title: Diverse role of survival motor neuron protein.
abstract: The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism through the formation and/or interaction with ribonucleoprotein (RNP) complexes. SMN regulates biogenesis of small nuclear RNPs, small nucleolar RNPs, small Cajal body-associated RNPs, signal recognition particles and telomerase. SMN also plays an important role in DNA repair, transcription, pre-mRNA splicing, histone mRNA processing, translation, selenoprotein synthesis, macromolecular trafficking, stress granule formation, cell signaling and cytoskeleton maintenance. The tissue-specific requirement of SMN is dictated by the variety and the abundance of its interacting partners. Reduced expression of SMN causes spinal muscular atrophy (SMA), a leading genetic cause of infant mortality. SMA displays a broad spectrum ranging from embryonic lethality to an adult onset. Aberrant expression and/or localization of SMN has also been associated with male infertility, inclusion body myositis, amyotrophic lateral sclerosis and osteoarthritis. This review provides a summary of various SMN functions with implications to a better understanding of SMA and other pathological conditions.
authors.affiliation: Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States. Electronic address: singhr@iastate.edu.
authors.forename: Ravindra N
authors.initials: RN
authors.lastname: Singh
authors.affiliation: Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States.
authors.forename: Matthew D
authors.initials: MD
authors.lastname: Howell
authors.affiliation: Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States.
authors.forename: Eric W
authors.initials: EW
authors.lastname: Ottesen
authors.affiliation: Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, United States.
authors.forename: Natalia N
authors.initials: NN
authors.lastname: Singh
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000378:metabolism; D000818:Animals; D020541:Coiled Bodies / Q000235:genetics / Q000378:metabolism; D003599:Cytoskeleton / Q000235:genetics / Q000378:metabolism; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D007248:Infertility, Male / Q000235:genetics / Q000378:metabolism; D008297:Male; D018979:Myositis, Inclusion Body / Q000235:genetics / Q000378:metabolism; D012342:RNA, Small Nuclear / Q000235:genetics / Q000378:metabolism; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics / Q000378:metabolism; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics / Q000378:metabolism*
chemical_list: D012342:RNA, Small Nuclear; D055533:Survival of Motor Neuron 1 Protein
keywords: Cajal body; DNA repair; Gem; SBP2; SMA; SMN; Selenoprotein; Signal recognition particle; Spinal muscular atrophy; Splicing; Survival Motor Neuron; TERC; TERT; TMG; Telomerase; Transcription; snRNP biogenesis; snoRNP biogenesis