Pak1ip1 Loss-of-Function Leads to Cell Cycle Arrest, Loss of Neural Crest Cells, and Craniofacial Abnormalities

Alexios A. Panoutsopoulos, Angelo Harlan De Crescenzo, Albert Lee, Amelia Mac Kenzie Lu, Adam P. Ross, Laura N. Borodinsky, Ralph Marcucio, Paul A. Trainor, Konstantinos S. Zarbalis

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Neural crest cells (NCCs) comprise a transient progenitor cell population of neuroepithelial origin that contributes to a variety of cell types throughout vertebrate embryos including most mesenchymal cells of the cranial and facial structures. Consequently, abnormal NCC development underlies a variety of craniofacial defects including orofacial clefts, which constitute some of the most common birth defects. We previously reported the generation of manta ray (mray) mice that carry a loss-of-function allele of the gene encoding the preribosomal factor Pak1ip1. Here we describe cranioskeletal abnormalities in homozygous mray mutants that arise from a loss of NCCs after their specification. Our results show that the localized loss of cranial NCCs in the developing frontonasal prominences is caused by cell cycle arrest and cell death. In addition, and consistent with deficits in ribosome biosynthesis, homozygous mray mutants display decreased protein biosynthesis, further linking Pak1ip1 to a role in ribosome biogenesis.

Original languageEnglish (US)
Article number510063
JournalFrontiers in Cell and Developmental Biology
StatePublished - Sep 1 2020


  • development
  • mouse
  • neural crest
  • orofacial clefts
  • Pak1ip1
  • ribosomopathies

ASJC Scopus subject areas

  • Developmental Biology
  • Cell Biology


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