Genetic testing of canine degenerative myelopathy in the South African Boxer dog population

Canine degenerative myelopathy (DM) is a progressive disease process that is diagnosed late in life and mainly affects the pelvic limbs. Factors that make an ante-mortem definitive diagnosis of DM include: an insidious onset and clinical manifestation that mimics other disease processes of the pelvic limbs (hip dysplasia, cranial cruciate ligament rupture, etc.) or there may even be concurrent disease processes, old-age onset and lack of reliable diagnostic methods. Until recently, South African dog owners had to submit samples to laboratories overseas for genetic testing in order to confirm an affected dog (homozygous A/A) and to aid in the ante-mortem diagnosis of DM. Only affected dogs have been confirmed to manifest the clinical signs of DM. This study aimed to verify whether genetic testing by a local genetic laboratory was possible in order to detect a missense mutation of the superoxide dismutase gene (SOD1) that is implicated in causing the clinical signs of DM. The study also aimed to detect and map the inheritance of this disease process in a local Boxer dog population where the pedigree of the sampled population was known. Venous blood collected from Boxer dogs using a simple random sampling technique. The samples were genotyped for the SOD1:c.118G>A polymorphism. Carrier and affected Boxer dogs were detected. A pedigree that demonstrated the significance of inheriting a carrier or affected state in the population was mapped. The present study concludes that genotyping of the missense mutation in Boxer dogs is possible in South Africa. There are carrier and affected Boxer dogs in the local population, making DM a plausible diagnosis in aged dogs presenting with pelvic limb pathology

Genome-Wide snp analysis of southern african populations provides new insights into the dispersal of bantu-Speaking groups

The expansion of Bantu-speaking agropastoralist populations had a great impact on the genetic, linguistic, and cultural variation of sub-Saharan Africa. It isgenerally accepted that Bantulanguages originated inanarea around thepresent borderbetweenCameroon and Nigeria approximately 5,000 years ago, from where they spread South and East becoming the largest African linguistic branch. The demic consequences of this event are reflected in the relatively high genetic homogeneity observed acrossmost of sub-Saharan Africapopulations. Inthiswork, weexploredgenome-wide singlenucleotidepolymorphismdata from28populations to characterize the genetic components present in sub-Saharan African populations. Combining novel data from four SouthernAfrican populations withpreviouslypublishedresults,we reject the hypothesis that the" non-Bantu" geneticcomponent reported inSouth-Eastern Africa (Mozambique) reflects extensive gene flow between incoming agriculturalist and resident hunter-gatherer communities.We alternatively suggest that this novel component is the result of demographic dynamics associated with the Bantu dispersal

Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in South African coloureds and Afrikaners

No Abstract

Phylogeny of Theileria buffeli genotypes identified in the South African buffalo (Syncerus caffer) population

Theileria buffeli/orientalis is a group of benign and mildly pathogenic species of cattle andbuffalo in various parts of the world. In a previous study, we identified T. buffeli in blood sam-ples originating from the African buffalo (Syncerus caffer) in the Hluhluwe–iMfolozi GamePark (HIP) and the Addo Elephant Game Park (AEGP) in South Africa. The aim of this studywas to characterise the 18S rRNA gene and complete internal transcribed spacer (ITS1-5.8S-ITS2) region of T. buffeli samples, and to establish the phylogenetic position of this speciesbased on these loci. The 18S rRNA gene and the complete ITS region were amplified fromDNA extracted from blood samples originating from buffalo in HIP and AEGP. The PCR prod-ucts were cloned and the resulting recombinants sequenced. We identified novel T. buffeli-like 18S rRNA and ITS genotypes from buffalo in the AEGP, and novel Theileria sinensis-like18S rRNA genotypes from buffalo in the HIP. Phylogenetic analyses indicated that the T.buffeli-like sequences were similar to T. buffeli sequences from cattle and buffalo in Chinaand India, and the T. sinensis-like sequences were similar to T. sinensis 18S rRNA sequencesof cattle and yak in China. There was extensive sequence variation between the novel T.buffeli genotypes of the African buffalo and previously described T. buffeli and T. sinensisgenotypes. The presence of organisms with T. buffeli-like and T. sinensis-like genotypes inthe African buffalo could be of significant importance, particularly to the cattle industry inSouth Africa as these animals might act as sources of infections to naïve cattle. This is thefirst report on the characterisation of the full-length 18S rRNA gene and ITS region of T.buffeli and T. sinensis genotypes in South Africa. Our study provides invaluable informationtowards the classification of this complex group of benign and mildly pathogenic species.South African National Research Foundation (NRFICD2006072000009) and UP Research Development Programme.http://www.elsevier.com/locate/vetparhb201

Elucidating the Antimycobacterial Mechanism of Action of Decoquinate Derivative RMB041 Using Metabolomics

Tuberculosis (TB), caused by Mycobacterium tuberculosis (Mtb), still remains one of the leading causes of death from a single infectious agent worldwide. The high prevalence of this disease is mostly ascribed to the rapid development of drug resistance to the current anti-TB drugs, exacerbated by lack of patient adherence due to drug toxicity. The aforementioned highlights the urgent need for new anti-TB compounds with different antimycobacterial mechanisms of action to those currently being used. An N-alkyl quinolone; decoquinate derivative RMB041, has recently shown promising antimicrobial activity against Mtb, while also exhibiting low cytotoxicity and excellent pharmacokinetic characteristics. Its exact mechanism of action, however, is still unknown. Considering this, we used GCxGC-TOFMS and well described metabolomic approaches to analyze and compare the metabolic alterations of Mtb treated with decoquinate derivative RMB041 by comparison to non-treated Mtb controls. The most significantly altered pathways in Mtb treated with this drug include fatty acid metabolism, amino acid metabolism, glycerol metabolism, and the urea cycle. These changes support previous findings suggesting this drug acts primarily on the cell wall and secondarily on the DNA metabolism of Mtb. Additionally, we identified metabolic changes suggesting inhibition of protein synthesis and a state of dormancy

The fourth E of performance auditing

The vital requisite for performance auditing within the public sector is becoming progressively apparent. This is deemed an essential requirement towards enhancing the operation and functioning of the organisation and facilitating and ensuring accountability. Traditionally, performance auditing focused on economy, effectiveness and efficiency, termed as the ‘three Es’. Recent contentions have advocated that a fourth ‘E’ should be incorporated to expand the scope of performance auditing and to intensify its impact. The supreme audit institutions (SAIs) of a multitude of countries, in association with their public sector internal audit activities, have consolidated additional principles into their performance audit methodology. A literature review revealed that the most frequently incorporated additional principles constituted the environment, equity and ethics. However, it may be contended that an expansion is unnecessary or superfluous considering the principal intent, objective and outcome of performance auditing. This study intends to investigate the issue of whether the foundational principles of performance auditing is adequate or should they be expanded. In an endeavour to determine this, a survey was conducted utilising the expertise of a community of performance audit experts in South Africa. The investigation results revealed that 61.5% of the respondents consider the current principles satisfactory and adequate to address and include the required aspects of the performance audit. However, 46.2% of the surveyed participants deemed the environmental element an eligible element for inclusion as a foundational principle. Ultimately, despite certain SAIs and internal audit activities expanding their performance audit foundational principles, the results of this study revealed that the primary focus should remain on the traditional ‘three Es’, viz. economy, efficiency and effectiveness.http://www.journals.co.za/content/journal/sajaaram2018Auditin

Sequence variation identified in the 18S rRNA gene of Theileria mutans and Theileria velifera from the African buffalo (Syncerus caffer)

The African buffalo (Syncerus caffer) is a natural reservoir host for both pathogenic and nonpathogenic Theileria species. These often occur naturally as mixed infections in buffalo. Although the benign and mildly pathogenic forms do not have any significant economic importance, their presence could complicate the interpretation of diagnostic test results aimed at the specific diagnosis of the pathogenic T. parva in cattle and buffalo in South Africa. The 18S rRNA gene has been used as the target in a quantitative real-time PCR (qPCR) assay for the detection of T. parva infections. However, the extent of sequence variation within this gene in the non-pathogenic Theileria spp. of the Africa buffalo is not well known. The aim of this study was, therefore, to characterize the full-length 18S rRNA genes of T. mutans, Theileria sp. (strain MSD) and T. velifera and to determine the possible influence of any sequence variation on the specific detection of T. parva using the 18S rRNA qPCR. The reverse line blot (RLB) hybridization assay was used to select samples which either tested positive for several different Theileria spp., or which hybridized only with the Babesia/Theileria genus-specific probe and not with any of the Babesia or Theileria speciesspecific probes. The full-length 18S rRNA genes from 14 samples, originating from 13 buffalo and one bovine from different localities in South Africa, were amplified, cloned and the resulting recombinants sequenced. Variations in the 18S rRNA gene sequences were identified in T. mutans, Theileria sp. (strain MSD) and T. velifera, with the greatest diversity observed amongst the T. mutans variants. This variation possibly explained why the RLB hybridization assay failed to detect T. mutans and T. velifera in some of the analysed samples.South African National Research Foundation (NRF ICD2006072000009) and UP Research Development Programme.http://www.elsevier.com/locate/vetparhb2013ab201

Static and Moving Frontiers: The Genetic Landscape of Southern African Bantu-Speaking Populations

A consensus on Bantu-speaking populations being genetically similar has emerged in the last few years, but the demographic scenarios associated with their dispersal are still amatter of debate. The frontier model proposed by archeologists postulates different degrees of interaction among incoming agropastoralist and resident foraging groups in the presence of "static" and "moving" frontiers. By combining mitochondrial DNA and Y chromosome data collected from several southern African populations, we show that Bantu-speaking populations from regions characterized by amoving frontier developing after a long-term static frontier have larger hunter-gatherer contributions than groups from areas where a static frontier was not followed by further spatial expansion. Differences in the female and male components suggest that the process of assimilation of the long-term resident groups into agropastoralist societies was gender biased. Our results show that the diffusion of Bantu languages and culture in Southern Africa was a process more complex than previously described and suggest that the admixture dynamics between farmers and foragers played an important role in shaping the current patterns of genetic diversity

Babesia bicornis, Theileria bicornis and Theileria equi in metapopulations of two black rhinoceros (Diceros bicornis) subspecies in South Africa and their potential impact on conservation

The two black rhinoceros subspecies (Diceros bicornis bicornis and D. b. minor) in South African conservation areas are managed as separate metapopulations. Since infection with Babesia bicornis can be fatal in black rhinoceroses, occurrence of this and other piroplasms in the two metapopulations was determined to assess possible risk. Blood specimens were collected from 156 black rhinoceroses: 80 from D. b. bicornis and 76 from D. b. minor. DNA was extracted; the V4 hypervariable region of the parasite 18S rRNA gene was amplified and subjected to the Reverse Line Blot (RLB) hybridization assay. There was a significant difference in occurrence of piroplasms: 18/80 (23%) in D. b. bicornis and 39/76 (51%) in D. b. minor. Theileria bicornis occurred in significantly more of the D. b. minor population (36/76; 47%) than the D. b. bicornis population (1/80; 1%); with B. bicornis the difference was not significant: D. b. bicornis 5/80 (6%) and D. b. minor 9/76 (11%). Three individuals were infected with Theileria equi. Results were confirmed using molecular characterization of the near full-length parasite 18S rRNA gene of 13 selected specimens. We identified four (Tb1, Tb2, Tb3 and Tb4) 18S rDNA sequence types for T. bicornis, two for B. bicornis (Bb1 and Bb2) and one for T. equi (Teq1). We furthermore identified T. bicornis haplotypes H1, H3 and H4 in 10 rhinoceroses; H3 was the most common haplotype identified. Rhinoceroses inhabiting more arid areas are apparently free of T. bicornis and B. bicornis, probably due to the absence or scarcity of vectors. When individuals are relocated for metapopulation management purposes, appropriate prophylactic action should be taken to minimise the risk of babesiosis, which could be fatal.South African National Research Foundation grant and a SANBI Foundational Biodiversity Information Programme grant.https://www.elsevier.com/locate/ttbdishj2022Centre for Veterinary Wildlife StudiesVeterinary Tropical Disease