Polymorphisms of human cholesterol 7α-hydroxylase

WG Karam, JYL Chiang - Biochemical and biophysical research …, 1992 - Elsevier
WG Karam, JYL Chiang
Biochemical and biophysical research communications, 1992Elsevier
Human liver cholesterol 7α-hydroxylase (CYP7) cDNAs were isolated from a human liver
cDNA library. A full-length cDNA has 2901 nucleotides which encode a typical P450
polypeptide of 504 amino acid residues. Two different sequences of codon 100, TTT (Phe)
and TCT (Ser), were identified in cDNA clones. In addition, codons 347 and 385 are GAT
(Asp) and GAC (Asp) in all cDNA clones, whereas those reported previously (FEBS Lett.
268, 137–140, 1990) are A AT (Asn) and AG C (Ser), respectively. Since there is only one 7α …
Human liver cholesterol 7α-hydroxylase (CYP7) cDNAs were isolated from a human liver cDNA library. A full-length cDNA has 2901 nucleotides which encode a typical P450 polypeptide of 504 amino acid residues. Two different sequences of codon 100, TTT (Phe) and TCT (Ser), were identified in cDNA clones. In addition, codons 347 and 385 are GAT (Asp) and GAC (Asp) in all cDNA clones, whereas those reported previously (FEBS Lett. 268, 137–140, 1990) are A AT (Asn) and AG C (Ser), respectively. Since there is only one 7α-hydroxylase gene in the human genome, it is likely that polymorphisms at the codon 100 of cDNA clones arise from two different alleles in the 7α-hydroxylase gene of this human liver.
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