Dissertation
Characterising the Patterns of Mutational Changes in Human and other Mammalian Populations
University of the Sunshine Coast, Queensland
Doctor of Philosophy, University of the Sunshine Coast, Queensland
2023
DOI:
https://doi.org/10.25907/00804
Abstract
A number of studies observed that the genetic diversity among the African population is very high compared to other parts of the world. The diversity of the populations decreases with an increase in the distance from Africa along the routes of the human migration 'Out of Africa'. The major reason for the reduction in the diversity of the populations that are further away from Africa is due to the serial bottlenecks experienced during the processes of migration. A recent study showed that the frequency of the types of nucleotide changes significantly varies among different human populations. The populations that are closer to Africa have more homozygous SNVs with AT→GC changes than those with GC→AT changes. The reason for this was attributed to the phenomenon called GC-biased gene conversion (gBGC). However, this difference between the two types of changes was less pronounced in the populations that are distantly located. It was suggested that this could be due to the difference in the effective sizes of the populations, as it is known that the population size of Africans and those located close to Africa are larger than those located further away from Africa. However, how this will influence the number of different types of minor alleles (e.g., G/C or A/T) in different populations is unclear. Furthermore, if gBGC is influenced by effective population size, it is important to examine its effect on the mainland and Island populations, as they are also known to have high and low (reduced) population sizes, respectively. The gBGC was known to be influenced by the recombination rates of the genome. However, how effective population size modulates this pattern in high and low recombining regions is not known. Finally, the influence of population size on gBGC was studied only using human populations. Therefore, it is imperative to investigate the universality of this pattern in various nonhuman mammalian populations. To address these questions, the present study assembled a dataset containing 420 genomes, including 90 humans, 244 cattle, 36 canines, and 50 mice.
Details
- Title
- Characterising the Patterns of Mutational Changes in Human and other Mammalian Populations
- Authors
- Jaspreet Kour - University of the Sunshine Coast, Queensland, School of Science, Technology and Engineering
- Contributors
- Sankar Subramanian (Supervisor) - University of the Sunshine Coast, Queensland, Centre for BioinnovationRenfu Shao (Supervisor) - University of the Sunshine Coast, Queensland, Centre for Bioinnovation
- Awarding institution
- University of the Sunshine Coast, Queensland
- Degree awarded
- Doctor of Philosophy
- Publisher
- University of the Sunshine Coast, Queensland
- DOI
- 10.25907/00804
- Organisation Unit
- University of the Sunshine Coast, Queensland; School of Science, Technology and Engineering; Centre for Bioinnovation
- Language
- English
- Record Identifier
- 99982892402621
- Output Type
- Dissertation
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