-136
頁數6
期刊Clinical Genetics
57
發行號2
DOIs
出版狀態已發佈 - 2000

ASJC Scopus subject areas

  • 遺傳學
  • 遺傳學(臨床)

指紋

深入研究「Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S」主題。共同形成了獨特的指紋。

引用此