|Title:||Identification and Characterization of-3c-G Acceptor Splice Site Mutation in Human Alpha-L-Iduronidase Associated with Mucopolysaccharidosis Type Ih/S||Authors:||WANG, TSO-REN
|Keywords:||acceptor splice site;alpha-L-iduronidase;MPS IH/S;novel mutations;MOLECULAR-GENETICS;CDNA ISOLATION||Issue Date:||2000||Journal Volume:||v.57||Journal Issue:||n.2||Start page/Pages:||131-136||Source:||CLINICAL GENETICS||Abstract:||
DNA screening for mutations in the alpha-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.
|Appears in Collections:||醫學系|
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