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

Research output: Contribution to journalArticle

59 Citations (Scopus)

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 - Jan 1 1987

Fingerprint

Steroid 21-Hydroxylase
Congenital Adrenal Hyperplasia
Gene Conversion
Pseudogenes
Genes
HLA-B39 Antigen
Wasting Syndrome
Restriction Mapping
DNA
DNA Restriction Enzymes
Southern Blotting
Nucleotides
Salts
Chromosomes
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

All Science Journal Classification (ASJC) codes

  • General

Cite this

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. / Harada, F.; Kimura, A.; Iwanaga, T.; Shimozawa, K.; Yata, J.; Sasazuki, T.

In: Proceedings of the National Academy of Sciences of the United States of America, Vol. 84, No. 22, 01.01.1987, p. 8091-8094.

Research output: Contribution to journalArticle

Harada, F. ; Kimura, A. ; Iwanaga, T. ; Shimozawa, K. ; Yata, J. ; Sasazuki, T. / Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia. In: Proceedings of the National Academy of Sciences of the United States of America. 1987 ; Vol. 84, No. 22. pp. 8091-8094.
@article{a5a781e20be24fcdad34a3fdf8a63f5f,
title = "Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia",
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.",
author = "F. Harada and A. Kimura and T. Iwanaga and K. Shimozawa and J. Yata and T. Sasazuki",
year = "1987",
month = "1",
day = "1",
doi = "10.1073/pnas.84.22.8091",
language = "English",
volume = "84",
pages = "8091--8094",
journal = "Proceedings of the National Academy of Sciences of the United States of America",
issn = "0027-8424",
number = "22",

}

TY - JOUR

T1 - Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

AU - Harada, F.

AU - Kimura, A.

AU - Iwanaga, T.

AU - Shimozawa, K.

AU - Yata, J.

AU - Sasazuki, T.

PY - 1987/1/1

Y1 - 1987/1/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0023623002&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023623002&partnerID=8YFLogxK

U2 - 10.1073/pnas.84.22.8091

DO - 10.1073/pnas.84.22.8091

M3 - Article

C2 - 3500473

AN - SCOPUS:0023623002

VL - 84

SP - 8091

EP - 8094

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

SN - 0027-8424

IS - 22

ER -