An essential role for the Zn2+ transporter ZIP7 in B cell development
File(s)ZIP7 manu 260918_ALL combined.pdf (3.77 MB)
Accepted version
Author(s)
Type
Journal Article
Abstract
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 Zn2+ in modulating B cell receptor signal strength and positive selection.
Date Issued
2019-03
Date Acceptance
2018-12-05
Citation
Nature Immunology, 2019, 20, pp.350-361
ISSN
1529-2908
Publisher
Nature Research
Start Page
350
End Page
361
Journal / Book Title
Nature Immunology
Volume
20
Copyright Statement
© 2019 The Author(s), under exclusive licence to Springer Nature America, Inc. The final publication is available at Springer Nature via https://dx.doi.org/10.1038/s41590-018-0295-8
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/30718914
PII: 10.1038/s41590-018-0295-8
Subjects
1107 Immunology
Immunology
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2019-02-04