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TorsinA Is Functionally Associated with Spermatogenesis

Published online by Cambridge University Press:  24 September 2018

Joana B. Serrano ,
Filipa Martins ,
Cátia D. Pereira ,
Ans M. M. van Pelt ,
Odete A. B. da Cruz e Silva  and
Sandra Rebelo
Joana B. Serrano
Affiliation:
Neuroscience and Signalling Laboratory, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal
Filipa Martins
Affiliation:
Neuroscience and Signalling Laboratory, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal
Cátia D. Pereira
Affiliation:
Neuroscience and Signalling Laboratory, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal
Ans M. M. van Pelt
Affiliation:
Center for Reproductive Medicine, Research Institute Reproduction and Development, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
Odete A. B. da Cruz e Silva
Affiliation:
Neuroscience and Signalling Laboratory, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal The Discovery CTR, University of Aveiro Campus, 3810-193 Aveiro, Portugal
Sandra Rebelo*
Affiliation:
Neuroscience and Signalling Laboratory, Department of Medical Sciences, Institute of Biomedicine (iBiMED), University of Aveiro, 3810-193 Aveiro, Portugal
*
Author for correspondence: Sandra Rebelo, E-mail: srebelo@ua.pt
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Abstract

TorsinA is a member of the AAA+ superfamily of adenosine triphosphatases. These AAA+ proteins have numerous biological functions, including vesicle fusion, cytoskeleton dynamics, intracellular trafficking, protein folding, and degradation as well as organelle biogenesis. Of particular interest is torsinA, which is mainly located in the endoplasmic reticulum (ER) and nuclear envelope (NE). Interestingly, mutations in the TOR1A gene (the gene encoding torsinA) are associated with DYT1 dystonia and with the preferential localization of mutated torsinA at the NE, where it is associated with lamina-associated polypeptide 1. A bioinformatics study of the torsinA interactome revealed reproductive processes to be highly relevant, as proteins in this class were found to interact with the former. Interestingly, the torsin protein family had never been previously described to be associated with the mammalian spermatogenic process. Histological staining of torsinA in human testis tissue revealed a granular cytoplasmic localization in mid- and late spermatocytes. We further sought to understand this newly discovered expression of torsinA in the meiotic phase of human spermatogenesis by studying its specific subcellular distribution. TorsinA is not present in the ER as commonly described. The proposal that torsinA might relocate to the pro-acrosomal vesicles in the Golgi apparatus is discussed.

Keywords

endoplasmic reticulumgolgi apparatusnuclear envelopetorsinAspermatogenesis
Type
Life Sciences
Information
Microscopy and Microanalysis , Volume 25 , Issue 1 , February 2019 , pp. 221 - 228
Copyright
Copyright © Microscopy Society of America 2018 

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Footnotes

a

Both authors contributed equally to this work.

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