PMID- 1715688
OWN - NLM
STAT- MEDLINE
DCOM- 19911002
LR  - 20190612
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 179
IP  - 1
DP  - 1991 Aug 30
TI  - Evidence for a structural mutation (347Ala to Thr) in a German family with 
      3-ketothiolase deficiency.
PG  - 124-9
AB  - The molecular basis of 3-ketothiolase deficiency (3KTD) was examined in a 3KTD 
      family. Immunochemical analyses showed that mitochondrial acetoacetyl-CoA 
      thiolase (T2) biosynthesized in the patient's fibroblasts (GK06) was unstable and 
      that the parents and brother were obligatory carriers of 3KTD. When sequencing 
      the PCR-amplified patient's T2 cDNA, we noted a G to A replacement which caused 
      347Ala to Thr substitution of the mature T2 subunit. Transfection analysis 
      revealed that this substitution resulted in an instability of the T2 protein. 
      Analyses of the T2 cDNA and gene of the family indicated that the patient was a 
      compound heterozygote; the allele that derived from the mother had a point 
      mutation (347Ala to Thr) and the other allele from the father has a mutation 
      which would abolish the T2 gene expression. This report is apparently the first 
      definition of a mutant allele for 3KTD, at the gene level.
FAU - Fukao, T
AU  - Fukao T
AD  - Department of Pediatrics, Gifu University School of Medicine, Japan.
FAU - Yamaguchi, S
AU  - Yamaguchi S
FAU - Tomatsu, S
AU  - Tomatsu S
FAU - Orii, T
AU  - Orii T
FAU - Frauendienst-Egger, G
AU  - Frauendienst-Egger G
FAU - Schrod, L
AU  - Schrod L
FAU - Osumi, T
AU  - Osumi T
FAU - Hashimoto, T
AU  - Hashimoto T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (Oligonucleotide Probes)
RN  - 2ZD004190S (Threonine)
RN  - 63231-63-0 (RNA)
RN  - EC 2.3.1.16 (Acetyl-CoA C-Acyltransferase)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Acetyl-CoA C-Acyltransferase/deficiency/*genetics
MH  - *Alanine
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cell Line
MH  - Child
MH  - Female
MH  - Germany
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Oligonucleotide Probes
MH  - Polymerase Chain Reaction/methods
MH  - RNA/genetics/isolation & purification
MH  - Restriction Mapping
MH  - *Threonine
EDAT- 1991/08/30 00:00
MHDA- 1991/08/30 00:01
CRDT- 1991/08/30 00:00
PHST- 1991/08/30 00:00 [pubmed]
PHST- 1991/08/30 00:01 [medline]
PHST- 1991/08/30 00:00 [entrez]
AID - 0006-291X(91)91343-B [pii]
AID - 10.1016/0006-291x(91)91343-b [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1991 Aug 30;179(1):124-9. doi: 
      10.1016/0006-291x(91)91343-b.