472 resultados para yliopiston kolmas tehtävä


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Physics teachers are in a key position to form the attitudes and conceptions of future generations toward science and technology, as well as to educate future generations of scientists. Therefore, good teacher education is one of the key areas of physics departments education program. This dissertation is a contribution to the research-based development of high quality physics teacher education, designed to meet three central challenges of good teaching. The first challenge relates to the organization of physics content knowledge. The second challenge, connected to the first one, is to understand the role of experiments and models in (re)constructing the content knowledge of physics for purposes of teaching. The third challenge is to provide for pre-service physics teachers opportunities and resources for reflecting on or assessing their knowledge and experience about physics and physics education. This dissertation demonstrates how these challenges can be met when the content knowledge of physics, the relevant epistemological aspects of physics and the pedagogical knowledge of teaching and learning physics are combined. The theoretical part of this dissertation is concerned with designing two didactical reconstructions for purposes of physics teacher education: the didactical reconstruction of processes (DRoP) and the didactical reconstruction of structures (DRoS). This part starts with taking into account the required professional competencies of physics teachers, the pedagogical aspects of teaching and learning, and the benefits of the graphical ways of representing knowledge. Then it continues with the conceptual and philosophical analysis of physics, especially with the analysis of experiments and models role in constructing knowledge. This analysis is condensed in the form of the epistemological reconstruction of knowledge justification. Finally, these two parts are combined in the designing and production of the DRoP and DRoS. The DRoP captures the knowledge formation of physical concepts and laws in concise and simplified form while still retaining authenticity from the processes of how concepts have been formed. The DRoS is used for representing the structural knowledge of physics, the connections between physical concepts, quantities and laws, to varying extents. Both DRoP and DRoS are represented in graphical form by means of flow charts consisting of nodes and directed links connecting the nodes. The empirical part discusses two case studies that show how the three challenges are met through the use of DRoP and DRoS and how the outcomes of teaching solutions based on them are evaluated. The research approach is qualitative; it aims at the in-depth evaluation and understanding about the usefulness of the didactical reconstructions. The data, which were collected from the advanced course for prospective physics teachers during 20012006, consisted of DRoP and DRoS flow charts made by students and student interviews. The first case study discusses how student teachers used DRoP flow charts to understand the process of forming knowledge about the law of electromagnetic induction. The second case study discusses how student teachers learned to understand the development of physical quantities as related to the temperature concept by using DRoS flow charts. In both studies, the attention is focused on the use of DRoP and DRoS to organize knowledge and on the role of experiments and models in this organization process. The results show that students understanding about physics knowledge production improved and their knowledge became more organized and coherent. It is shown that the flow charts and the didactical reconstructions behind them had an important role in gaining these positive learning results. On the basis of the results reported here, the designed learning tools have been adopted as a standard part of the teaching solutions used in the physics teacher education courses in the Department of Physics, University of Helsinki.

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Organisaatioiden kehittäminen yhteiskunnallisen työnjaon muutoksessa –julkaisu esittelee kuvauksen yhteiskunnallisen työnjaon eli julkisen, yksityisen ja kolmannen sektorin välisen työnjaon muutosprosessissa syntyneiden hybridiorganisaatioiden (mm. tilaaja-tuottajamalli) ominaisuuksista. Toiseksi julkaisu esittelee kehittävän työntutkimuksen metodologian inspiroiman kehittämismenetelmän hybridilaboratorion, jota pilotoitiin Tampereen kaupungin päivähoidossa ja esiopetuksessa sekä Työvalmennussäätiö Tekevässä.. Hybridilaboratoriomenetelmän tavoitteena on kollektiivisesti paljastaa päätöksentekojärjestelmän rakenteita sekä luoda osallistumisen paikkoja perinteisiä hierarkiasuhteita ja organisaatiorajoja ylittävällä tavalla. Julkaisu on Yksityistämisen ja yhteisvastuun ylisektoraaliset vaihtoehdot –menetelmäkehitysprojektin loppuraportti ja sen kirjoittajat projektin tutkijoita Helsingin yliopiston Toiminnan teorian ja kehittävän työntutkimuksen yksiköstä. Projekti toteutettiin kokonaisuudessaan Tykes-ohjelman rahoituksella.

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The aim of this study was to investigate educators relational moral voices in urban schools and to listen to what they told about moral professionalism and moral practices in challenging urban schools. Their relational moral voices were investigated through the following three questions: 1. What are the educators moral voices in relation to themselves and other people? 2. What are the educators moral voices in relation to their work and society? 3. What kind of interaction process lies between the educators moral voices and the urban school context? The research data of this study were gathered in four urban schools in Jyväskylä and Helsinki. The research schools were chosen for this study according to the criteria of the international Socrates Comenius project called Leading Schools Successfully in Challenging Urban Context: Strategies for Improvement. This study formed part of this project, which investigated successful urban schools as challenging learning environments in nine European countries and explored the principals success in leadership in particular. The data, which included 37 narratively constructed interviews with four principals and key informants selected by the principals, were gathered in interviews conducted in 2006. In other words, the data comprised three interviews with each of four principals, and interviews with two teachers, two parents, and two pupils from each school. In addition, the school deacon from one school was also interviewed. Furthermore, part of the data from one of the research schools included a medium report of the school deacon s work. This study combined the case study method, the narrative approach and the critical incident technique as the methodological framework. In addition, all of these methods served as practical tools for both analyzing and reporting the data. The educators' narrations and the results of the study appear in the original articles (Hanhimäki & Tirri 2008; Hanhimäki 2008b; Hanhimäki & Tirri 2009; Hanhimäki 2008a). The educators moral voices in relation to themselves and other people emerged through the main themes of moral leadership, the development and evaluation process, moral sensitivity, gender, values, and student well-being. The educators moral voices in relation to their work and society emerged through the main themes of multiprofessional cooperation, families and parental involvement, and moral school culture. The idea of moral interaction connected moral professionalism and the methodological combination of this study, which together emphasized social interaction and the creation of understanding and meaning in this interaction. The main point of this study was to state that the educators moral voices emerged in the interaction between the educators themselves and the urban school context. In this interaction, the educators moral professionalism was constructed and shaped in relation to themselves, other people, their work and society. The loudest relational moral voices heard through the main themes were those of caring, cooperation, respect, commitment, and professionalism. When the results were compared to the codes of ethics which guided these educators moral professional work, the ethical principles and values of the codes were clearly visible in their moral practices. The loudest message from the educators narration could be summarized in the words caring, respect and cooperation: at its best, there is just a human being and a human being with caring, respect and cooperation between them. The results of this study emphasize the need for practical approaches such as case studies and the narrative approach in teacher education to encourage educators to become moral professionals capable of meeting the needs of people of varied backgrounds. In addition, opportunities for moral, religious and spiritual education should be noticed and utilized in the plural interaction of urban schools when nurturing pupils and creating a moral school culture. Furthermore, multiprofessional cooperation and parents as the school s primary cooperation partner are needed to carry out the shared duty of moral education in urban schools. Keywords: moral professionalism, educator, relational moral voice, interaction, urban school

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This study examines values education in Japanese schools at the beginning of the millennium. The topic was approached by asking the following three questions concerning the curricular background, the morality conveyed through textbooks and the characterization of moral education from a comparative viewpoint: 1) What role did moral education play in the curriculum revision which was initiated in 1998 and implemented in 2002? 2) What kinds of moral responsibilities and moral autonomy do the moral texts develop? 3) What does Japanese moral education look like in terms of the comparative framework? The research was based on curriculum research. Its primary empirical data consisted of the national curriculum guidelines for primary school, which were taken into use in 2002, and moral texts, Kokoro no nôto, published by the Ministry of Education in the same context. Since moral education was approached in the education reform context, the secondary research material involved some key documents of the revision process from the mid-1990s to 2003. The research material was collected during three fieldwork periods in Japan (in 2002, 2003 and 2005). The text-analysis was conducted as a theory-dependent qualitative content analysis. Japanese moral education was analyzed as a product of its own cultural tradition and societal answer to the current educational challenges. In order to understand better its character, secular moral education was reflected upon from a comparative viewpoint. The theory chosen for the comparative framework, the value realistic theory of education, represented the European rational education tradition as well as the Christian tradition of values education. Moral education, which was the most important school subject at the beginning of modern school, was eliminated from the curriculum for political reasons in a school reform after the Second World War, but has gradually regained a stronger position since then. It was reinforced particularly at the turn of millennium, when a curriculum revision attempted to respond to educational and learning problems by emphasizing qualitative and value aspects. Although the number of moral lessons and their status as a non-official-subject remained unchanged, the Ministry of Education made efforts to improve moral education by new curricular emphases, new teaching material and additional in-service training possibilities for teachers. The content of the moral texts was summarized in terms of moral responsibility in four moral areas (intrapersonal, interpersonal, natural-supranatural and societal) as follows: 1) continuous self-development, 2) caring for others, 3) awe of life and forces beyond human power, and 4) societal contribution. There was a social-societal and emotional emphasis in what was taught. Moral autonomy, which was studied from the perspectives of rational, affective and individuality development, stressed independence in action through self-discipline and responsibility more than rational self-direction. Japanese moral education can be characterized as the education of kokoro (heart) and the development of character, which arises from virtue ethics. It aims to overcome egoistic individualism by reciprocal and interdependent moral responsibility based on responsible interconnectedness.

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Tutkielmani käsittelee Elina Sanan Luovutetut-tietokirjaa ja sen aiheuttamaa laajaa julkista keskustelua. Graduni tarkoituksena on selvittää, miksi teos aiheutti poikkeuksellisen kiivaan kotimaisen ja osin kansainvälisenkin kohun. Keskustelu käynnistyi marraskuussa 2003. Teoksessa esitettiin, että Suomi luovutti jatkosodan aikana saksalaisille viranomaisille noin 3 000 sotavankia ja siviiliä. Näistä osa oli juutalaisia. Kirjan tietojen vuoksi Simon Wiesenthal -keskus lähetti tasavallan presidentti Haloselle selvityspyynnön. Tämän johdosta valtioneuvoston kanslia tilasi emeritusprofessori Heikki Ylikankaalta selvityksen jatkosodan ihmisluovutusten tutkimustilanteesta. Ylikankaan selvityksen pohjalta päätettiin käynnistää Kansallisarkiston hallinnoima tutkimusprojekti. Tutkielmani aineisto koostuu suomalaisista ja ulkomaisista sanoma- ja aikakauslehdissä julkaistuista uutisista, kolumneista, kirja-arvosteluista ja artikkeleista. Lisäksi olen käyttänyt Internetissä julkaistua aineistoa. Olen rajannut tutkimani keskustelun välille 1.11.2003–31.3.2004. Olen syventynyt Luovutetut-kohuun kolmesta eri näkökulmasta. Jatkosodan ihmisluovutukset ovat osa vaikeaa ja ikävää menneisyyttä. Nimitän niitä menneisyyden kipupisteeksi. Olen eritellyt jatkosodan varjopuolien käsittelystä esitettyjä näkökulmia. Keskityn etenkin puheenvuoroihin oman pesän likaamisesta ja Suomen osallisuudesta holokaustiin. Toiseksi, olen tarkastellut kohua akateemisen historiantutkimuksen ja maallikoiden kohtaamisena. Keskustelussa nousi vahvasti esille historiantutkimuksen tehtävä menneisyyden työstämisessä. Keskeisiä näkökulmia olivat, kuka saa tutkia historiaa, ja olivatko Elinan Sanan esittämät tiedot uusia. Kolmanneksi, olen tarkastellut jatkosodan ihmisluovutuksia muiden sodan varjopuolien rinnalla. Jatkosodan historiakuva on monivivahteinen, jossa nämä pitkään vaietut varjopuolet näyttäytyvät säröinä. Tutkielmani perusteella voi sanoa, että jatkosodan ihmisluovutukset olivat 2000-luvun alussa menneisyyden kipupiste. Keskustelijoiden enemmistölle tiedot luovutuksista ja suomalaisten tiiviistä yhteistyöstä saksalaisten kanssa olivat uusia ja hämmentäviä. Elina Sanan kirja osoitti, että jatkosodan historiakuva oli puutteellinen. Keskustelun varsinaisena katalyyttinä toimi Wiesenthal-keskuksen lähettämä kirje. Juutalaisten osuus luovutetuista nosti esille kysymyksen suomalaisten osuudesta holokaustiin, mikä lisäsi kiinnostusta ulkomailla. Historiantutkijat joutuivat kohussa puolustuskannalle. Heitä syytettiin vaikeiden asioiden tutkimisen laiminlyömisestä. Puolustukseksi he pyrkivät osoittamaan heikkouksia Sanan teoksesta ja korostamaan aiemman tutkimuksen merkitystä.

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Human Rights Education in a Finnish Upper Secondary School: Alien Yet Obvious This study focused on conceptions of human rights and human rights education (HRE) among students and teachers. I examined how human rights and HRE are understood by the students and teachers in one general upper secondary school located in southern Finland. I also examined teacher and student discourses about foreigners and immigrants. In the theoretical part of the study I dealt with the history of human rights, the different emphases in HRE and how HRE is handled within the curriculum of upper secondary schools in Finland. In the empirical part of the study I examined HRE in one particular general upper secondary school located in southern Finland where I carried out 28 student interviews and 18 teacher interviews. The study is based on qualitative theme interviews, which I analysed using qualitative content analysis. The aims of HRE as specified in UN documents on education seem not to have been achieved in the Finnish context. The students' knowledge of human rights seemed weak and very limited. Few teachers were familiar with the concept of human rights education. The concept of human rights was also unclear to many of the students. Freedom of speech was the most well-known and the most often-cited human right mentioned in the interviews. Students were not well acquainted with the different human rights instruments or the organisations dealing with human rights. In a way, human rights were both familiar and strange to the students. Materials related to HRE were used very little in the school or not at all. Yet human rights seemed to be very well implemented in the institution. The upper secondary school studied here does not seem to have substantial problems with equality among either the teachers or the students. In the interviews human rights problems were often considered someone else's problem in some other country. The teachers and students connected HRE especially with religious education, history and social studies. Human dignity is mostly dealt with in religious education, while matters concerning the history of human rights are mostly dealt with in history classes. Teachers appear to be human rights educators in the sense that they try to follow human rights principles in their daily work and respect the human dignity of everyone. The special role of a human rights educator was usually assigned to someone else — a teacher or an expert outside the school. HRE was not an intentional or conscious part of teachers´ educational work and was not seen either as belonging to the curriculum or as an obligation prescribed by international documents. There is a need to strengthen the presence of HRE in teacher education. HRE plays an important role in creating a culture of human rights. It is important to implement HRE so that the international aims for HRE will be fulfilled.

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Tutkimuksessa tarkastellaan yhteiskunnallista yrittäjyyttä suomalaisesta näkökulmasta ja pyritään kartoittamaan niitä tekijöitä, jotka voivat vaikuttaa sen institutionalisaatioon Suomessa. Yhteiskunnallinen yrittäjyys on viimeisen kahden vuosikymmenen aikana kansainvälisesti huomiota saanut pyrkimys yhdistää innovatiivisella tavalla taloudellisesti kestävä yritystoiminta ja sosiaalisen muutoksen aikaansaaminen. Erityisesti yhteiskunnalliset yritykset on nähty yhtenä mahdollisena vastauksena tulevaisuudessa yhä ajankohtaisempaan kysymykseen siitä, miten tärkeinä pidetyt hyvinvointipalvelut saadaan tuotettua huoltosuhteen heikentyessä ja julkisen talouden kiristyessä. Tutkimuksen tarkoituksena on selvittää avainhenkilöhaastatteluiden avulla, miten yhteiskunnallinen yrittäjyys ymmärretään Suomessa, ja mitä mahdollisuuksia tai haasteita nähdään sen vakiintumiselle. Tutkimus muodostuu kahdesta osuudesta. Ensimmäisen osan muodostaa yhteiskunnallisen yrittäjyyden käsitteen selventäminen heijastamalla haastatteluissa nousseita käsityksiä aiempaan pääosin kansainväliseen tutkimuskirjallisuuteen. Toinen osuus on teoriasidonnainen. Aineistosta pyritään kartoittamaan niitä tekijöitä, jotka haastateltavien mukaan vaikuttavat yhteiskunnallisen yrittäjyyden institutionalisaatioon Suomessa. Tutkimuksen teoreettisen viitekehyksen muodostaa (uusi) institutionalismi ja erityisesti teoria institutionalisaatiosta. Uuden alan institutionalisaatioon vaikuttavat Lawrencen ja Phillipsin mukaan sekä makrokulttuuriset instituutiot, eli yhteiskunnan erilaiset rakenteet, että institutionaalinen yrittäjyys, eli aktiivisten yksilöiden toiminta. Olemassa olevat rakenteet voivat olla uuden alan vakiintumista mahdollistavia tai rajoittavia. Tutkimuksen aineiston valinta perustuu teoreettiseen otokseen.Tutkimukseen on haastateltu avainhenkilöitä niistä sidosryhmistä, jotka ovat keskeisessä asemassa uuden alan tai ilmiön vakiintumiseen nähden. Haastattelutekniikkana on käytetty puolistrukturoitua teemahaastattelua. Haastatteluista saatua aineistoa on analysoitu laadullisen sisällönanalyysin avulla. Yhteiskunnallisesta yrittäjyydestä ei vallinnut haastateltujen kesken yhtenäistä kuvaa. Yhteiskunnallisen tehtävän ensisijaisuus nähtiin kuitenkin keskeisenä ilmiötä määrittävänä tekijänä. Haastatteluissa ilmenevät käsitykset ovat myös melko yhdenmukaisia Iso-Britannian mallin kanssa. Keskeisinä tuloksina yhteiskunnallisen yrittäjyyden institutionalisaatioon vaikuttavina tekijöinä nousivat mahdollistavina esiin vahva kolmas sektori, vakiintunut osuustoiminta, myönteinen poliittinen linjaus, vastuullisen kansalaisuuden ja individualismin vahvistuminen sekä tiivis kansainvälinen yhteistyö. Institutionalisaatiota rajoittavina institutionaalisina tekijöinä nousivat esiin vakiintuneet (erityisesti yrityspuolen) organisaatiot, hankintalaki ja sen sovellukset, perinteinen yksipuolinen näkemys yrittäjyydestä, hallintoalamaisuuskulttuuri sekä käsitteiden sekaantuminen ja leimautuminen haihatteluksi.

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The purpose of this Master s thesis is on one hand to find out how CLIL (Content and Language Integrated Learning) teachers and English teachers perceive English and its use in teaching, and on the other hand, what they consider important in subject teacher education in English that is being planned and piloted in STEP Project at the University of Helsinki Department of Teacher Education. One research question is also what kind of language requirements teachers think CLIL teachers should have. The research results are viewed in light of previous research and literature on CLIL education. Six teachers participate in this study. Two of them are English teachers in the comprehensive school, two are class teachers in bilingual elementary education, and two are subject teachers in bilingual education, one of whom teaches in a lower secondary school and the other in an upper secondary school. One English teacher and one bilingual class teacher have graduated from a pilot class teacher program in English that started at the University of Helsinki in the middle of the 1990 s. The bilingual subject teachers are not trained in English but they have learned English elsewhere, which is a particular focus of interest in this study because it is expected that a great number of CLIL teachers in Finland do not have actual studies in English philology. The research method is interview and this is a qualitative case study. The interviews are recorded and transcribed for the ease of analysis. The English teachers do not always use English in their lessons and they would not feel confident in teaching another subject completely in English. All of the CLIL teachers trust their English skills in teaching, but the bilingual class teachers also use Finnish during lessons either because some teaching material is in Finnish, or they feel that rules and instructions are understood better in mother tongue or students English skills are not strong enough. One of the bilingual subject teachers is the only one who consciously uses only English in teaching and in discussions with students. Although teachers good English skills are generally considered important, only the teachers who have graduated from the class teacher education in English consider it important that CLIL teachers would have studies in English philology. Regarding the subject teacher education program in English, the respondents hope that its teachers will have strong enough English skills and that it will deliver what it promises. Having student teachers of different subjects studying together is considered beneficial. The results of the study show that acquiring teaching material in English continues to be the teachers own responsibility and a huge burden for the teachers, and there has, in fact, not been much progress in the matter since the beginning of CLIL education. The bilingual subject teachers think, however, that using one s own material can give new inspiration to teaching and enable the use of various pedagogical methods. Although it is questionable if the language competence requirements set for CLIL teachers by the Finnish Ministry of Education are not adhered to, it becomes apparent in the study that studies in English philology do not necessarily guarantee strong enough language skills for CLIL teaching, but teachers own personality and self-confidence have significance. Keywords: CLIL, bilingual education, English, subject teacher training, subject teacher education in English, STEP

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Tutkimuksessa selvitetään Helsingin yliopiston valtiotieteellisestä tiedekunnasta valmistuneiden siirtymistä työelämään. Tarkoituksena on avata siirtymään liittyvää problematiikkaa ja tutkia työelämässä esiintyviä sosiaalisia verkostoja. Tutkimusta varten haastateltiin yhdeksää henkilöä, jotka olivat valmistuneet noin viisi vuotta aikaisemmin valtiotieteiden maistereiksi. Haastatteluissa kartoitettiin heidän kokemuksiaan työelämään siirtymisestä. Haastatteluiden lisäksi aineistona toimii haastateltavien työhistorioista muodostetut työjanat ja taustatiedot. Tutkimusmenetelmänä on käytetty kvalitatiivista sisällönanalyysiä. Laadullinen aineisto antaa uudenlaisen lähestymistavan työelämään siirtymisen tutkimiseen. Tutkimuksen lähtökohdat rakentuvat korkeakoulutettujen työelämään siirtymistä käsitelleiden tutkimusten, työelämän tutkimuksen ja verkostoanalyysin varaan. Tutkimustulokset muodostuvat kolmesta analyysiluvusta, joissa käsitellään opiskeluaikaa ja yliopistokoulutusta, valtiotieteilijöiden kohtaamaa muuttuvaa työelämää sekä verkostoitunutta työelämää. Tulosten mukaan osa haastateltavista oli opiskeluaikanaan huolestunut työllistymisestään, mutta toisen osan haastateltavista huomattiin suhtautuvan siirtymään ’töiden shoppailuna’. ’Töiden shoppailussa’ työmarkkinoilla toimitaan kuluttajina ja etsitään sopivaa työpaikkaa omien mieltymysten mukaan (Johnson 1978; Hämäläinen 2002). Toiseksi vastavalmistuneet valtiotieteiden maisterit haluavat tutkimuksen mukaan jatkuvasti kouluttautua uudelleen ja kehittyä työelämässä (ks. Julkunen 2008a; Julkunen 2008b; Sennett 2002). Haastattelupuheessa tasapainoilee pelko jämähtämisestä ja määräaikaisista työsuhteista. Aineistosta löytyi kolme erilaista työjanaa, professionaalinen, intressikohtainen ja generalistinen, joiden kautta on mahdollista ymmärtää valtiotieteilijöiden erilaisia urapolkuja. Kolmanneksi tutkimus kartoittaa, miten sosiaalisia verkostoja hyödynnetään siirtymässä koulutuksesta työelämään (ks. Jokisaari & Nurmi 2004). Kaikki haastateltavista olivat saaneet useamman kuin yhden työpaikan sosiaalisten verkostjensa kautta. Sosiaaliset verkostot toimivat työnhakukanavana, koska niiden sisällä liikkuu tietoa. Toisin sanoen voidaan puhua sosiaalisten verkostojen tuomista informaatiohyödyistä (Lin 2001), jotka ilmenevät heikkoina siteinä (Granovetter 1983; 1995) ja rakenteellisina aukkoina (Burt 2001). Tutkimuksessa esiintyvät työllistymiseen vaikuttaneet sosiaaliset suhteet perustuvat suurimmalta osin sosiaalisen pääoman (Bourdieu 2007 [1986]) kautta syntyneeseen luottamukseen (Coleman 1988; Mäkelä & Ruokonen 2005). Tutkimustulosten mukaan päämäärätietoiseen verkostoitumiseen suhtaudutaan varauksella, mutta ystäville tietoja avoimista työmahdollisuuksista välitetään mielellään. Erottelu syntyy kilpailusuhteiden ja ystävyyssuhteiden välille, joissa sosiaalista pääomaa käytetään eri tavoilla (ks. Johanson & Uusikylä 2005). Tutkimuksen mukaan valtiotieteiden maisterit työllistyvät sellaisten sosiaalisten verkostojen kautta, joissa liikkuu tietoa ja joihin liittyy luottamus.

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This study identified the molecular defects underlying three lethal fetal syndromes. Lethal Congenital Contracture Syndrome 1 (LCCS1, MIM 253310) and Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD, MIM 611890) are fetal motor neuron diseases. They affect the nerve cells that control voluntary muscle movement, and eventually result in severe atrophy of spinal cord motor neurons and fetal immobility. Both LCCS1 and LAAHD are caused by mutations in the GLE1 gene, which encodes for a multifunctional protein involved in posttranscriptional mRNA processing. LCCS2 and LCCS3, two syndromes that are clinically similar to LCCS1, are caused by defective proteins involved in the synthesis of inositol hexakisphosphate (IP6), an essential cofactor of GLE1. This suggests a common mechanism behind these fetal motor neuron diseases, and along with accumulating evidence from genetic studies of more late-onset motor neuron diseases such as Spinal muscular atrophy (SMA) and Amyotrophic lateral sclerosis (ALS), implicates mRNA processing as a common mechanism in motor neuron disease pathogenesis. We also studied gle1-/- zebrafish in order to investigate whether they would be a good model for studying the pathogenesis of LCCS1 and LAAHD. Mutant zebrafish exhibit cell death in their central nervous system at two days post fertilization, and the distribution of mRNA within the cells of mutant zebrafish differs from controls, encouraging further studies. The third lethal fetal syndrome is described in this study for the first time. Cocoon syndrome (MIM 613630) was discovered in a Finnish family with two affected individuals. Its hallmarks are the encasement of the limbs under the skin, and severe craniofacial abnormalities, including the lack of skull bones. We showed that Cocoon syndrome is caused by a mutation in the gene encoding the conserved helix-loop-helix ubiquitous kinase CHUK, also known as IκB kinase α (IKKα). The mutation results in the complete lack of CHUK protein expression. CHUK is a subunit of the IκB kinase enzyme that inhibits NF-κB transcription factors, but in addition, it has an essential, independent role in controlling keratinocyte differentiation, as well as informing morphogenetic events such as limb and skeletal patterning. CHUK also acts as a tumor suppressor, and is frequently inactivated in cancer. This study has brought significant new information about the molecular background of these three lethal fetal syndromes, as well as provided knowledge about the prerequisites of normal human development.

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Understanding the responses of species and ecosystems to human-induced global environmental change has become a high research priority. The main aim of this thesis was to investigate how certain environmental factors that relate to global change affect European aspen (Populus tremula), a keystone species in boreal forests, and hybrid aspen (P. tremula × P. tremuloides), cultivated in commercial plantations. The main points under consideration were the acclimatization potential of aspen through changes in leaf morphology, as well as effects on growth, leaf litter chemistry and decomposition. The thesis is based on two experiments, in which young aspen (< 1 year) were exposed either to an atmospheric pollutant [elevated ozone (O3)] or variable resource availability [water, nitrogen (N)]; and two field studies, in which mature trees (> 8 years) were growing in environments exposed to multiple environmental stress factors (roadside and urban environments). The field studies included litter decomposition experiments. The results show that young aspen, especially the native European aspen, was sensitive to O3 in terms of visible leaf injuries. Elevated O3 resulted in reduced biomass allocation to roots and accelerated leaf senescence, suggesting negative effects on growth in the long term. Water and N availability modified the frost hardening of young aspen: High N supply, especially when combined with drought, postponed the development of frost hardiness, which in turn may predispose trees to early autumn frosts. This effect was more pronounced in European aspen. The field studies showed that mature aspen acclimatized to roadside and urban environments by producing more xeromorphic leaves. Leaf morphology was also observed to vary in response to interannual climatic variation, which further indicates the ability of aspen for phenotypic plasticity. Intraspecific variation was found in several of the traits measured, although intraspecific differences in response to the abiotic factors examined were generally small throughout the studies. However, some differences between clones were found in sensitivity to O3 and the roadside environment. Aspen leaf litter decomposition was retarded in the roadside environment, but only initially. By contrast, decomposition was found to be faster in the urban than the rural environment throughout the study. The higher quality of urban litter (higher in N, lower in lignin and phenolics), as well as higher temperature, N deposition and humus pH at the urban site were factors likely to promote decay. The phenotypic plasticity combined with intraspecific variation found in the studies imply that aspen has potential for withstanding environmental changes, although some global change factors, such as rising O3 levels, may adversely affect its performance. The results also suggest that the multiple environmental changes taking place in urban areas which correspond closely with the main drivers of global change can modify ecosystem functioning by promoting litter decomposition, mediated partly by alterations in leaf litter quality.

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Tutkimus käsittelee kääpien sukulaisuussuhteita. Käävät ovat kantasienten (Basidiomycota) muotoryhmä, joiden itiöemien alapinta muodostuu yhteensulautuneista pilleistä. Muotoryhmänä kääpiä voi verrata vaikka puihin siinä mielessä, että käävät kuten puutkaan eivät ole samankaltaisuudestaan huolimatta kaikki sukua toisilleen. DNA:n käyttö sukulaisuussuhteiden selvittämisessä on aloittanut mullistuksen kääpien luokittelussa. Aiemmin käytetty, itiöemien ominaisuuksiin perustunut luokittelu on osoittautunut keinotekoiseksi sukulaisuussuhteiden kannalta. Tutkimuksessani syvennyttiin useamman kääpäsuvun polveutumishistoriaan hyödyntäen DNA:ta ja perinteisiä menetelmiä. Tutkimuksen keskeisimmät tulokset liittyvät sitkokääpien sukuun (Antrodiella). Tämä noin 70 lajia sisältävä suku osoittautui rikkonaiseksi - sitkokääpiin luetut lajit kuuluvat kahteen sienilahkoon ja oikesti vähintään 13 sukuun. Tutkimuksessa löytyi kaksi Suomelle uutta sitkokääpää, leppikääpä (A. ichnusana) ja nipukkakääpä (A. leucoxantha). Uudet suvut kuvattiin Suomessa esiintyville sirppikääville (Sidera) ja talikääville (Obba). Uusi kääpäsuku ja -laji kuvattiin myös Indonesiasta (Sebipora aquosa). Valtaosa sitkokääpiin luetuista lajeista kuuluu orakarakoiden heimoon (Steccherinaceae), joka rajattiin tässä tutkimuksessa uudelleen. Heimoon kuuluvat mm. karakäävät (Junghuhnia) ja orakasmaiset orakarakat (Steccherinum). Sen sisällä selvitettiin kääpien ja orakkaiden sukulaisuussuhteita. Perinteisesti käävät ja orakkaat on viety eri sukuihin riippumatta niiden mikroskooppisesta samankaltaisuudesta. Tulosten valossa orakarakoiden heimossa käävät ja orakkaat pysyvät pääosin erillisissä suvuissa, mutta tästä on myös poikkeuksia (Antrodiella, Metuloidea ja Steccherinum). Lähes kaikki DNA:n perusteella määriteltävissä olevat suvut ovat tunnistettavissa itiöemien ominaisuuksiensa perusteella. Tulokset antavat eväitä kääpien luokitteluun laajemminkin osoittamalla, mitkä ominaisuudet ovat luokittelun kannalta merkityksellisiä. Tarkentunut tieto lajimäärästä ja lajien sukulaisuussuhteista hyödyttää ekologista tutkimusta sekä arvioita lajien uhanalaisuudesta. Tutkimuksen aikana luotua DNA-kirjastoa käytetään lajien tunnistamiseen. Tuloksia voidaan hyödyntää myös etsittäessä bioteknologisia sovelluksia käävistä, sillä sovellusten kannalta kiinnostavat ominaisuudet seuraavat usein sienten sukupuuta.