| 1. |
- Olive, M, et al.
(författare)
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 1396-
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Tidskriftsartikel (refereegranskat)abstract
- Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.
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| 2. |
- Ramirez, Kelly S., et al.
(författare)
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Detecting macroecological patterns in bacterial communities across independent studies of global soils
- 2018
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Ingår i: Nature Microbiology. - : NATURE PUBLISHING GROUP. - 2058-5276. ; 3:2, s. 189-196
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Tidskriftsartikel (refereegranskat)abstract
- The emergence of high-throughput DNA sequencing methods provides unprecedented opportunities to further unravel bacterial biodiversity and its worldwide role from human health to ecosystem functioning. However, despite the abundance of sequencing studies, combining data from multiple individual studies to address macroecological questions of bacterial diversity remains methodically challenging and plagued with biases. Here, using a machine-learning approach that accounts for differences among studies and complex interactions among taxa, we merge 30 independent bacterial data sets comprising 1,998 soil samples from 21 countries. Whereas previous meta-analysis efforts have focused on bacterial diversity measures or abundances of major taxa, we show that disparate amplicon sequence data can be combined at the taxonomy-based level to assess bacterial community structure. We find that rarer taxa are more important for structuring soil communities than abundant taxa, and that these rarer taxa are better predictors of community structure than environmental factors, which are often confounded across studies. We conclude that combining data from independent studies can be used to explore bacterial community dynamics, identify potential 'indicator' taxa with an important role in structuring communities, and propose hypotheses on the factors that shape bacterial biogeography that have been overlooked in the past.
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| 3. |
- Tait, J., et al.
(författare)
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The Ahmeyim Great Dyke of Mauritania: A newly dated Archaean intrusion
- 2013
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Ingår i: Lithos. - : Elsevier BV. - 0024-4937. ; 174, s. 323-332
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Tidskriftsartikel (refereegranskat)abstract
- A precise U-Pb baddeleyite age of 2733 +/- 2 Ma has been obtained for the Ahmeyim Great Dyke of Mauritania that intruded into the Tasiast-Tijirit Terrane of the Reguibat Shield, NW Mauritania. This dyke is approximately 1500 m wide at the sampling area and extends for more than 150 km NNE/SSW. Major and trace element geochemistry of the dyke indicates that the magmas that formed this intrusive body were sub-alkaline, tholeiitic and boninitic, and the presence of a negative Nb anomaly indicates the involvement of subducted oceanic lithosphere during magma genesis, most likely an inherited signature from earlier subduction events and the Mesoarchaean collision of the Tasiast-Tijirit and Choum-Rag el Abiod Terranes. A palaeomagnetic study was also undertaken on samples collected from two different sections across the dyke. However, no within- or inter-site grouping of any palaeomagnetic directions could be identified, thus precluding any palaeographic interpretation. The Ahmeyim Great Dyke is interpreted to be part of the feeder system for a 2733 Ma Large Igneous Province (LIP); tholeiitic-komatiitic greenstone belts of this age are absent in the West African Craton (WAC) but are present on many other blocks. However, additional constraints are required to reliably link the Ahmeyim Great Dyke with any other such LIP-type greenstone belts in late Archaean supercontinent reconstructions. The magmas that formed the Ahmeyim Great Dyke were boninitic; this, combined with evidence of crustal contamination, the scale of the dyke and its potential link (as a feeder) to greenstone belts of tholeiitic-komatiitic affiliation within other crustal blocks suggests that it, and cogenetic magmatic units elsewhere, may be prospective for magmatic Ni-Cu-PGE sulphide exploration. (C) 2012 Published by Elsevier B.V.
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