Lanosterol 14-demethylase CYP51 is the most conserved cytochrome P450 (CYP) and is a part of hepatic cholesterolsynthesis. Other liver CYPs contribute to cholesterol detoxification through bile acids ...or to xenobiotic detoxification(DM). To get novel insights into characteristics of the CYP51A1 locus that was so far not linked to human disorders weperformed a meta-analysis of CYP51A1 gene polymorphisms in comparison to other liver CYPs and other genes of cholesterolsynthesis. Cholesterol linked genes are generally less polymorphic than DM CYPs, with less coding variants,indicating differences in selection pressure between cholesterol and xenobiotic pathways. Among the studied liverCYPs, CYP51A1 has the lowest number of coding variants, and less common variants compared to average for cholesterolsynthesis. We were not able to detect other functional molecules within the CYP51 gene (such as lincRNA or mi-RNA), so we looked into the entire gene locus. We found the AL133568 sequence that overlaps with the CYP51A1 promoterregion. Our hypothesis was that the AL133568 transcript may have a role in regulating CYP51A1 expression, butwe were unable to prove this experimentally. The reason for the low population variability of the human CYP51A1 thusremains uncertain.
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