| 1. |
- Einarsdottir, Elisabet, et al.
(författare)
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Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
- 2015
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 134:11-12, s. 1239-1248
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Tidskriftsartikel (refereegranskat)abstract
- Developmental dyslexia is the most common learning disorder in children. Problems in reading and writing are likely due to a complex interaction of genetic and environmental factors, resulting in reduced power of studies of the genetic factors underlying developmental dyslexia. Our approach in the current study was to perform exome sequencing of affected and unaffected individuals within an extended pedigree with a familial form of developmental dyslexia. We identified a two-base mutation, causing a p.R229L amino acid substitution in the centrosomal protein 63 kDa (CEP63), co-segregating with developmental dyslexia in this pedigree. This mutation is novel, and predicted to be highly damaging for the function of the protein. 3D modelling suggested a distinct conformational change caused by the mutation. CEP63 is localised to the centrosome in eukaryotic cells and is required for maintaining normal centriole duplication and control of cell cycle progression. We found that a common polymorphism in the CEP63 gene had a significant association with brain white matter volume. The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. We hypothesise that CEP63 is particularly important for brain development and might control the proliferation and migration of cells when those two events need to be highly coordinated.
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| 2. |
- Johansson, Åsa, et al.
(författare)
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Evaluation of the SNP tagging approach in an independent population sample : Array-based SNP discovery in Sami
- 2007
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 122:2, s. 141-150
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Tidskriftsartikel (refereegranskat)abstract
- Significant efforts have been made to determine the correlation structure of common SNPs in the human genome. One method has been to identify the sets of tagSNPs that capture most of the genetic variation. Here, we evaluate the transferability of tagSNPs between populations using a population sample of Sami, the indigenous people of Scandinavia. Array-based SNP discovery in a 4.4 Mb region of 28 phased copies of chromosome 21 uncovered 5,132 segregating sites, 3,188 of which had a minimum minor allele frequency (mMAF) of 0.1. Due to the population structure and consequently high LD, the number of tagSNPs needed to capture all SNP variation in Sami is much lower than that for the HapMap populations. TagSNPs identified from the HapMap data perform only slightly better in the Sami than choosing tagSNPs at random from the same set of common SNPs. Surprisingly, tagSNPs defined from the HapMap data did not perform better than selecting the same number of SNPs at random from all SNPs discovered in Sami. Nearly half (46%) of the Sami SNPs with a mMAF of 0.1 are not present in the HapMap dataset. Among sites overlapping between Sami and HapMap populations, 18% are not tagged by the European American (CEU) HapMap tagSNPs, while 43% of the SNPs that are unique to Sami are not tagged by the CEU tagSNPs. These results point to serious limitations in the transferability of common tagSNPs to capture random sequence variation, even between closely related populations, such as CEU and Sami.
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| 3. |
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| 4. |
- Hu, M., et al.
(författare)
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Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data
- 2012
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 131:5, s. 665-674
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Tidskriftsartikel (refereegranskat)abstract
- We have investigated whether regions of the genome showing signs of positive selection in scans based on haplotype structure also show evidence of positive selection when sequence-based tests are applied, whether the target of selection can be localized more precisely, and whether such extra evidence can lead to increased biological insights. We used two tools: simulations under neutrality or selection, and experimental investigation of two regions identified by the HapMap2 project as putatively selected in human populations. Simulations suggested that neutral and selected regions should be readily distinguished and that it should be possible to localize the selected variant to within 40 kb at least half of the time. Re-sequencing of two ∼300 kb regions (chr4:158Mb and chr10:22Mb) lacking known targets of selection in HapMap CHB individuals provided strong evidence for positive selection within each and suggested the micro-RNA gene hsa-miR-548c as the best candidate target in one region, and changes in regulation of the sperm protein gene SPAG6 in the other.
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| 5. |
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| 6. |
- Fuchs, Jürgen, 1957-, et al.
(författare)
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Bicategories for boundary conditions and for surface defects in 3-d TFT
- 2013
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Ingår i: Communications in Mathematical Physics. - Berlin : Springer. - 0010-3616 .- 1432-0916. ; 321:2, s. 543-575
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Tidskriftsartikel (refereegranskat)abstract
- We analyze topological boundary conditions and topological surface defects in three-dimensional topological field theories of Reshetikhin-Turaev type based on arbitrary modular tensor categories. Boundary conditions are described by central functors that lift to trivializations in the Witt group of modular tensor categories. The bicategory of boundary conditions can be described through the bicategory of module categories over any such trivialization. A similar description is obtained for topological surface defects. Using string diagrams for bicategories we also establish a precise relation between special symmetric Frobenius algebras and Wilson lines involving special defects. We compare our results with previous work of Kapustin-Saulina and of Kitaev-Kong on boundary conditions and surface defects in abelian Chern-Simons theories and in Turaev-Viro type TFTs, respectively
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| 7. |
- Andersson, Mats, 1957, et al.
(författare)
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Division formulas on projective varieties
- 2016
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Ingår i: Mathematische Zeitschrift. - : Springer Science and Business Media LLC. - 0025-5874 .- 1432-1823. ; 284:1, s. 575-593
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Tidskriftsartikel (refereegranskat)abstract
- We introduce a division formula on a possibly singular projective subvariety X of complex projective space PN, which, e.g., provides explicit representations of solutions to various polynomial division problems on the affine part of X. Especially we consider a global effective version of the Briançon–Skoda–Huneke theorem. The first author was partially supported by the Swedish Research Council. The second author was supported by a postdoc grant from the Swedish Research Council.
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| 8. |
- Fuchs, Jürgen, et al.
(författare)
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A geometric approach to boundaries and surface defects in Dijkgraaf-Witten theories
- 2014
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Ingår i: Communications in Mathematical Physics. - : Springer Science and Business Media LLC. - 0010-3616 .- 1432-0916. ; 332, s. 981-1015
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Tidskriftsartikel (refereegranskat)abstract
- Dijkgraaf-Witten theories are extended three-dimensional topological field theories of Turaev-Viro type. They can be constructed geometrically from categories of bundles via linearization. Boundaries and surface defects or interfaces in quantum field theories are of interest in various applications and provide structural insight. We perform a geometric study of boundary conditions and surface defects in Dijkgraaf-Witten theories. A crucial tool is the linearization of categories of relative bundles. We present the categories of generalized Wilson lines produced by such a linearization procedure. We establish that they agree with the Wilson line categories that are predicted by the general formalism for boundary conditions and surface defects in three-dimensional topological field theories that has been developed in arXive:1203.4568.
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