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Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).

作者信息

Francke U, Hsieh C L, Foellmer B E, Lomax K J, Malech H L, Leto T L

机构信息

Department of Genetics and Pediatrics, Stanford University Medical Center, CA 94305-5428.

出版信息

Am J Hum Genet. 1990 Sep;47(3):483-92.

PMID:2393022
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683885/
Abstract

Chronic granulomatous disease (CGD) is a heterogeneous group of inherited disorders of impaired superoxide production in phagocytes. The most common X-linked recessive form involves the CYBB locus in band Xp21.1 that encodes the membrane-bound beta subunit of the cytochrome b558 complex. Two autosomal recessive forms of CGD result from defects in cytosolic components of the phagocyte NADPH oxidase system, p47phox (NCF1) and p67phox (NCF2). By using human cDNA probes we have mapped the genes for these proteins to chromosomal sites. The combined data from Southern analysis of somatic cell hybrid lines and chromosomal in situ hybridization localize NCF1 to 7q11.23 and NCF2 to band 1q25. The NCF1 localization corrects an erroneous preliminary assignment to chromosome 10. In the mouse, the locus corresponding to NCF2 (Ncf-2) was mapped with somatic cell hybrid panels and recombinant inbred strains to mouse chromosome 1 near Xmv-21 within a region of conserved homology with human chromosome 1 region q21-q32. A second site, probably a processed pseudogene, was identified on mouse chromosome 13.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/4f6fa639fe36/ajhg00093-0125-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/301c9e880eb3/ajhg00093-0122-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/5fd2a11b6071/ajhg00093-0123-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/6a8e58119569/ajhg00093-0124-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/4a8d878ed8b8/ajhg00093-0125-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/4f6fa639fe36/ajhg00093-0125-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/301c9e880eb3/ajhg00093-0122-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/5fd2a11b6071/ajhg00093-0123-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/6a8e58119569/ajhg00093-0124-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/4a8d878ed8b8/ajhg00093-0125-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/700b/1683885/4f6fa639fe36/ajhg00093-0125-b.jpg

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引用本文的文献

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本文引用的文献

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Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance.慢性肉芽肿病中细胞色素b - 245缺失。一项关于其发病率及相关性的欧洲多中心评估。
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Genetics and immunopathology of chronic granulomatous disease.慢性肉芽肿病的遗传学与免疫病理学
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Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.与人类7号染色体7q11.23区域同源的约3.3兆碱基小鼠基因组序列的生成及比较分析，该区域与威廉姆斯综合征有关。
Genome Res. 2002 Jan;12(1):3-15. doi: 10.1101/gr.214802.
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Chronic granulomatous disease.慢性肉芽肿病
Clin Exp Immunol. 2000 Oct;122(1):1-9. doi: 10.1046/j.1365-2249.2000.01314.x.
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Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.威廉姆斯综合征中人类7号染色体缺失区域的比较图谱
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J Clin Invest. 1985 Mar;75(3):915-20. doi: 10.1172/JCI111792.
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A novel human gene closely related to the abl proto-oncogene.
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The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.X连锁慢性肉芽肿病基因编码细胞色素b - 245的β链。
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8
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex.由X连锁慢性肉芽肿病基因座编码的糖蛋白是中性粒细胞细胞色素b复合物的一个组成部分。
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9
Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.人中性粒细胞细胞色素b 22千道尔顿轻链的一级结构及独特表达
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Coregulation of NADPH oxidase activation and phosphorylation of a 48-kD protein(s) by a cytosolic factor defective in autosomal recessive chronic granulomatous disease.常染色体隐性慢性肉芽肿病中存在缺陷的胞质因子对NADPH氧化酶激活和一种48-kD蛋白磷酸化的共同调节。
J Clin Invest. 1988 May;81(5):1485-96. doi: 10.1172/JCI113480.