Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease

Kuijpers, Taco W.; Nguyen, Melanie; Hopman, C. T. P.; Nieuwenhuys, E. J.; Dewald, Georg; Lankester, Arjan C.; Roos, Anja; Ende, Arie van der; Fijen, C. A. P.; Boer, Martin de

doi:10.1016/j.molimm.2009.10.017

Cited by 11 publications

(10 citation statements)

References 33 publications

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“…In a condition known as complement component 7 deficiency, human patients are more susceptible to recurrent infections, particularly to bacterial diseases such as caused by meningococcal infection [47]. …”

Section: Discussionmentioning

confidence: 99%

A linkage map of transcribed single nucleotide polymorphisms in rohu (Labeo rohita) and QTL associated with resistance to Aeromonas hydrophila

Robinson

Baranski²,

Mahapatra

et al. 2014

BMC Genomics

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BackgroundProduction of carp dominates world aquaculture. More than 1.1 million tonnes of rohu carp, Labeo rohita (Hamilton), were produced in 2010. Aeromonas hydrophila is a bacterial pathogen causing aeromoniasis in rohu, and is a major problem for carp production worldwide. There is a need to better understand the genetic mechanisms affecting resistance to this disease, and to develop tools that can be used with selective breeding to improve resistance. Here we use a 6 K SNP array to genotype 21 full-sibling families of L. rohita that were experimentally challenged intra-peritoneally with a virulent strain of A. hydrophila to scan the genome for quantitative trait loci associated with disease resistance.ResultsIn all, 3193 SNPs were found to be informative and were used to create a linkage map and to scan for QTL affecting resistance to A. hydrophila. The linkage map consisted of 25 linkage groups, corresponding to the number of haploid chromosomes in L. rohita. Male and female linkage maps were similar in terms of order, coverage (1384 and 1393 cM, respectively) and average interval distances (1.32 and 1.35 cM, respectively). Forty-one percent of the SNPs were annotated with gene identity using BLAST (cut off E-score of 0.001). Twenty-one SNPs mapping to ten linkage groups showed significant associations with the traits hours of survival and dead or alive (P <0.05 after Bonferroni correction). Of the SNPs showing significant or suggestive associations with the traits, several were homologous to genes of known immune function or were in close linkage to such genes. Genes of interest included heat shock proteins (70, 60, 105 and “small heat shock proteins”), mucin (5b precursor and 2), lectin (receptor and CD22), tributyltin-binding protein, major histocompatibility loci (I and II), complement protein component c7-1, perforin 1, ubiquitin (ligase, factor e4b isoform 2 and conjugation enzyme e2 c), proteasome subunit, T-cell antigen receptor and lymphocyte specific protein tyrosine kinase.ConclusionsA panel of markers has been identified that will be validated for use with both genomic and marker-assisted selection to improve resistance of L. rohita to A. hydrophila.

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Section: Discussionmentioning

confidence: 99%

A linkage map of transcribed single nucleotide polymorphisms in rohu (Labeo rohita) and QTL associated with resistance to Aeromonas hydrophila

Robinson

Baranski²,

Mahapatra

et al. 2014

BMC Genomics

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“…Subsequently, DNA was isolated from the serum of this FSAP‐negative donor as well as from a healthy donor, using a QIAamp DNA Mini kit (Qiagen). Sequence analysis was performed as described by Kuijpers et al (). We found a homozygous nonsense mutation in which an arginine with a stop codon (c.607C>T p.R203X) had been substituted, which led to a truncated protein lacking activity.…”

Section: Methodsmentioning

confidence: 99%

Cooperation of Factor VII–Activating Protease and Serum DNase I in the Release of Nucleosomes From Necrotic Cells

Stephan

Marsman

Bakker

et al. 2014

Arthritis & Rheumatology

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Objective. Removal of dead cells is essential in the maintenance of tissue homeostasis, and efficient removal prevents exposure of intracellular content to the immune system, which could lead to autoimmunity. The plasma protease factor VII-activating protease (FSAP) can release nucleosomes from late apoptotic cells. FSAP circulates as an inactive single-chain protein, which is activated upon contact with either apoptotic cells or necrotic cells. The purpose of this study was to investigate the role of FSAP in the release of nucleosomes from necrotic cells.Methods. Necrotic Jurkat cells were incubated with serum, purified 2-chain FSAP, and/or DNase I. Nucleosome release was analyzed by flow cytometry, and agarose gel electrophoresis was performed to detect DNA breakdown.Results. Incubation with serum released nucleosomes from necrotic cells. Incubation with FSAPdeficient serum or serum in which FSAP was inhibited by a blocking antibody was unable to release nucleosomes from necrotic cells, confirming that FSAP is indeed the essential serum factor in this process. Together with serum DNase I, FSAP induced the release of DNA from the cells, the appearance of nucleosomes in the supernatant, and the fragmentation of chromatin into eventually mononucleosomes.Conclusion. FSAP and DNase I are the essential serum factors that cooperate in necrotic cell DNA degradation and nucleosome release. We propose that this mechanism may be important in the removal of potential autoantigens.

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“…While deficiencies in the terminal complement factors such as C7 are associated with Neisseria meningitidis infections [15], their function in mycobacterial infections is unknown. These studies indicate a role for complement C7 in the development of lung immunopathology caused by infection with MTB.…”

Section: Discussionmentioning

confidence: 99%

Complement Factor C7 Contributes to Lung Immunopathology Caused byMycobacterium tuberculosis

Welsh¹,

Lewis²,

Boyd³

et al. 2012

Clinical and Developmental Immunology

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Mycobacterium tuberculosis (MTB) remains a significant global health burden despite the availability of antimicrobial chemotherapy. Increasing evidence indicates a critical role of the complement system in the development of host protection against the bacillus, but few studies have specifically explored the function of the terminal complement factors. Mice deficient in complement C7 and wild-type C57BL/6 mice were aerosol challenged with MTB Erdman and assessed for bacterial burden, histopathology, and lung cytokine responses at days 30 and 60 post-infection. Macrophages isolated from C7 −/− and wild-type mice were evaluated for MTB proliferation and cytokine production. C7 −/− mice had significantly less liver colony forming units (CFUs) at day 30; no differences were noted in lung CFUs. The C7 deficient mice had markedly reduced lung occlusion with significantly increased total lymphocytes, decreased macrophages, and increased numbers of CD4+ cells 60 days post-infection. Expression of lung IFN-γ and TNF-α was increased at day 60 compared to wild-type mice. There were no differences in MTB-proliferation in macrophages isolated from wild-type and knock-out mice. These results indicate a role for complement C7 in the development of MTB induced immunopathology which warrants further investigation.

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Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease

Cited by 11 publications

References 33 publications

A linkage map of transcribed single nucleotide polymorphisms in rohu (Labeo rohita) and QTL associated with resistance to Aeromonas hydrophila

A linkage map of transcribed single nucleotide polymorphisms in rohu (Labeo rohita) and QTL associated with resistance to Aeromonas hydrophila

Cooperation of Factor VII–Activating Protease and Serum DNase I in the Release of Nucleosomes From Necrotic Cells

Complement Factor C7 Contributes to Lung Immunopathology Caused byMycobacterium tuberculosis

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