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

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.

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

Journal of Molecular Biology ◽

10.1016/0022-2836(91)90588-w ◽

1991 ◽

Vol 222 (4) ◽

pp. 963-982 ◽

Cited By ~ 26

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

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

Molecular and Cellular Biology ◽

10.1128/mcb.6.7.2624 ◽

1986 ◽

Vol 6 (7) ◽

pp. 2624-2631 ◽

Cited By ~ 49

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.

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