[HTML][HTML] Mouse tafazzin is required for male germ cell meiosis and spermatogenesis

LC Cadalbert, FN Ghaffar, D Stevenson, S Bryson… - PLoS …, 2015 - journals.plos.org
LC Cadalbert, FN Ghaffar, D Stevenson, S Bryson, FM Vaz, E Gottlieb, D Strathdee
PLoS One, 2015journals.plos.org
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 …
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.
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