Universität zu Köln

Otto, Moritz ORCID: 0000-0001-5407-373X (2023). MATHEMATICAL MODELS OF GENE COPY NUMBER EVOLUTION. PhD thesis, Universität zu Köln.

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Abstract

One of the major interests in population genetics is to analyze the evolutionary forces, such as genetic drift, natural selection and recombination, that shape genetic variation between and within populations. Genetic variability ranges from single nucleotide mutations to structural variants such as gene duplications. In some gene families, as for instance immune or receptor genes, the variation of gene copy number is considered to play a crucial role in adapting to changing environmental conditions. In this work, we developed a model that explores the interplay of unequal recombination and selection in the evolution of gene families. By analyzing data from the 1,000 Genomes Project, we were able to estimate selection and recombination parameters for selected candidate genes in different populations. Using analytical calculations and computer simulations, we tested whether changes in gene copy number distribution in different populations are effects of demography or a signal of adaptation. Furthermore, we introduced a new interpretation of the structured coalescent to examine genetic variation in gene families. This concept assumes gene copies to change their position within a gene array due to unequal recombination.

Item Type:	Thesis (PhD thesis)
Creators:	Creators Email ORCID ORCID Put Code Otto, Moritz moritz.otto@uni-koeln.de orcid.org/0000-0001-5407-373X UNSPECIFIED
URN:	urn:nbn:de:hbz:38-726054
Date:	2023
Language:	English
Faculty:	Faculty of Mathematics and Natural Sciences
Divisions:	Faculty of Mathematics and Natural Sciences > Department of Biology > Institute for Genetics
Subjects:	Mathematics Life sciences
Uncontrolled Keywords:	Keywords Language Genetics English Gene Duplication English Mathematical Models English Population Genetics English Unequal Recombination English Structured Coalescent English
Date of oral exam:	26 January 2024
Referee:	Name Academic Title Wiehe, Thomas Prof. Dr. Krug, Joachim Prof. Dr.
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/72605