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PMID 28884822
Gene Name TBX1
Condition Testis specific transcription factor
Association Associated
Sex Male
Infertility type Male infertility
Other associated phenotypes Testis specific transcription factor


RNA binding protein Musashi-2 regulates PIWIL1 and TBX1 in mouse spermatogenesis

Sutherland JM, Sobinoff AP, Fraser BA, Redgrove KA, Siddall NA, Koopman P, Hime GR, McLaughlin EA.

RNA-binding proteins (RBP) are important facilitators of post-transcriptional gene regulation. We have previously established that nuclear overexpression of the RBP Musashi-2 (MSI2) during male germ cell maturation is detrimental to sperm cell development and fertility. Herein we determine the genes and pathways impacted by the upregulation of Msi2. Microarray analysis and qPCR confirmed differential gene expression in factors fundamental to the cell cycle, cellular proliferation, and cell death. Similarly, comparative protein expression analysis via iTRAQ, immunoblot, and immunolocalization, identified differential expression and localization of important regulators of transcription, translation, RNA processing, and spermatogenesis. Specifically, the testis-expressed transcription factor, Tbx1, and the piRNA regulator of gamete development, Piwil1, were both found to be targeted for translational repression by MSI2. This study provides key evidence to support a fundamental role for MSI2 in post-transcriptional regulation during male gamete development. CI - © 2017 Wiley Periodicals, Inc. FAU - Sutherland, Jessie M AU - Sutherland JM AUID- ORCID: 0000-0001-9672-2371 AD - School of Biomedical Science & Pharmacy, University of Newcastle, Callaghan, Australia. AD - Priority Research Centre in Reproductive Science, University of Newcastle, Callaghan, Australia. FAU - Sobinoff, Alexander P AU - Sobinoff AP AD - Priority Research Centre in Reproductive Science, University of Newcastle, Callaghan, Australia. AD - Telomere Length Regulation Group, Children's Medical Research Institute, University of Sydney, Westmead, Australia. FAU - Fraser, Barbara A AU - Fraser BA AD - Priority Research Centre in Reproductive Science, University of Newcastle, Callaghan, Australia. FAU - Redgrove, Kate A AU - Redgrove KA AD - Priority Research Centre in Reproductive Science, University of Newcastle, Callaghan, Australia. FAU - Siddall, Nicole A AU - Siddall NA AD - Anatomy and Neuroscience, University of Melbourne, Parkville, Australia. FAU - Koopman, Peter AU - Koopman P AD - Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia. FAU - Hime, Gary R AU - Hime GR AD - Anatomy and Neuroscience, University of Melbourne, Parkville, Australia.