JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
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 wit...
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| Veröffentlicht in: | Nature genetics 2014-09, Vol.46 (9), p.1 |
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| creator | Boztug, Kaan Jarvinen, Paivi M Salzer, Elisabeth Racek, Tomas Monch, Sebastian Garncarz, Wojciech Gertz, E.Michael Schaffer, Alejandro A Antonopoulos, Aristotelis Haslam, Stuart M Schieck, Lena Puchalka, Jacek Diestelhorst, Jana Appaswamy, Giridharan Lescoeur, Brigitte Giambruno, Roberto Bigenzahn, Johannes W Elling, Ulrich Pfeifer, Dietmar Conde, Cecilia Dominguez Albert, Michael H Welte, Karl Brandes, Gudrun Sherkat, Roya van der Werff ten Bosch, Jutte Rezaei, Nima Etzioni, Amos Bellanne-Chantelot, Christine Supe Penninger, Josef M Bennett, Keiryn L von Blume, Julia Dell, Anne Klein, Jean Donadieu &.Christoph |
| description | 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. JAGNI-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. |
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We identify 9 distinct homozygous mutations in the JAGN1 gene encoding Jagunal homolog 1 in 14 individuals with SCN. JAGNI-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.</abstract><pub>Nature Publishing Group</pub></addata></record> |
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| subjects | Development and progression Gene mutations Genetic aspects Identification and classification Neutropenia Properties |
| title | JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia |
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