Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

@article{Beggs1992CloningAC,
  title={Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.},
  author={A. Beggs and T. Byers and J. Knoll and F. Boyce and G. Bruns and L. Kunkel},
  journal={The Journal of biological chemistry},
  year={1992},
  volume={267 13},
  pages={
          9281-8
        }
}
Conserved sequences of dystrophin, beta-spectrin, and alpha-actinin were used to plan a set of degenerate oligonucleotide primers with which we amplified a portion of a human alpha-actinin gene transcript. Using this short clone as a probe, we isolated and characterized full-length cDNA clones for two human alpha-actinin genes (ACTN2 and ACTN3). These genes encode proteins that are structurally similar to known alpha-actinins with approximately 80% amino acid identity to each other and to the… Expand
A chick skeletal-muscle alpha-actinin gene gives rise to two alternatively spliced isoforms which differ in the EF-hand Ca(2+)-binding domain.
TLDR
The splice variant derived from the skeletal-muscle alpha-actinin gene was also detected in a variety of cDNA libraries from both adult and embryonic tissues by PCR, and a new nomenclature is proposed to describe the various alpha-Actinin genes and their transcripts. Expand
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.
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Genotyping of non-human primates indicates that the 577X null mutation has likely arisen in humans, and sequence comparison of human, mouse and chicken alpha-actinin genes demonstrates that ACTN3 has been conserved over a long period of evolutionary time, implying a constraint on evolutionary rate imposed by continued function of the gene. Expand
Fine Mapping and Genomic Structure of ACTN2, the Human Gene Coding for the Sarcomeric Isoform of α-Actinin-2, Expressed in Skeletal and Cardiac Muscle
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A series of intronic primers was specifically designed and produced, to amplify all the exons of ACTN2, directly from genomic DNA, to enable mutation screening in patients affected with hereditary diseases linked to the marker CA4F/R, a polymorphism in the last intron of the α-actinin-2 gene. Expand
alpha-actinin-2 is a new component of the dystrophin-glycoprotein complex.
TLDR
It is proposed that dystrophin forms lateral, multicontact association with actin and that binding of alpha-actinin-2 to the carboxyl-terminus of dystrophicin is the communication link between the integrins and the dystphin/dystroph in-glycoprotein complex. Expand
Human Skeletal Muscle-Specific α-Actinin-2 and -3 Isoforms Form Homodimers and Heterodimersin Vitroandin Vivo
TLDR
The results clearly demonstrate the potential for α-actinin isoforms to form heterodimers which might have unique functional characteristics and are able to detect their interaction by both blot overlay and co-immunoprecipitation methods. Expand
Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells
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It is concluded that smoothelin is a new cytoskeletal protein that is only found in contractile smooth muscle cells and does not belong to one of the classes of structural proteins presently known. Expand
A common nonsense mutation results in α-actinin-3 deficiency in the general population
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To ascertain whether α-actinin-3 deficiency was associated with mutations of ACTN3, an RT-PCR approach was used to amplify mRNA isolated from diagnostic muscle biopsies and identified two changes relative to controls and the previously determined sequence M86407. Expand
Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.
TLDR
The completed genome sequence of over 32 invertebrate species has allowed the analysis of gene structure and exon-gene duplication over a diverse range of phyla to show that relative to early branching metazoans, there has been considerable intron loss especially in arthropods with few cases of intron gains. Expand
Cloning and characterization of pig muscle cDNAs by an expressed sequence tag approach
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Random selection from an adult skeletal muscle cDNA library, coupled with dot blot hybridization of the cDNA clones with complex probes representing muscle and non‐muscle gene expression, was used to identify putative muscle‐specific cDNAs. Expand
Two biochemically distinct and tissue-specific twinfilin isoforms are generated from the mouse Twf2 gene by alternative promoter usage.
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Results show that, like Twf1, mouse Twf2 is a filament barbed-end capping protein, and that two tissue-specific and biochemically distinct isoforms are generated from the Twf 2 gene through alternative promoter usage. Expand
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The content has been entirely recast to include nucleic-acid based methods selected as the most widely used and valuable in molecular and cellular biology laboratories. Expand
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