Transcriptomics for investigating immunodeficiencies of mendelian and age-related origins
Transcriptomics for investigating immunodeficiencies of mendelian and age-related origins
The human immune system is responsible for the detection and removal of toxins, pathogens, malignant and senescent cells of the host. Perturbations in the ability of the immune system can come from a variety of origins, including genetic and age-related causes. Using RNAseq to find causal molecular diagnosis for Mendelian disorders has been trialled, but not in a system as complex as the immune system. Here gene expression and alternative splicing investigations are used to investigate the origins of immunodeficiency from these different backgrounds and the vast contribution of alternative splicing dysregulation in the ageing immune system is uncovered.
immunology, immunosenescence, splicing, genomics, transcriptomics
University of Southampton
Lye, Jed
95f6689e-ec36-4c93-a63e-78ac67584ed2
February 2024
Lye, Jed
95f6689e-ec36-4c93-a63e-78ac67584ed2
Baralle, Diana
faac16e5-7928-4801-9811-8b3a9ea4bb91
Williams, Tony
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Douglas, Andrew
2c789ec4-a222-43bc-a040-522ca64fea42
Lye, Jed
(2024)
Transcriptomics for investigating immunodeficiencies of mendelian and age-related origins.
University of Southampton, Doctoral Thesis, 372pp.
Record type:
Thesis
(Doctoral)
Abstract
The human immune system is responsible for the detection and removal of toxins, pathogens, malignant and senescent cells of the host. Perturbations in the ability of the immune system can come from a variety of origins, including genetic and age-related causes. Using RNAseq to find causal molecular diagnosis for Mendelian disorders has been trialled, but not in a system as complex as the immune system. Here gene expression and alternative splicing investigations are used to investigate the origins of immunodeficiency from these different backgrounds and the vast contribution of alternative splicing dysregulation in the ageing immune system is uncovered.
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Submitted date: September 2022
Published date: February 2024
Keywords:
immunology, immunosenescence, splicing, genomics, transcriptomics
Identifiers
Local EPrints ID: 487358
URI: http://eprints.soton.ac.uk/id/eprint/487358
PURE UUID: 0b91e659-8453-4646-824b-153e75c21717
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Date deposited: 19 Feb 2024 21:34
Last modified: 13 Aug 2024 01:42
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Author:
Jed Lye
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