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Assignment of the functional gene for human adrenodoxin to chromosome 11q13----qter and of adrenodoxin pseudogenes to chromosome 20cen----q13.1.

作者信息

Morel Y, Picado-Leonard J, Wu D A, Chang C Y, Mohandas T K, Chung B C, Miller W L

机构信息

Department of Pediatrics, University of California, San Francisco 94143.

出版信息

Am J Hum Genet. 1988 Jul;43(1):52-9.

PMID:2837084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715281/
Abstract

Adrenodoxin is a small iron/sulfur protein serving as an electron-transport intermediate for all mitochondrial forms of cytochrome P450. Southern blots of normal genomic DNA cleaved with six restriction endonucleases probed with full-length human adrenodoxin cDNA revealed complex patterns indicating the presence of multiple adrenodoxin genes. Southern blots of DNA from a panel of mouse/human somatic cell hybrids identified cross-hybridizing adrenodoxin DNA in two loci, chromosome 11q13----qter and chromosome 20cen----q13.1. Examination of adrenodoxin clones from a genomic DNA library in phage lambda revealed some clones bearing gene fragments interrupted by introns and other clones bearing processed pseudogenes. By probing the mouse/human hybrids with unique intronic DNA and by correlating restriction maps of the phage clones with that of uncloned genomic DNA, we show that the authentic transcribed adrenodoxin gene lies on chromosome 11, while pseudogenes lie on chromosome 20.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/745387afd62e/ajhg00117-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/496593bc680d/ajhg00117-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/5267296f5f7b/ajhg00117-0060-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/41642defa843/ajhg00117-0060-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/a01c5e82d263/ajhg00117-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/745387afd62e/ajhg00117-0063-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/496593bc680d/ajhg00117-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/5267296f5f7b/ajhg00117-0060-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/41642defa843/ajhg00117-0060-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/a01c5e82d263/ajhg00117-0061-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c906/1715281/745387afd62e/ajhg00117-0063-a.jpg

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Am J Hum Genet. 1988 Jul;43(1):52-9.
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Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues.

本文引用的文献

1
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin.人类α-珠蛋白α1和α2基因座的同源性与协同进化。
Nature. 1981 Mar 5;290(5801):26-9. doi: 10.1038/290026a0.
2
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man.人类X染色体失活状态下X连锁基因在人-鼠杂交细胞中的表达：关于人类类固醇硫酸酯酶基因座未失活的进一步证据
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6759-63. doi: 10.1073/pnas.77.11.6759.
3
Isolation of genomic clones homologous to transcribed sequences from human X chromosome.
人肾上腺皮质铁氧化还原蛋白还原酶：由位于17号染色体cen----q25上的单个基因编码的两种mRNA在类固醇生成组织中表达。
Proc Natl Acad Sci U S A. 1988 Oct;85(19):7104-8. doi: 10.1073/pnas.85.19.7104.
4
Cloning and sequence of the human adrenodoxin reductase gene.人类肾上腺皮质铁氧化还原蛋白还原酶基因的克隆与序列分析
Proc Natl Acad Sci U S A. 1990 Nov;87(21):8516-20. doi: 10.1073/pnas.87.21.8516.
5
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.胆汁酸生物合成酶固醇27-羟化酶的突变是脑腱黄瘤病的基础。
J Biol Chem. 1991 Apr 25;266(12):7779-83.
6
Mapping autosomal recessive vitamin D dependency type I to chromosome 12q14 by linkage analysis.通过连锁分析将常染色体隐性遗传性I型维生素D依赖症定位到12号染色体q14区域。
Am J Hum Genet. 1990 Jul;47(1):28-36.
7
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.先天性类脂质性肾上腺增生中胆固醇侧链裂解酶P450scc的正常基因。
J Clin Invest. 1991 Dec;88(6):1955-62. doi: 10.1172/JCI115520.
8
Steroid enzyme defects leading to male pseudohermaphroditism.导致男性假两性畸形的类固醇酶缺陷。
Indian J Pediatr. 1992 Jul-Aug;59(4):501-14. doi: 10.1007/BF02751568.
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Proc Natl Acad Sci U S A. 1992 May 1;89(9):4099-103. doi: 10.1073/pnas.89.9.4099.
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4
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8
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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.人类染色体中串联排列的两个类固醇21-羟化酶基因的完整核苷酸序列：一个假基因和一个功能基因。
Proc Natl Acad Sci U S A. 1986 May;83(9):2841-5. doi: 10.1073/pnas.83.9.2841.