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Sunderland Repository records the research produced by the University of Sunderland including practice-based research and theses.

An essential role for the Zn transporter ZIP7 in B cell development.

Anzilotti, Consuelo, Swan, David, Boisson, Bertrand, Deobagkar-Lele, Mukta, Oliveira, Catarina, Chabosseau, Pauline, Engelhardt, Karin R, Xu, Xijin, Chen, Rui, Alvarez, Luis, Berlinguer-Palmini, Rolando, Bull, Katherine R, Cawthorne, Eleanor, Cribbs, Adam P, Crockford, Tanya L, Dang, Tarana Singh, Fearn, Amy, Fenech, Emma J, de Jong, Sarah J, Lagerholm, B Christoffer, Ma, Cindy S, Sims, David, van den Berg, Bert, Xu, Yaobo, Cant, Andrew J, Kleiner, Gary, Leahy, T Ronan, de la Morena, M Teresa, Puck, Jennifer M, Shapiro, Ralph S, van der Burg, Mirjam, Chapman, J Ross, Christianson, John C, Davies, Benjamin, McGrath, John A, Przyborski, Stefan, Santibanez Koref, Mauro, Tangye, Stuart G, Werner, Andreas, Rutter, Guy A, Padilla-Parra, Sergi, Casanova, Jean-Laurent, Cornall, Richard J, Conley, Mary Ellen and Hambleton, Sophie (2019) An essential role for the Zn transporter ZIP7 in B cell development. Nature immunology, 20 (3). pp. 350-361. ISSN 1529-2916

Item Type: Article


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 in modulating B cell receptor signal strength and positive selection.

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Depositing User: David Swan


Item ID: 16668
Identification Number:
ISSN: 1529-2916
Official URL:

Users with ORCIDS

ORCID for David Swan: ORCID iD

Catalogue record

Date Deposited: 05 Oct 2023 12:50
Last Modified: 09 Oct 2023 09:41


Author: David Swan ORCID iD
Author: Consuelo Anzilotti
Author: Bertrand Boisson
Author: Mukta Deobagkar-Lele
Author: Catarina Oliveira
Author: Pauline Chabosseau
Author: Karin R Engelhardt
Author: Xijin Xu
Author: Rui Chen
Author: Luis Alvarez
Author: Rolando Berlinguer-Palmini
Author: Katherine R Bull
Author: Eleanor Cawthorne
Author: Adam P Cribbs
Author: Tanya L Crockford
Author: Tarana Singh Dang
Author: Amy Fearn
Author: Emma J Fenech
Author: Sarah J de Jong
Author: B Christoffer Lagerholm
Author: Cindy S Ma
Author: David Sims
Author: Bert van den Berg
Author: Yaobo Xu
Author: Andrew J Cant
Author: Gary Kleiner
Author: T Ronan Leahy
Author: M Teresa de la Morena
Author: Jennifer M Puck
Author: Ralph S Shapiro
Author: Mirjam van der Burg
Author: J Ross Chapman
Author: John C Christianson
Author: Benjamin Davies
Author: John A McGrath
Author: Stefan Przyborski
Author: Mauro Santibanez Koref
Author: Stuart G Tangye
Author: Andreas Werner
Author: Guy A Rutter
Author: Sergi Padilla-Parra
Author: Jean-Laurent Casanova
Author: Richard J Cornall
Author: Mary Ellen Conley
Author: Sophie Hambleton

University Divisions

Faculty of Health Sciences and Wellbeing > School of Medicine


Sciences > Biomedical Sciences

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