The Role of Retrotransposons in Gene Family Expansions: Insights from the Mouse \u3ci\u3eAbp\u3c/i\u3e Gene Family

Background: Retrotransposons have been suggested to provide a substrate for non-allelic homologous recombination (NAHR) and thereby promote gene family expansion. Their precise role, however, is controversial. Here we ask whether retrotransposons contributed to the recent expansions of the Androgen-binding protein (Abp) gene families that occurred independently in the mouse and rat genomes. Results: Using dot plot analysis, we found that the most recent duplication in the Abp region of the mouse genome is flanked by L1Md_T elements. Analysis of the sequence of these elements revealed breakpoints that are the relicts of the recombination that caused the duplication, confirming that the duplication arose as a result of NAHR using L1 elements as substrates. L1 and ERVII retrotransposons are considerably denser in the Abp regions than in one Mb flanking regions, while other repeat types are depleted in the Abp regions compared to flanking regions. L1 retrotransposons preferentially accumulated in the Abp gene regions after lineage separation and roughly followed the pattern of Abp gene expansion. By contrast, the proportion of shared vs. lineage-specific ERVII repeats in the Abp region resembles the rest of the genome. Conclusions: We confirmed the role of L1 repeats in Abp gene duplication with the identification of recombinant L1Md_T elements at the edges of the most recent mouse Abp gene duplication. High densities of L1 and ERVII repeats were found in the Abp gene region with abrupt transitions at the region boundaries, suggesting that their higher densities are tightly associated with Abp gene duplication. We observed that the major accumulation of L1 elements occurred after the split of the mouse and rat lineages and that there is a striking overlap between the timing of L1 accumulation and expansion of the Abp gene family in the mouse genome. Establishing a link between the accumulation of L1 elements and the expansion of the Abp gene family and identification of an NAHR-related breakpoint in the most recent duplication are the main contributions of our study

Genomová analýza hybridní zóny myší domácích

Hybrid zones provide a valuable opportunity to study the process of speciation in real time. Untested combinations of genes from diverging populations come to the contact here causing a breakdown of genetic interactions and giving rise to reproductive isolation. Two house mouse subspecies (Mus musculus musculus/Mus musculus domesticus) form a narrow zone of secondary contact across Central Europe which is thought to be maintained by a balance between selection against unfit hybrids and dispersion of individuals. During my PhD study my collaborators and I used an array of ~ 1400 SNP markers to study patterns of introgression on a genome-wide scale across two/three house mouse hybrid zone transects. Our aim was to identify the genomic regions putatively harboring genes which are involved in the reproductive isolation between the two subspecies, characterize their distribution in mouse genome and assess genomic features associated with them. We were able to confirm on a genome-wide scale the importance of the X chromosome in the evolution of reproductive isolation. This chromosome exhibited introgression corresponding to strong negative epistasis and the patterns were consistent between transects pointing out to a common basis of reproductive isolation playing a role in two transects. Contrary to the...Hybridní zóny poskytují cennou příležitost ke studiu procesu speciace v reálném čase. Dochází zde k porušení genovych interakcí a následnému vzniku reprodukční izolace v důsledku kontaktu předem netestovanych kombinací genů pocházejících z divergujících populací. Dva druhy myší (Mus musculus musculus/Mus musculus domesticus) tvoří napříč střední Evropou úzkou zónu sekundárního kontaktu, která, jak se předpokládá, je udržována prostřednictvím rovnováhy mezi selekcí hybridů se sníženym fitness a disperzí jedinců. V průběhu mého PhD studia jsem spolu s mymi kolegy používal set asi 1400 SNP markerů ke studiu celogenomové introgrese napříč dvěma/třema transekty v hybridní zóně myši domácí. Naším cílem bylo identifikovat genomové oblasti obsahujících geny potenciálně způsobující reprodukční izolaci mezi dvěma poddruhy myši domácí, charakterizovat jejich rozložení v myším genomu a charakterizovat vlastnosti genomu typické pro tyto regiony. Náš vyzkum potvrdil na celogenomové škále vyznamnost chromozomu X při evoluci reprodukční izolace. Tento chromozom vykazoval introgresi odpovídající silné negativní epistázy a tato introgrese byla konzistentní mezi oběma studovanymi transekty, což poukazuje na společny geneticky základ reprodukční izolace mezi rozdílnymi oběma transekty. Na rozdíl od chromozomu X...Department of ZoologyKatedra zoologieFaculty of SciencePřírodovědecká fakult

The Role of Retrotransposons in Gene Family Expansions in the Human and Mouse Genomes

Retrotransposons comprise a large portion of mammalian genomes. They contribute to structural changes and more importantly to gene regulation. The expansion and diversification of gene families have been implicated as sources of evolutionary novelties. Given the roles retrotransposons play in genomes, their contribution to the evolution of gene families warrants further exploration. In this study, we found a significant association between two major retrotransposon classes, LINEs and LTRs, and lineage-specific gene family expansions in both the human and mouse genomes. The distribution and diversity differ between LINEs and LTRs, suggesting that each has a distinct involvement in gene family expansion. LTRs are associated with open chromatin sites surrounding the gene families, supporting their involvement in gene regulation, whereas LINEs may play a structural role promoting gene duplication. Our findings also suggest that gene family expansions, especially in the mouse genome, undergo two phases. The first phase is characterized by elevated deposition of LTRs and their utilization in reshaping gene regulatory networks. The second phase is characterized by rapid gene family expansion due to continuous accumulation of LINEs and it appears that, in some instances at least, this could become a runaway process. We provide an example in which this has happened and we present a simulation supporting the possibility of the runaway process. Altogether we provide evidence of the contribution of retrotransposons to the expansion and evolution of gene families. Our findings emphasize the putative importance of these elements in diversification and adaptation in the human and mouse lineages

Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes

Understanding the mechanisms driving lineage-specific evolution in both primates and rodents has been hindered by the lack of sister clades with a similar phylogenetic structure having high-quality genome assemblies. Here, we have created chromosome-level assemblies of the Mus caroli and Mus pahari genomes. Together with the Mus musculus and Rattus norvegicus genomes, this set of rodent genomes is similar in divergence times to the Hominidae (human-chimpanzee-gorilla-orangutan). By comparing the evolutionary dynamics between the Muridae and Hominidae, we identified punctate events of chromosome reshuffling that shaped the ancestral karyotype of Mus musculus and Mus caroli between 3 and 6 million yr ago, but that are absent in the Hominidae. Hominidae show between four- and sevenfold lower rates of nucleotide change and feature turnover in both neutral and functional sequences, suggesting an underlying coherence to the Muridae acceleration. Our system of matched, high-quality genome assemblies revealed how specific classes of repeats can play lineage-specific roles in related species. Recent LINE activity has remodeled protein-coding loci to a greater extent across the Muridae than the Hominidae, with functional consequences at the species level such as reproductive isolation. Furthermore, we charted a Muridae-specific retrotransposon expansion at unprecedented resolution, revealing how a single nucleotide mutation transformed a specific SINE element into an active CTCF binding site carrier specifically in Mus caroli, which resulted in thousands of novel, species-specific CTCF binding sites. Our results show that the comparison of matched phylogenetic sets of genomes will be an increasingly powerful strategy for understanding mammalian biology

Repeat associated mechanisms of genome evolution and function revealed by the Mus caroli and Mus pahari genomes.

Understanding the mechanisms driving lineage-specific evolution in both primates and rodents has been hindered by the lack of sister clades with a similar phylogenetic structure having high-quality genome assemblies. Here, we have created chromosome-level assemblies of the Mus caroli and Mus pahari genomes. Together with the Mus musculus and Rattus norvegicus genomes, this set of rodent genomes is similar in divergence times to the Hominidae (human-chimpanzee-gorilla-orangutan). By comparing the evolutionary dynamics between the Muridae and Hominidae, we identified punctate events of chromosome reshuffling that shaped the ancestral karyotype of Mus musculus and Mus caroli between 3 and 6 million yr ago, but that are absent in the Hominidae. Hominidae show between four- and sevenfold lower rates of nucleotide change and feature turnover in both neutral and functional sequences, suggesting an underlying coherence to the Muridae acceleration. Our system of matched, high-quality genome assemblies revealed how specific classes of repeats can play lineage-specific roles in related species. Recent LINE activity has remodeled protein-coding loci to a greater extent across the Muridae than the Hominidae, with functional consequences at the species level such as reproductive isolation. Furthermore, we charted a Muridae-specific retrotransposon expansion at unprecedented resolution, revealing how a single nucleotide mutation transformed a specific SINE element into an active CTCF binding site carrier specifically in Mus caroli, which resulted in thousands of novel, species-specific CTCF binding sites. Our results show that the comparison of matched phylogenetic sets of genomes will be an increasingly powerful strategy for understanding mammalian biology

Recently active L1 and B1 retrotransposons in the mouse genome

The work focuses on two recently active retrotransposon families in the house mouse genome. They are L1 and B1 retrotransposons. The aim of the work was to find polymorphic retrotransposon insertions caused by their recent activity. Two genomes of mouse inbred strains derived from the different house mouse subspecies were compared. The BACends from MSM/Ms derived from M. m. molossinus were compared with the reference genome of C57BL/6J derived mostly from M. m. domesticus. The set of output insertions was classified into several subfamilies of B1 a L1 families. The presence/absence of these insertions was tested using PCR in all three house mouse subspecies and also in two sister species (M. spretus and M. macedonicus). The particular subfamilies differed with regard to presence in latter species. Despite the supposed lack of activity of older L1 families (F2 and F3) they persist in house mouse population as an ancestral polymorphism. Unlike L1 subfamilies, B1 subfamilies appear to be active in house mouse genome for longer period of time. Also the difference between the whole families L1 and B1was observed. Thus, according to my data L1 family seems to be recently more active than B1 family

The Second solution

Department of Political ScienceKatedra politologieFaculty of Social SciencesFakulta sociálních vě

EU ETS - tool of the climate policy of EU and the comparison with the climate policy of the USA

JANOUŠEK, Václav. EU ETS jako nástroj klimatické politiky EU a jeho porovnání s klimatickou politikou v USA, Praha: Univerzita Karlova, Fakulta sociálních věd, Institut politologických studií, 2008. 93 s. Vedoucí diplomové práce PhDr. Irah Kučerová, PhD. Anotace Diplomová práce "EU ETS jako nástroj klimatické politiky EU a jeho porovnání s klimatickou politikou USA" si klade za cíl popsat současnou klimatickou politiku EU a to v kontextu vyjednání o globální dohodě týkající se redukce emisí skleníkových plynů a také o implementaci cílů EU v oblasti redukce emisí skleníkových plynů do komunitárního práva. Co se týče mezinárodního vyjednávání ohledně globálních redukcí skleníkových plynů, práce se zaměřuje na hlavní problémy sjednání takovéto dohody a hlavně na postoj důležitých aktérů, což je mimo Číny hlavně USA. Část věnovaná negociačnímu procesu uvnitř EU se potom poměrně detailně věnuje postoji jednotlivých států a interakci vrcholných orgánů EU v tomto procesu. Anotation Diploma thesis EU ETS - tool of the EU climate policy and the comparison with the climate policy of the USA aims to describe current policy of the EU regarding reduction of greenhouse gases both in the context of negotiation on global carbon reduction and with the implementation of the reduction commitments of the EU to the community..