Mutant oocytic low density lipoprotein receptor gene family member causes atherosclerosis and female sterility

Hideaki Bujo, Tokuo Yamamoto, Kozo Hayashi, Marcela Hermann, Johannes Nimpf, Wolfgang Johann Schneider

Research output: Contribution to journalArticlepeer-review

98 Citations (Scopus)

Abstract

The so-called very low density lipoprotein receptors (VLDLRs) are related to the LDLR gene family. So far, naturally occurring mutations have only been described for the prototype LDLR; in humans, they cause familial hypercholesterolemia. Here we describe a naturally occurring mutation in a VLDLR that causes a dramatic abnormal phenotype. Hens of the mutant restricted-ovulator chicken strain carry a single mutation, lack functional oocyte receptors, are sterile, and display severe hyperlipidemia with associated premature atherosclerosis. The mutation converts a cysteine residue into a serine, resulting in an unpaired cysteine and greatly reduced expression of the mutant avian VLDLR on the oocyte surface. Extraoocytic cells in the mutant produce higher than normal amounts of a differentially spliced form of the receptor that is characteristic for somatic cells but absent from germ cells.

Original languageEnglish
Pages (from-to)9905-9909
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume92
Issue number21
DOIs
Publication statusPublished - 1995 Oct 10

Keywords

  • differential splicing
  • familial hypercholesterolemia
  • germ cells

ASJC Scopus subject areas

  • General

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