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Infertility-Causing Haploinsufficiency Reveals TRIM28/KAP1 Requirement in Spermatogonia.


ABSTRACT: Spermatogenesis relies on exquisite stem cell homeostasis, the carefully balanced self-renewal and differentiation of spermatogonial stem cells (SSCs). Disturbing this equilibrium will likely manifest through sub- or infertility, a global health issue with often idiopathic presentation. In this respect, disease phenotypes caused by haploinsufficiency of otherwise vital developmental genes are of particular interest. Here, we show that mice heterozygous for Trim28, an essential epigenetic regulator, suffer gradual testicular degeneration. Contrary to previous reports we detect Trim28 expression in spermatogonia, albeit at low levels. Further reduction through Trim28 heterozygosity increases the propensity of SSCs to differentiate at the cost of self-renewal.

SUBMITTER: Tan JHL 

PROVIDER: S-EPMC7220855 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Infertility-Causing Haploinsufficiency Reveals TRIM28/KAP1 Requirement in Spermatogonia.

Tan Joel H L JHL   Wollmann Heike H   van Pelt Ans M M AMM   Kaldis Philipp P   Messerschmidt Daniel M DM  

Stem cell reports 20200416 5


Spermatogenesis relies on exquisite stem cell homeostasis, the carefully balanced self-renewal and differentiation of spermatogonial stem cells (SSCs). Disturbing this equilibrium will likely manifest through sub- or infertility, a global health issue with often idiopathic presentation. In this respect, disease phenotypes caused by haploinsufficiency of otherwise vital developmental genes are of particular interest. Here, we show that mice heterozygous for Trim28, an essential epigenetic regulat  ...[more]

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