| 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. |
- Friedman, James S., et al.
(författare)
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Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
- 2006
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Ingår i: American Journal of Human Genetics. - 0002-9297. ; 79:6, s. 1059-1070
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Tidskriftsartikel (refereegranskat)abstract
- The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration. Using the positional candidate approach, we have identified a C -> T substitution in a novel gene, Rd3, that encodes an evolutionarily conserved protein of 195 amino acids. The rd3 mutation results in a predicted stop codon after residue 106. This change is observed in four rd3 lines derived from the original collected mice but not in the nine wild-type mouse strains that were examined. Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development. In transiently transfected COS-1 cells, the RD3-fusion protein shows subnuclear localization adjacent to promyelocytic leukemia-gene-product bodies. The truncated mutant RD3 protein is detectable in COS-1 cells but appears to get degraded rapidly. To explore potential association of the human RD3 gene at chromosome 1q32 with retinopathies, we performed a mutation screen of 881 probands from North America, India, and Europe. In addition to several alterations of uncertain significance, we identified a homozygous alteration in the invariant G nucleotide of the RD3 exon 2 donor splice site in two siblings with Leber congenital amaurosis. This mutation is predicted to result in premature truncation of the RD3 protein, segregates with the disease, and is not detected in 121 ethnically matched control individuals. We suggest that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
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| 3. |
- Parihar, Vishal Singh, et al.
(författare)
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Characterization of human invasive isolates of Listeria monocytogenes in Sweden 1986-2007
- 2008
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Ingår i: Foodborne pathogens and disease. - : Mary Ann Liebert. - 1535-3141 .- 1556-7125. ; 5:6, s. 755-761
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Tidskriftsartikel (refereegranskat)abstract
- Since 1986, 68% of the Listeria monocytogenes isolates from human cases of invasive listeriosis in Sweden are available for retrospective studies. The aim of the present study was to characterize 601 human invasive isolates of L. monocytogenes in Sweden from 1986 to 2007 by using serotyping and pulsed-field gel electrophoresis. Since 1996, serovar 4b was permanently reduced to the second or third most common serovar in human cases in Sweden. During the latter period, 2000-2007, only 13% belonged to serovar 4b and 71% to 1/2a. The dendrogram, based on pulsovars, reveals two clusters with different serovars. Cluster 1 exhibits serovars 4b and 1/2b, whereas cluster 2 consists of serovar 1/2a. Serovar 1/2a seems to be more heterogeneous than serovar 4b.
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| 4. |
- Singh, Ram N, et al.
(författare)
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Hydride induced embrittlement of zirconium alloy pressure tubes
- 2007
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Ingår i: Proceedings of the 13th International Conference on Environmental Degradation of Materials in Nuclear Power Systems.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Zirconium alloy tubes act as miniature pressure vessels in Pressurized Heavy Water Reactors (PHWR) and are subjected to aqueous corrosion resulting in hydrogen pick up. Hydrogen exceeding solid solubility precipitates out as brittle hydride phase and may cause embrittlement of the host matrix. Two forms of embrittlement have been recognized for dilute zirconium alloy pressure tubes – gross and localized. Gross embrittlement is caused due to uniformly distributed precipitate, whereas localized embrittlement is caused by hydrogen migration leading to damage accumulation within a small region over a period of time before catastrophic failure of the component may occur. The parameters like fracture toughness, threshold stress for reorientation of hydrides, threshold hydrogen concentration for blister formation, delayed hydride cracking (DHC) velocity, threshold stress intensity factor for DHC initiation are used as fitness criteria for service assessment of the pressure tubes. In this paper, some of the results generated using Indian pressure tube material will be discussed.
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