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Cholesterol 7 alpha hydroxylase promoter separated from cyclophilin pseudogene by Alu sequence
J F Thompson1, M E Lira, D B Lloyd
1Molecular Genetics and Protein Chemistry Research Department, Pfizer Inc., Groton, CT 06340.
Biochimica Et Biophysica Acta
|June 12, 1993
Summary
Researchers cloned and sequenced the human cholesterol 7-alpha hydroxylase promoter, identifying a common MaeII polymorphism and an Alu sequence. This provides a more complete understanding of the gene
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- Cholesterol 7-alpha hydroxylase (CYP7A1) is a key enzyme in bile acid synthesis.
- Understanding the regulation of CYP7A1 is crucial for metabolic research.
- Previous sequencing efforts of the CYP7A1 promoter have yielded conflicting results.
Purpose of the Study:
- To clone and sequence the promoter region of human cholesterol 7-alpha hydroxylase.
- To resolve discrepancies in previously reported promoter sequences.
- To identify novel genetic variations and regulatory elements within the promoter.
Main Methods:
- Cloning of the human cholesterol 7-alpha hydroxylase promoter.
- DNA sequencing of the cloned promoter region.
- Bioinformatic analysis to compare sequences and identify elements.
Main Results:
- The sequenced promoter region largely agrees with one prior report but differs from another.
- A widespread MaeII polymorphism was identified at position -469.
- An Alu sequence flanked by adenine runs was found at position -2636, with an oppositely oriented cyclophilin pseudogene upstream.
Conclusions:
- This study provides a refined and validated sequence for the human cholesterol 7-alpha hydroxylase promoter.
- The identified MaeII polymorphism may influence gene regulation and warrants further investigation.
- The presence of the Alu sequence and pseudogene offers insights into the promoter's structural complexity and evolutionary history.