RGD Reference Report - JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. - Rat Genome Database

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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Authors: Boztug, K  Jarvinen, PM  Salzer, E  Racek, T  Monch, S  Garncarz, W  Gertz, EM  Schaffer, AA  Antonopoulos, A  Haslam, SM  Schieck, L  Puchalka, J  Diestelhorst, J  Appaswamy, G  Lescoeur, B  Giambruno, R  Bigenzahn, JW  Elling, U  Pfeifer, D  Conde, CD  Albert, MH  Welte, K  Brandes, G  Sherkat, R  Van der Werff Ten Bosch, J  Rezaei, N  Etzioni, A  Bellanne-Chantelot, C  Superti-Furga, G  Penninger, JM  Bennett, KL  Von Blume, J  Dell, A  Donadieu, J  Klein, C 
Citation: Boztug K, etal., Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.
RGD ID: 11531099
Pubmed: (View Article at PubMed) PMID:25129144
DOI: Full-text: DOI:10.1038/ng.3069

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.

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Jagn1  (jagunal homolog 1)

Genes (Mus musculus)
Jagn1  (jagunal homolog 1)

Genes (Homo sapiens)
JAGN1  (jagunal homolog 1)

Additional Information