Mouse tafazzin is required for male germ cell meiosis and spermatogenesis

Cadalbert, L.C., Ghaffar, F.N., Stevenson, D., Bryson, S., Vaz, F.M., Gottlieb, E. and Strathdee, D. (2015) Mouse tafazzin is required for male germ cell meiosis and spermatogenesis. PLoS ONE, 10(6), e0131066. (doi: 10.1371/journal.pone.0131066) (PMID:26114544) (PMCID:PMC4483168)

Abstract

Barth syndrome is an X-linked mitochondrial disease, symptoms of which include neutropenia and cardiac myopathy. These symptoms are the most significant clinical consequences of a disease, which is increasingly recognised to have a variable presentation. Mutation in the Taz gene in Xq28 is thought to be responsible for the condition, by altering mitochondrial lipid content and mitochondrial function. Male chimeras carrying a targeted mutation of Taz on their X-chromosome were infertile. Testes from the Taz knockout chimeras were smaller than their control counterparts and this was associated with a disruption of the progression of spermatocytes through meiosis to spermiogenesis. Taz knockout ES cells also showed a defect when differentiated to germ cells in vitro. Mutant spermatocytes failed to progress past the pachytene stage of meiosis and had higher levels of DNA double strand damage and increased levels of endogenous retrotransposon activity. Altogether these data revealed a novel role for Taz in helping to maintain genome integrity in meiosis and facilitating germ cell differentiation. We have unravelled a novel function for the Taz protein, which should contribute to an understanding of how a disruption of the Taz gene results in the complex symptoms underlying Barth Syndrome.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Ghaffar, Miss Farah and Gottlieb, Professor Eyal and Bryson, Miss Sheila and Cadalbert, Dr Laurence and Stevenson, Dr David and Strathdee, Mr Douglas
• Authors: Cadalbert, L.C., Ghaffar, F.N., Stevenson, D., Bryson, S., Vaz, F.M., Gottlieb, E., and Strathdee, D.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: PLoS ONE
• Publisher: Public Library of Science
• ISSN: 1932-6203
• ISSN (Online): 1932-6203
• Copyright Holders: Copyright © 2015 The Authors
• First Published: First published in PLoS ONE 10(6):e0131066
• Publisher Policy: Reproduced under a Creative Commons License