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Related Experiment Videos

Polymorphisms of human cholesterol 7 alpha-hydroxylase.

W G Karam1, J Y Chiang

  • 1Department of Biochemistry and Molecular Pathology, Northeastern Ohio Universities College of Medicine, Rootstown 44272.

Biochemical and Biophysical Research Communications
|June 15, 1992
PubMed
Summary

Researchers identified genetic variations in human liver cholesterol 7 alpha-hydroxylase (CYP7) cDNAs. These findings suggest potential allelic differences in the CYP7 gene, impacting cholesterol metabolism.

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Background:

  • Cholesterol 7 alpha-hydroxylase (CYP7) is a key enzyme in bile acid synthesis.
  • Understanding CYP7 gene variations is crucial for comprehending cholesterol homeostasis.

Purpose of the Study:

  • To isolate and characterize human liver cholesterol 7 alpha-hydroxylase (CYP7) cDNAs.
  • To identify and analyze sequence variations within the CYP7 gene.

Main Methods:

  • Isolation of full-length CYP7 cDNAs from a human liver cDNA library.
  • Nucleotide sequencing to determine cDNA sequences and identify variations.
  • Comparison of identified sequences with previously reported data.

Main Results:

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  • A full-length CYP7 cDNA of 2901 nucleotides encoding a 504-amino acid P450 polypeptide was identified.
  • Two distinct sequences (Phe and Ser) were found at codon 100, suggesting allelic polymorphism.
  • Observed differences in codons 347 and 385 compared to previously published sequences.
  • Conclusions:

    • The identified variations at codon 100 likely represent polymorphisms arising from two different alleles of the human CYP7 gene.
    • These findings contribute to the understanding of genetic diversity in human CYP7 and its implications for cholesterol metabolism.