Overall, the FFPE sample provided the largest challenge in the analysis, but the fact that the remains were degraded made these difficult to analyse in larger fragments as well. The particular mtDNA sequence obtained in this case is one of the most common types seen among Caucasians. As a consequence, 10% of Europeans share identical DNA data with the bone samples and the reference sample according to the EMPOP database. Aged skeletal remains are often highly degraded, and different environmental factors can affect the bones negatively. In particular, bones that have been buried are subjected to microorganisms, fungi and humic acid that will accelerate degradation of the DNA. However, as approximately 400 bp fragments could be amplified from the ulna sample. The indication of degradation makes it less likely that the products are a result of modern contamination. Moreover, the cranial bone seems to be somewhat more degraded than the ulna bone, as only a few of the intermediate sized fragments could be amplified. In addition, when an organism dies, intracellular enzymes such as nucleases break the DNA molecule into short fragments. All these factors complicate a molecular analysis of aged skeletal remains. For these reasons, nuclear DNA analysis is most successful if short targets are used. In this study we were able to successfully use a subset of STR markers that were analysed by pyrosequencing technology. Transposable elements are a major source of genetic novelty and genome evolution. TEs are mobile sequences that may induce mutations through mobilization and recombination, often in a specific, individual manner. Furthermore, TEs may provide new genetic features and regulatory sequences contributing to the formation and remodeling of host gene networks. TEs can be classified into two distinct groups, DNA transposons and retrotransposons, which will move either through a DNA molecule or an RNA intermediate respectively. We focused this study on retrotransposons with families presenting long terminal repeats in their extremities or not. The factors that govern intra- and inter-species TE diversity are complex. They consist of a combination of the intrinsic properties of the TEs themselves, the properties of the host’s ecology, and those of the genome. TEs are maintained in the genome, but are usually INCB18424 silenced via molecular mechanisms that protect the genome against the deleterious effects of transposition and/or recombination, whilst preserving the possibility of creating variability, for example, in response to an environmental stress. Epigenetic regulation is one of the molecular mechanisms that controls TE expression and/or activity through semi-redundant pathways including histone post-translational modifications, DNA methylation, and the production of non-coding small RNAs. Histone post translational modifications have been associated with permissive and repressive chromatin states. Transposable elements, frequently found in heterochromatic domains, are often described as being associated with repressive histone marks. In SETDB1 knock out mice an enzyme responsible for the repressive H3K9me3 modification, induces over expression of specific LTR retrotransposon families. Furthermore, different classes of retrotransposons are upregulated in lysinespecific demethylase mouse mutants, suggesting an adaptation of the epigenetic regulatory mechanisms to the type of transposable element family.
The remains appear to be relatively well preserved perhaps because they were not buried in soil for a very long period
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