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Testis Specific Protein Y Encoded and Genome Wide Copy Number Variation and Changes in Individual Bulls

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Title: Testis Specific Protein Y Encoded and Genome Wide Copy Number Variation and Changes in Individual Bulls
Author: Oluwole, Olutobi A.
Department: Department of Biomedical Sciences
Program: Biomedical Sciences
Advisor: King, Allan
Abstract: Copy number variation has been reported in health and disease conditions. Several genes in the genome of both humans and animals exhibit copy number variation (CNV). Testis specific protein Y encoded (TSPY), a Y chromosomal gene has been shown to exhibit extensive copy number variation with its copy number varying among individuals and between different breeds of bulls. Copy number variation is not limited only to Y chromosomal genes, but has been reported in the X chromosome and autosomes as well. There is very little information in the literature as regards the age related changes in copy number. Therefore, the purpose of this thesis was to determine (a) whether TSPY copy number varied with age in bulls and during in vitro aging in cultured fibroblasts (b) TSPY copy number varies among different tissues of the same bull, and (c) to analyzed genome wide copy number variations in the bull genome during in vivo and in vitro aging, and in different tissues within individual bulls. We observed three different trends in TSPY copy number variation with age. Some bulls (26%) showed an increase, some (7%) a decrease and some (67%) did not have a change in TSPY copy number with age. Pattern of TSPY copy number change varied between pattern half siblings (bulls born from the same sire) and bulls within the same age group. Our in vitro aging model revealed that in the 3 different bovine fibroblast cell lines we examined, there was no significant change in TSPY copy number during in vitro aging. Variation in gene copy number with age is not limited to the Y chromosome. Genome wide analysis showed that copy number variation of autosomal genes occurs with age in bulls and during in vitro aging. In the in vivo and in vitro aging studies, we observed more deletions than gains. And there were more de novo CNVs with age during in vivo and in vitro aging. Somatic mosaicism occurs in bulls, with TSPY copy number varying in different tissues from the same bulls. Tissues like the brain, lung and muscle with less actively dividing cells have a lower relative TSPY copy number and less CNVs were detected in them. To date, this is the first study to monitor copy number in individual bulls over time and in tissues of the same bull. It has shown important age related changes in TSPY copy number on the Y chromosome and CNVs on autosomal chromosomes, and also demonstrated that somatic mosaicism is a common feature in bulls.
Date: 2016-05
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