The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delicate balance of factors controlling the differentiation, maintenance and decay of neutrophils. We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGN1-mutant granulocytes are characterized by ultrastructural defects, a paucity of granules, aberrant N-glycosylation of multiple proteins and increased incidence of apoptosis. JAGN1 participates in the secretory pathway and is required for granulocyte colony-stimulating factor receptor-mediated signaling. JAGN1 emerges as a factor that is necessary in the differentiation and survival of neutrophils.
CITATION STYLE
Boztug, K., Järvinen, P. M., Salzer, E., Racek, T., Mönch, S., Garncarz, W., … Klein, C. (2014). JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nature Genetics, 46(9), 1021–1027. https://doi.org/10.1038/ng.3069
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