Imputation of single nucleotide polymorphism genotypes in ungenotyped sport horses from the genotypes of their progeny.

Many sport horse studbooks worldwide use microsatellite markers for parentage verification. However, many have expressed a desire to introduce genomic selection using genome-wide dense single nucleotide polymorphism (SNP) genotypes to complement their current breeding programmes. Hence, it does not make sense to genotype the same animal for both microsatellite markers and SNP markers. Transitioning to SNP-based parentage verification is an obvious solution but one barrier to this transition is the lack of SNP data on parents from which to verify parentage against. Therefore, the objective of this study was to assess the ability to impute the SNP genotype of a stallion from the genotypes of its progeny, with or without the consideration of the genotype of the progeny's dam. Genotype information from 55 935 SNPs was available on 13 327 horses. A total of 98 stallions had genotype data on 10 progeny and the genotypes of these stallions were used as a test population. Genome-wide genotype imputation was undertaken by combining a family- and population-based imputation approach. Several different scenarios were assessed to quantify the ability to accurately impute the genotype of a stallion based on genotype data of incrementally more half-sibling progeny. Using genomic information from four progeny the average genotype concordance of the imputed sire genotype compared to the actual sire's genotype was 0.932. The average genotype concordance rate increased to 0.960 when the genotypes of 10 progeny were included in the imputation process. The inclusion of the genotypes of the dams of the progeny improved the concordance rate from 0.932 to 0.977 when based on the genotype of just four progeny and their dams and from 0.960 to 0.996 when based on the genotype of 10 progeny and their dams. These results suggest it is possible to impute the genotype of a non-genotyped horse from the genotypes of its progeny and that the inclusion of the genotypes of the dams of the progeny improves this imputation accuracy further.

Intra-thoracic pyogranulomatous disease in four working dogs.

CASE HISTORY: Four working dogs were presented to veterinary clinics in New Zealand for weight loss or swelling of the thoracic wall. All dogs were large-breed males between the ages of 4 and 7 years, and actively involved in farm work. The two dogs with swelling of the thoracic wall had recent histories of work-related trauma. CLINICAL FINDINGS AND DIAGNOSIS: All four dogs were diagnosed with intra-thoracic pyogranulomatous disease via diagnostic imaging and surgical exploration. Two dogs had confirmed infection with Actinomyces viscosus, while a third had suspected Actinomyces or Nocardia spp. infection. The fourth dog had a streptococcal infection, and a grass-seed foreign body was removed at surgery. Two dogs successfully returned to work, however euthanasia was requested by the owners of the other two, either during surgery, due to intra-thoracic haemorrhage, or shortly after, with post-operative meningitis. CLINICAL RELEVANCE: Due to the high value of working dogs in New Zealand, and the higher-than-average risk profile for intra-thoracic pyogranulomatous disease, veterinarians should be aware of this syndrome, and should seek to appropriately diagnose and aggressively treat it surgically.

Interventions implemented through sporting organisations for increasing participation in sport.

BACKGROUND: There is now compelling scientific evidence that increased levels of physical activity can bring wide-ranging health benefits. These benefits can extend beyond physical health and include other positive impacts relating to mental health and personal development. The sport and recreation sector is viewed as a priority area for increasing rates of physical activity. Participation rates have been shown to be lower in females, decline with age, and are reduced in lower socio-economic and minority groups. It is important to determine the most effective interventions that sporting organisations can use to increase participation. OBJECTIVES: To review all controlled evaluation studies of interventions organised through sporting settings to increase participation. SEARCH STRATEGY: We searched The Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, PsyclNFO, CINAHL, SPORTDiscus, Sociological Abstracts, Dissertation Abstracts, and a number of freely-available online health promotion and sports-related databases. The internet was used extensively to search for studies and locate information generated by sporting bodies throughout the world. SELECTION CRITERIA: Types of studies: Controlled evaluation studies. No minimum follow-up required. Uncontrolled studies, meeting other inclusion criteria, were to be reported in an annex to the review. TYPES OF PARTICIPANTS: People of all ages. Types of interventions: Any intervention designed to increase active and/ or non-active participation in sport. These could include: mass media campaigns; information or education sessions; management or organisational change strategies; policy changes, for example to improve the socio-cultural environment to encourage people of specific age, gender or ethnicity to participate; changes to traditional or existing programs, for example club or association-initiated rule modification programs; provision of activities beyond traditional or existing programs, for example 'Come and Try' initiatives (teaser or taster programs); skill improvement programs; volunteer encouragement programs. Types of outcome measures: Change in the number of (active and non-active) participants in organised sport, change in status from non-participating to non-active or active participation, change in status from non-active to active participation. DATA COLLECTION AND ANALYSIS: We assessed whether identified citations were controlled evaluation studies which investigated the use of interventions implemented in sporting settings to increase participation. Two reviewers independently inspected abstracts. We obtained full papers where necessary. As no controlled evaluation studies were located, no data collection or analysis was undertaken. No uncontrolled studies meeting other inclusion criteria were identified and therefore no annex is presented. MAIN RESULTS: Despite a thorough review of the published and unpublished literature, we were unable to locate any rigorous studies which tested the effects of interventions organised through sporting organisations to increase participation in sport. AUTHORS' CONCLUSIONS: There is an absence of high quality evidence to support interventions designed and delivered by sporting organisations to increase participation in sport. Interventions funded and conducted in this area must be linked to a rigorous evaluation strategy in order to examine overall effectiveness, sociodemographic differentials in participation and cost-effectiveness of these strategies.

Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome.

Williams syndrome (WS) is a contiguous gene deletion disorder resulting in complex and intriguing clinical features. Detailed molecular characterization studies of the genomic segment on human chromosome 7q11.23 commonly deleted in WS have uncovered numerous genes, each of which is being actively studied for its possible role in the etiology of the syndrome. Our efforts have focused on the comparative mapping and sequencing of the WS region in human and mouse. In previous studies, we uncovered important differences in the long-range organization of these human and mouse genomic regions; in particular, the notable absence of large duplicated blocks of DNA in mouse that are present in human. Aided by available genomic sequence data, we have used a combination of gene-prediction programs and cDNA isolation to identify the human and mouse orthologs of a novel gene (WBSCR15 and Wbscr15, respectively) residing within the genomic segment commonly deleted in WS. Unlike the flanking genes, which are closely related in human and mouse, WBSCR15 and Wbscr15 are strikingly different with respect to their cDNA and corresponding protein sequences as well as tissue-expression pattern. Neither the WBSCR15- nor Wbscr15-encoded amino acid sequence shows a statistically significant similarity to any characterized protein. These findings reveal another interesting evolutionary difference between the human and mouse WS regions and provide an additional candidate gene to evaluate with respect to its possible role in the pathogenesis of WS.

Intracellular gene transfer in action: dual transcription and multiple silencings of nuclear and mitochondrial cox2 genes in legumes.

The respiratory gene cox2, normally present in the mitochondrion, was previously shown to have been functionally transferred to the nucleus during flowering plant evolution, possibly during the diversification of legumes. To search for novel intermediate stages in the process of intracellular gene transfer and to assess the evolutionary timing and frequency of cox2 transfer, activation, and inactivation, we examined nuclear and mitochondrial (mt) cox2 presence and expression in over 25 legume genera and mt cox2 presence in 392 genera. Transfer and activation of cox2 appear to have occurred during recent legume evolution, more recently than previously inferred. Many intermediate stages of the gene transfer process are represented by cox2 genes in the studied legumes. Nine legumes contain intact copies of both nuclear and mt cox2, although transcripts could not be detected for some of these genes. Both cox2 genes are transcribed in seven legumes that are phylogenetically interspersed with species displaying only nuclear or mt cox2 expression. Inactivation of cox2 in each genome has taken place multiple times and in a variety of ways, including loss of detectable transcripts or transcript editing and partial to complete gene loss. Phylogenetic evidence shows about the same number (3-5) of separate inactivations of nuclear and mt cox2, suggesting that there is no selective advantage for a mt vs. nuclear location of cox2 in plants. The current distribution of cox2 presence and expression between the nucleus and mitochondrion in the studied legumes is probably the result of chance mutations silencing either cox2 gene.

Origins, colonization, and lineage recombination in a widespread perennial soybean polyploid complex.

Polyploidy is a dominant feature of flowering plant genomes, including those of many important crop species, implying that polyploidy confers evolutionary advantages on plant species. Recent molecular studies suggest that polyploids often originate many times from the same progenitor diploids. For this to provide a broader genetic base for a polyploid species, there must be lineage recombination in the genomes of polyploids having different origins, and this has rarely been documented in recently formed wild polyploid species. Glycine tabacina, a wild relative of soybean, forms a widespread polyploid complex in Australia and the islands of the Pacific Ocean. In a sample of 40 G. tabacina plants, DNA sequence variation at one homoeologous histone H3-D locus identified three alleles, each also found in Australian diploid Glycine species. These data agree with our previous studies of chloroplast DNA variation in suggesting that this polyploid has originated several times. Both the origins of the polyploid and several independent dispersals from Australia to oceanic islands appear to have occurred within the last 30,000 years. The distributions of histone alleles, chloroplast haplotypes, and alleles at two isozyme loci were uncorrelated, and 20 multilocus genotypes were found among the 40 plants sampled. Extensive lineage recombination is thus hypothesized in the polyploid, involving migration and occasional outcrossing in this predominantly inbreeding species. The combination of multiple origins with gene exchange among lineages increases the genetic base of a polyploid and may help explain the wide colonization of polyploid G. tabacina relative to its diploid progenitors.