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High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.

Accepted version
Peer-reviewed

Type

Article

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Authors

Abeler-Dörner, Lucie 
Laing, Adam G 
Ushakov, Dmitry S 
Clare, Simon 

Abstract

By developing a high-density murine immunophenotyping platform compatible with high-throughput genetic screening, we have established profound contributions of genetics and structure to immune variation (http://www.immunophenotype.org). Specifically, high-throughput phenotyping of 530 unique mouse gene knockouts identified 140 monogenic 'hits', of which most had no previous immunologic association. Furthermore, hits were collectively enriched in genes for which humans show poor tolerance to loss of function. The immunophenotyping platform also exposed dense correlation networks linking immune parameters with each other and with specific physiologic traits. Such linkages limit freedom of movement for individual immune parameters, thereby imposing genetically regulated 'immunologic structures', the integrity of which was associated with immunocompetence. Hence, we provide an expanded genetic resource and structural perspective for understanding and monitoring immune variation in health and disease.

Description

Keywords

Animals, Citrobacter, Enterobacteriaceae Infections, Female, Genetic Variation, High-Throughput Screening Assays, Humans, Immunophenotyping, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Models, Animal, Salmonella, Salmonella Infections

Journal Title

Nat Immunol

Conference Name

Journal ISSN

1529-2908
1529-2916

Volume Title

21

Publisher

Springer Science and Business Media LLC
Sponsorship
Cambridge University Hospitals NHS Foundation Trust (CUH) (BRC)
Wellcome Trust (100156/Z/12/Z)