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Durham University

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Publication details for Dr Sushma Grellscheid

Ehrmann, Ingrid, Crichton, James H, Gazzara, Matthew R, James, Katherine, Liu, Yilei, Grellscheid, Sushma Nagaraja, Curk, Tomaž, de Rooij, Dirk, Steyn, Jannetta S, Cockell, Simon, Adams, Ian R, Barash, Yoseph & Elliott, David J (2019). An ancient germ cell-specific RNA-binding protein protects the germline from cryptic splice site poisoning. eLife 8: e39304.

Author(s) from Durham

Abstract

Male germ cells of all placental mammals express an ancient nuclear RNA binding
protein of unknown function called RBMXL2. Here we find that deletion of the retrogene encoding
RBMXL2 blocks spermatogenesis. Transcriptome analyses of age-matched deletion mice show that
RBMXL2 controls splicing patterns during meiosis. In particular, RBMXL2 represses the selection of
aberrant splice sites and the insertion of cryptic and premature terminal exons. Our data suggest a
Rbmxl2 retrogene has been conserved across mammals as part of a splicing control mechanism
that is fundamentally important to germ cell biology. We propose that this mechanism is essential
to meiosis because it buffers the high ambient concentrations of splicing activators, thereby
preventing poisoning of key transcripts and disruption to gene expression by aberrant splice site
selection.