A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila

A suppressor mutation, D53, of the held-up(2) allele of the Drosophila melanogaster Troponin I (wupA) gene is described. D53, a missense mutation, S185F, of the tropomyosin-2, Tm2, gene fully suppresses all the phenotypic effects of held-up(2), including the destructive hypercontraction of the indir...

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Veröffentlicht in:Molecular biology of the cell 2001-05, Vol.12 (5), p.1529-1539
Hauptverfasser: Naimi, B, Harrison, A, Cummins, M, Nongthomba, U, Clark, S, Canal, I, Ferrus, A, Sparrow, J C
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container_issue 5
container_start_page 1529
container_title Molecular biology of the cell
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creator Naimi, B
Harrison, A
Cummins, M
Nongthomba, U
Clark, S
Canal, I
Ferrus, A
Sparrow, J C
description A suppressor mutation, D53, of the held-up(2) allele of the Drosophila melanogaster Troponin I (wupA) gene is described. D53, a missense mutation, S185F, of the tropomyosin-2, Tm2, gene fully suppresses all the phenotypic effects of held-up(2), including the destructive hypercontraction of the indirect flight muscles (IFMs), a lack of jumping, the progressive myopathy of the walking muscles, and reductions in larval crawling and feeding behavior. The suppressor restores normal function of the IFMs, but flight ability decreases with age and correlates with an unusual, progressive structural collapse of the myofibrillar lattice starting at the center. The S185F substitution in Tm2 is close to a troponin T binding site on tropomyosin. Models to explain suppression by D53, derived from current knowledge of the vertebrate troponin-tropomyosin complex structure and functions, are discussed. The effects of S185F are compared with those of two mutations in residues 175 and 180 of human alpha-tropomyosin 1 which cause familial hypertrophic cardiomyopathy (HCM).
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subjects Amino Acid Sequence
Animals
Behavior, Animal - physiology
Drosophila melanogaster - genetics
Drosophila melanogaster - growth & development
Drosophila melanogaster - physiology
Flight, Animal - physiology
Humans
Larva - physiology
Male
Molecular Sequence Data
Muscle Contraction - physiology
Muscle, Skeletal - physiology
Muscle, Skeletal - ultrastructure
Mutation, Missense - genetics
Phenotype
Sequence Alignment
Suppression, Genetic - genetics
Tropomyosin - genetics
Tropomyosin - metabolism
Troponin I - genetics
Troponin I - metabolism
title A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila
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