scholarly journals Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

2018 ◽  
Vol 28 (4) ◽  
pp. 323-326 ◽  
Author(s):  
Vilma-Lotta Lehtokari ◽  
Maria Gardberg ◽  
Katarina Pelin ◽  
Carina Wallgren-Pettersson
Keyword(s):  
Skeletal Muscle ◽  
Nemaline Myopathy ◽  
Actin Gene ◽  
Generation Family ◽  
Alpha Actin

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)

2006 ◽  
Vol 16 (9-10) ◽  
pp. 541-547 ◽  
Author(s):  
William Wallefeld ◽  
Sabine Krause ◽  
Kristen J. Nowak ◽  
Danielle Dye ◽  
Rita Horváth ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Stop Codon ◽  
Nemaline Myopathy ◽  
Actin Gene ◽  
Alpha Actin

The chicken skeletal muscle alpha-actin promoter is tissue specific in transgenic mice

1989 ◽  
Vol 9 (9) ◽  
pp. 3785-3792
Author(s):  
C J Petropoulos ◽  
M P Rosenberg ◽  
N A Jenkins ◽  
N G Copeland ◽  
S H Hughes
Keyword(s):  
Skeletal Muscle ◽  
Transgenic Mice ◽  
Striated Muscle ◽  
Transcriptional Start Site ◽  
Actin Gene ◽  
Tissue Specific ◽  
Adult Mice ◽  
Transgenic Lines ◽  
Alpha Actin ◽  
Chicken Skeletal Muscle

We have generated transgenic mouse lines that carry the promoter region of the chicken skeletal muscle alpha (alpha sk) actin gene linked to the bacterial chloramphenicol acetyltransferase (CAT) gene. In adult mice, the pattern of transgene expression resembled that of the endogenous alpha sk actin gene. In most of the transgenic lines, high levels of CAT activity were detected in striated muscle (skeletal and cardiac) but not in the other tissues tested. In striated muscle, transcription of the transgene was initiated at the normal transcriptional start site of the chicken alpha sk actin gene. The region from nucleotides -191 to +27 of the chicken alpha sk actin gene was sufficient to direct the expression of CAT in striated muscle of transgenic mice. These observations suggest that the mechanism of tissue-specific actin gene expression is well conserved in higher vertebrate species.

scholarly journals The chicken skeletal muscle alpha-actin promoter is tissue specific in transgenic mice.

1989 ◽  
Vol 9 (9) ◽  
pp. 3785-3792 ◽  
Author(s):  
C J Petropoulos ◽  
M P Rosenberg ◽  
N A Jenkins ◽  
N G Copeland ◽  
S H Hughes
Keyword(s):  
Skeletal Muscle ◽  
Transgenic Mice ◽  
Striated Muscle ◽  
Transcriptional Start Site ◽  
Actin Gene ◽  
Tissue Specific ◽  
Adult Mice ◽  
Transgenic Lines ◽  
Alpha Actin ◽  
Chicken Skeletal Muscle

We have generated transgenic mouse lines that carry the promoter region of the chicken skeletal muscle alpha (alpha sk) actin gene linked to the bacterial chloramphenicol acetyltransferase (CAT) gene. In adult mice, the pattern of transgene expression resembled that of the endogenous alpha sk actin gene. In most of the transgenic lines, high levels of CAT activity were detected in striated muscle (skeletal and cardiac) but not in the other tissues tested. In striated muscle, transcription of the transgene was initiated at the normal transcriptional start site of the chicken alpha sk actin gene. The region from nucleotides -191 to +27 of the chicken alpha sk actin gene was sufficient to direct the expression of CAT in striated muscle of transgenic mice. These observations suggest that the mechanism of tissue-specific actin gene expression is well conserved in higher vertebrate species.

Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene

2007 ◽  
Vol 35 (2) ◽  
pp. 254-258 ◽  
Author(s):  
Anthony A. Bouldin ◽  
Melissa A. Parisi ◽  
Nigel Laing ◽  
Kathleen Patterson ◽  
Sidney M. Gospe
Keyword(s):  
Novel Mutation ◽  
Nemaline Myopathy ◽  
Actin Gene ◽  
Alpha Actin ◽  
Variable Presentation

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

scholarly journals GGeneration of an efficient artificial promoter of bovine skeletal muscle alpha-actin gene (ACTA1) through addition of cis-acting element

2015 ◽  
Vol 20 (1) ◽  
Author(s):  
Qian Hu ◽  
Huili Tong ◽  
Dandan Zhao ◽  
Yunkao Cao ◽  
Weiwei Zhang ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Core Promoter ◽  
Genetically Engineered ◽  
Actin Gene ◽  
Base Pairs ◽  
Cis Acting ◽  
The Core ◽  
Binding Factor ◽  
Bovine Skeletal Muscle ◽  
Alpha Actin

AbstractThe promoter of skeletal muscle α-actin gene (ACTA1) is highly muscle specific. The core of the bovine ACTA1 promoter extends from +29 to −233, about 262 base pairs (bp), which is sufficient to activate transcription in bovine muscle satellite cells. In this study, analysis by PCR site-specific mutagenesis showed that the cis-acting element SRE (serum response element binding factor) was processed as a transcriptional activator. In order to enhance the bovine ACTA1 promoter’s activity, we used a strategy to modify it. We cloned a fragment containing three SREs from the promoter of ACTA1, and then one or two clones were linked upstream of the core promoter (262 bp) of ACTA1. One and two clones increased the activity of the ACTA1 promoter 3-fold and 10-fold, respectively, and maintained muscle tissue specificity. The modified promoter with two clones could increase the level of ACTA1 mRNA and protein 4-fold and 1.1-fold, respectively. Immunofluorescence results showed that green fluorescence of ACTA1 increased. Additionally, the number of total muscle microfilaments increased. These genetically engineered promoters might be useful for regulating gene expression in muscle cells and improving muscle mass in livestock.

Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

10.1038/13837 ◽  
1999 ◽  
Vol 23 (2) ◽  
pp. 208-212 ◽  
Author(s):  
Kristen J. Nowak ◽  
Duangrurdee Wattanasirichaigoon ◽  
Hans H. Goebel ◽  
Matthew Wilce ◽  
Katarina Pelin ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Nemaline Myopathy ◽  
Actin Gene

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

2003 ◽  
Vol 13 (7-8) ◽  
pp. 519-531 ◽  
Author(s):  
John C. Sparrow ◽  
Kristen J. Nowak ◽  
Hayley J. Durling ◽  
Alan H. Beggs ◽  
Carina Wallgren-Pettersson ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Muscle Disease ◽  
Actin Gene ◽  
Alpha Actin
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