| 1. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 2. |
- Chioza, B., et al.
(författare)
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Evaluation of CACNA1H in European patients with childhood absence epilepsy
- 2006
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Ingår i: Epilepsy Res. - : Elsevier BV. - 0920-1211. ; 69:2, s. 177-81
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Tidskriftsartikel (refereegranskat)abstract
- CACNA1H was evaluated in a resource of Caucasian European patients with childhood absence epilepsy by linkage analysis and typing of sequence variants previously identified in Chinese patients. Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients.
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| 3. |
- Everett, K. V., et al.
(författare)
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Linkage and association analysis of CACNG3 in childhood absence epilepsy
- 2007
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Ingår i: Eur J Hum Genet. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 15:4, s. 463-72
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.
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| 4. |
- Chioza, Barry A., et al.
(författare)
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Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
- 2009
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Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
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Tidskriftsartikel (refereegranskat)abstract
- Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.
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| 5. |
- Gardiner, T., et al.
(författare)
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Trend analysis of greenhouse gases over Europe measured by a network of ground-based remote FTIR instruments
- 2008
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 8:22, s. 6719-6727
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Tidskriftsartikel (refereegranskat)abstract
- This paper describes the statistical analysis of annual trends in long term datasets of greenhouse gas measurements taken over ten or more years. The analysis technique employs a bootstrap resampling method to determine both the long-term and intra-annual variability of the datasets, together with the uncertainties on the trend values. The method has been applied to data from a European network of ground-based solar FTIR instruments to determine the trends in the tropospheric, stratospheric and total columns of ozone, nitrous oxide, carbon monoxide, methane, ethane and HCFC-22. The suitability of the method has been demonstrated through statistical validation of the technique, and comparison with ground-based in-situ measurements and 3-D atmospheric models.
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| 6. |
- Vigouroux, C., et al.
(författare)
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Evaluation of tropospheric and stratospheric ozone trends over Western Europe from ground-based FTIR network observations
- 2008
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 8:23, s. 6865-6886
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Tidskriftsartikel (refereegranskat)abstract
- Within the European project UFTIR (Time series of Upper Free Troposphere observations from an European ground-based FTIR network), six ground-based stations in Western Europe, from 79 degrees N to 28 degrees N, all equipped with Fourier Transform infrared (FTIR) instruments and part of the Network for the Detection of Atmospheric Composition Change (NDACC), have joined their efforts to evaluate the trends of several direct and indirect greenhouse gases over the period 1995-2004. The retrievals of CO, CH4, C2H6, N2O, CHClF2, and O-3 have been optimized. Using the optimal estimation method, some vertical information can be obtained in addition to total column amounts. A bootstrap resampling method has been implemented to determine annual partial and total column trends for the target gases. The present work focuses on the ozone results. The retrieved time series of partial and total ozone columns are validated with ground-based correlative data (Brewer, Dobson, UV-Vis, ozonesondes, and Lidar). The observed total column ozone trends are in agreement with previous studies: 1) no total column ozone trend is seen at the lowest latitude station Izana (28 degrees N); 2) slightly positive total column trends are seen at the two mid-latitude stations Zugspitze and Jungfraujoch (47 degrees N), only one of them being significant; 3) the highest latitude stations Harestua (60 degrees N), Kiruna (68 degrees N) and Ny-Alesund (79 degrees N) show significant positive total column trends. Following the vertical information contained in the ozone FTIR retrievals, we provide partial columns trends for the layers: ground-10 km, 10-18 km, 18-27 km, and 27-42 km, which helps to distinguish the contributions from dynamical and chemical changes on the total column ozone trends. We obtain no statistically significant trends in the ground-10 km layer for five out of the six ground-based stations. We find significant positive trends for the lower-most stratosphere at the two mid-latitude stations, and at Ny-Alesund. We find smaller, but significant trends for the 18 27 km layer at Kiruna, Harestua, Jungfraujoch, and Izana. The results for the upper layer are quite contrasted: we find significant positive trends at Kiruna, Harestua, and Jungfraujoch, and significant negative trends at Zugspitze and Izana. These ozone partial columns trends are discussed and compared with previous studies.
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