Format

Send to

Choose Destination
Nature. 1994 Jul 21;370(6486):216-8.

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected].

Author information

1
Department of Health Chemistry, Faculty of Pharmaceutical Sciences, University of Tokyo, Japan.

Erratum in

  • Nature 1994 Aug 4;370(6488):391.

Abstract

Platelet-activating factor (PAF) is involved in a variety of biological and pathological processes and PAF acetylhydrolase, which inactivates PAF by removing the acetyl group at the sn-2 position, is widely distributed in plasma and tissue cytosols. One isoform of PAF acetylhydrolase present in bovine brain cortex is a heterotrimer comprising subunits with relative molecular masses of 45K, 30K and 29K (ref. 4). We have now isolated the complementary DNA for the 45K subunit. Sequence analysis revealed a striking identity (99%) of the subunit with a protein encoded by the causative gene (LIS-1) for Miller-Dieker lissencephaly, a human brain malformation manifested by a smooth cerebral surface and abnormal neuronal migration. This indicates that the LIS-1 gene product is a human homologue of the 45K subunit of intracellular PAF acetylhydrolase. Our results raise the possibility that PAF and PAF acetylhydrolase are important in the formation of the brain cortex during differentiation and development.

PMID:
8028668
DOI:
10.1038/370216a0
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center