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Global variation in maltase-glucoamylase copy number and starch digestion in humans
Secondary Supervisor(s): Dr Richard Badge, Dr Serena Tucci
University of Registration: University of Leicester
BBSRC Research Themes:
Project Outline
This project will investigate whether variation in MGAM gene copy number contributes to differences in starch digestion and whether its effects depend on variation in the amylase genes. Preliminary analysis of UK Biobank data has identified a common MGAM copy number variant with distinct copy number states. The project will determine how this variation is distributed across human populations, whether it is associated with amylase copy number and dietary history, and whether MGAM copy number has changed during human evolution alongside the expansion of amylase copy number associated with agriculture.
The project will use genomic datasets including the Human Pangenome, Human Genome Diversity Project, 1000 Genomes Project, UK Biobank and published ancient DNA datasets. Bioinformatic methods will be developed to measure MGAM copy number from DNA sequence data and validated using long-read genome assemblies. Population genetic analyses will test relationships between MGAM and amylase copy number and between genetic variation and historical patterns of starch-rich diets. Statistical genetic analyses will test for interactions between the two parts of the starch digestion pathway. Finally, ancient DNA will be analysed to investigate changes in MGAM copy number through time.
The project will provide training in human genetics, population genomics, bioinformatics, statistical genetics and ancient DNA analysis, and improve understanding of how dietary history has shaped the human genome.