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YIPF5 (p.W218R) mutation induced primary microcephaly in rabbits.

Xin Liu1, Jie Yang1, Zhaoyi Li1

  • 1Key Laboratory of Zoonosis Research, Ministry of Education, Jilin University, Changchun 130062, China.

Neurobiology of Disease
|May 4, 2023
PubMed
Summary

Researchers created a gene-edited rabbit model for primary microcephaly (PMCPH) by introducing a YIPF5 mutation. This model accurately mimics human PMCPH symptoms, offering new insights into the disorder.

Keywords:
Cerebral cortexERSPMCPHRabbitSpRY-ABEmaxYIPF5

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Primary microcephaly (PMCPH) is a rare neurodevelopmental disorder affecting brain size, with a prevalence of 0.0013% to 0.15%.
  • A homozygous missense mutation in YIPF5 (p.W218R) has been identified as a cause of severe microcephaly.

Purpose of the Study:

  • To develop and characterize a novel gene-edited rabbit model for PMCPH.
  • To investigate the role of YIPF5 mutation in the pathogenesis of PMCPH.

Main Methods:

  • Utilized SpRY-ABEmax base editing to introduce the YIPF5 (p.W218R) mutation in rabbits.
  • Phenotypic analysis of mutant rabbits, including growth, head circumference, motor ability, and survival rates.
  • Investigated cellular mechanisms including endoplasmic reticulum stress (ERS) and unfolded protein responses (UPR) in cortical neurons.

Main Results:

  • The gene-edited rabbits accurately recapitulated human PMCPH symptoms: stunted growth, reduced head circumference, motor deficits, and lower survival.
  • Altered YIPF5 function in cortical neurons led to ERS, impacting apical progenitor generation and neurodevelopment.
  • Established a correlation between UPR induced by ERS and PMCPH development.

Conclusions:

  • This study presents the first gene-edited rabbit model for PMCPH, superior to mouse models in mimicking human clinical features.
  • The model provides a valuable platform for understanding YIPF5's role in human brain development and PMCPH pathogenesis.
  • Offers a theoretical basis for improved differential diagnosis and clinical treatment strategies for PMCPH.