Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

F. Harada, A. Kimura, T. Iwanaga, K. Shimozawa, J. Yata, T. Sasazuki

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Abstract

Genomic DNAs from twelve Japanese patients with steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid, hydrogen-donor:oxygen oxidoreductase (21-hydroxylating); EC 1.14.99.10] deficiency were analyzed by Southern blot hybridization. A 3.7-kilobase (kb) Taq I and a 1.7-kb Pvu II restriction endonuclease fragment that correspond to a 21-OHase B gene were absent from the DNA of two unrelated patients with the salt-wasting form of the disease. However, a 10.5-kb Bgl II fragment corresponding to the region encompassing the 21-OHase B gene was still present in these two patients. The genes encoding 21-OHase were cloned from one of these two patients, who was homozygous by descent for HLA-A26;B39;C4A3;C4B1;DR4. Restriction endonuclease mapping as well as partial nucleotide sequencing analysis revealed that the 21-OHase B gene of the patient has been converted to the pseudogene, 21-OHase A, as far as the critical 0.5-kb sequence was concerned. Thus, the defect was due to both chromosomes each carrying two copies of 21-OHase A pseudogene and lacking functional 21-OHase B gene.

Original languageEnglish
Pages (from-to)8091-8094
Number of pages4
JournalProceedings of the National Academy of Sciences of the United States of America
Volume84
Issue number22
DOIs
Publication statusPublished - 1987

All Science Journal Classification (ASJC) codes

  • General

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