Article
A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.
Molecular genetics and metabolism - 1 Feb 2001
Nakamura K, Fukao T, Perez-Cerda C, Luque C, Song X Q, Naiki Y, Kohno Y, Ugarte M, Kondo N
Abstract excerpt
Most mutation-related aberrant splicing occurs in the conserved splice-acceptor and -donor sites and some exonic mutations also affect splicing. We identified and characterized a point mutation (380C>T) in a Spanish patient (GK25) with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. GK25 is a homozygote of 380C>T, which activates a cryptic splice-acceptor site 5 bases downstream from 380C>T within exon 5,...
Topics
- Acetyl-CoA C-Acyltransferase
- Binding Sites
- Cysteine
- DNA Mutational Analysis
- Exons
- Female
- Fibroblasts
- Gene Deletion
- Humans
- Immunoblotting