Genetic polymorphisms and haplotype structures of the CYP4A22 gene in a Japanese population

Masahiro Hiratsuka, Hisayoshi Nozawa, Yuya Katsumoto, Toshiko Moteki, Takamitsu Sasaki, Yumiko Konno, Michinao Mizugaki

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


The CYP4A fatty acid monooxygenases oxidize endogenous arachidonic acid to 20-hydroxyeicosatetraenoic acid that acts as a regulator of blood pressure. Among the isoforms of the CYP4A subfamily, the human CYP4A22 was recently identified. In this study, we report the comprehensive investigation of polymorphisms in the CYP4A22 gene. To investigate genetic variation in CYP4A22 in 191 Japanese subjects, we used denaturing HPLC (DHPLC) and direct sequencing. Our investigation has enabled the identification of 13 sequence variations in the CYP4A22 coding region, thereby demonstrating for the first time that this gene is subject to polymorphism. Two of these sequence variations correspond to silent mutations located in exons 8 (His323His) and 9 (Gly390Gly). Nine of these sequence variations correspond to missense mutations located in exons 1 (Arg11Cys), 3 (Arg126Trp), 4 (Gly130Ser and Asn152Tyr), 5 (Val185Phe), 6 (Cys231Arg), 7 (Lys276Thr), 10 (Leu428Pro), and 12 (Leu509Phe). One of these sequence variations corresponds to nonsense mutations located in exon 9 (Gln368stop). The 13th mutation corresponds to a nucleotide deletion (G7067del) that causes a frameshift and consequently results in a stop codon 80 nucleotides downstream. In addition to the wild-type CYP4A22*1 allele, 20 variants, namely CYP4A22*2-15, were characterized by haplotype analysis. Based on these data, we concluded that allelic variants of the human CYP4A22 gene exist and speculated that some of these variants may be functionally relevant.

Original languageEnglish
Pages (from-to)98-104
Number of pages7
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Issue number1-2
Publication statusPublished - 2006 Jul 25
Externally publishedYes


  • CYP4A22
  • Denaturing HPLC
  • Genetic polymorphism
  • Haplotype

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis


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