Projects per year
Abstract
## This item has been replaced by the one which can be found at https://datashare.ed.ac.uk/handle/10283/4088 ## Post-translational modifications (PTMs) diversify protein functions and dynamically coordinate their signalling networks, influencing most aspects of cell physiology. Nevertheless, their genetic regulation or influence on complex traits is not fully understood. Here, we compare for the first time the genetic regulation of the same PTM of two proteins – glycosylation of transferrin and immunoglobulin G (IgG). By performing genome-wide association analysis of transferrin glycosylation, we identified 10 significantly associated loci, all novel. Comparing these with IgG glycosylation-associated genes, we note protein-specific associations with genes encoding glycosylation enzymes (transferrin - MGAT5, ST3GAL4, B3GAT1; IgG - MGAT3, ST6GAL1) as well as shared associations (FUT6, FUT8). Colocalisation analyses of the latter suggest that different causal variants in the FUT genes regulate fucosylation of the two proteins. We propose that they affect the binding of different transcription factors in different tissues, with fucosylation of IgG being regulated by IKZF1 in B-cells and of transferrin by HNF1A in liver.
Data Citation
Landini, Arianna. (2021). GWAS summary statistics pertaining to the publication "Same role but different actors: genetic regulation of post-translational modification of two distinct proteins", [dataset]. University of Edinburgh. College of Medicine and Veterinary Medicine. Usher Institute. https://doi.org/10.7488/ds/3163
Date made available | 9 Nov 2021 |
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Publisher | Edinburgh DataShare |
Projects
- 3 Finished
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Determining the causal links and clinical significance of rare genetic variants
12/02/18 → 11/02/21
Project: Research
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