Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression

@article{Nagelkerke2015NonallelicHR,
  title={Nonallelic homologous recombination of the FCGR2/3 locus results in copy number variation and novel chimeric FCGR2 genes with aberrant functional expression},
  author={Sietse Quirijn Nagelkerke and Carline E. A. Tacke and Willemijn B. Breunis and J. H. W. Geissler and Joep W R Sins and Bart Appelhof and Timo K. van den Berg and Martin de Boer and Taco Willem Kuijpers},
  journal={Genes and Immunity},
  year={2015},
  volume={16},
  pages={422-429}
}
The human FCGR2/3 locus, containing five highly homologous genes encoding the major IgG receptors, shows extensive copy number variation (CNV) associated with susceptibility to autoimmune diseases. Having genotyped >4000 individuals, we show that all CNV at this locus can be explained by nonallelic homologous recombination (NAHR) of the two paralogous repeats that constitute the majority of the locus, and describe four distinct CNV regions (CNRs) with a highly variable prevalence in the… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 1 time over the past 90 days. VIEW TWEETS