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  • Owusu, Rafaela (2022)
    High-throughput sequencing techniques make it possible to identify DNA variants at a reasonable cost, representing a first-tier diagnostic test for rare mendelian diseases. However, a substantial number of variants identified through the analysis of sequencing data are frequently classified as variants of uncertain significance (VUS). Accordingly, only 30–60% of individuals receive a conclusive molecular diagnosis depending on the clinical phenotype. Reanalysis of older sequencing data has been encouraged by recently developed and improved methodologies for analysis and more robust bioinformatic pipelines to enhance variant interpretation and raise the diagnostic/detection rate. This study focused on reanalyzing data from a targeted gene panel, MYOcap, a targeted gene panel for patients with neuromuscular disorders. The aims were to find elusive (i.e., previously undetected/misinterpreted) variants in patients still missing a molecular diagnosis and, by using novel bioinformatic tools, focusing on pathogenic and likely pathogenic variants (according to ACMG guidelines) in Varsome as well as on variants affecting the splicing as predicted by SpliceAI. With this setting, the detection rate of solved cases increased by 2,7% in the first cohort and 0,5% in the third. This study suggests that additional data, such as segregation data or transcriptomic and proteomic data are essential for reducing the number of VUS and increase the detection rate. Notably, this study represents an essential first step of a larger reanalysis project, aiming at providing a diagnosis to an increasing number of myopathy patients.
  • Kuuri-Riutta, Olivia (2021)
    Global warming is changing the ecohydrology and carbon fluxes of northern peatlands. If the soil moisture level remains high enough, peatland carbon sequestration may increase under longer and warming growing seasons, enhancing the cooling climate impact of peatlands. However, in case the evaporation overcomes precipitation, peatlands will dry. This leads to increased carbon dioxide emissions and the weakening of the cooling climate effect of peatlands. In addition, peatland methane fluxes are regulated by temperature and moisture conditions. What remains unknown, is which changes will be the most prominent and to which direction the climate impact of peatlands will develop in the future. The purpose of this thesis is to gain a better understanding of the peatland climate responses by investigating the recent vegetation development of a subarctic aapa mire. In August 2020, four surface peat cores were collected from the margin of Lompolojänkkä fen in Finnish Lapland. Recent changes in plant communities and carbon accumulation rates were investigated. Pb-210 dating method was applied to establish the chronology. A shift from a Cyperaceae-dominated community into a Sphagnum-dominated community in the beginning of the 1960s was detected. The shift indicates drying habitat conditions. Recent drying has been reported from several other northern peatlands. On the other hand, a similar expansion of Sphagna has been interpreted to be caused not only by hydrological changes but also directly by increasing temperatures, which cannot be ruled out in Lompolojänkkä either. Carbon accumulation in Lompolojänkkä seems to have increased following the change in the vegetation. However, the inferred increase might largely reflect an incomplete level of decomposing characteristic to surface peat. In contrast to the peatland margins, no drying signals or vegetation changes were observed in the central parts of Lompolojänkkä. This variation within a single peatland highlights the heterogeneous nature of peatland climate responses and carbon dynamics.
  • Roselius, Alisa (2023)
    Effective utilization of organic materials can advance the transition away from fossil dependency which is critical in order to restrict the global increase in temperature. Household biowaste can be reutilized through anaerobic digestion to produce organic nitrogen fertilizers for agriculture, which reduces the large, often fossil-based, energy inputs required in the production of synthetic nitrogen fertilizers. Properly recycled biowaste can additionally be used as a raw material for biogas, which can be used as an alternative for fossil-based energy sources. Regardless of these considerable opportunities, large amounts of household biowaste remains unrecycled. Though previous research has shown that recycling behavior is a result of several factors and cannot be depicted entirely accurately, different interventions have demonstrated their capability to improve recycling performance. These interventions have the ability to change either one or more of the three domains that have been theorized to be critical for any behavior to happen: capability, opportunity and motivation. This thesis strives to understand behavioral barriers for biowaste recycling in households and propose targeted behavioral change interventions in Helsinki metropolitan region where nearly 40% of the household mixed waste was unrecycled biowaste in 2021. This is done by analyzing the data derived from an external consumer behavior survey commissioned by Helsinki Region Environmental Services and conducted by Innolink. This research focuses on evaluating the suitability of nudges, enablement, incentives and communication/marketing through social media as means to enhance biowaste recycling performance in Helsinki metropolitan region based on the results from the data-analysis. Area specific research on behavior barriers is required to introduce suitable interventions as recycling behavior is complex and behavior barriers might vary between different groups. Results from this research show that household biowaste recycling performance can be enhanced by using nudges to improve social opportunity as well as automatic motivation, service provision to improve physical opportunity, fiscal measures to improve automatic-, and reflective motivation, and social media to improve reflective motivation. Successful delivery of these interventions can advance the fulfillment of the requirement in the HSY area that oblige biowaste separation in residential properties.
  • Rikberg, Jon (2018)
    The Red List Index (RLI) has widely been recognized as a useful tool in keeping track of extinction risk trends of large taxa. The RLI is an index based on IUCN’s threat categories. Functional diversity (FD) is a way of measuring biodiversity that describes species´ traits that are linked to species´ ecological roles. In this work I have mapped the spatial distribution of the RLI and functional diversity for Finnish vascular plants. I first produced species distribution models (SDMs) for all 1194 species of vascular plants in the Finnish Red List 2010 based on records from the Kastikka and Hertta databases and environmental data. A functional tree incorporating 971 of those species was calculated using seven functional traits. The traits that I used were life form, maximum plant height, seed mass, seedbank longevity, life span, specific leaf area (SLA), and leaf dry matter content (LDMC). The trait data was gained from the databases Leda and TRY. Based on the SDMs, the functional tree, and the Finnish Red List, taxonomic and functional diversity and RLI were mapped for the whole of Finland using 10 x 10 km cells. This was the first time FD and RLI were mapped for vascular plant species across Finland. Null models were used to compare observed values with the ones expected if species (and consequently traits) distributions were random accross the country. Taxonomic diversity (TD) was higher than expected in southern Finland and lowest in northern Finland, suggesting a strong latitudinal gradient. TD correlated with the same environmental variables as FD. Thus, it is likely that both TD and FD are dirven by the same environmental variables. FD was higher than expected in southern and western Finland and lower in the northern and eastern parts of the country. A strong environmental filtering in the north might cause low FD by limiting species´ distributions within many clades and favouring species with similar traits that allow them to survive in extreme conditions. In southern Finland, competitive exclusion might limit the co-existence of species with similar traits, thus increasing trait divergence. The RLI values were lowest in the Åland islands, along the southern coast, in a few sites in eastern Finland (e.g. Koli and Kuusamo areas), around Kemi and the Gulf of Bothnia and in Kilpisjärvi. Thus, these sites have high concentrations of threatened species. The low RLI sites correspond well with areas with either limestone or dolomite deposits, which explains why many of these areas are floristically unique and present high concentrations of threatened species. In addition, many of the sites with low RLI are geographical extreme areas in Finland, corresponding to the distribution limits of many species. The RLI was high in Ostrobothnia and in large parts of Lapland. In Ostrobothnia, centuries of forest management and a homogenous bedrock and topography have resulted in a vascular plant community based mostly on common species. It is possible, that regional extinctions have happened in Ostrobothnia already before red listing measures began, thus explaining the high RLI values today. On sites with more variety among habitats and bedrock, the RLI values were significantly lower than in the rest of Lapland, suggesting that the high RLI values for parts of Lapland are due to homogeneous plant communities in the northern boreal forests that host only few threatened species. The spatial distribution of the RLI and functional diversity for vascular plants in Finland were mapped for the first time. A strong latitudinal gradient was found for TD and FD. Low RLI values were found on calcareous soils and on geographic extremes in Finland. To track possible changes in the RLI it would be crucial to remap the RLI in 2019 when the next Finnish Red List is published. A comparision between this work and the remapping based on the 2019 assessment would track changes in the extinction risk across Finland. The current limitation with RLI is that it only considers taxonomic diversity. However, in future work it is possible to incorporate the functional tree used in this thesis into RLI to calculate a functionally weighted RLI.
  • Hietanen, Sakari (2022)
    Suuresta tarpeesta huolimatta, ei työvälineitä geeniekspression endogeeniseen säätelyyn ole nykypäivänä tarjolla lääketieteellisiin eikä tutkimuksellisiinkaan tarkoituksiin. Vuonna 2017 karakterisoitiin uuden CRISPR-Cas tyypin VI kompleksit. Nämä kompleksit hyödyntävät endonukleaasiaktiivisuudessaan uudenlaista Cas13 -efektoria, jonka kohteena toimii yksijuosteiset RNA-molekyylit. Cas13 tunnistaa kohteensa opas-RNA:n (gRNA) avulla. Tätä komplementaarisuutta hyödyntämällä on onnistuttu kohdistamaan Cas13:n aktiivisuus spesifisiin lähetti-RNA molekyyleihin nisäkässolukokeissa ilman kohde-RNA:n ulkopuolisia hajoamistuotteita. Tämän lisäksi nukleaasiinaktivoituja Cas13 efektoreita (dCas13) on käytetty esimerkiksi kohdennettuun nukleotidien deaminaatioon ja vaihtoehtoisen silmikoinnin indusointiin. Tämä todistaa dCas13 efektorien kyvyn toimia ohjelmoitavina apuproteiineina, joiden avulla voidaan ohjata kompleksiin liitetyn proteiinin toiminta spesifisille kohde-RNA:n alueille. Tässä tutkimuksessa, kaksi eukaryoottien translaatioon osallistuvaa proteiinia, ELAVL1 ja EIF4E, yhdistettiin dCas13b efektorin kanssa C- ja N-terminaalisesti, tarkoituksena lisätä kohteena olevan lähetti-RNA:n ekspressiota parantamalla tämän translatiivisuutta tai stabiliteettia. Koeasetelmassa vertailtiin näiden neljän fuusioproteiinin sekä aktiivisen Cas13b:n vaikutusta lusiferaasin ekspressioon käyttäen kuutta eri gRNA:ta aktivaation ohjaamisessa. Kokeet suoritettiin in vitro ympäristössä HEK293T-soluissa. Natiivi Cas13b vähensi merkittävästi lusiferaasisignaalia, kun taas samassa asetelmassa C-terminaalinen dCas13b-ELAVL1 fuusio lisäsi tätä tilastollisesti merkittävästi eli aikaansai kasvaneen lusiferaasiekspression. Vastaavaa vaikutusta ei ollut havaittavissa muissa fuusioproteiineissa. Tulokset todistavat onnistuneen Cas13b-välitteisen degradaation, sekä dCas13bELAVL1-välitteisen lisääntyneen lusiferaasitranskriptin translaation. Jatkotutkimusta vaaditaan fuusioproteiinin toiminnallisuuden ja varsinaisen kohteen ulkopuolisen aktiivisuuden määrityksessä. Siitä huolimatta tutkimuksessa esitelty fuusoproteiinikonstrukti voisi hyvin olla toimiva työkalu geeniekspression spesifin lisäyksen mahdollistamisessa endogeenisessa kontekstissa
  • Bäckroos, Sini (2021)
    Ornamentit ovat hyödyllisiä kumppaniehdokkaiden arvioimisessa ja kilpailussa toisia lisääntymishalukkaita yksilöitä vastaan. Naaraiden ornamenttien kehittymistä edistää koiraan korkeat lisääntymiskustannukset, kuten poikasten hoito ja pesän rakentaminen. Kehitystä rajoittavat naaraan ornamenteista koituvat kustannukset, jotka rajoittavat jälkeläisten määrää ja selviytymistä munasoluihin käytettävissä olevien resurssien kautta. Ihmisten toiminnasta johtuva lisääntyvä rehevöityminen vähentää näkyvyyttä ja siten haittaa ornamenttien käyttöä niin kumppaneiden houkuttelussa ja arvioinnissa kuin samaa sukupuolta olevien kilpailussa. Lisääntymiskauden aikana sekä kolmipiikkikoirailla että naarailla on havaittavissa ornamentteja. Itämeren rehevöitymisen on havaittu vaikuttavan kolmipiikkien lisääntymiseen usealla tavalla, kuten seksuaalivalinnan heikkenemisellä ja muutoksilla munien kuoriutumistodennäköisyyteen. Kolmipiikkinaaraiden ornamentin käyttötarkoitukset ja rehevöitymisen vaikutukset siihen ovat kuitenkin vielä tuntemattomia. Tutkin rehevöitymisen vaikutusta kolmipiikkinaaraan ornamenttiin avoimessa ja suojaisassa habitaatissa sekä ornamentin yhteyttä naaraan hedelmällisyyteen. Selvitin, vaikuttaako ornamentin voimakkuus naaraan kumppaninetsintäaktiivisuuteen, koska ornamentin on aiemmin havaittu kertovan lisääntymismotivaatiosta. Lisäksi testasin, suosivatko koiraat ornamentillisia naaraita ja vaikuttaako näkyvyys koiraan valintaan. Tulosteni mukaan naaraan ornamentti ei ilmaissut naaraan hedelmällisyyttä eikä habitaatin suojaisuus vaikuttanut ornamentin kehitykseen. Ornamentin ylläpito ja kumppaninetsintä ovat molemmat resursseja kuluttavia toimintoja. Saadakseen kumppanin heikompilaatuisen naaraan on mahdollisesti panostettava enemmän koiraan etsimiseen kuin ornamenttiin ja siksi havaitsin heikompiraitaisten naaraiden olevan aktiivisempia kumppaninetsinnässä. Naaraiden ornamentti voimistui naaraan ollessa kosiskelevan koiraan seurassa. Kolmipiikkikoiraat suosivatkin ornamentillisia naaraita ja kykenivät valitsemaan ornamentillisen naaraan näkyvyyden heikkenemisestä huolimatta. Toisaalta näkyvyyden heikkeneminen vähensi koiraan kosiskeluaktiivisuutta. Kolmipiikeillä molemmat sukupuolet käyttävät ornamentteja kumppaninvalinnassa, mutta naaraan ornamentin hyödyt koiraalle vaativat vielä lisää tutkimusta.
  • Heidbreder, Patrick (2022)
    Hybridization between species is widespread across the tree of life and plays a role in adaptation, speciation and evolution. A critical component of hybridization is the compatibility of the combining genomes. Mechanisms that create incompatibilities, such as transposable element (TE) activity, are thus central to understanding and predicting the evolutionary effects of hybridization. The genomic shock hypothesis posits a burst of TE activity in hybrid genomes due to the uncoupling of TEs and their silencers. While many studies on this topic have focused on laboratory hybrids, there is relatively little data for wild hybrid populations, especially in non-model species. Here, I take advantage of a recent (< 50 generations ago), natural, and replicated hybridization events between two wood ant species, Formica aquilonia and F. polyctena, to test for increased TE abundance in hybrids. Analyses of whole genomes (N total = 99) from both parental species and three hybrid populations revealed significantly more total TE copies in all hybrid populations compared to each parental species, and this partly remained after controlling for genome size, suggesting TE reactivation in the hybrids. LINE, DNA, and LTR elements, as well as multiple new and unclassified repeats, contributed most to the observed increase. However, I also found concurrent increases in satellite DNA copies in hybrids, suggesting heterochromatin expansion after hybridization. So while the observed TE-copy number increase I have detected is consistent with the genomic shock hypothesis, additional work is required to demonstrate and fully characterize TE reactivation in hybrids. Overall my work contributes to our understanding of the effects of hybridization on TE reactivation, satellite DNA abundance, and genome size evolution in natural populations.
  • Pursiainen, Annie (2020)
    Introduction: High anthropogenic pressure exercised on the Baltic Sea causes a decline in valuable reproduction areas of coastal fish, such as the northern pike (Esox lucius L.). Hence, the conservation and restoration of the reproduction areas of pike are increasingly of importance. The Kvarken Archipelago, located in the Gulf of Bothnia, presents valuable reproduction habitats for fish. The pre-flads, flads, glo-flads and glo-lakes provide warm and sheltered areas that are preferred by spring-spawning fish, such as pike. However, the precise environmental factors influencing pike reproduction in the region have not yet been identified. In this study, different environmental factors influencing pike reproduction in the Kvarken Archipelago were assessed. Furthermore, as technology advances, there is a need to evaluate the use of new techniques alongside the generally time consuming and expensive traditional research methods applied for surveying the pike reproductive areas. Henceforth, the present study assessed the suitability of the high-resolution aerial photography for identifying potential reproduction areas of northern pike. Methods: The data of pike fry density, the vegetation, the abiotic and biotic environmental factors, as well as the aerial images of the 45 sampling sites were collected by Natural Resources Institute Finland and Metsähallitus Parks and Wildlife Finland as part of the Kvarken Flada -project. Pike fry were sampled with a flat dipnet amongst vegetation along a 100 m sampling line during spring. Concurrently, the vegetation, the occurrence of sticklebacks (Gasterosteidae) and the abiotic factors affecting water quality, including salinity, pH, oxygen content and turbidity were determined. The temperature was recorded with temperature loggers from early spring until late summer. The temperature sum for June showed the greatest effect on pike fry densities and was thus used in the analyses. The archipelago zones, which are based on previously modelled temperature sums, were defined for the sampling sites in the geographic information system (QGIS). Additionally, factors describing the morphology, the vegetation and bottom substrate coverage of the sampling sites were utilized in the analyses. The presence of pike fry was analysed with binary logistic regression. The pike fry densities were studied using non-parametric analyses due to the high number of zero observations in the data. The aerial images were taken in late summer of 2017 and 2018, when the vegetation was fully developed. The vegetation types, i.e. reed, fallen reed, wetland grasses, submerged vegetation and filamentous algae, identified in the images were compared to the vegetation data gathered during field survey in QGIS. The performance of the aerial images was assessed by calculating the accuracy, sensitivity and specificity for the different vegetation classes, first for the whole dataset and then for the sampling points with pike fry observations. Results and conclusions: This study determines two key factors defining suitable reproduction areas of pike, the temperature sum for June and the morphology of the sampling site. The results indicate that pike prefer warm and sheltered areas with suitable vegetation, such as reed and wetland grasses. In particular, glo-lakes provide favorable conditions for pike and the temperature sum for June was significantly higher in the glo-lakes compared to the pre-flads. The temperatures of the glo-lakes were constant throughout the archipelago, providing suitable conditions for pike reproduction also in the outermost archipelago. In all of the glo-lakes pike fry were observed and generally the highest pike fry densities were found in glo-lakes. However, the year class strength of pike can be affected by the possibility of the juvenile pike to emigrate from the enclosed glo-lakes back to the sea. Salinity reflects the connectivity of the site to the surrounding sea and had a significant negative effect on pike fry density. Additionally, the presence of sticklebacks affected negatively the presence of pike fry, which might be traced back to the different use of the archipelago zones and site morphologies of these species. Increasing pH negatively influenced the pike fry density. However, pike fry were observed also in the highest pH conditions and therefore pH alone is not sufficient to explain the presence and density of pike fry. Due to the small sample size of the dataset, it can be assumed that not all of the factors influencing pike reproduction were identified and thus the use of a larger dataset is recommendable in future studies. This study provides new methodological information on reproduction area surveying of pike with high-resolution aerial photography. The different vegetation classes were successfully identified from the aerial images. The seasonal differences were noticeable in the results, as in the aerial photographs taken in late summer, the vegetation was fully developed compared to the field study in early spring. Nevertheless, aerial photography proved to be an effective method for identifying reproduction areas of pike based on the vegetation. Furthermore, reproduction areas in need of restoration could be assessed with aerial photography.
  • Madrid, Martha (2023)
    Food security is increasingly threatened in agrarian societies as environmental change has disrupted traditional food systems around the world, thus robbing the affected communities of their rights to food sovereignty. This thesis seeks to examine the role of traditional Indigenous (agri)cultural heritage maintenance in the present day, especially as impacted by climate change and land degradation. Using the case of Hek’o:we – or “waffle gardening” – in the Zuni Pueblo (known also as the Middle Place), the study aims to illuminate the benefits of youth-oriented education for the protection of food sovereignty, the continuance of ancestral knowledge, and the conservation of the land and natural resources. Existing literature was reviewed to evaluate the need for this research, as well as to illuminate the place of this study in the broad literature base of related topics in Western academia. The resulting literature review was compiled to serve also as a theoretical framework for narrowing down three key contexts in which this case study could be examined: 1. The history, development, and use of Hek’o:we, as understood currently in Western academia; 2. Indigenous food sovereignty; and 3. The role of youth education in the (re)production of agricultural knowledge. Much of the earlier research regarding Zuni (agri)cultural heritage maintenance and Hek’o:we agriculture has been conducted without considering the needs of the Zuni community. Thus, significant ethical considerations were central to the development of this study, including the goal of amplifying Zuni voices in the dissemination of the research results. Data collection was conducted over video chat; in a recorded group interview, organizers from the Zuni Youth Enrichment Project’s Food Sovereignty team shared stories and insight about the topics at hand. The results are presented primarily in the words of the participants. Three main topics emerged: Hek’o:we and community-wide resilience; intergenerational education that en-gages the whole family; and land-based considerations including climate change, water scarcity, and the overall notion of living with the land. Conclusions posit that traditional agricultural practices are promoting resilience, engagement with ancestral knowledge, conservation of the land and water, and many other ob-servable benefits. Climate change and land degradation, caused by intentional actions by the settler state, may pose threats to food sovereignty and the health of Zuni people, but the community is able to find strength in the practices developed by their ancestors.
  • Hyppölä, Ronja (2019)
    Peatlands are roughly divided into bogs, which are dry and ombotrophic, and fens, which are wet and minerotrophic. Bog vegetation typically consists of dwarf shrubs, lichens, and especially of peat forming white mosses Sphagna spp. White mosses, yet different taxa, also occur on fens and are accompanied by various sedges Carex spp. and Eriophorum spp. Human activities are changing the climate. These activities increase greenhouse gas concentrations in the atmosphere, which in turn causes global climate warming. It is not yet resolved how the warming is affecting the ecosystems and what are the response mechanisms. Peatlands cover a considerable area, i.e. 4 million square kilometres of the Northern hemisphere, including continuous, intermittent or sporadic permafrost, the latter especially vulnerable to thawing. Since their formation following the deglaciation ca. 11 700 years ago, the Northern hemisphere peatlands have acted as carbon sinks storing great amount of atmospheric carbon as accumulated peat. This is due to the slow decomposition rate under cold climate. Simultaneously peatlands release carbon back to the atmosphere via microbial activity, which is largely regulated by hydrological conditions and associated plant composition. Carbon dioxide (CO2) release in aerobic conditions happens mainly through respiration of the living organisms, while in wet anaerobic conditions methane (CH4) is released due to methanogenic processes. The rate of peat, i.e. carbon, accumulation and release has varied over time due to for instance prevailing climate conditions. Mire surface is a mosaic of hydrological and thus vegetational patterns. Different taxa thrive in different growing conditions and furthermore, respectively, can affect the carbon dynamics. While long-term autogenic succession changes surface vegetation and microtopography, also allogenic forcing, such as climate and warming alter habitat conditions and for instance lead to permafrost thawing. Currently, especially thawing of permafrost is a concern worth noticing. Thawing ice might cause water saturated conditions, which in turn may lead to increase in methane emissions. Past changes in prevailing vegetation can be studied through stratigraphical examinations of peat. The accumulated peat layers reflect drier and wetter conditions, and these can be identified by distinguishing the remaining plant macrofossils. The reconstructed changes in past vegetation can be dated with radiometric methods and then compared with paleoecological climate data or meteorological measurements to evaluate if the changes in vegetation and carbon accumulation correspond to changes in climate. In this study I investigate the relationship between past changes and peatland vegetation, carbon accumulation and climate. The focus time period covers the last centuries. My thesis consists of two case studies from northern Sweden permafrost peatland areas, Abisko and Tavvavuoma. The two main taxa, which dominated the plant assemblage were Sphagnum fuscum and Dicranum elongatum. In Tavvavuoma the plant composition varied more than composition in Abisko. Also, the oldest peat section was from Tavvavuoma, where bottom age of the peat section was ca. 8000 years old. The peat and carbon accumulation data indicate similar patterns for both study sites. No clear signs of the generally warmer Medieval Climate Anomaly or colder Little Ice Age were found in my data, but at both study sites the warming after Little Ice Age has shifted vegetation towards a drier assemblage and this has affected the carbon accumulation rates positively especially since the turn to 20th century. According to my data, it can be suggested that vegetation composition and carbon accumulation follow the climatological and thus hydrological conditions, thus my results are in accordance with earlier studies.
  • dos Reis Silva, Francisco (2023)
    Land-use change stands behind the current biodiversity crisis and all it entails in terms of ecosystem services. Guinea-Bissau, in West Africa, is originally characterized by a forest- savanna mosaic biome. However, while savannas have long been planted with rice, both rice paddies and forest remnants are now being converted into cashew monocultures – the only cash crop in the country – at unprecedented rates. The ecological impact of such rapid change is largely unknown. To help fill this gap, we examined how three diversity metrics – rarefied species richness, abundance and composition – varied across forest remnants, cashew orchards and rice paddies for amphibians and reptiles in northern Guinea-Bissau. To do so, visual encounter surveys were carried across 21 sampling sites, seven of each habitat type. A total of 703 amphibian and 266 reptile encounters was recorded from nine and 14 taxa, respectively. The results show class-specific responses to habitat type. Amphibians’ diversity in forest remnants and cashew orchards was similar across all metrics, but rice paddies had a higher abundance and unique composition compared to forest remnants. Reptiles’ abundance was highest in cashew orchards and this habitat had a distinct composition, when compared to forest remnants. Rice paddies sustained both lower reptile richness and abundance. Overall, our results are not in agreement with the expected detrimental impacts of cashew expansion, which might be due to the still high heterogeneity of habitat types within the landscape. Rice paddies proved particularly important for amphibians, and for open-habitat reptiles, boosting overall species diversity. In face of the eminent habitat conversion, maintaining heterogeneous landscapes, including the persistence of both forest remnants and rice paddies, will allow minimizing biodiversity loss in West Africa.
  • Suvanto, Maija Tellervo (2019)
    Sindbis virus belongs to the Alphavirus genus and it has spread around the globe. Sindbis virus is transmitted by mosquitoes and spread birds. Mosquitoes from Culex and Culiseta genera are able to spread Sindbis virus. In Finland game birds from Tetrao genus have been observed to act as host for Sindbis virus thus enabling viral amplification. In Finland Sindbis virus causes annual disease called Pogosta disease. Typically, Pogosta disease occurs from August to September. Symptoms of Pogosta disease include for example joint pain, arthritis, rash and fever. Pogosta disease is endemic in Finland and known endemic regions are e.g. Ilomantsi region. Even though Sindbis virus causes annual disease in Finland there is currently only six Sindbis virus strains isolated from Finland. These isolations were done in 2002 and in 2005. There is a need for new data. In this master thesis the aims were to describe how two new Finnish Sindbis virus strains were isolated and to compare them to each other and to other Sindbis virus strains isolated from Finland and around the globe. Mosquito samples were collected from Ilomantsi region in 2018 summer. Serum samples from serologically diagnosed patients with Sindbis virus infection were obtained from HUSLAB and included in this study. The mosquito and patient serum samples were cultivated on cells and later virus isolates were plaque purified. Conventional nested reverse transcriptase polymerase chain reactions (RT-PCR) for Alphavirus and Bunyavirus genera were used in order to screen mosquito and patient serum samples for viruses. Later a Sindbis virus specific real time reverse transcriptase PCR was used to test mosquito and patient serum samples. Cell cultures were also tested with immunofluorescence assays. Isolated Sindbis viruses were sent for next generation sequencing and based on that a phylogenetical tree was constructed. The phylogenetical tree represents the new Sindbis virus strains relation to Finnish and to other Sindbis virus strains around the globe. Mosquito samples were morphologically identified and subjected to genetic species identification analysis via COI sequences. These COI PCR products were sent for Sanger sequencing and compared to sequences in NCBI database in order to determine the mosquito species. In this master thesis two new Finnish Sindbis virus strains were isolated from mosquito and from human serum sample. This is the first time in Finland when Sindbis virus has been isolated from human serum sample. These two new Finnish Sindbis virus strains differ from each other. The strain isolated from the patient sample is more closely related to German strains than to Finnish Sindbis virus strains. The strain isolated from mosquitoes is closely related to pre-existing Finnish Sindbis virus strain Ilomantsi region-2005M which is isolated from mosquitoes. These finding suggest that currently there is two different Sindbis virus strains circulating in Finland. This master thesis provides valuable information of Finnish Sindbis virus strains which can be used in future studies e.g. when studying Sindbis virus pathogenesis, distribution, relation to other Sindbis virus strains or mapping Sindbis virus prevalence in Finland.
  • Mäkelä, Tiina-Kaisa (2020)
    Tiivistelmä – Referat – Abstract Celiac disease (CD) is a serious lifelong condition, in which the immune system attacks an individual’s own tissue when eating gluten. This leads to inflammation and damage to the small intestine. Celiac disease often goes undiagnosed because many of its symptoms are nonspecific. The prevalence of combined undiagnosed and diagnosed CD is estimated to affect 1 in 100 people throughout Europe and USA. CD is a polygenic disease, it is known that the human leukocyte antigen (HLA) system plays a crucial role. HLA-DQ2/DQ8 risk allele genotyping screening test from a whole blood sample (B -HLAKeli) is routinely used to estimate the genetic risk of a patient having CD. HLA genotyping test result is routinely used to rule out celiac disease rather than confirming it; if an individual does not have celiac disease related risk alleles, it is very unlikely that he or she has celiac disease. The Celiac disease diagnosis decision making process is based on the classic triple combination of serological antibody tests, the HLA-DQ2/DQ8 genotyping test and duodenal biopsies. The aim of this master’s thesis was to study evaluate how the two different risk classification praxis for HLA-DQx.5 allele used for celiac disease diagnostics in SYNLAB Finland and Estonia central laboratory and in SYNLAB Suomi central laboratory might influence the clinical process and final diagnosis. In SYNLAB Suomi central laboratory HLA-DQx.5 is classified and interpreted as a risk allele predisposing to celiac disease. In SYNLAB Finland and Estonia central laboratory this allele is classified as CD-non-risk-allele based on recommendations in international guideline. In addition, the aim was to get a general understanding of celiac disease prevalence and risk allele distributions among the study population. From the study population of 196 celiac disease suspect patients, 9% had a celiac disease positive laboratory result and the HLA risk genotype distribution among positive cases was well aligned with the expected values described in the literature. Study results indicated that there’s no additional clinical value if HLA-DQx.5 is classified as a celiac disease predisposing risk allele; the study data implies that it is very unlikely to find celiac disease positive cases from laboratory test perspective among HLA-DQx.5 carriers. Based on the study, approximately 7% of the celiac disease suspects carry the allele HLA-DQx.5 and therefore probably go through additional celiac disease related laboratory testing if this allele is interpreted as a risk allele. According to the study findings and general recommendations based on international guideline of celiac disease diagnosis, it seems that there is no clear clinical benefit if HLA-DQx.5 is classified as a CD risk allele.
  • Lehtonen, Anna (2017)
    Yersinia pseudotuberculosis voi aiheuttaa ihmiselle suolistoinfektion, yersinioosin. Se tarttuu kontaminoituneiden elintarvikkeiden välityksellä, ja Suomessa on todettu useita epidemioita viimeisen 20 vuoden aikana. Yersinia-suku kuuluu Enterobacteriaceae-heimoon, ja siihen kuuluu tällä hetkellä 18 lajia. Y. pseudotuberculosis-lajin lisäksi sukuun kuuluu kaksi ihmispatogeenia, Yersinia enterocolitica ja Yersinia pestis. Y. enterocolitica on myös elintarvikevälitteinen patogeeni, Y. pestis puolestaan tunnetaan ruton aiheuttajana. Y. pseudotuberculosis kasvaa hyvin jääkaappilämpötiloissa, jolloin nykyaikaiseen elintarvikehygieniaan oleellisena osana kuuluva kylmäsäilytys ei estä sen lisääntymistä elintarvikkeissa. Sen vuoksi onkin tärkeä tutkia tekijöitä, joilla on merkitystä Y. pseudotuberculosis-bakteerin kylmänsiedossa ja muissa stressiolosuhteissa. RNA-helikaasit ovat proteiineja, jotka avaavat kaksijuosteista RNA:ta. Niihin kuuluu useita proteiiniperheitä, mutta suurin niistä on DEAD-box-helikaasiperhe. DEAD-box-helikaaseja löytyy kaikista eliöryhmistä, ja ne osallistuvat kaikkiin RNA-metabolian vaiheisiin. Ne ovat ATP-riippuvaisia helikaaseja ja ne kykenevät avaamaan vain lyhyitä kaksijuosteisia alueita. Y. pseudotuberculosis IP32953- genomi sisältää viisi DEAD-box-helikaasia koodaavaa geeniä, csdA, dbpA, rhlB, rhlE ja srmB. RhlB osallistuu mRNA-molekyylien hajottamiseen osana RNA-degradosomia. Muut proteiinit osallistuvat pääasiassa ribosomin rakentumiseen. Escherichia coli -bakteerilla aiemmin tehdyn tutkimuksen perusteella tiedetään, että CsdA:n ja SrmB:n puuttuminen soluista saa aikaan kylmäherkän fenotyypin. CsdA:n roolia on tutkittu myös Y. pseudotuberculosis-lajilla, jossa toimimaton CsdA heikentää kasvua kylmässä. Tämän tutkielman tarkoituksena oli tutkia RNA-helikaasien vaikutusta Y. pseudotuberculosis IP32953-kannan kasvuun erilaisissa stressiolosuhteissa. RhlE-, DbpA- ja SrmB-deleetiomutanttikantoja kasvatettiin optimilämpötilan (28 °C) lisäksi kylmässä (3 °C), korkeassa suolapitoisuudessa sekä alhaisessa ja korkeassa pH:ssa. Kasvun aikana mitattiin bakteerien kasvua OD600nm-mittausten avulla, ja aineiston perusteella kannoille piirrettiin kasvukäyrät kaikissa olosuhteissa. Lisäksi aineistosta laskettiin käyrän alle jäävä pinta-ala, jonka perusteella tutkittiin kasvuerojen tilastollista merkitsevyyttä Studentin t-testillä. Kannoille määritettiin myös kasvunopeudet eri olosuhteissa. Deleetiomutanttien kasvussa huomattiin eroa alhaisessa lämpötilassa, jossa kaikki deleetiomutanttikannat tilastollisesti merkitsevästi kasvoivat villityypin kantaa huonommin. Lisäksi ΔsrmB -kanta kasvoi tilastollisesti merkitsevästi heikommin optimilämpötilassa ja korkeassa pH:ssa. Näyttääkin siis siltä, että DEAD-box-helikaasit ovat Y. pseudotuberculosis-bakteerilla suuremmassa roolissa kuin E. coli-bakteerilla, ja niitä tarvitaan erityisesti alhaisissa lämpötiloissa.
  • Raineva, Iona (2022)
    High-grade serous carcinoma (HGSC) is the most common and lethal subtype of ovarian cancer. To date, HGSC has typically been diagnosed late, and the survival rate is poor. Relapses are common despite standardised treatment options, and platinum-based chemotherapy resistance remains frequent. The tumours are generally heterogeneous, which makes HGSC complex. Molecular mechanisms of tumour initiation, progression and chemoresistance are insufficiently understood. Thus, efficacious treatment is challenging, and current options do not help some patients. In addition, a population of cancer cells having stem cell-like properties are suggested to play a role in tumour initiation, progression and chemoresistance. There is an urgent need to better understand prognostic biomarkers and treatment responses in HGSC. With diverse analytical methods, the treatment-unresponsive patients and their outcomes could be identified by predictive biomarkers. This thesis aimed to validate potential tissue biomarkers associated with cancer stem cells and poor prognosis in HGSC, evaluate the usability of the RNAscope technique and briefly review the hypotheses on cancer stem cells. Four putative biomarkers were studied: ALDH1A1, BMI1, MYC and SOX2. The RNAscope technique was used to detect and quantify the biomarker expression. Using diagnostic tumour tissue specimens from 95 patients allowed capturing the expression in situ. With comprehensive clinical information, we could test whether the biomarkers distinguished patients with similar background information but different outcomes. This thesis shows that BMI1 could be a potential prognostic biomarker in high-grade serous carcinoma. The results provide information about the expression patterns of previously identified potential HGSC stemness markers. Proteomics studies such as immunohistochemistry could provide complementary information. When the molecular mechanisms and prognostic markers are better understood, they will provide a promising opportunity to develop novel diagnostic methods for predicting the outcomes and deciding treatments for this complex disease.
  • Aung, July (2021)
    Epithelial cells line the surfaces of organs and tissues in a continuous and tightly packed manner, thereby functioning as a protective barrier between the tissue and the external environment known as the epithelium. During development, the epithelium undergoes a series of morphogenetic events which alters the shape and size of epithelial cells, enabling them to perform tissue specific functions in mature tissue. During morphogenesis, cells sense the mechanical forces and establish polarity through cell proliferation and rearrangement according to morphogenetic signalling pathways. This manoeuvre is achieved by the underlying actin cytoskeleton network which enables cells to resist the tension and stresses of morphogenesis via alteration of filament dynamics and network architecture. In vivo, numerous actin-regulatory proteins generate various polymerized forms of straight, branched, or contractile actin-myosin filaments, regulating dynamic actin filament turnover. The robust actin cytoskeleton provides the cell with protrusive and contractile forces that enable cells to migrate, maintain, and change its shape and form during morphogenetic events. Actin filament depolymerization is accomplished by ADF/cofilin (Drosophila homolog twinstar) binding to actin monomers (G-actin) and actin filaments. However, ADF/cofilin alone is not very efficient in promoting disassembly of actin monomers, especially in subcellular regions where ADF/cofilin is highly concentrated. AIP1 (Drosophila homolog flare) then enhances actin depolymerization via preferential binding to ADF/Cofilin rich regions in vitro. The aim of my thesis was to study the localization and roles of AIP1 and cofilin in follicular epithelium during Drosophila oogenesis. My results showed that Actin-Interacting-Protein-1 (AIP1) was expressed throughout oogenesis. AIP1 expression was increased in cell type-specific manner and AIP1 showed spatiotemporal localization in follicular epithelium during oogenesis. Silencing of AIP1 led to accumulation of ectopic F-actin aggregates, localization of which may reflect the cellular sites of dynamic actin reorganization in the follicular epithelium. My results also indicate that AIP1 may be indirectly responsible for maintaining epithelial integrity as its silencing resulted in formation of epithelial gaps throughout follicular epithelium. Also delays in border cell migration were observed. Considering the above, understanding how AIP1 functions in Drosophila morphogenetic events would therefore pave the way for a greater understanding of how this protein works in other organisms. The knowledge gained may also be used to extend the current understanding of the role of actin binding proteins in diseased states.
  • Jakobsson, Emma (2023)
    The lymphatic system is a network of vessels that permeate a substantial part of the whole body. It plays an essential role in fluid homeostasis by the drainage of interstitial fluid from the blood capillaries, after which the fluid, now called lymph, is transported through the vessel network and back to the blood circulation. The lymphatic system also plays an important role in the transportation of immune cells and in activation and maintenance of the immune system. Due to these crucial functions, there is a growing interest in exploiting the lymphatic system in the treatment of many immunological and inflammatory diseases. In many cases, an ideal treatment method would be to induce lymphatic growth (lymphangiogenesis) to boost immunological functions, facilitate resolution of inflammation and reduce the harm from lymphatic vascular abnormalities. However, there is a gap in knowledge in how to induce lymphangiogenesis in a controlled manner, with the major lymphangiogenic growth factor, vascular endothelial factor C (VEGF-C), tending to create disorganized lymphatic networks. The purpose of this thesis is to investigate factors influencing lymphangiogenesis, in an attempt to find ways to control it. Vaahtomeri research group has preliminary results showing a role of planar cell polarity (PCP) in control of dermal lymphatic vessel sprouting (the initial step for the formation of new lymphatic branches) and lymphatic network expansion. The focus of Vaahtomeri research group has been the core PCP protein Van Gogh-like protein 2 (VANGL2), which together with the other core PCP proteins is known to play an important role in the collective cell polarization and morphogenesis in many tissue types. The role of VANGL2 has previously been studied in the lymphatic system, and so far, VANGL2 has been implicated in both lymphatic valve morphogenesis and in flow-induced control of lymphatic endothelial cell (LEC) polarization. However, there still remains a gap in knowledge in what role VANGL2 plays in lymphangiogenesis and the lymphatic network as a whole. In this thesis, I investigated the role of VANGL2 in lymphangiogenesis, firstly by the use of an in vivo lymph node experiment, which offered a robust model to investigate the role of VANGL2 in the mature lymph node lymphatic network. In the experiment, I induced growth of the lymph node lymphatic network by means of an immunization reaction, and then I compared the lymphatic networks of Vangl2-deleted and control mice. Despite some minor differences between the Vangl2-deleted and control lymphatic networks, this experiment did not show a role for VANGL2 in the mature lymph node lymphatic network. Secondly, I investigated the potential mechanistic role of VANGL2 in control of dermal lymphatic vessel sprouting in growth conditions. This experiment showed a specific role for VANGL2 in sprouting of the lymphatic network, thus providing valuable research in understanding how lymphangiogenesis is regulated. Altogether, the results presented in this thesis work as a steppingstone for finding new treatments relating to the safe induction of lymphangiogenesis.
  • Gelman, Valeria (2014)
    The increased rates of population growth and urbanization worldwide raises the question of food security and self-reliance in cities. In view of this situation, in recent years there has been a re-emergence of urban agriculture in its traditional form and in new variations, such as on urban rooftops. A number of rooftop urban farms exist in the world; however, very few studies have been done to establish the quality of crops they produce, specifically concerning the concentrations of contaminants. The main purpose of this study was to investigate levels of contamination in edible plants grown on urban rooftops. I determined concentrations of polycyclic aromatic hydrocarbons (PAH) and trace metals in the biomass of three types of horticultural crops grown in the city of Helsinki, Finland. Lettuce, radish and peas were planted on five rooftops in various areas of Helsinki and control samples were acquired from local food stores and markets. Both groups of crops were analyzed for concentrations of 11 trace elements using the Elan 6000 ICP-MS and 16 PAHs using Shimadzu GC-MS-QP2010 Ultra system with the AOC-20i /AOC-20s autosampler. Additionally, lettuce and pea samples from the roofs were analyzed washed and unwashed to establish levels of particulate contamination on the surface of plants that can be mechanically removed through washing. Results obtained suggest that concentrations of PAHs and trace metals in rooftop vegetables in Helsinki are very low and the differences in their concentrations compared to control (store) samples are insignificant. This demonstrates that the consumption of vegetables produced in uncontaminated soil on urban roofs in Helsinki is safe. All samples showed concentrations well below the safety limits for heavy metals and PAHs established in the European Union (EC, 2006). Finally, there was a difference in concentration of PAHs and trace metals between washed and unwashed samples, however most of the results did not show statistical significance.
  • Hämäläinen, Lotta (2023)
    Norway rats are common commensal species across the world. Despite their long history with humans, the ecology of urban rats is still relatively unknown. Which is why in my thesis, I model the population dynamics of wild urban rats of Helsinki using trap data from a professional pest management company. To protect the privacy of the company’s customers, the data are on the scale of postal code areas. Using a generalized linear mixed model, I investigate several different factors that might affect rat populations. As the data come from a pest management company, trapping factors need to be considered. Other factors include environmental, such as the proportion of parks or the type of sewer present in the postal code area. But as urban rats live in cities, anthropogenic factors such as human density and income matter too. In the span on seven and half years, 8 415 rats were trapped all across Helsinki, in some places more than others. Of all the factors only the trapping factors along with household median income were significant. Median income was negatively associated with trapped rats, so more rats were trapped in areas with lower income. Future studies should try to uncover for what unknown factor income acts as a proxy for.
  • Tornikoski, Taru (2023)
    Social behaviour can be divided into neutral, positive, and negative, depending on the social context. Positive social behaviour involves affiliative prosocial interactions that encourage social and emotional cohesion. Rat (Rattus norvegicus) is a globally distributed common rodent species adapted to living near humans. Rats are intelligent and social animals with reciprocal prosocial behaviour. However, research on the social behaviour of rats is concentrated in laboratory settings and very little is known about the social behaviour of free-living rats. Rats arouse strong prejudice in humans and are considered aggressive. Despite a long history of coexistence, there are still strong conflicts between humans and rats. In this study, I used camera trap data to investigate the types of social behaviour in free-living rats and the time allocation of different behaviours. I investigated how the rats' behaviour is divided into socially neutral or positive and negative behaviour in relation to the total time spent on the behaviour. I also investigated the types of social behaviour that occur when rats approach each other and the frequencies of these different behavioural models. For the behavioural analyses, I used data-driven ethograms that I made and the behavioural analysis software BORIS. I found that the majority (over 96.2 %) of the social behaviour of the free-living rats in my study population was neutral or positive behaviour as measured by the duration of the behaviour categories. I also found that the most significant proportion of social behavioural models in rats was socially neutral or positive. Agonistic behavioural models were rare and occurred mostly between adults. In contrast, rats exhibited a moderate amount of prosocial behaviour, particularly in the form of food sharing and muzzle touching. My study brings new information to the limited previous research on the behaviour of free-living rats. The results suggest that most of the social behaviour in free-living rats would be neutral or positive behaviour, and agonistic behaviour in rats would be relatively rare. To the best of my knowledge, this work is the first study to analyse the social behaviour of free-living rats from camera trap data. Objective research data on the social behaviour of rats may mitigate prejudice against rats and attitudes towards rats may become more positive. This can mitigate conflict between humans and rats and promote peaceful coexistence. This work can be used as a pilot for future studies. The information this work provides can also be used, for example, to educate people about their attitudes towards rats.