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- Beecham, Ashley H, et al.
(författare)
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
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Tidskriftsartikel (refereegranskat)abstract
- Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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| 5. |
- Eme, Laura, et al.
(författare)
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Inference and reconstruction of the heimdallarchaeial ancestry of eukaryotes
- 2023
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Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 618:7967, s. 992-
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Tidskriftsartikel (refereegranskat)abstract
- In the ongoing debates about eukaryogenesis-the series of evolutionary events leading to the emergence of the eukaryotic cell from prokaryotic ancestors-members of the Asgard archaea play a key part as the closest archaeal relatives of eukaryotes(1). However, the nature and phylogenetic identity of the last common ancestor of Asgard archaea and eukaryotes remain unresolved(2-4). Here we analyse distinct phylogenetic marker datasets of an expanded genomic sampling of Asgard archaea and evaluate competing evolutionary scenarios using state-of-the-art phylogenomic approaches. We find that eukaryotes are placed, with high confidence, as a well-nested clade within Asgard archaea and as a sister lineage to Hodarchaeales, a newly proposed order within Heimdallarchaeia. Using sophisticated gene tree and species tree reconciliation approaches, we show that analogous to the evolution of eukaryotic genomes, genome evolution in Asgard archaea involved significantly more gene duplication and fewer gene loss events compared with other archaea. Finally, we infer that the last common ancestor of Asgard archaea was probably a thermophilic chemolithotroph and that the lineage from which eukaryotes evolved adapted to mesophilic conditions and acquired the genetic potential to support a heterotrophic lifestyle. Our work provides key insights into the prokaryote-to-eukaryote transition and a platform for better understanding the emergence of cellular complexity in eukaryotic cells.
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- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 8. |
- Narrowe, Adrienne B., et al.
(författare)
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Complex Evolutionary History of Translation Elongation Factor 2 and Diphthamide Biosynthesis in Archaea and Parabasalids
- 2018
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Ingår i: Genome Biology and Evolution. - : Oxford University Press (OUP). - 1759-6653. ; 10:9, s. 2380-2393
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Tidskriftsartikel (refereegranskat)abstract
- Diphthamide is a modified histidine residue which is uniquely present in archaeal and eukaryotic elongation factor 2 (EF-2), an essential GTPase responsible for catalyzing the coordinated translocation of tRNA and mRNA through the ribosome. In part due to the role of diphthamide in maintaining translational fidelity, it was previously assumed that diphthamide biosynthesis genes (dph) are conserved across all eukaryotes and archaea. Here, comparative analysis of new and existing genomes reveals that some archaea (i.e., members of the Asgard superphylum, Geoarchaea, and Korarchaeota) and eukaryotes (i.e., parabasalids) lack dph. In addition, while EF-2 was thought to exist as a single copy in archaea, many of these dph-lacking archaeal genomes encode a second EF-2 paralog missing key residues required for diphthamide modification and for normal translocase function, perhaps suggesting functional divergence linked to loss of diphthamide biosynthesis. Interestingly, some Heimdallarchaeota previously suggested to be most closely related to the eukaryotic ancestor maintain dph genes and a single gene encoding canonical EF-2. Our findings reveal that the ability to produce diphthamide, once thought to be a universal feature in archaea and eukaryotes, has been lost multiple times during evolution, and suggest that anticipated compensatory mechanisms evolved independently.
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- Nyberg, Eva, 1958, et al.
(författare)
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Känslor och estetik i förskolans naturvetenskap.
- 2020
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Ingår i: Presentation på den digitala konferensen: FND 2020 "Flerspråkighet och multimodalitet i naturvetenskapernas och teknikens didaktik", 11-12 nov, Svensk förening för forskning i naturvetenskapernas didaktik. Göteborg: Göteborgs universitet..
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- I ett samarbetsprojekt inom den svenska nationella satsningen på praktiknära skolforskning arbetar lärare på förskola, skola och universitet med att utveckla undervisningen i naturvetenskap och samtidigt barnens förmåga att uttrycka sig på svenska, i en stadsdel med hög grad av multikulturalitet. En målsättning är att projektet skall leda till ämnesdidaktiska modeller att ha som utgångspunkt vid planering, genomförande och utvärdering av verksamheten. Under projektets första år har samarbetet delvis bedrivits i s.k. forskarpar, bestående av lärare från förskolans eller skolans verksamhet och lärare från universitetet. I två av grupperingarna på förskolan har arbetet kommit att handla om att utforska, förstå och lära, genom att uppmuntra och ta sin utgångspunkt i barnens upplevelser, nyfikenhet och skapande. Arbetet har dokumenterats genom gemensamma interaktiva loggböcker. Undervisningspraktiken har länge uppmärksammat betydelsen och värdet av att ”undervisa med alla sinnen” och därför använt multimodala uttrycksformer. I den ämnesdidaktiska forskningen har betydelsen av estetiska upplevelser, som kan innefatta sådant som upplevs som vackert eller trevligt, men också fult eller otrevligt, studerats med avseende på barns intresse för naturvetenskap och för vad de lär sig och förstår. Preliminära analyser av loggböckerna visar att förskolelärarna genomgående arbetar med en mängd olika uttrycksformer med hög grad av estetiska upplevelser och att barnens frågor och nyfikenhet delvis styr hur aktiviteterna utvecklas. I ett tema om jord, utforskar barn och lärare gemensamt daggmaskar. Barnen tycks utveckla omsorg om maskarna och en förståelse för hur människan kan påverka deras livsförutsättningar. Verksamheten under temat innehåller därmed en rad exempel på hur förskolans mål och riktlinjer kan förverkligas under ett och samma tema, liksom rikhaltiga exempel på multimodala uttrycksformer och på ett språkutvecklande arbetssätt. De preliminära resultaten diskuteras med avseende på om aktiviteter med ett fokus på estetiska upplevelser skulle kunna betraktas och användas som en ämnesdidaktisk modell i verksamheter med ett naturvetenskapligt innehåll.
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| 10. |
- Nyberg, Eva, 1958, et al.
(författare)
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Känslor och estetik i förskolans naturvetenskap : Emotions and aesthetics in preschool science
- 2022
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Ingår i: NorDiNa : Nordic Studies in Science Education. - : University of Oslo Library. - 1504-4556 .- 1894-1257. ; 18:2, s. 254-269
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Tidskriftsartikel (refereegranskat)abstract
- The significance of aesthetic experiences, including things perceived as beautiful or pleasant, but also ugly or unpleasant, has been studied in relation to children’s interest and learning in science. The purpose of the present study is to contribute to the development of knowledge about how aesthetics and exploratory approaches are used in preschool teaching in science. Based on this, we wanted to examine the possibility that a focus on aesthetic experiences and experiences based on living organisms or natural objects could be considered and used as a subject didactic model in activities with scientific content. The article is based on an analysis of interactive logbooks from a collaborative project between preschool and university. Our results show that aesthetic experiences and expressions appear as constantly present andin constant change and development in the preschool’s activities, and that this is driven by the children’s and educators’ curiosity and creativity in close interaction. Our conclusion is that a subject didactic model with a focus on aesthetic experiences might contribute to this didactic approach being formulated, concretized and developed in preschool teaching.
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