Sports participation for people with intellectual disabilities

There is little literature that explains the relationship between intellectual disability (ID) and physical and sensory disabilities. A review conducted in 1987 indicated increased prevalence of physical health problems amongst people with ID (McLaren & Bryson, 1987). The current classification system used by the International Federation for Para Athletes with Intellectual Disability (INAS) does not take into account any relationship between ID and physical or sensory disabilities . The present study aimed to provide evidence to enable INAS to address the potential inequalities in the classification system and to add to understanding of the relationship between ID and physical and sensory disability. Participants (N=111) were recruited from regional and international sporting events for people with ID. IQ measurements were gained either from records or by administration of an assessment. All participants, with a trusted adult, were administered a semi-structured health interview. Findings indicated a weak negative correlation between IQ and additional physical disability. The data also suggested that level of additional physical disability negatively predicts athletic performance and there is some limited support for the suggestion that IQ positively predicts performance. The findings have implications for INAS and health/social care services

Antigenic diversity is generated by distinct evolutionary mechanisms in African trypanosome species

Antigenic variation enables pathogens to avoid the host immune response by continual switching of surface proteins. The protozoan blood parasite Trypanosoma brucei causes human African trypanosomiasis ("sleeping sickness") across sub-Saharan Africa and is a model system for antigenic variation, surviving by periodically replacing a monolayer of variant surface glycoproteins (VSG) that covers its cell surface. We compared the genome of Trypanosoma brucei with two closely related parasites Trypanosoma congolense and Trypanosoma vivax, to reveal how the variant antigen repertoire has evolved and how it might affect contemporary antigenic diversity. We reconstruct VSG diversification showing that Trypanosoma congolense uses variant antigens derived from multiple ancestral VSG lineages, whereas in Trypanosoma brucei VSG have recent origins, and ancestral gene lineages have been repeatedly co-opted to novel functions. These historical differences are reflected in fundamental differences between species in the scale and mechanism of recombination. Using phylogenetic incompatibility as a metric for genetic exchange, we show that the frequency of recombination is comparable between Trypanosoma congolense and Trypanosoma brucei but is much lower in Trypanosoma vivax. Furthermore, in showing that the C-terminal domain of Trypanosoma brucei VSG plays a crucial role in facilitating exchange, we reveal substantial species differences in the mechanism of VSG diversification. Our results demonstrate how past VSG evolution indirectly determines the ability of contemporary parasites to generate novel variant antigens through recombination and suggest that the current model for antigenic variation in Trypanosoma brucei is only one means by which these parasites maintain chronic infections

Genomic Characterisation of Invasive Non-Typhoidal Salmonella enterica Subspecies enterica Serovar Bovismorbificans Isolates from Malawi

Invasive Non-typhoidal Salmonella (iNTS) are an important cause of bacteraemia in children and HIV-infected adults in sub-Saharan Africa. Previous research has shown that iNTS strains exhibit a pattern of gene loss that resembles that of host adapted serovars such as Salmonella Typhi and Paratyphi A. Salmonella enterica serovar Bovismorbificans was a common serovar in Malawi between 1997 and 2004.We sequenced the genomes of 14 Malawian bacteraemia and four veterinary isolates from the UK, to identify genomic variations and signs of host adaptation in the Malawian strains.Whole genome phylogeny of invasive and veterinary S. Bovismorbificans isolates showed that the isolates are highly related, belonging to the most common international S. Bovismorbificans Sequence Type, ST142, in contrast to the findings for S. Typhimurium, where a distinct Sequence Type, ST313, is associated with invasive disease in sub-Saharan Africa. Although genome degradation through pseudogene formation was observed in ST142 isolates, there were no clear overlaps with the patterns of gene loss seen in iNTS ST313 isolates previously described from Malawi, and no clear distinction between S. Bovismorbificans isolates from Malawi and the UK. The only defining differences between S. Bovismorbificans bacteraemia and veterinary isolates were prophage-related regions and the carriage of a S. Bovismorbificans virulence plasmid (pVIRBov).iNTS S. Bovismorbificans isolates, unlike iNTS S. Typhiumrium isolates, are only distinguished from those circulating elsewhere by differences in the mobile genome. It is likely that these strains have entered a susceptible population and are able to take advantage of this niche. There are tentative signs of convergent evolution to a more human adapted iNTS variant. Considering its importance in causing disease in this region, S. Bovismorbificans may be at the beginning of this process, providing a reference against which to compare changes that may become fixed in future lineages in sub-Saharan Africa

<i>S.</i> Bovismorbificans isolates used in this study.

<p>The table summarizes properties of the isolates used in this study, including the presence or absence of ROD13, -14 and -34, the presence of the virulence plasmid pVIRBov and the size of the accessory genome in each of the addtional 17 Illumina-sequenced <i>S.</i> Bovismorbificans genomes obtained in comparison to strain 3114.</p>#<p>M = months, Y = years ; outcome 1 = death, 2 = survived, 3 = unknown, ND = no data; N/A = not applicable; resistance profile = sulphamethoxazole (RL), cefuroxime (CXM), rifampicin (RD), amocixillin (AML), gentamicin (CN), trimethoprim (W), chloramphenicol (C), tetracycline (TET), streptomycin (S); ST refers to the MLST sequence type as determined by Illumina sequencing and sequencing of PCR amplicons,</p>*<p>SLV = Single Locus Variant; ROD13/ = partial or different ROD present.</p

(A) Representation of the <i>S.</i> Bovismorbificans chromosome.

<p>From the outside in, the outer Circle 1 shows the size in base pairs. Circles 2 and 3 show the position of CDS transcribed in a clockwise and anti-clockwise direction, respectively. Circle 4 shows Regions of Difference (RODs) common to several NTS, including pathogenicity islands (blue), fimbrial operons (orange) and phages (pink), while Circle 5 shows (RODs) in <i>S.</i> Bovismorbificans that are different or absent from <i>S.</i> Typhimurium (magenta). Circles 6 to 20 show orthologous genes of <i>S.</i> Bovismorbificans (as determined by reciprocal FASTA analysis) in: <i>S.</i> Typhimurium (LT2), <i>S.</i> Typhimurium (D23580), <i>S.</i> Typhimurium (SL1344), <i>S.</i> Enteritidis (SEN), <i>S.</i> Cholaeraesuis (Schol), <i>S.</i> Paratyphi A (SpA), <i>S.</i> Paratyphi C (ParaC), <i>S.</i> Typhi (CT18), <i>S.</i> Gallinarum (SGAL) and <i>S.</i> Arizonae in red, <i>E. coli</i> (M1655) and <i>E. coli</i> (Sakai) in blue and <i>Yersinia enterocolitica</i> (YE), <i>Yersinia pestis</i> (YPSTB) and <i>Y. pestis</i> (YP91001) in green. Circle 21 shows a plot of G+C content (in a 10-kb window). Circle 22 shows a plot of GC skew ([G _ C]/[G+C]; in a 10-kb window). Genes in circles 3 and 4 are color-coded according to the function of their gene products: dark green, membrane or surface structures; yellow, central or intermediary metabolism; cyan, degradation of macromolecules; red, information transfer/cell division; cerise, degradation of small molecules; pale blue, regulators; salmon pink, pathogenicity or adaptation; black, energy metabolism; orange, conserved hypothetical; pale green, unknown; and brown, pseudogenes. <b>(B). The virulence plasmid of </b><b><i>S.</i></b><b> Bovismorbificans 3114 pVIRBov.</b> From the outside: Circle 1 shows the size in basepairs, Circle 2 and 3 show CDSs in a clockwise and anti-clockwise direction, respectively. Circle 4 shows othologous genes of pVIRBov in pSLT of <i>S.</i> Typhimurium LT2 (red) as determined by reciprocal fasta analysis. Circle 4 shows a plot of G+C content (in a 10-kb window). Circle 5 shows a plot of GC skew ([G _ C]/[G+C]; in a 10-kb window). Genes in circles 2 and 3 are colour-coded according to the function of their gene products: dark green, membrane or surface structures; cyan, degradation of macromolecules; red, information transfer/cell division; pale blue, regulators; salmon pink, pathogenicity or adaptation; black, energy metabolism; orange, conserved hypothetical; pale green, unknown.</p

Phylogenetic tree of S. Bovismorbificans isolates and visualization of the Bovismorbificans pangenome.

<p>Maximum likelihood phylogenetic tree of <i>S.</i> Bovismorbificans isolates (left), Bootstrapping values below 100% are shown and branch length corresponds to SNPs, proportional to the shown scale (left). Colour-coded information on each strain follows to the right, including origin (A = Adult, C = Child, V = Veterinary), year of isolation (an exact date of isolation for the veterinary isolates is not known (ND) but the collection predates the 1980s), ST, antimicrobial resistance profile (RL = sulphamethoxazole, CXM = cefuroxime, RD = rifampicin, amoxicillin (AML), gentamicin (CN), trimethoprim (W), chloramphenicol (C), tetracycline (TET), streptomycin (S)) and presence or absence of the virulence plasimd pVIRBov (see key for further details, bottom). The shaded area (right) shows base positions of the pan-genome pseudomolecule (depicted above) coloured white, grey or black representing 0 (white; absent) 1–14 (grey; partially present) or 15 or more (black; present) read coverage per base for each sample. The pan-genome pseudomolecule is shown (right top) consisting of the chromosome of isolate 3114 genome (ochre shading) the virulence plasmid pVIRBov (blue shading) and concatenated accessory regions (green shading). Significant regions of variation (see methods) are marked on the pan-genome pseudomolecule: RODs 13, 14, 34 (red boxes) and SPI-7 (dark green).</p

Properties of the <i>S.</i> Bovismorbificans 3114 chromosome compared to other <i>S.</i> enterica chromosomes [22], [47], [51], [72].

<p>Properties of the <i>S.</i> Bovismorbificans 3114 chromosome compared to other <i>S.</i> enterica chromosomes <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002557#pntd.0002557-Kingsley1" target="_blank">[22]</a>, <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002557#pntd.0002557-Parkhill1" target="_blank">[47]</a>, <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002557#pntd.0002557-Thomson1" target="_blank">[51]</a>, <a href="http://www.plosntds.org/article/info:doi/10.1371/journal.pntd.0002557#pntd.0002557-McClelland2" target="_blank">[72]</a>.</p

The zebrafish reference genome sequence and its relationship to the human genome

Zebrafish have become a popular organism for the study of vertebrate gene function. The virtually transparent embryos of this species, and the ability to accelerate genetic studies by gene knockdown or overexpression, have led to the widespread use of zebrafish in the detailed investigation of vertebrate gene function and increasingly, the study of human genetic disease. However, for effective modelling of human genetic disease it is important to understand the extent to which zebrafish genes and gene structures are related to orthologous human genes. To examine this, we generated a high-quality sequence assembly of the zebrafish genome, made up of an overlapping set of completely sequenced large-insert clones that were ordered and oriented using a high-resolution high-density meiotic map. Detailed automatic and manual annotation provides evidence of more than 26,000 protein-coding genes, the largest gene set of any vertebrate so far sequenced. Comparison to the human reference genome shows that approximately 70% of human genes have at least one obvious zebrafish orthologue. In addition, the high quality of this genome assembly provides a clearer understanding of key genomic features such as a unique repeat content, a scarcity of pseudogenes, an enrichment of zebrafish-specific genes on chromosome 4 and chromosomal regions that influence sex determination