| 1. |
- Bravo, L, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 2. |
- Tabiri, S, et al.
(författare)
-
- 2021
-
swepub:Mat__t
|
|
| 3. |
- Heywood, I., et al.
(författare)
-
Inflation of 430-parsec bipolar radio bubbles in the Galactic Centre by an energetic event
- 2019
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 573:7773, s. 235-237
-
Tidskriftsartikel (refereegranskat)abstract
- The Galactic Centre contains a supermassive black hole with a mass of four million Suns1 within an environment that differs markedly from that of the Galactic disk. Although the black hole is essentially quiescent in the broader context of active galactic nuclei, X-ray observations have provided evidence for energetic outbursts from its surroundings2. Also, although the levels of star formation in the Galactic Centre have been approximately constant over the past few hundred million years, there is evidence of increased short-duration bursts3, strongly influenced by the interaction of the black hole with the enhanced gas density present within the ring-like central molecular zone4 at Galactic longitude |l| < 0.7 degrees and latitude |b| < 0.2 degrees. The inner 200-parsec region is characterized by large amounts of warm molecular gas5, a high cosmic-ray ionization rate6, unusual gas chemistry, enhanced synchrotron emission7,8, and a multitude of radio-emitting magnetized filaments9, the origin of which has not been established. Here we report radio imaging that reveals a bipolar bubble structure, with an overall span of 1 degree by 3 degrees (140 parsecs × 430 parsecs), extending above and below the Galactic plane and apparently associated with the Galactic Centre. The structure is edge-brightened and bounded, with symmetry implying creation by an energetic event in the Galactic Centre. We estimate the age of the bubbles to be a few million years, with a total energy of 7 × 1052 ergs. We postulate that the progenitor event was a major contributor to the increased cosmic-ray density in the Galactic Centre, and is in turn the principal source of the relativistic particles required to power the synchrotron emission of the radio filaments within and in the vicinity of the bubble cavities.
|
|
| 4. |
- Walters, R G, et al.
(författare)
-
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
- 2010
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 463:7281, s. 671-5
-
Tidskriftsartikel (refereegranskat)abstract
- Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
|
|
| 5. |
- Molin, Anna-Maja, et al.
(författare)
-
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
- 2012
-
Ingår i: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 49:2, s. 104-109
-
Tidskriftsartikel (refereegranskat)abstract
- Background Congenital deletions affecting 3q11q23 have rarely been reported and only five cases have been molecularly characterised. Genotype. phenotype correlation has been hampered by the variable sizes and breakpoints of the deletions. In this study, 14 novel patients with deletions in 3q11q23 were investigated and compared with 13 previously reported patients. Methods Clinical data were collected from 14 novel patients that had been investigated by high resolution microarray techniques. Molecular investigation and updated clinical information of one cytogenetically previously reported patient were also included. Results The molecular investigation identified deletions in the region 3q12.3q21.3 with different boundaries and variable sizes. The smallest studied deletion was 580 kb, located in 3q13.31. Genotype. phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum and protruding lips. Abnormal genitalia were found in the majority of males, several having micropenis. Finally, a postnatal growth pattern above the mean was apparent. The 580 kb deleted region includes five RefSeq genes and two of them are strong candidate genes for the developmental delay: DRD3 and ZBTB20. Conclusion A newly recognised 3q13.31 microdeletion syndrome is delineated which is of diagnostic and prognostic value. Furthermore, two genes are suggested to be responsible for the main phenotype.
|
|
| 6. |
- Steyn, L. A.I., et al.
(författare)
-
Phylogeny of Holocacista capensis (Lepidoptera: Heliozelidae) from Vineyards and Natural Forests in South Africa Inferred from Mitochondrial and Nuclear Genes
- 2023
-
Ingår i: South African Journal of Enology and Viticulture. - 0253-939X. ; 44:1, s. 64-74
-
Tidskriftsartikel (refereegranskat)abstract
- In South Africa, the family Heliozelidae in the order Lepidoptera is restricted to four known species. The grapevine leaf miner, Holocacista capensis, feeds between the epidermal layers of a grapevine leaf, predominantly along the leaf margin. A final instar larva will descend from the blotch mine/gallery to attach its cocoon casing (constructed from the epidermal layers of the mined gallery) to any object below the infested leaf. Five monophyletic clades and a polyphyletic group have been identified within the Heliozelidae, using a mitochondrially encoded gene cytochrome c oxidase I (COI) and a nuclear gene, histone 3 (H3). An exploratory study of the genetic diversity within H. capensis populations was conducted using these genes. The phylogenetic analyses of COI indicate that H. capensis that are currently being collected from South Africa fall within three clades/haplotypes, of which one is well supported and contains only one species from Gauteng, and one has three specimens from two different areas in the Western Cape province, while 80% belong to haplotype 1 (H1). The current study can be used as a starting point for future DNA-based studies aimed at gaining insight into possible patterns of diversity in H. capensis to confirm switching from native to commercial grapevine hosts. However, more samples need to be collected from different areas in South Africa.
|
|
| 7. |
|
|
| 8. |
- Green, Paul F., et al.
(författare)
-
Post-breakup burial and exhumation of the southern margin of Africa
- 2017
-
Ingår i: Basin Research. - : Wiley-Blackwell. - 0950-091X .- 1365-2117. ; 29:1, s. 96-127
-
Tidskriftsartikel (refereegranskat)abstract
- Despite many years of study, the processes involved in the development of the continental margin of southern Africa and the distinctive topography of the hinterland remain poorly understood. Previous thermochronological studies carried out within a monotonic cooling framework have failed to take into account constraints provided by Mesozoic sedimentary basins along the southern margin. We report apatite fission track analysis and vitrinite reflectance data in outcrop samples from the Late Jurassic to Early Cretaceous sedimentary fill of the Oudtshoorn, Gamtoos and Algoa Basins (Uitenhage Group), as well as isolated sedimentary remnants further west, plus underlying Paleozoic rocks (Cape Supergroup) and Permian-Triassic sandstones from the Karoo Supergroup around the Great Escarpment. Results define a series of major regional cooling episodes. Latest Triassic to Early Jurassic cooling which began between 205 and 180 Ma is seen dominantly in basement flanks to the Algoa and Gamtoos Basins. This episode may have affected a wider region but in most places any effects have been overprinted by later events. The effects of Early Cretaceous (beginning between 145 and 130 Ma) and Early to mid-Cretaceous (120-100 Ma) cooling are both delimited by major structures, while Late Cretaceous (85-75 Ma) cooling appears to have affected the whole region. These cooling events are all interpreted as dominantly reflecting exhumation. Higher Late Cretaceous paleotemperatures in samples from the core of the Swartberg Range, coupled with evidence for localised Cenozoic cooling, are interpreted as representing Cenozoic differential exhumation of the mountain range. Late Cretaceous paleotemperatures between 60 degrees C and 90 degrees C in outcropping Uitenhage Group sediments from the Oudtshoorn, Gamtoos and Algoa Basins require burial by between 1.2 and 2.2 km prior to Late Cretaceous exhumation. Because these sediments lie in depositional contact with underlying Paleozoic rocks in many places, relatively uniform Late Cretaceous paleotemperatures across most of the region, in samples of both basin fill and underlying basement, suggest the whole region may have been buried prior to Late Cretaceous exhumation. Cenozoic cooling (beginning between 30 and 20 Ma) is focussed mainly in mountainous regions and is interpreted as representing denudation which produced the modern-day relief. Features such as the Great Escarpment are not related to continental break up, as is often supposed, but are much younger (post-30 Ma). This history of post-breakup burial and subsequent episodic exhumation is very different from conventional ideas of passive margin evolution, and requires a radical re-think of models for development of continental margins.
|
|
| 9. |
|
|
