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PMID:11846417

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Citation

Itoh-Satoh, M, Hayashi, T, Nishi, H, Koga, Y, Arimura, T, Koyanagi, T, Takahashi, M, Hohda, S, Ueda, K, Nouchi, T, Hiroe, M, Marumo, F, Imaizumi, T, Yasunami, M and Kimura, A (2002) Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291:385-93

Abstract

Dilated cardiomyopathy (DCM) is a heterogeneous cardiac disease characterized by ventricular dilatation and systolic dysfunction. Recent genetic studies have revealed that mutations in genes for cardiac sarcomere components lead to DCM. The cardiac sarcomere consists of thick and thin filaments and a giant protein, titin. Because one of the loci of familial DCM was mapped to the region of the titin gene, we searched for titin mutations in the patients and identified four possible disease-associated mutations. Two mutations, Val54Met and Ala743Val, were found in the Z-line region of titin and decreased binding affinities of titin to Z-line proteins T-cap/telethonin and alpha-actinin, respectively, in yeast two-hybrid assays. The other two mutations were found in the cardiac-specific N2-B region of titin and one of them was a nonsense mutation, Glu4053ter, presumably encoding for a truncated nonfunctional molecule. These observations suggest that titin mutations may cause DCM in a subset of the patients.

Links

PubMed Online version:10.1006/bbrc.2002.6448

Keywords

Actinin/metabolism; Amino Acid Sequence; Animals; Cardiomyopathy, Dilated/genetics; Cardiomyopathy, Dilated/metabolism; Chickens; DNA Mutational Analysis; Genetic Predisposition to Disease; Genetic Variation; Humans; Middle Aged; Molecular Sequence Data; Muscle Proteins/chemistry; Muscle Proteins/genetics; Muscle Proteins/metabolism; Mutation; Protein Kinases/chemistry; Protein Kinases/genetics; Protein Kinases/metabolism; Protein Structure, Tertiary; Rabbits; Sarcomeres/metabolism; Sequence Alignment; Two-Hybrid System Techniques

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:TELT

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8WZ42

F

Seeded From UniProt

complete

HUMAN:ACTN2

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8WZ42

F

Seeded From UniProt

complete

HUMAN:ACTN2

enables

GO:0031432: titin binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8WZ42

F

Seeded From UniProt

complete

HUMAN:ACTN2

enables

GO:0070080: titin Z domain binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8WZ42

F

Seeded From UniProt

complete

HUMAN:TITIN

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:O15273

F

Seeded From UniProt

complete

HUMAN:TITIN

enables

GO:0005515: protein binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:P35609

F

Seeded From UniProt

complete

HUMAN:TITIN

involved_in

GO:0045214: sarcomere organization

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TITIN

enables

GO:0042805: actinin binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:P35609

F

Seeded From UniProt

complete

HUMAN:TITIN

enables

GO:0031433: telethonin binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:O15273

F

Seeded From UniProt

complete

HUMAN:TITIN

enables

GO:0008307: structural constituent of muscle

ECO:0000315: mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:TITIN

involved_in

GO:0003300: cardiac muscle hypertrophy

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TITIN

involved_in

GO:0055003: cardiac myofibril assembly

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TITIN

involved_in

GO:0060048: cardiac muscle contraction

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:TELT

enables

GO:0031432: titin binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8WZ42

F

Seeded From UniProt

complete

HUMAN:TELT

enables

GO:0070080: titin Z domain binding

ECO:0000353: physical interaction evidence used in manual assertion

UniProtKB:Q8WZ42

F

Seeded From UniProt

complete


See also

References

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