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. 1995 Oct 10;92(21):9905–9909. doi: 10.1073/pnas.92.21.9905

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

H Bujo 1, T Yamamoto 1, K Hayashi 1, M Hermann 1, J Nimpf 1, W J Schneider 1
PMCID: PMC40911  PMID: 7568242

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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