Campus Units

Biomedical Sciences

Document Type

Article

Publication Version

Accepted Manuscript

Publication Date

3-2017

Journal or Book Title

Biochimica et Biophysica Acta (BBA)— Gene Regulatory Mechanisms

Volume

1860

Issue

3

First Page

299

Last Page

315

DOI

10.1016/j.bbagrm.2016.12.008

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.

Comments

This is a manuscript of an article published as Singh, Ravindra N., Matthew D. Howell, Eric W. Ottesen, and Natalia N. Singh. "Diverse role of survival motor neuron protein." Biochimica et Biophysica Acta (BBA)—Gene Regulatory Mechanisms 1860, no. 3 (2017): 299-315. DOI: 10.1016/j.bbagrm.2016.12.008. Posted with permission.

Creative Commons License

Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Copyright Owner

Elsevier B.V.

Language

en

File Format

application/pdf

Published Version

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