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  • Title: Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit.
    Author: Yamamoto T, Bishop RW, Brown MS, Goldstein JL, Russell DW.
    Journal: Science; 1986 Jun 06; 232(4755):1230-7. PubMed ID: 3010466.
    Abstract:
    The Watanabe heritable hyperlipidemic (WHHL) rabbit, an animal with familial hypercholesterolemia, produces a mutant receptor for plasma low-density lipoprotein (LDL) that is not transported to the cell surface at a normal rate. Cloning and sequencing of complementary DNA's from normal and WHHL rabbits, shows that this defect arises from an in-frame deletion of 12 nucleotides that eliminates four amino acids from the cysteine-rich ligand binding domain of the LDL receptor. A similar mutation, detected by S1 nuclease mapping of LDL receptor messenger RNA, occurred in a patient with familial hypercholesterolemia whose receptor also fails to be transported to the cell surface. These findings suggest that animal cells may have fail-safe mechanisms that prevent the surface expression of improperly folded proteins with unpaired or improperly bonded cysteine residues.
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