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Cryptic splicing: common pathological mechanisms involved in male infertility and neuronal diseases

Lookup NU author(s): Saad Aldalaqan, Caroline Dalgliesh, Dr Sara LuzziORCiD, Chile Siachisumo, Dr Louise Reynard, Dr Ingrid Ehrmann, Professor David Elliott



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2021 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.High levels of transcription and alternative splicing are recognized hallmarks of gene expression in the testis and largely driven by cells in meiosis. Because of this, the male meiosis stage of the cell cycle is often viewed as having a relatively permissive environment for gene expression. In this review, we highlight recent findings that identify the RNA binding protein RBMXL2 as essential for male meiosis. RBMXL2 functions as a “guardian of the transcriptome” that protects against the use of aberrant (or “cryptic”) splice sites that would disrupt gene expression. This newly discovered protective role during meiosis links with a wider field investigating mechanisms of cryptic splicing control that protect neurons from amyotrophic lateral sclerosis and Alzheimer’s disease. We discuss how the mechanism repressing cryptic splicing patterns during meiosis evolved, and why it may be essential for sperm production and male fertility.

Publication metadata

Author(s): Aldalaqan S, Dalgliesh C, Luzzi S, Siachisumo C, Reynard LN, Ehrmann I, Elliott DJ

Publication type: Review

Publication status: Published

Journal: Cell Cycle

Year: 2022

Volume: 21

Issue: 3

Pages: 219-227

Online publication date: 20/12/2021

Acceptance date: 30/11/2021

ISSN (print): 1538-4101

ISSN (electronic): 1551-4005

Publisher: Taylor and Francis Ltd.


DOI: 10.1080/15384101.2021.2015672