Related Experiment Video

Updated: Aug 28, 2025

CRISPR/Cas9 Editing of the C. elegans rbm-3.2 Gene using the dpy-10 Co-CRISPR Screening Marker and Assembled Ribonucleoprotein Complexes.
07:46

CRISPR/Cas9 Editing of the C. elegans rbm-3.2 Gene using the dpy-10 Co-CRISPR Screening Marker and Assembled Ribonucleoprotein Complexes.

Published on: December 11, 2020

6.0K

Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in RBMXL2: A case report

Farah Ghieh1,2, Vincent Izard3,4, Marine Poulain1,2,4

  • 1UVSQ, INRAE, BREED, Université Paris-Saclay, Jouy-en-Josas, France.

Andrologia
|September 14, 2022
PubMed

Insights

A mutation in the RBMXL2 gene causes male infertility by disrupting meiosis. This finding highlights RBMXL2

Area of Science:

  • Reproductive biology
  • Genetics
  • Molecular biology

Background:

  • Male fertility relies on precise gene regulation during meiosis, controlled by RNA-binding proteins.
  • Impaired function of these proteins can cause meiotic defects and male infertility.

Observation:

  • A patient with azoospermia and meiotic arrest was found to have a frameshift mutation in the RBMXL2 gene.
  • RBMXL2 protein was absent in the patient's testicular tissue.
  • Abnormal expression of key spermatogenesis proteins was observed, mirroring findings in RBMXL2-deficient mice.

Findings:

  • The identified RBMXL2 mutation leads to the absence of functional RBMXL2 protein.
  • This absence disrupts the meiotic transcriptome through cryptic splice site poisoning.
  • The study confirms RBMXL2's critical role in mammalian spermatogenesis.

Implications:

  • Deleterious RBMXL2 variants can cause male infertility due to meiotic arrest.
  • Understanding RBMXL2's function offers potential therapeutic targets for male reproductive disorders.
  • RBMXL2's role in safeguarding the meiotic transcriptome is conserved across mammals.
Keywords:
MEIOCRBMXL2infertilitymeiotic arrestwhole-exome sequencing

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