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Related Concept Videos

Complement System01:27

Complement System

The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a membrane...
Complementation Tests00:49

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A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
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Histone Variants at the Centromere02:30

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Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3 variants are also...
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Protein Complexes with Interchangeable Parts01:57

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Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
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Related Experiment Video

Updated: May 21, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

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Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.

Elena Volokhina1, Dineke Westra, Xiaoguang Xue

  • 1Department of Pediatric Nephrology (804), Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

Pediatric Nephrology (Berlin, Germany)
|June 7, 2012
PubMed
Summary

A novel C3 gene mutation (p.Lys65Gln) was identified in atypical hemolytic uremic syndrome (aHUS) patients, leading to reduced C3b binding to factor H. This finding may help predict aHUS recurrence post-kidney transplant.

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Published on: June 15, 2019

Area of Science:

  • Complement system genetics
  • Nephrology
  • Rare disease research

Background:

  • Atypical hemolytic uremic syndrome (aHUS) involves complement system dysregulation, often leading to kidney failure.
  • Genetic factors and autoantibodies against complement factor H (CFH) are implicated in aHUS.
  • Prognostic DNA analysis of risk genes is crucial for managing aHUS recurrence after renal transplantation.

Purpose of the Study:

  • To investigate the role of mutations in the C3 gene, encoding a central complement component, in aHUS patients.
  • To analyze the functional impact of identified C3 mutations on complement factor H (CFH) binding.

Main Methods:

  • Sanger sequencing was used to screen the C3 gene in 70 aHUS patients.
  • Recombinant C3b proteins (mutated and wild type) were produced.
  • Enzyme-linked immunosorbent assay (ELISA) was employed to analyze the binding affinity of C3b to CFH.

Main Results:

  • A novel missense mutation, p.Lys65Gln in C3, was identified in three adult aHUS patients.
  • This mutation resulted in decreased binding of C3b to CFH in vitro.
  • All affected patients experienced aHUS after kidney transplantation or disease recurrence post-transplant.

Conclusions:

  • The identified C3 p.Lys65Gln mutation impairs C3b binding to CFH, potentially disrupting C3b inactivation.
  • This mutation is likely associated with aHUS development or recurrence following kidney transplantation.
  • The p.Lys65Gln C3 variant may serve as a significant prognostic marker for aHUS post-transplant.