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Related Experiment Videos

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

Andrew DiStasio1, Ashley Driver1, Kristen Sund1

  • 1Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

Human Molecular Genetics
|October 17, 2017
PubMed
Summary

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This summary is machine-generated.

Coatomer Protein Complex, Subunit Beta 2 (COPB2) mutations cause primary microcephaly. Mouse models reveal COPB2 is essential for embryogenesis and brain development, impacting neuronal layer formation and survival.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Primary microcephaly is a congenital condition causing reduced head size and severe intellectual disability.
  • Genetic factors are implicated in primary microcephaly, but causative genes and mechanisms remain incompletely understood.

Observation:

  • Exome sequencing identified a novel autosomal recessive mutation in Coatomer Protein Complex, Subunit Beta 2 (COPB2) in a family with primary microcephaly.
  • Generated mouse models with null and patient-derived variants of Copb2 to investigate its role in neural development.

Findings:

  • Copb2 null alleles are essential for early embryogenesis, indicating a fundamental role in development.
  • Mice heterozygous for a patient variant and a null allele (Copb2R254C/Zfn) exhibit severe perinatal complications, including increased brain apoptosis and reduced specific neuronal populations.

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  • The patient variant alone (Copb2R254C/R254C) did not cause a phenotype in mice, suggesting species-specific differences in corticogenesis or compensatory mechanisms.

    • Implications:

    • COPB2 plays a critical role in mammalian embryogenesis and specifically in corticogenesis, impacting neuronal development and survival.
    • CRISPR-Cas9 generated mouse models are valuable tools for studying the pathogenicity of human genetic variants.
    • Understanding COPB2's function may offer insights into the pathogenesis of primary microcephaly and related neurodevelopmental disorders.