Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

Nat Genet. 1998 Aug;19(4):333-9. doi: 10.1038/1221.

Abstract

Heterozygous mutation or deletion of the beta subunit of platelet-activating factor acetylhydrolase (PAFAH1B1, also known as LIS1) in humans is associated with type I lissencephaly, a severe developmental brain disorder thought to result from abnormal neuronal migration. To further understand the function of PAFAH1B1, we produced three different mutant alleles in mouse Pafah1b1. Homozygous null mice die early in embryogenesis soon after implantation. Mice with one inactive allele display cortical, hippocampal and olfactory bulb disorganization resulting from delayed neuronal migration by a cell-autonomous neuronal pathway. Mice with further reduction of Pafah1b1 activity display more severe brain disorganization as well as cerebellar defects. Our results demonstrate an essential, dosage-sensitive neuronal-specific role for Pafah1b1 in neuronal migration throughout the brain, and an essential role in early embryonic development. The phenotypes observed are distinct from those of other mouse mutants with neuronal migration defects, suggesting that Pafah1b1 participates in a novel pathway for neuronal migration.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Animals
  • Cell Movement / physiology*
  • Cells, Cultured
  • Cerebellum / abnormalities
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / embryology
  • Cerebral Cortex / pathology*
  • Embryonic and Fetal Development
  • Genotype
  • Hippocampus / pathology
  • Mice
  • Mice, Knockout
  • Microtubule-Associated Proteins*
  • Neurons / cytology*
  • Olfactory Bulb / pathology
  • Proteins / genetics
  • Proteins / physiology*

Substances

  • Microtubule-Associated Proteins
  • Proteins
  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Pafah1b1 protein, mouse