Gene conversion in steroid 21-hydroxylase genes

Kazunori Urabe, Akinori Kimura, Fumiki Harada, Tomohisa Iwanaga, Takehiko Sasazuki

Research output: Contribution to journalArticlepeer-review

49 Citations (Scopus)


The steroid 21-hydroxylase gene, CYP21B, encodes cytochrome P450c21, which mediates 21-hydroxylation. The gene is located about 30 kb downstream from pseudogene CYP21A. The CYP21A gene is homologous to the CYP21B gene but contains some mutations, including a C→T change which leads a termination codon, TAG, in the eighth exon. We found the same change in a mutant CYP21B gene isolated from a patient with 21-hydroxylase deficiency. Furthermore, a reciprocal change - i.e., a T→C change in the eighth exon of the CYP21A gene - was observed in the Japanese population and was associated with the two HLA haplotypes, HLA-B44-DRw13 and HLA-Bw46-DRw8. These changes may be considered the result of gene conversion-like events.

Original languageEnglish
Pages (from-to)1178-1186
Number of pages9
JournalAmerican journal of human genetics
Issue number6
Publication statusPublished - Jun 1990
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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