Reappearance of the minor α-sarcomeric  actins in postnatal muscle

Collins, Teresa; Joya, Josephine E.; Arkell, Ruth M.; Ferguson, Vicki; Hardeman, Edna C.

doi:10.1152/ajpcell.1997.273.6.c1801

Cited by 9 publications

(8 citation statements)

References 31 publications

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“…We did, however, detect low-level X-gal staining in the heart, and, though this finding was somewhat surprising because of the lack of detection of the MCM protein in the heart, it is consistent with the findings of Collins et al [26]. Using a quantitative Northern blot method, Collins and colleagues found a low level of α-skeletal actin mRNA in the adult mouse heart [26]. Thus, the minor amount of X-gal staining in the heart likely reflects the function of the HSA promoter rather than a transgenic artifact or leakiness of the MCM system.…”

Section: Resultssupporting

confidence: 92%

“…Importantly, no X-gal staining was observed in vehicle-treated samples, confirming that the MCM-mediated recombination requires tamoxifen treatment. We did, however, detect low-level X-gal staining in the heart, and, though this finding was somewhat surprising because of the lack of detection of the MCM protein in the heart, it is consistent with the findings of Collins et al [26]. Using a quantitative Northern blot method, Collins and colleagues found a low level of α-skeletal actin mRNA in the adult mouse heart [26].…”

Section: Resultssupporting

confidence: 89%

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Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

et al. 2012

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BackgroundThe use of the Cre/loxP system for gene targeting has been proven to be a powerful tool for understanding gene function. The purpose of this study was to create and characterize an inducible, skeletal muscle-specific Cre transgenic mouse strain.MethodsTo achieve skeletal muscle-specific expression, the human α-skeletal actin promoter was used to drive expression of a chimeric Cre recombinase containing two mutated estrogen receptor ligand-binding domains.ResultsWestern blot analysis, PCR and β-galactosidase staining confirmed that Cre-mediated recombination was restricted to limb and craniofacial skeletal muscles only after tamoxifen administration.ConclusionsA transgenic mouse was created that allows inducible, gene targeting of floxed genes in adult skeletal muscle of different developmental origins. This new mouse will be of great utility to the skeletal muscle community.

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Section: Resultssupporting

confidence: 92%

Section: Resultssupporting

confidence: 89%

Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

et al. 2012

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“…For example, expression levels of both skeletal actin and vascular smooth-muscle actin are increased, the former transiently, following work overload-induced hypertrophy in the adult rodent heart (2, 9, 27). Likewise, in the adult BALB/c mouse heart, there is a reduced level of cardiac actin associated with a 9.5-kb duplication of a part of the cardiac actin gene that results in the increased expression of skeletal actin (3,15). Furthermore, we have reported that cardiac-actin-null mice show increases in skeletal and vascular actin in their hearts (10).…”

Section: Discussionmentioning

confidence: 82%

Mice Lacking Skeletal Muscle Actin Show Reduced Muscle Strength and Growth Deficits and Die during the Neonatal Period

Crawford¹,

Flick²,

Close³

et al. 2002

Molecular and Cellular Biology

103

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All four of the muscle actins (skeletal, cardiac, vascular, and enteric) in higher vertebrates show distinct expression patterns and display highly conserved amino acid sequences. While it is hypothesized that each of the muscle isoactins is specifically adapted to its respective tissue and that the minor variations among them have developmental and/or physiological relevance, the exact functional and developmental significance of these proteins remains largely unknown. In order to begin to assess these issues, we disrupted the skeletal actin gene by homologous recombination. All mice lacking skeletal actin die in the early neonatal period (day 1 to 9). These null animals appear normal at birth and can breathe, walk, and suckle, but within 4 days, they show a markedly lower body weight than normal littermates and many develop scoliosis. Null mice show a loss of glycogen and reduced brown fat that is consistent with malnutrition leading to death. Newborn skeletal muscles from null mice are similar to those of wild-type mice in size, fiber type, and ultrastructural organization. At birth, both hemizygous and homozygous null animals show an increase in cardiac and vascular actin mRNA in skeletal muscle, with no skeletal actin mRNA present in null mice. Adult hemizygous animals show an increased level of skeletal actin mRNA in hind limb muscle but no overt phenotype. Extensor digitorum longus (EDL) muscle isolated from skeletal-actin-deficient mice at day 2 to 3 showed a marked reduction in force production compared to that of control littermates, and EDL muscle from hemizygous animals displayed an intermediate force generation. Thus, while increases in cardiac and vascular smooth-muscle actin can partially compensate for the lack of skeletal actin in null mice, this is not sufficient to support adequate skeletal muscle growth and/or function.Actin forms the core of the thin filaments that are found in essentially all eukaryotic cells. It is required for cellular functions ranging from the generation and translation of mechanical force via a sliding-filament mechanism involving myosin filaments to the formation of rigid structures such as those found in intestinal microvilli and stereocilia. The actin gene family in vertebrates is comprised of six closely related proteins that are expressed in complex developmental and tissue-specific patterns (17,33). All six of the functional actin genes reside on different chromosomes. This multigene family appears to have arisen by duplication after the separation of the vertebrates and urochordates (11). Two nonmuscle actins, cytoplasmic ␤-and ␥-actin, are found in nonmuscle cells, and four actins which are very similar to one another (skeletal, cardiac, vascular, and enteric actin) comprise the major isoforms found in the adult muscle types for which they are named.The primary sequences of the six isoactins are very similar. The cytoplasmic actins differ from the muscle actins at about 25 of the 374 amino acid residues that make up their primary structure. These replacements a...

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“…27,28 Because ACTC expression might compensate for, or otherwise modulate, the effects of ␣-skeletal actin abnormalities, we assessed expression of these proteins in muscles from eight patients with, and three without, ACTA1 mutations ( …”

Section: Immunolocalization and Isoform Composition Of Sarcomeric Actinsmentioning

confidence: 99%

Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations

Agrawal

Strickland

Midgett

et al. 2004

Annals of Neurology

133

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Nemaline myopathy (NM) is the most common of several congenital myopathies that present with skeletal muscle weakness and hypotonia. It is clinically heterogeneous and the diagnosis is confirmed by identification of nemaline bodies in affected muscles. The skeletal muscle alpha-actin gene (ACTA1) is one of five genes for thin filament proteins identified so far as responsible for different forms of NM. We have screened the ACTA1 gene in a cohort of 109 unrelated patients with NM. Here, we describe clinical and pathological features associated with 29 ACTA1 mutations found in 38 individuals from 28 families. Although ACTA1 mutations cause a remarkably heterogeneous range of phenotypes, they were preferentially associated with severe clinical presentations (p < 0.0001). Most pathogenic ACTA1 mutations were missense changes with two instances of single base pair deletions. Most patients with ACTA1 mutations had no prior family history of neuromuscular disease (24/28). One severe case, caused by compound heterozygous recessive ACTA1 mutations, demonstrated increased alpha-cardiac actin expression, suggesting that cardiac actin might partially compensate for ACTA1 abnormalities in the fetal/neonatal period. This cohort also includes the first instance of an ACTA1 mutation manifesting with adult-onset disease and two pedigrees exhibiting potential incomplete penetrance. Overall, ACTA1 mutations are a common cause of NM, accounting for more than half of severe cases and 26% of all NM cases in this series.

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Reappearance of the minor α-sarcomeric actins in postnatal muscle

Cited by 9 publications

References 31 publications

Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

Mice Lacking Skeletal Muscle Actin Show Reduced Muscle Strength and Growth Deficits and Die during the Neonatal Period

Heterogeneity of nemaline myopathy cases with skeletal muscle α‐actin gene mutations

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