title: Stac3 is a novel regulator of skeletal muscle development in mice.
abstract: The goal of this study was to identify novel factors that mediate skeletal muscle development or function. We began the study by searching the gene expression databases for genes that have no known functions but are preferentially expressed in skeletal muscle. This search led to the identification of the Src homology three (SH3) domain and cysteine rich (C1) domain 3 (Stac3) gene. We experimentally confirmed that Stac3 mRNA was predominantly expressed in skeletal muscle. We determined if Stac3 plays a role in skeletal muscle development or function by generating Stac3 knockout mice. All Stac3 homozygous mutant mice were found dead at birth, were never seen move, and had a curved body and dropping forelimbs. These mice had marked abnormalities in skeletal muscles throughout the body, including central location of myonuclei, decreased number but increased cross-sectional area of myofibers, decreased number and size of myofibrils, disarrayed myofibrils, and streaming Z-lines. These phenotypes demonstrate that the Stac3 gene plays a critical role in skeletal muscle development and function in mice.
authors.affiliation: Department of Animal and Poultry Sciences, Virginia Polytechnic Institute and State University, Blacksburg, Virginia, United States of America.
authors.forename: Brad M
authors.initials: BM
authors.lastname: Reinholt
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Ge
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Cong
authors.forename: David E
authors.initials: DE
authors.lastname: Gerrard
authors.forename: Honglin
authors.initials: H
authors.lastname: Jiang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000818:Animals; D005786:Gene Expression Regulation; D023061:Gene Order; D018390:Gene Targeting; D005804:Genes, Lethal; D005838:Genotype; D051379:Mice; D018345:Mice, Knockout; D024510:Muscle Development / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009154:Mutation; D009210:Myofibrils / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; C583601:STAC3 protein, mouse