Title
Leaky severe combined immunodeficiency in mice lacking non-homologous end joining factors XLF and MRI
Date Issued
01 December 2020
Access level
open access
Resource Type
journal article
Author(s)
Zhang Q.
Alirezaylavasani A.
Fernandez-Berrocal M.
Yao R.
Oksenych V.
Norwegian University of Science and Technology
Publisher(s)
Impact Journals LLC
Abstract
Non-homologous end-joining (NHEJ) is a DNA repair pathway required to detect, process, and ligate DNA double-stranded breaks (DSBs) throughout the cell cycle. The NHEJ pathway is necessary for V(D)J recombination in developing B and T lymphocytes. During NHEJ, Ku70 and Ku80 form a heterodimer that recognizes DSBs and promotes recruitment and function of downstream factors PAXX, MRI, DNA-PKcs, Artemis, XLF, XRCC4, and LIG4. Mutations in several known NHEJ genes result in severe combined immunodeficiency (SCID). Inactivation of Mri, Paxx or Xlf in mice results in normal or mild phenotype, while combined inactivation of Xlf/Mri, Xlf/Paxx, or Xlf/Dna-pkcs leads to late embryonic lethality. Here, we describe three new mouse models. We demonstrate that deletion of Trp53 rescues embryonic lethality in mice with combined deficiencies of Xlf and Mri. Furthermore, Xlf-/-Mri-/-Trp53+/- and Xlf-/-Paxx-/-Trp53+/- mice possess reduced body weight, severely reduced mature lymphocyte counts, and accumulation of progenitor B cells. We also report that combined inactivation of Mri/Paxx results in live-born mice with modest phenotype, and combined inactivation of Mri/Dna-pkcs results in embryonic lethality. Therefore, we conclude that XLF is functionally redundant with MRI and PAXX during lymphocyte development in vivo. Moreover, Mri genetically interacts with Dna-pkcs and Paxx.
Start page
23578
End page
23597
Volume
12
Issue
23
Language
English
OCDE Knowledge area
Bioquímica, Biología molecular
Inmunología
Subjects
Scopus EID
2-s2.0-85098663479
PubMed ID
Source
Aging
ISSN of the container
19454589
Sponsor(s)
FUNDING This work was supported by the Research Council of Norway Young Talent Investigator grant (#249774) to V.O. In addition, VO group was supported by the Liaison Committee for Education, Research, and Innovation in Central Norway (#13477; #38811); the Norwegian Cancer Society (#182355); the Research Council of Norway FRIMEDBIO grants (#270491 and #291217), and The Outstanding Academic Fellow Program at NTNU (2017-2021). Karolinska Institutet Stiftelser och Fonder (#2020-02155).
This work was supported by the Research Council of Norway Young Talent Investigator grant (#249774) to V.O. In addition, VO group was supported by the Liaison Committee for Education, Research, and Innovation in Central Norway (#13477; #38811); the Norwegian Cancer Society (#182355); the Research Council of Norway FRIMEDBIO grants (#270491 and #291217), and The Outstanding Academic Fellow Program at NTNU (2017–2021). Karolinska Institutet Stiftelser och Fonder (#2020-02155).
Sources of information:
Directorio de Producción Científica
Scopus