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Publication : Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression.

First Author  Lin FJ Year  2013
Journal  PLoS Genet Volume  9
Issue  5 Pages  e1003516
PubMed ID  23717213 Mgi Jnum  J:200015
Mgi Id  MGI:5506828 Doi  10.1371/journal.pgen.1003516
Citation  Lin FJ, et al. (2013) Ikbkap/Elp1 deficiency causes male infertility by disrupting meiotic progression. PLoS Genet 9(5):e1003516
abstractText  Mouse Ikbkap gene encodes IKAP--one of the core subunits of Elongator--and is thought to be involved in transcription. However, the biological function of IKAP, particularly within the context of an animal model, remains poorly characterized. We used a loss-of-function approach in mice to demonstrate that Ikbkap is essential for meiosis during spermatogenesis. Absence of Ikbkap results in defects in synapsis and meiotic recombination, both of which result in increased apoptosis and complete arrest of gametogenesis. In Ikbkap-mutant testes, a few meiotic genes are down-regulated, suggesting IKAP's role in transcriptional regulation. In addition, Ikbkap-mutant testes exhibit defects in wobble uridine tRNA modification, supporting a conserved tRNA modification function from yeast to mammals. Thus, our study not only reveals a novel function of IKAP in meiosis, but also suggests that IKAP contributes to this process partly by exerting its effect on transcription and tRNA modification.
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