Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype
Clive R. Pullinger, … , Mary J. Malloy, John P. Kane
Clive R. Pullinger, … , Mary J. Malloy, John P. Kane
Published July 1, 2002
Citation Information: J Clin Invest. 2002;110(1):109-117. https://doi.org/10.1172/JCI15387.
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Article Genetics

Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

Abstract

Research Article

Authors

Clive R. Pullinger, Celeste Eng, Gerald Salen, Sarah Shefer, Ashok K. Batta, Sandra K. Erickson, Andrea Verhagen, Christopher R. Rivera, Sean J. Mulvihill, Mary J. Malloy, John P. Kane

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Figure 1

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Analysis of the CYP7A1 gene. (a) DGGE analysis of exon 6 showing the 130...
Analysis of the CYP7A1 gene. (a) DGGE analysis of exon 6 showing the 1302-1303delTT mutation. Prior to DGGE, samples were digested with MboI. Lanes 1, 2, 3, and 5, unaffected individuals; lane 4, subject IV-19. Normal homoduplex bands and mutant, gel-shifted homoduplex band are marked. (b) Sequence of a portion of exon 6 showing the TT deletion, which results in a frameshift and premature stop codon. (c) Diagrammatic depiction of the CYP7A1 gene structure with normal and predicted mutant proteins.