ArticleBMC genetics2010
A copy number variation in human NCF1 and its pseudogenes.
Article in BMC genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 34 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.International journal of molecular sciences · 2025Article
- Gene editing of NCF1 loci is associated with homologous recombination and chromosomal rearrangements.Communications biology · 2024Article
- Low C4A copy numbers and higher HERV gene insertion contributes to increased risk of SLE, with absence of association with disease phenotype and disease activity.Immunologic research · 2024Article
- Subcutaneous adipose tissue alteration in aging process associated with thyroid hormone signaling.BMC medical genomics · 2023Article
- Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency.Nucleic acids research · 2022Article
- Transcriptomic Analysis ofFrontiers in cellular and infection microbiology · 2021Article
- Differential Transgene Silencing of Myeloid-Specific Promoters in theHuman gene therapy · 2020Article
- Article
- Gene expression patterns of chicken neuregulin 3 in association with copy number variation and frameshift deletion.BMC genetics · 2017Article
- Gene-edited pseudogene resurrection corrects p47Blood advances · 2017Article
- Genetic disorders coupled to ROS deficiency.Redox biology · 2015Review
- Diabetes, renal and cardiovascular disease in p47 phox-/- chronic granulomatous disease.Journal of clinical immunology · 2013Article
- Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.Journal of clinical immunology · 2012Article
- Copy number variations of the ATP-binding cassette transporter ABCC6 gene and its pseudogenes.BMC research notes · 2012Article
- Functional pseudogenes inhibit the superoxide production.Precision medicineArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNeutrophil cytosolic factor-1 (NCF1) is a component of NADPH oxidase. The NCF1 gene colocalizes with two pseudogenes (NCF1B and NCF1C). These two pseudogenes have a GT deletion in exon 2, resulting in a frameshift and an early stop codon. Here, we report a copy number variation (CNV) of the NCF1 pseudogenes and their alternative spliced expressions.
resultsWe examined three normal populations (86 individuals). We observed the 2:2:2 pattern (NCF1B:NCF1:NCF1C) in only 26 individuals. On average, each African- American has 1.4 +/- 0.8 (Mean +/- SD) copies of NCF1B and 2.3 +/- 0.6 copies of NCF1C; each Caucasian has 1.8 +/- 0.7 copies of NCF1B and 1.9 +/- 0.4 copies of NCF1C; and each Mexican has 1.6 +/- 0.6 copies of NCF1B and 1.0 +/- 0.4 copies of NCF1C. Mexicans have significantly less NCF1C copies than African-Americans (p = 6e-15) and Caucasians (p = 3e-11). Mendelian transmission of this CNV was observed in two CEPH pedigrees. Moreover, we cloned two alternative spliced transcripts generated from these two pseudogenes that adopt alternative exon-2 instead of their defective exon 2. The NCF1 pseudogene expression responded robustly to PMA induction during macrophage differentiation. NCF1B decreased from 32.9% to 8.3% in the cDNA pool transcribed from 3 gene copies. NCF1Psis also displayed distinct expression patterns in different human tissues.
conclusionsOur results suggest that these two pseudogenes may adopt an alternative exon-2 in different tissues and in response to external stimuli. The GT deletion is insufficient to define them as functionless pseudogenes; this CNV may have biological relevance.
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