|  Help  |  About  |  Contact Us

Publication : An essential role for the Zn<sup>2+</sup> transporter ZIP7 in B cell development.

First Author  Anzilotti C Year  2019
Journal  Nat Immunol Volume  20
Issue  3 Pages  350-361
PubMed ID  30718914 Mgi Jnum  J:282388
Mgi Id  MGI:6380779 Doi  10.1038/s41590-018-0295-8
Citation  Anzilotti C, et al. (2019) An essential role for the Zn(2+) transporter ZIP7 in B cell development. Nat Immunol 20(3):350-361
abstractText  Despite the known importance of zinc for human immunity, molecular insights into its roles have remained limited. Here we report a novel autosomal recessive disease characterized by absent B cells, agammaglobulinemia and early onset infections in five unrelated families. The immunodeficiency results from hypomorphic mutations of SLC39A7, which encodes the endoplasmic reticulum-to-cytoplasm zinc transporter ZIP7. Using CRISPR-Cas9 mutagenesis we have precisely modeled ZIP7 deficiency in mice. Homozygosity for a null allele caused embryonic death, but hypomorphic alleles reproduced the block in B cell development seen in patients. B cells from mutant mice exhibited a diminished concentration of cytoplasmic free zinc, increased phosphatase activity and decreased phosphorylation of signaling molecules downstream of the pre-B cell and B cell receptors. Our findings highlight a specific role for cytosolic Zn(2+) in modulating B cell receptor signal strength and positive selection.
Paste the following link
Quick Links:
SummaryExpressionOther
 
Quick Links:
SummaryExpressionOther
 
Lists
This Publication isn't in any lists. Upload a list.

Expression

Publication --> Expression annotations

 

Other

45 Authors

1 Bio Entities

Trail: Publication

0 Expression





MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

© 2002 - 2017 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom