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- van Es, Michael A, et al.
(författare)
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- 2009
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:10, s. 1083-1087
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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- Ellis, W. Chadwick, et al.
(författare)
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Bis phenylene flattened 13-membered tetraamide macrocyclic ligand (TAML) for square planar cobalt(III)
- 2018
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Ingår i: Journal of coordination chemistry (Print). - : TAYLOR & FRANCIS LTD. - 0095-8972 .- 1029-0389. ; 71:11-13, s. 1822-1836
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Tidskriftsartikel (refereegranskat)abstract
- The preparation, characterization, and evaluation of a cobalt(III) complex [CO{(OC)2(o,o'-NC6H4NCO)2CMe2}(OH2)]- with 13-membered tetraamide macrocyclic ligand (TAML) is described. This is a square-planar (X-ray) S=1 paramagnetic (H-1 NMR) compound, which becomes an S=0 diamagnetic octahedral species in excess d(5)-pyridine. Its one-electron oxidation at an electrode is fully reversible with the lowest E-1/2 value (0.66V vs SCE) among all investigated Co-III TAML complexes. The oxidation results in a neutral blue species which is consistent with a Co-III/radical-cation ligand. The ease of oxidation is likely due to the two benzene rings incorporated in the ligand structure (whereas there is just one in many other Co-III TAMLs). The oxidized neutral species are unexpectedly EPR silent, presumably due to the -stacking aggregation. However, they display eight-line hyperfine patterns in the presence of excess of 4-tert-butylpyridine or 4-tert-butyl isonitrile. The EPR spectra are more consistent with the Co-III/radical-cation ligand formulation rather than with a Co-IV complex. Attempts to synthesize a similar vanadium complex under the same conditions as for cobalt using [(VO)-O-V(OCHMe2)(3)] were not successful. TAML-free decavanadate was isolated instead. [GRAPHICS] .
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- Loughran, SJ, et al.
(författare)
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Mbd3/NuRD controls lymphoid cell fate and inhibits tumorigenesis by repressing a B cell transcriptional program
- 2017
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Ingår i: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 214:10, s. 3085-3104
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Tidskriftsartikel (refereegranskat)abstract
- Differentiation of lineage-committed cells from multipotent progenitors requires the establishment of accessible chromatin at lineage-specific transcriptional enhancers and promoters, which is mediated by pioneer transcription factors that recruit activating chromatin remodeling complexes. Here we show that the Mbd3/nucleosome remodeling and deacetylation (NuRD) chromatin remodeling complex opposes this transcriptional pioneering during B cell programming of multipotent lymphoid progenitors by restricting chromatin accessibility at B cell enhancers and promoters. Mbd3/NuRD-deficient lymphoid progenitors therefore prematurely activate a B cell transcriptional program and are biased toward overproduction of pro–B cells at the expense of T cell progenitors. The striking reduction in early thymic T cell progenitors results in compensatory hyperproliferation of immature thymocytes and development of T cell lymphoma. Our results reveal that Mbd3/NuRD can regulate multilineage differentiation by constraining the activation of dormant lineage-specific enhancers and promoters. In this way, Mbd3/NuRD protects the multipotency of lymphoid progenitors, preventing B cell–programming transcription factors from prematurely enacting lineage commitment. Mbd3/NuRD therefore controls the fate of lymphoid progenitors, ensuring appropriate production of lineage-committed progeny and suppressing tumor formation.
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- Morinière, Jérôme, et al.
(författare)
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Phylogenetic niche conservatism explains an inverse latitudinal diversity gradient in freshwater arthropods.
- 2016
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- The underlying mechanisms responsible for the general increase in species richness from temperate regions to the tropics remain equivocal. Many hypotheses have been proposed to explain this astonishing pattern but additional empirical studies are needed to shed light on the drivers at work. Here we reconstruct the evolutionary history of the cosmopolitan diving beetle subfamily Colymbetinae, the majority of which are found in the Northern hemisphere, hence exhibiting an inversed latitudinal diversity gradient. We reconstructed a dated phylogeny using 12 genes, to investigate the biogeographical history and diversification dynamics in the Colymbetinae. We aimed to identify the role that phylogenetic niche conservatism plays in the inversed diversification pattern seen in this group. Our results suggest that Colymbetinae originated in temperate climates, which supports the hypothesis that their distribution is the result of an ancestral adaptation to temperate environmental conditions rather than tropical origins, and that temperate niche conservatism can generate and/or maintain inverse latitudinal diversity gradients.
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