Gene conversion in steroid 21-hydroxylase genes

K. Urabe, A. Kimura, F. Harada, T. Iwanaga, Takehiko Sasazuki

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

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 muations, 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
Volume46
Issue number6
Publication statusPublished - Jun 12 1990

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Steroid 21-Hydroxylase
Gene Conversion
Genes
HLA-B44 Antigen
Exons
Pseudogenes
Terminator Codon
Hydroxylation
Haplotypes
Population

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Urabe, K., Kimura, A., Harada, F., Iwanaga, T., & Sasazuki, T. (1990). Gene conversion in steroid 21-hydroxylase genes. American journal of human genetics, 46(6), 1178-1186.

Gene conversion in steroid 21-hydroxylase genes. / Urabe, K.; Kimura, A.; Harada, F.; Iwanaga, T.; Sasazuki, Takehiko.

In: American journal of human genetics, Vol. 46, No. 6, 12.06.1990, p. 1178-1186.

Research output: Contribution to journalArticle

Urabe, K, Kimura, A, Harada, F, Iwanaga, T & Sasazuki, T 1990, 'Gene conversion in steroid 21-hydroxylase genes', American journal of human genetics, vol. 46, no. 6, pp. 1178-1186.
Urabe K, Kimura A, Harada F, Iwanaga T, Sasazuki T. Gene conversion in steroid 21-hydroxylase genes. American journal of human genetics. 1990 Jun 12;46(6):1178-1186.
Urabe, K. ; Kimura, A. ; Harada, F. ; Iwanaga, T. ; Sasazuki, Takehiko. / Gene conversion in steroid 21-hydroxylase genes. In: American journal of human genetics. 1990 ; Vol. 46, No. 6. pp. 1178-1186.
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