Literature DB >> 1971153

Gene conversion in steroid 21-hydroxylase genes.

K Urabe1, A Kimura, F Harada, T Iwanaga, T Sasazuki.   

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 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.

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Year:  1990        PMID： 1971153      PMCID： PMC1683832     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  37 in total

1.  Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency.

Authors:  Y Higashi; A Tanae; H Inoue; Y Fujii-Kuriyama
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

Review 2.  Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia.

Authors:  W L Miller
Journal:  Am J Hum Genet       Date:  1988-01       Impact factor: 11.025

3.  Structure and expression of a mouse major histocompatibility antigen gene, H-2Ld.

Authors:  G A Evans; D H Margulies; R D Camerini-Otero; K Ozato; J G Seidman
Journal:  Proc Natl Acad Sci U S A       Date:  1982-03       Impact factor: 11.205

4.  Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

Authors:  Y Higashi; A Tanae; H Inoue; T Hiromasa; Y Fujii-Kuriyama
Journal:  Proc Natl Acad Sci U S A       Date:  1988-10       Impact factor: 11.205

5.  Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.

Authors:  P W Speiser; M I New; P C White
Journal:  N Engl J Med       Date:  1988-07-07       Impact factor: 91.245

6.  Nonsense mutation causing steroid 21-hydroxylase deficiency.

Authors:  H Globerman; M Amor; K L Parker; M I New; P C White
Journal:  J Clin Invest       Date:  1988-07       Impact factor: 14.808

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

Authors:  F Harada; A Kimura; T Iwanaga; K Shimozawa; J Yata; T Sasazuki
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

8.  Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Authors:  S Y Pang; M A Wallace; L Hofman; H C Thuline; C Dorche; I C Lyon; R H Dobbins; S Kling; K Fujieda; S Suwa
Journal:  Pediatrics       Date:  1988-06       Impact factor: 7.124

9.  Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

Authors:  M Amor; K L Parker; H Globerman; M I New; P C White
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

10.  Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.

Authors:  N R Rodrigues; I Dunham; C Y Yu; M C Carroll; R R Porter; R D Campbell
Journal:  EMBO J       Date:  1987-06       Impact factor: 11.598
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  16 in total

Review 1.  The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.

Authors:  Hsien-Hsiung Lee
Journal:  J Hum Genet       Date:  2004-01-17       Impact factor: 3.172

2.  Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.

Authors:  L Chen; X Pan; Y Shen; Z Chen; Y Zhang; R Chen
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

3.  A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease.

Authors:  A Görlach; P L Lee; J Roesler; P J Hopkins; B Christensen; E D Green; S J Chanock; J T Curnutte
Journal:  J Clin Invest       Date:  1997-10-15       Impact factor: 14.808

4.  Influence of aberrant observations on high-resolution linkage analysis outcomes.

Authors:  K H Buetow
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

5.  Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Authors:  E Hahnen; J Schönling; S Rudnik-Schöneborn; K Zerres; B Wirth
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

Review 6.  The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.

Authors:  Walter L Miller; Richard J Auchus
Journal:  Endocr Rev       Date:  2010-11-04       Impact factor: 19.871

7.  Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.

Authors:  P Balraj; P G Lim; H Sidek; L L Wu; A S B Khoo
Journal:  J Endocrinol Invest       Date:  2012-10-01       Impact factor: 4.256

8.  Evolutionary origin of mutations in the primate cytochrome P450c21 gene.

Authors:  H Kawaguchi; C O'hUigin; J Klein
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

9.  Molecular, genetic and biochemical characterization of lactate dehydrogenase-A enzyme activity mutations in Mus musculus.

Authors:  W Pretsch; B Chatterjee; J Favor; S Merkle; R Sandulache
Journal:  Mamm Genome       Date:  1998-02       Impact factor: 2.957

10.  von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

Authors:  L Holmberg; J A Dent; R Schneppenheim; U Budde; J Ware; Z M Ruggeri
Journal:  J Clin Invest       Date:  1993-05       Impact factor: 14.808
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