Sequence and expression of Tangier apoA-I gene.
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Makrides SC, Ruiz-Opazo N, Hayden M, Nussbaum AL, Breslow JL, Zannis VI
Sequence and expression of Tangier apoA-I gene.
Eur J Biochem. 1988 Apr 15;173(2):465-71.
- PubMed ID
- 3129297 [ View in PubMed]
- Abstract
We have isolated and characterized the apoA-I gene from a lambda L47.1 genomic library constructed with DNA obtained from the lymphocytes of a Tangier disease patient. The DNA-derived protein sequence of Tangier apoA-I was found to be identical to normal apoA-I. Transfection of mouse C127 cells with a recombinant vector containing the Tangier apoA-I gene (pSV2-gpt apoA-I) allowed selection of stable clones resistant to aminopterin and mycophenolic acid. Analysis of these clones for apoA-I synthesis showed that the protein secreted by cells expressing the Tangier apoA-I gene was indistinguishable from the apoA-I secreted by HepG2 cells. These experiments establish that the Tangier apoA-I gene is structurally normal. It appears that the molecular basis of Tangier disease is not related to apoA-I structure or regulation of expression, but rather to other factors pertinent to apoA-I and high-density lipoprotein metabolism.