Drosophila indirect flight muscle specific Act88F actin mutants as a model system for studying congenital myopathies of the human ACTA1 skeletal muscle actin gene

2010 ◽  
Vol 20 (6) ◽  
pp. 363-374 ◽  
Author(s):  
Sarah E. Haigh ◽  
Sheetal S. Salvi ◽  
Maria Sevdali ◽  
Meg Stark ◽  
David Goulding ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Flight Muscle ◽  
Model System ◽  
Indirect Flight Muscle ◽  
Actin Gene ◽  
Muscle Actin ◽  
Congenital Myopathies ◽  
Muscle Actin Gene

Heterogeneity of nemaline myopathy cases with skeletal muscle ?-actin gene mutations

2004 ◽  
Vol 56 (1) ◽  
pp. 86-96 ◽  
Author(s):  
Pankaj B. Agrawal ◽  
Corinne D. Strickland ◽  
Charles Midgett ◽  
Ana Morales ◽  
Daniel E. Newburger ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Gene Mutations ◽  
Nemaline Myopathy ◽  
Actin Gene ◽  
Muscle Actin ◽  
Muscle Actin Gene

Nucleotide sequence of the rat skeletal muscle actin gene

Nature ◽  
1982 ◽  
Vol 298 (5877) ◽  
pp. 857-859 ◽  
Author(s):  
R. Zakut ◽  
M. Shani ◽  
D. Givol ◽  
S. Neuman ◽  
D. Yaffe ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Nucleotide Sequence ◽  
Actin Gene ◽  
Muscle Actin ◽  
Rat Skeletal Muscle ◽  
Muscle Actin Gene

Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation

2010 ◽  
Vol 20 (8) ◽  
pp. 531-533 ◽  
Author(s):  
Werner Stenzel ◽  
Stefan Prokop ◽  
Wolfram Kress ◽  
Stephanie Huppmann ◽  
Andrea Loui ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Actin Filament ◽  
Actin Gene ◽  
Muscle Actin ◽  
Muscle Actin Gene

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)

2015 ◽  
Vol 25 (5) ◽  
pp. 388-391 ◽  
Author(s):  
C.A. Sewry ◽  
J.L. Holton ◽  
D.J. Dick ◽  
F. Muntoni ◽  
M.G. Hanna
Keyword(s):  
Skeletal Muscle ◽  
Actin Gene ◽  
Muscle Actin ◽  
Muscle Actin Gene

Actin genes in Xenopus and their developmental control

Development ◽  
1985 ◽  
Vol 89 (Supplement) ◽  
pp. 125-136
Author(s):  
J. B. Gurdon ◽  
T. J. Mohun ◽  
S. Brennan ◽  
S. Cascio
Keyword(s):  
Skeletal Muscle ◽  
Early Development ◽  
Actin Gene ◽  
Muscle Actin ◽  
Cell Type ◽  
Developmental Control ◽  
Normal Contact ◽  
Actin Genes ◽  
Cardiac Actin ◽  
Cell Type Specific

The results summarized here have established the temporal and regional activation of three kinds of Xenopus actin genes. The cardiac and skeletal muscle actin genes are among the first cell-type-specific genes to be expressed in early development. The first transcripts to be synthesized by these genes appear to be correctly initiated, spliced, and at once translated into proteins. Both cardiac and skeletal actin genes are strongly transcribed in the axial skeletal muscle of embryos. The mechanism by which the cardiac actin gene is first transcribed in only the somite region of an embryo depends, at least in part, on materials already localized in the subequatorial region of a fertilized but uncleaved egg. Cells which acquire this material seem able to activate their cardiac actin genes without requiring normal contact with other cells.

Functional and ultrastructural effects of a missense mutation in the indirect flight muscle-specific actin gene of Drosophila melanogaster

1991 ◽  
Vol 222 (4) ◽  
pp. 963-982 ◽  
Author(s):  
John Sparrow ◽  
Mary Reedy ◽  
Elizabeth Ball ◽  
Vassilis Kyrtatas ◽  
Justin Molloy ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
Missense Mutation ◽  
Flight Muscle ◽  
Indirect Flight Muscle ◽  
Actin Gene

scholarly journals Tissue-specific and developmentally regulated expression of a chimeric actin-globin gene in transgenic mice.

1986 ◽  
Vol 6 (7) ◽  
pp. 2624-2631 ◽  
Author(s):  
M Shani
Keyword(s):  
Transgenic Mice ◽  
Dna Sequences ◽  
Globin Gene ◽  
Chimeric Gene ◽  
Actin Gene ◽  
Muscle Actin ◽  
Developmentally Regulated ◽  
Tissue Specific ◽  
Regulated Expression ◽  
Muscle Actin Gene

A chimeric plasmid containing about 2/3 of the rat skeletal muscle actin gene plus 730 base pairs of its 5' flanking sequences fused to the 3' end of a human embryonic globin gene (D. Melloul, B. Aloni, J. Calvo, D. Yaffe, and U. Nudel, EMBO J. 3:983-990, 1984) was inserted into mice by microinjection into fertilized eggs. Eleven transgenic mice carrying the chimeric gene with or without plasmid pBR322 DNA sequences were identified. The majority of these mice transmitted the injected DNA to about 50% of their progeny. However, in transgenic mouse CV1, transmission to progeny was associated with amplification or deletion of the injected DNA sequences, while in transgenic mouse CV4 transmission was distorted, probably as a result of insertional mutagenesis. Tissue-specific expression was dependent on the removal of the vector DNA sequences from the chimeric gene sequences prior to microinjection. None of the transgenic mice carrying the chimeric gene together with plasmid pBR322 sequences expressed the introduced gene in striated muscles. In contrast, the six transgenic mice carrying the chimeric gene sequences alone expressed the inserted gene specifically in skeletal and cardiac muscles. Moreover, expression of the chimeric gene was not only tissue specific, but also developmentally regulated. Similar to the endogenous skeletal muscle actin gene, the chimeric gene was expressed at a relatively high level in cardiac muscle of neonatal mice and at a significantly lower level in adult cardiac muscle. These results indicate that the injected DNA included sufficient cis-acting control elements for its tissue-specific and developmentally regulated expression in transgenic mice.

α-Skeletal muscle actin mutants causing different congenital myopathies induce similar cytoskeletal defects in cell line cultures

2009 ◽  
Vol 66 (4) ◽  
pp. 179-192 ◽  
Author(s):  
Drieke Vandamme ◽  
Heidi Rommelaere ◽  
Ellen Lambert ◽  
Davy Waterschoot ◽  
Joël Vandekerckhove ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Cell Line ◽  
Muscle Actin ◽  
Congenital Myopathies

Chromosomal mapping of the human smooth muscle actin gene (enteric type, ACTA3) to 2p13.1 and molecular nature of the HindIII polymorphism

Genomics ◽  
1995 ◽  
Vol 25 (3) ◽  
pp. 720-723 ◽  
Author(s):  
Hisao Ueyama ◽  
Johji Inazawa ◽  
Hoyoku Nishino ◽  
Deng Han-Xiang ◽  
Yukiko Ochiai ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Smooth Muscle Actin ◽  
Chromosomal Mapping ◽  
Actin Gene ◽  
Muscle Actin ◽  
Muscle Actin Gene ◽  
Hindiii Polymorphism ◽  
Molecular Nature
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