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FBXO7 sensitivity of phenotypic traits elucidated by a hypomorphic allele.

Published version
Peer-reviewed

Type

Article

Change log

Authors

Ballesteros Reviriego, Carmen 
Clare, Simon 
Arends, Mark J 
Cambridge, Emma L 
Swiatkowska, Agnieszka 

Abstract

FBXO7 encodes an F box containing protein that interacts with multiple partners to facilitate numerous cellular processes and has a canonical role as part of an SCF E3 ubiquitin ligase complex. Mutation of FBXO7 is responsible for an early onset Parkinsonian pyramidal syndrome and genome-wide association studies have linked variants in FBXO7 to erythroid traits. A putative orthologue in Drosophila, nutcracker, has been shown to regulate the proteasome, and deficiency of nutcracker results in male infertility. Therefore, we reasoned that modulating Fbxo7 levels in a murine model could provide insights into the role of this protein in mammals. We used a targeted gene trap model which retained 4-16% residual gene expression and assessed the sensitivity of phenotypic traits to gene dosage. Fbxo7 hypomorphs showed regenerative anaemia associated with a shorter erythrocyte half-life, and male mice were infertile. Alterations to T cell phenotypes were also observed, which intriguingly were both T cell intrinsic and extrinsic. Hypomorphic mice were also sensitive to infection with Salmonella, succumbing to a normally sublethal challenge. Despite these phenotypes, Fbxo7 hypomorphs were produced at a normal Mendelian ratio with a normal lifespan and no evidence of neurological symptoms. These data suggest that erythrocyte survival, T cell development and spermatogenesis are particularly sensitive to Fbxo7 gene dosage.

Description

Keywords

Alleles, Animals, F-Box Proteins, Gene Dosage, Gene Expression Regulation, Infertility, Male, Male, Mice, Mice, Transgenic, Quantitative Trait, Heritable, Salmonella, Salmonella Infections, Spermatogenesis

Journal Title

PLoS One

Conference Name

Journal ISSN

1932-6203
1932-6203

Volume Title

14

Publisher

Public Library of Science (PLoS)