Title |
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
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Published in |
Nature Genetics, September 2014
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DOI | 10.1038/ng.3069 |
Pubmed ID | |
Authors |
Kaan Boztug, Päivi M Järvinen, Elisabeth Salzer, Tomas Racek, Sebastian Mönch, Wojciech Garncarz, E Michael Gertz, Alejandro A Schäffer, Aristotelis Antonopoulos, Stuart M Haslam, Lena Schieck, Jacek Puchałka, Jana Diestelhorst, Giridharan Appaswamy, Brigitte Lescoeur, Roberto Giambruno, Johannes W Bigenzahn, Ulrich Elling, Dietmar Pfeifer, Cecilia Domínguez Conde, Michael H Albert, Karl Welte, Gudrun Brandes, Roya Sherkat, Jutte van der Werff ten Bosch, Nima Rezaei, Amos Etzioni, Christine Bellanné-Chantelot, Giulio Superti-Furga, Josef M Penninger, Keiryn L Bennett, Julia von Blume, Anne Dell, Jean Donadieu, Christoph Klein |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 2 | 33% |
Austria | 1 | 17% |
United Kingdom | 1 | 17% |
Unknown | 2 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 4 | 67% |
Scientists | 2 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Germany | 1 | <1% |
Unknown | 117 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 25 | 21% |
Student > Ph. D. Student | 20 | 17% |
Other | 12 | 10% |
Student > Master | 12 | 10% |
Student > Bachelor | 8 | 7% |
Other | 22 | 19% |
Unknown | 19 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 26 | 22% |
Medicine and Dentistry | 25 | 21% |
Biochemistry, Genetics and Molecular Biology | 23 | 19% |
Immunology and Microbiology | 9 | 8% |
Neuroscience | 2 | 2% |
Other | 10 | 8% |
Unknown | 23 | 19% |