PMID- 10462489
OWN - NLM
STAT- MEDLINE
DCOM- 19991001
LR  - 20211124
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 262
IP  - 2
DP  - 1999 Aug 27
TI  - Structural analysis of the titin gene in hypertrophic cardiomyopathy:
      identification of a novel disease gene.
PG  - 411-7
AB  - Hypertrophic cardiomyopathy (HCM) is characterized by ventricular hypertrophy
      accompanied by myofibrillar disarrays. Molecular genetic analyses have revealed
      that mutations in 8 different genes cause HCM. Mutations in these disease genes, 
      however, could be found in about half of HCM patients, suggesting that there are 
      other unknown disease gene(s). Because the known disease genes encode sarcomeric 
      proteins expressed in the cardiac muscle, we searched for a disease-associated
      mutation in the titin gene in 82 HCM patients who had no mutation in the known
      disease genes. A G to T transversion in codon 740, from CGC to CTC, replacing
      Arginine with Leucine was found in a patient. This mutation was not found in more
      than 500 normal chromosomes and increased the binding affinity of titin to
      alpha-actitin in the yeast two-hybrid assay. These observations suggest that the 
      titin mutation may cause HCM in this patient via altered affinity to
      alpha-actinin.
CI  - Copyright 1999 Academic Press.
FAU - Satoh, M
AU  - Satoh M
AD  - Second Department of Internal Medicine, Tokyo Medical and Dental University,
      Tokyo, 113-8519, Japan.
FAU - Takahashi, M
AU  - Takahashi M
FAU - Sakamoto, T
AU  - Sakamoto T
FAU - Hiroe, M
AU  - Hiroe M
FAU - Marumo, F
AU  - Marumo F
FAU - Kimura, A
AU  - Kimura A
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 (Connectin)
RN  - 0 (Muscle Proteins)
RN  - 0 (TTN protein, human)
RN  - 11003-00-2 (Actinin)
RN  - EC 2.7.- (Protein Kinases)
SB  - IM
MH  - Actinin/metabolism
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cardiomyopathy, Hypertrophic/*genetics
MH  - Connectin
MH  - Exons
MH  - Humans
MH  - Introns
MH  - Molecular Sequence Data
MH  - Muscle Proteins/*genetics/metabolism
MH  - *Mutation
MH  - Protein Binding
MH  - Protein Kinases/*genetics/metabolism
MH  - Sarcomeres/chemistry
MH  - Sequence Homology, Amino Acid
MH  - Species Specificity
EDAT- 1999/08/27 00:00
MHDA- 1999/08/27 00:01
CRDT- 1999/08/27 00:00
PHST- 1999/08/27 00:00 [pubmed]
PHST- 1999/08/27 00:01 [medline]
PHST- 1999/08/27 00:00 [entrez]
AID - 10.1006/bbrc.1999.1221 [doi]
AID - S0006-291X(99)91221-4 [pii]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Aug 27;262(2):411-7. doi:
      10.1006/bbrc.1999.1221.