Hevosen (Equus caballus) perinnöllisten sairauksien genetiikka

Tiivistelmä. Hevonen (Equus caballus) on elänyt pitkään ihmisen rinnalla toimien käyttöeläimenä kuljetuksessa ja ravintona. Nykyisin käyttö on painottunut pitkälti monipuoliseen harraste-eläimeen, mutta alkuperäiset käyttötarkoitukset ovat edelleen suuressa käytössä eri puolilla maailmaa. Hevosen genomin sekvensointi vuonna 2007 avasi uusia mahdollisuuksia hevosen erilaisten ominaisuuksien ja sairauksien ymmärtämiseen. Hevosella havaittiin runsaasti yhtäläisyyksiä ihmisen genomin kanssa, jopa runsaammin kuin koirilla. Genomista löydettiin myös evolutiivisesti uusi sentromeeri, josta puuttui sentromeereille tyypillinen satelliitti-DNA tehden siitä mielenkiintoisen tutkimuskohteen. Perinnölliset sairaudet ovat DNA-mutaatioiden aiheuttamia sairauksia, jotka siirtyvät yksilön jälkeläisille gameeteissa. Ne voivat olla periytymistavaltaan resessiivisiä tai dominoivia. Resessiiviset tarvitsevat ilmentyäkseen mutaation sisältävän alleelin molemmilta yksilön vanhemmilta, kun taas dominoivilla jo yksi kopio riittää. Hevosten perinnöllisistä sairauksista monet esiintyvät myös ihmisillä. Useiden tässäkin tutkielmassa käsiteltyjen sairauksien taustalla olevat geneettiset mekanismit ovat tutkittuja. Tämä herättääkin kysymyksen, voidaanko hevosen sairauksien geneettistä tietämystä hyödyntää ihmisen sairauksien ja hoitojen tutkimuksessa? Hevosen domestikaatiosta tiedetään sen sisältäneen suuren lauman tammoja ja vain vähän oreja, mikä näkyy X-kromosomin haplotyyppien moninaisuutena verrattuna Y-kromosomiin. Nykypäivän jalostus noudattaa edelleen samaa kaavaa, jossa hyväksi koettuja oreja käytetään runsaasti suurelle määrälle tammoja. Lisääntymistieteen kehittymisen myötä sukusoluja voidaan lähettää ympäri maailmaa sekä pakastaen käyttää vielä vuosia orin kuoleman jälkeen. Tämä voi toimia rodun monipuolisuutta vastaan taikka sen eduksi riippuen siitä, miten sitä hyödynnetään. Samojen orilinjojen käyttö vuodesta toiseen vähentää geneettistä monimuotoisuutta, nostaa sukusiitosastetta ja edistää perinnöllisten sairauksien yleistymistä. Sairauksien yleistymisen ehkäisemiseksi tehtävä geenitestaus ennen jalostamista on sekä rahallisesti että eläinten hyvinvoinnin kannalta kannattavaa. Nykyteknologia on tuomassa mahdollisuutta muokata alkion perimää siten, että sairauksia aiheuttavia alleeleja voitaisiin korjata takaisin normaaleiksi. Tämä on kuitenkin vielä kehitysasteella, eikä sitä ole onnistuttu toteuttamaan hevosella eläviksi yksilöiksi saakka. Kaiken kaikkiaan hevosen genomista löytyy useita tutkimisen arvoisia kohteita. Erityisesti genomin tuntemus sairauksien osalta ja samankaltaisuus ihmisen genomin kanssa ovat asioita, joiden laajempi ja syvällisempi tuntemus on potentiaalisesti erittäin merkityksellinen ihmiselle

Infant fecal microbiota composition and attention to emotional faces

The gut microbiota has been suggested to influence neurodevelopment in rodents. Preliminary human studies have associated fecal microbiota composition with features of emotional and cognitive development as well as differences in thalamus-amygdala connectivity. Currently, microbiota-gut-brain axis studies cover heterogenous set of infant and child brain developmental phenotypes, while microbiota associations with more fine-grained aspects of brain development remain largely unknown. Here (N = 122, 53% boys), we investigated the associations between infant fecal microbiota composition and infant attention to emotional faces, as bias for faces is strong in infancy and deviations in early processing of emotional facial expressions may influence the trajectories of social-emotional development. The fecal microbiota composition was assessed at 2.5 months of age and analyzed with 16S rRNA gene sequencing. Attention to emotional faces was assessed with an age-appropriate face-distractor paradigm, using neutral, happy, fearful, and scrambled faces and salient distractors, at 8 months of age. We observed an association between a lower abundance of Bifidobacterium and a higher abundance of Clostridium with an increased “fear bias,” that is, attention toward fearful versus happy/neutral faces. This data suggests an association between early microbiota and later fear bias, a well-established infant phenotype of emotionally directed attention. However, the clinical significance or causality of our findings remains to be assessed

The effect of syllable-level hyphenation on reading comprehension: Evidence from eye movements

Syllabification by hyphens (e.g., hy-phen-a-tion) is a standard procedure in early Finnish reading instruction. However, recent findings indicate that hyphenation slows down children’s reading already during the first grade (Häikiö, Hyönä, & Bertram, 2015, 2016). In the present study, it was examined whether this slowdown is indicative of deeper processing and/or more strategic reading. To this end, 2nd grade children (N = 36) read short expository and narrative stories while their eye movements were registered. The presence of syllable boundary cue (SBC) was manipulated; for half of the stories, each word was hyphenated at syllable boundaries whereas the other half included no hyphenation. After each story, story comprehension (SC) was measured by three types of oral questions, namely free recall, cued recall, and true/false questions. With regard to reading behavior, SBC interacted with independently measured reading comprehension scores for both forward and regressive fixation times during first pass sentence reading. Hyphenation slowed down reading of good comprehenders to a larger extent than weaker comprehenders in comparison to nonhyphenated condition, especially for regressive fixation times. With respect to SC, cued recall scores were lower in the hyphenated than in the nonhyphenated condition. There was no effect of SBC in free recall or true/false questions. Hyphenation seems to promote phonological encoding even when readers might want to access words via orthographic codes, which are obscured by hyphenation, especially at the whole-word level. This more piecemeal reading style then makes it harder to integrate the pieces into a bigger whole, affecting not only reading speed but also reading comprehension. (PsycINFO Database Record (c) 2018 APA, all rights reserved)</p

Success factors for data–driven service delivery networks

Abstract Data is becoming a more and more important resource for future innovations. Companies are currently considering how to leverage personal data in preventive healthcare and in other sectors. However, there are many challenges hindering the development of data-driven businesses in extant business networks. The purpose of this paper is to explore the success factors of data-driven service delivery networks in the context of preventive healthcare. The results are examples of the benefits and challenges of data availability and usage, based on a qualitative case study, in which a network of actors is integrating resources to solve the needs of their end customers. The results underline the success factors for service delivery networks, creating a baseline for human-centric, personalized and preventive healthcare solutions. The study enriches the theoretical perspective of data, services and service delivery networks by continuing discussion on how big data resources become cooperative assets not only in a firm but also on the network level. This study has multiple implications for practitioners trying to navigate the turbulent waters of the changing business environment and evolving service delivery network of preventive healthcare. Especially small and medium size of firms could use the identified success factors when planning new data-driven services in their networks. Our analysis brings new perspective between a firm and the actors in its network, particularly in the preventive healthcare sector wherein data needs to be shared between actors via consent of the individuals

Children’s processing of written irony:an eye-tracking study

Abstract Ironic language is challenging for many people to understand, and particularly for children. Comprehending irony is considered a major milestone in children’s development, as it requires inferring the intentions of the person who is being ironic. However, the theories of irony comprehension generally do not address developmental changes, and there are limited data on children’s processing of verbal irony. In the present pre-registered study, we examined, for the first time, how children process and comprehend written irony in comparison to adults. Seventy participants took part in the study (35 10-year-old children and 35 adults). In the experiment, participants read ironic and literal sentences embedded in story contexts while their eye movements were recorded. They also responded to a text memory question and an inference question after each story, and children’s levels of reading skills were measured. Results showed that for both children and adults comprehending written irony was more difficult than for literal texts (the “irony effect”) and was more challenging for children than for adults. Moreover, although children showed longer overall reading times than adults, processing of ironic stories was largely similar between children and adults. One group difference was that for children, more accurate irony comprehension was qualified by faster reading times whereas for adults more accurate irony comprehension involved slower reading times. Interestingly, both age groups were able to adapt to task context and improve their irony processing across trials. These results provide new insights about the costs of irony and development of the ability to overcome them

Performance and secondary chemistry of two hybrid aspen (Populus tremula L. x Populus tremuloides Michx.) clones in long-term elevated ozone exposure

The effects of moderately elevated ozone (ca. 35 ppb) on the growth and secondary chemistry of the leaves of two soil-grown Finnish hybrid aspen (Populus tremula L. x Populus tremuloides Michx.) clones with different ozone sensitivities were studied at an open-air exposure field in Kuopio, Finland. Stomatal conductance, photosynthetic rate, and chlorophyll fluorescence were measured during the third growing season. Foliar phenolic concentrations, ergosterol concentration of fine roots, and final dry mass of the trees were determined at the end of the third growing season. Elevated ozone increased the ectomycorrhizal status of the fine roots but had no effect on gas exchange or on the final biomass of either of the clones, indicating equal sensitivity to ozone and no effect of elevated ozone on the intraspecific competitive ability of the clones after three growing seasons. However, in agreement with the data from potted plants of the same clones after two growing seasons, significant differences between the clones were found in all parameters measured. A negative correlation between growth and high concentrations of foliar phenolics indicated that allocation to secondary chemistry also was costly in terms of growth under high resource availability. © Springer Science + Business Media, LLC 2009

Corporate Responsibility in Scandinavian Supply Chains

cooperative advantage, corporate responsibility, CSR, partnerships, Scandinavia, supply chain, sustainability,