Browsing by Subject "Haplotyp"

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Genetische Diversität von Echinococcus granulosus sensu stricto
(2017) Ebi, Dennis; Mackenstedt, Ute
The dog tapeworm Echinococcus granulosus sensu stricto, distributed worldwide, is the most important agent of human Cystic Echinococcosis, a zoonotic disease which is considered as one of the priority ‘neglected zoonotic diseases’ by the World Health Organisation. The parasite is known from a large number of host species and is conventionally subdivided into several genotypes. The epidemiological consequences of the variation, however, are still unknown. In the last years several studies on the intraspecific variation of this parasite were published. Most of these studies were based on small numbers of isolates from geographically restricted regions, so that the relevance of that diversity concerning pathogenicity, host specificity, transmission cycles and biogeography is still little understood. To achieve a comprehensive estimate of its genetic diversity, 1085 isolates of E. granulosus s.s. from humans and animal hosts originating from widely different regions of the world were analyzed for the sequence polymorphism of a 1609 bp fragment of the mitochondrial cox1 gene. For analysis haplotype networks, diversity and neutrality indices of subpopulations of different geographic origin were compared. To improve the analytical efficiency of the sequence-data, a LabVIEW application was written. It could be shown that most diverse sub-population is found in the Middle Eastern region and that the genetic diversity is lower in the other analyzed regions, which confirms a previous tentative hypothesis on the origin of the domestic cycle of E. granulosus s.s. in that region. Records of identical haplotypes in different regions, inclusion of published data, calculation of parameters of population genetics and haplotype network analysis led to hypotheses explaining the distribution history of E. granulosus s.s.. This in line with fossil and molecular data on domestic sheep as the principal final host. A set of new and easily calculable genetic diversity indices were developed and their added value was explained. Additionally, a statistical resampling experiment was programmed which showed that at least 40 well distributed samples are necessary to provide a reliable estimate of the genetic diversity of the parasite in a region. Using an extension for that software, it was shown that the newly developed diversity indices do not strongly depend on the number of analyzed samples, and provide appropriate tools to assess the genetic diversity of parasite populations.
Mitochondrial haplotypes, gene expression and nuclear diversity in two strains of laying hens
(2021) Dreyling, Clara; Hasselmann, Martin
The domesticated chicken (Gallus gallus domesticus) is the most popular and widely spread domestic fowl worldwide, providing human with a stable source of protein in form of meat and eggs for centuries. The ongoing growth of human population increases the need for food and made poultry production one of the fasted growing sectors in the past decades. This need for food has resulted in several different strains which outperform their wild ancestors in terms of meat and egg production. During the past decades not only animal welfare gained importance but also ecological aspects such as global warming and the shortage of resources are becoming more important to society. One important resource for mankind which is becoming shortened is phosphorus (P), whose deposits in form of rock phosphate could be exhausted within the next 50-100 years. 90% of P supply is used in agriculture as fertilizer, whose demand will increase as well with growing population. This thesis focuses on the mitochondrial genetic background and mitochondrial related gene expression in the context of the productive life span and different diets in two contrasting high-yielding strains of laying hens, Lohmann Brown-Classic (LB) and Lohmann LSL-Classic (LSL). Mitochondria, which are commonly known as the powerhouse of the cell due to their role as the main producer of energy, play roles in other processes from cellular homeostasis to the process of ageing. The process of oxidative phosphorylation depends on the availability of P and thus, they become an important part of the complex framework of P utilization. In addition, mitochondrial haplotypes are known to affect physiological traits such as body weight in laying hens or important traits such as e.g. the metabolic capacity in dairy cows. It is known, that single mutations in the mitochondrial genome lead to a better adaptation to height in the Tibetan chicken or play a role in diseases from Alzheimer to obesity or lead to resistance to disease such as Marek’s disease in birds. This work provides insight into the whole mitochondrial genome of 180 laying hens of two commercial strains and links this information to physiological traits and genetic diversity. In addition, the first large-scaled gene expression analyses in the context of the productive life span and different P and Ca contents in laying hens is implemented. The analysis of mitochondrial haplotypes revealed a low level of genetic diversity with only three haplotypes within the LB strain while all LSL hens shared the same mitochondrial genome. Following from this observation, the nuclear genome was analysed based on genotyping data to reveal the whole genetic diversity of both strains. On the nuclear genetic level, both strains appeared as clearly distinct and equally diverse, while some individuals appear as strikingly close related. These individuals are mostly half-siblings sharing the same mitochondrial haplotype, underlining the need for more analyses about the genetic structure about the parental generation, especially the maternal background. Although there were no strong associations were found between the mitochondrial haplotypes and the analysed phenotypic traits (feed intake, body weight, P and Ca utilization), the differences between the strains indicate a potential involvement of the mitochondrial genetic background. The gene expression analyses revealed tissue type and point of the productive life span as the main influencers on gene expression while the influence of the strain is secondary. In addition, the expression of the gene GAPDH, which is frequently used as a reference gene for normalization in gene expression studies, was influenced by tissue and strain, leading to the decision to exclude it as a reference, that should be considered for in further studies. Further, no influence of the changes in dietary P and Ca on gene expression could be observed, suggesting that a reduction of 20% of both minerals is possible without the need to adapt gene expression. However, the results show, that a reduction of both minerals has less effect than a reduction of P alone, leading to an imbalance. In the context of the productive live span, mitochondrial and mitochondrial regulatory genes react contrary, illustrating the complexity of mitochondrial gene expression and regulation. In addition to the higher variance in the analysed phenotypic traits and mitochondrial genome in LB hens, they showed signs of increased oxidative stress compared to LSL hens. In the context of the productive life span, a potential higher demand for energy is suggested, since OXPHOS related gene expression is increasing. As a conclusion this work provides an insight into the mitochondrial genome and provides the first large scaled analysis of mitochondrial linked gene expression in two contrasting laying hen strains.