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• Bambara groundnut productivity in South Africa is low (0.62 t/ha) compared to the attainable yield of the crop reaching up to 3 t/ha. • The low productivity is attributable to a lack of improved and high yielding cultivars that are locally bred and adapted in the country. • This paper presents baseline information on Bambara groundnut genetic profile of South African collections for effective breeding and conservation. • The magnitude of the genetic diversity and population structure of Bambara groundnut collections of South Africa using high throughput single nucleotide polymorphisms (SNP) markers are highlighted to guide current and future Bambara groundnut research and development by selection genetically unique genotypes for breeding. Bambara groundnut (Vigna subterranea [L.] Verdc) is a highly nutritious grain legume with a significant potential to develop various commercial food and feed products. It is a resilient crop able to grow under harsh climates and poor soil conditions. Bambara groundnut productivity in South Africa is low (0.62 t/ha) compared to the attainable yield of the crop reaching up to 3 t/ha. The low productivity is attributable to a lack of improved and high yielding cultivars that are locally bred and adapted in the country. Genetically diverse and locally adapted Bambara groundnut landrace varieties and exotic collections are present in South Africa for strategic breeding to improve yield and yield-related traits and nutritional quality. The objective of this study was to determine the magnitude of the genetic diversity and population structure of Bambara groundnut collections of South Africa using high throughput single nucleotide polymorphisms (SNP) markers. Ninety-three genotypes were assessed using genotyping with 2286 SNP markers and some unique complementary morpho-agronomic traits of the crop. The mean genetic diversity value was 0.32, revealing moderate genetic differences among the assessed genotypes. Cluster and structure analyses grouped the test genotypes into two distinct categories. Further, the analysis of molecular variance partitioned the total genetic variation into among genotypes (90%), within genotypes (8%) and among populations (2%). The results revealed two heterotic groups for hybridization and selection programs. The following unique genotypes were selected: ARC Bamb 37 (with spreading growth type), ARC Bamb 49 (bunch type), ARC Bamb 61 (semi-bunch) and ARC Bamb 83 (spreading) using the SNP markers and desirable agronomic traits. The study provided new insight on Bambara groundnut genetic profiles of South African collections which will assist in conservation strategy and management of the crop for effective breeding. [ABSTRACT FROM AUTHOR]

Gastrointestinal parasitism, particularly nematode infection, is a major health issue affecting goats worldwide, resulting in clinical diseases and productivity loss. Prevalent gastrointestinal parasites (GIPs) affecting goats in South Africa are the Strongyloides papillosus, Eimeria spp., and Strongyles, especially the Haemonchus contortus and Trichostrongylus spp. According to the issues discussed in this paper and by other authors, the prevalence and intensity of various GIPs vary with an animal's location, breed, age, sex, and season. Because GIPs easily develop resistance to chemical treatment, selecting and breeding genetically GIP-resistant animals would be a relatively simple and inexpensive strategy for reducing or eliminating the current reliance on chemotherapy. Potential phenotypic indicators for selecting GIP-resistant goats include parasitological, immunological, and pathological phenotypic markers. Synergistic use of these indicators should be encouraged for a more accurate simplified genotype selection of resistant animals. Genes with Mendelian inheritance, particularly those involved in immunoregulatory mechanisms, have been identified in goats. Exploring this knowledge base to develop cost-effective molecular tools that facilitate enhanced genetic improvement programs is a current challenge. Future statistical and biological models should investigate genetic variations within genomic regions and different candidate genes involved in immunoregulatory mechanisms, as well as the identification of single nucleotide polymorphisms known to affect GIP infection levels. [ABSTRACT FROM AUTHOR]

The South African beef cattle population is heterogeneous and consists of a variety of breeds, production systems and breeding goals. Indigenous cattle breeds are uniquely adapted to their native surroundings, necessitating conservation of these breeds as usable genetic resources to sustain efficient production of beef. Current projections indicate positive growth in human population size, with parallel growth in nutritional demand, in the midst of intensifying environmental conditions. Sanga cattle, therefore, are invaluable assets to the South African beef industry. Modern genomic methodologies allow for an extensive insight into the genome architecture of local breeds. The evolution of these methodologies has also provided opportunities to incorporate deoxyribonucleic acid (DNA) information into breed improvement programs in the form of genomic selection (GS). Certain challenges, such as the high cost of generating adequate numbers of dense genotypic profiles and the introduction of ascertainment bias when non-commercial breeds are genotyped with commercial single nucleotide polymorphism (SNP) panels, have caused a lag in progress on the genomics front in South Africa. Genotype imputation is a statistical method that infers unavailable or missing genotypic data based on shared haplotypes within a population using a population or breed representative reference sample. Genotypes are generated in silico, providing an animal with genotypic information for SNP markers that were not genotyped, based on predictive model-based algorithms. The validation of this method for indigenous breeds will enable the development of cost-effective low-density bead chips, allowing more animals to be genotyped, and imputation to high-density information. The improvement in SNP densities, at lower cost, will allow enhanced power in genome-wide association studies (GWAS) and genomic estimated breeding value (GEBV)-based selection for these breeds. To fully reap the benefits of this methodology, however, will require the setting up of accurate and reliable frameworks that are optimized for its application in Sanga breeds. This review paper aims, first, to identify the challenges that have been impeding genomic applications for Sanga cattle and second, to outline the advantages that a method such as genotype imputation might provide. [ABSTRACT FROM AUTHOR]

Seagrass habitats are declining worldwide, placing several seagrass‐associated animals at risk of extinction. The Critically Endangered limpet Siphonaria compressa is one of the rarest molluscs in Africa, and has been reported from only two disjunctive lagoons in South Africa. Being a highly specialized grazer that lives exclusively on the narrow blades of Cape eelgrass, Zostera capensis, which is itself listed as Endangered in the South African Red List and has decreased in abundance, conservation initiatives are urgently needed to ensure the long‐term survival of S. compressa.Molecular data (sequence data from the mitochondrial genome and single nucleotide polymorphism data of the nuclear genome) and morphological data were analysed to determine whether the two populations are conspecific, with implications for whether translocation between localities could be a viable management strategy to restore either population in the event of a collapse, or to maintain the genetic diversity of each population.Strong evidence emerged for the distinctness of the two populations, including a lack of shared mtDNA haplotypes that indicate an absence of contemporary gene flow, a divergence time that dates to the late Pleistocene, and a number of morphological characters that distinguish their shells. These findings indicate that the two populations are distinct cryptic subspecies.As the two populations occur in different temperature‐defined marine biogeographical regions, they are probably adapted to different thermal environments. Translocations are not recommended, as this management strategy has considerable potential to result in outbreeding depression and exacerbate the extinction risk. Instead, each population should be managed separately, and several alternative conservation measures are discussed, including the protection and restoration of seagrass beds. [ABSTRACT FROM AUTHOR]

MicroRNAs (miRNAs) are single-stranded non-coding RNA sequences with about 22 nucleotides that regulate gene expression posttranscriptionally. miRNAs play a crucial role as gene regulators; nevertheless, they also have an influence on the etiology of many disorders, including cancer. Both population-based and functional studies have investigated the function of miRNAs in the onset and progression of cancer. However, research on the impact of miRNA polymorphisms on human cancer susceptibility to initiation, development, and prognosis is still growing. The pri-miR-26a-1 may have an impact on miR-26, which has been hypothesized to have a tumor-suppressive function in the genesis of cancer. Early study has shown cancer risk associated with the pri-miR-26a-1 rs7372209 C >T polymorphism in molecular epidemiology research. The data regarding the impact of pri-miR-26a-1 rs7372209 C >T polymorphism on cancer risk among the Saudi population lacks. The present study sought to determine the allelic frequency and distribution of the pri-miR-26a-1 rs7372209 C >T polymorphism in the Saudi Arabian population and to compare it to populations from other parts of the world. Data from epidemiological studies conducted in various ethnic groups were extracted using PUBMED (Medline) and other similar web databases. An estimated 12.25 percent of the Saudi population harbors the pri-miR-26a-1 rs7372209 variant allele (T). When the Saudi prevalence is compared to that of other populations, it is observed that China, the USA, and South Africa (black ancestry) have significantly different frequencies (p<.0001). Only one South African report with participants of mixed ancestry from the Western Cape and a population with significant ancestral components from the indigenous Khoisan, Bantuspeaking Africans, Europeans, and Asians revealed comparable pri-miR-26a-1 rs7372209 frequency (p=0.34). Clearly, the pri-miR-26a-1 rs7372209 polymorphism variant allele has a very unique pattern in the Saudi Arabian population, which may be a result of racial differences. The findings could assist in the risk assessment of people carrying pri-miR-26a-1 rs7372209 TT mutant predisposed to develop different types of cancers in the Saudi population. [ABSTRACT FROM AUTHOR]

Native to North America, largemouth bass Micropterus salmoides (Lacepède, 1802) were introduced in South Africa in 1928. Florida bass Micropterus floridanus (Lesueur, 1822) were introduced to enhance existing largemouth bass fisheries in 1980. While largemouth bass and Florida bass readily hybridise and produce offspring that are difficult to identify morphologically, confirmation of hybridisation requires genetic analysis. This study sought to understand: (1) the extent to which Florida bass spread within a catchment once introduced; and (2) whether a subset of samples taken from within a catchment accurately characterises hybridisation throughout the catchment. Samples were collected from the Breede River and Kowie River catchments and screened using 38 species-diagnostic single nucleotide polymorphisms to assess hybridisation. Collections from the mainstem of both rivers represented hybrid swarms, and neither pure largemouth bass nor Florida bass were observed. The absence of genetic differentiation among sampling sites suggests that hybridisation will occur throughout systems where both species are present. Hybridisation levels in dams located off the mainstem rivers were significantly variable and represented potential sources for Florida bass alleles observed within rivers. This finding, in conjunction with our limited knowledge of the distributions of the two species, suggests that applying independent management strategies to control and monitor the spread of both species may prove difficult. [ABSTRACT FROM AUTHOR]

In the last 300 thousand years, the genus Chlorocebus expanded from equatorial Africa into the southernmost latitudes of the continent, where colder climate was a probable driver of natural selection. We investigated population-level genetic variation in the mitochondrial uncoupling protein 1 (UCP1) gene region—implicated in non-shivering thermogenesis (NST)—in 73 wild savannah monkeys from three taxa representing this southern expansion (Chlorocebus pygerythrus hilgerti, Chlorocebus cynosuros and Chlorocebus pygerythrus pygerythrus) ranging from Kenya to South Africa. We found 17 single nucleotide polymorphisms with extended haplotype homozygosity consistent with positive selective sweeps, 10 of which show no significant linkage disequilibrium with each other. Phylogenetic generalized least-squares modelling with ecological covariates suggest that most derived allele frequencies are significantly associated with solar irradiance and winter precipitation, rather than overall low temperatures. This selection and association with irradiance is demonstrated by a relatively isolated population in the southern coastal belt of South Africa. We suggest that sunbathing behaviours common to savannah monkeys, in combination with the strength of solar irradiance, may mediate adaptations to thermal stress via NST among savannah monkeys. The variants we discovered all lie in non-coding regions, some with previously documented regulatory functions, calling for further validation and research. [ABSTRACT FROM AUTHOR]

Summary: From its origins in Australia, Eucalyptus grandis has spread to every continent, except Antarctica, as a wood crop. It has been cultivated and bred for over 100 yr in places such as South Africa. Unlike most annual crops and fruit trees, domestication of E. grandis is still in its infancy, representing a unique opportunity to interrogate the genomic consequences of artificial selection early in the domestication process.To determine how a century of artificial selection has changed the genome of E. grandis, we generated single nucleotide polymorphism genotypes for 1080 individuals from three advanced South African breeding programmes using the EUChip60K chip, and investigated population structure and genome‐wide differentiation patterns relative to wild progenitors.Breeding and wild populations appeared genetically distinct. We found genomic evidence of evolutionary processes known to have occurred in other plant domesticates, including interspecific introgression and intraspecific infusion from wild material. Furthermore, we found genomic regions with increased linkage disequilibrium and genetic differentiation, putatively representing early soft sweeps of selection.This is, to our knowledge, the first study of genomic signatures of domestication in a timber species looking beyond the first few generations of cultivation. Our findings highlight the importance of intra‐ and interspecific hybridization during early domestication. [ABSTRACT FROM AUTHOR]

Objective: This study describes the single nucleotide polymorphisms (SNPs) in amlodipine-associated genes and assesses their correlation with blood pressure control among South African adults with hypertension. Methods: In total, 304 hypertensive patients on amlodipine treatment belonging to the indigenous Swati, Xhosa and Zulu population groups of South Africa were recruited between June 2017 and June 2019. Participants were categorized into: controlled (blood pressure < 140/90 mmHg) and uncontrolled (blood pressure ≥ 140/90 mmHg) hypertension. Thirteen SNPs in amlodipine pharmacogenes with a high PharmGKB evidence base were selected and genotyped using MassArray (Agena BioscienceTM). Logistic regression was fitted to identify significant associations between the SNPs and blood pressure control with amlodipine. Results: The majority of the participants were females (76.6%), older than 45 years (89.1%) and had uncontrolled hypertension (52.3%). Of the 13 SNPs genotyped, five SNPs, rs1042713 (minor allele frequency = 45.9%), rs10494366 (minor allele frequency = 35.3%), rs2239050 (minor allele frequency = 28.7%), rs2246709 (minor allele frequency = 51.6%) and rs4291 (minor allele frequency = 34.4%), were detected among the Xhosa participants, while none were detected among the Swati and Zulu tribal groups. Variants rs1042713 and rs10494366 demonstrated an expression frequency of 97.5% and 79.5%, respectively. Variant TA genotype of rs4291 was significantly associated with uncontrolled hypertension. No association was established between blood pressure response to amlodipine and the remaining four SNPs. Conclusions: This study reports the discovery of five SNPs in amlodipine genes (rs2239050, rs2246709, rs4291, rs1042713 and rs10494366) among the indigenous Xhosa-speaking tribe of South Africa. In addition, the TA genotype of rs4291 was associated with blood pressure control in this cohort. These findings might open doors for more pharmacogenomic studies, which could inform innovations to personalised anti-hypertensive treatment in the ethnically diverse population of South Africa. [ABSTRACT FROM AUTHOR]

Local cattle and sheep populations are important for animal production and food security in South Africa. These genetic resources are well adapted to the diverse climatic conditions and hold potential to be utilized in production systems subjected to climate change. The local beef breeds are well integrated into commercial livestock production systems with access to performance recording and genetic evaluations, while local sheep breeds are mainly utilised in smallholder and communal systems. The GeneSeek® Genomic Profiler™ Bovine 150 K SNP genotyping array was used to evaluate the diversity and inbreeding status of four indigenous (Boran, Drakensberger, Nguni, Tuli), two composite (Bonsmara and Beefmaster) and two exotic (SA Hereford and Charolais) beef breeds. The Illumina® Ovine 50 K SNP BeadChip was used to investigate five indigenous (Black Head Persian, Damara, Fat tail, Namaqua Afrikaner, Pedi) and three commercial (Dorper, Dohne Merino and SA Merino) populations. Although ascertainment bias was indicated by the low MAF (the autosome-wide proportion of SNPs with MAF< 0.05 ranged from 6.18 to 9.97% for cattle, and 7.59–13.81% for sheep), moderate genomic diversity was observed (mean Ho ranged from 0.296 to 0.403 for cattle, and 0.327 to 0.367 for sheep). Slightly higher levels of ROH-based inbreeding were calculated for cattle (FROH range: 0.018–0.104), than for sheep populations (FROH range: 0.002–0.031). The abundance of short ROH fragments (mean proportion of <4 Mb fragments: 0.405 for cattle, and 0.794 for sheep) indicated ancient inbreeding in both species. The eight cattle populations were categorized into indicine, taurine or Sanga subspecies based on principal component, model-based clustering and phylogenetic analyses, with high levels of admixture observed within the Drakensberger, Nguni and Tuli breeds. Within the sheep populations, a clear distinction could be seen between the dual-purpose breeds, the meat breed and the indigenous breeds. Despite directional selection practiced in the cattle breeds, genomic diversity was moderate with low inbreeding. The non-commercialized, indigenous sheep populations are more vulnerable with small effective populations. These results emphasise the value of genomic information for effective management to exploit the potential contribution of local genetic cattle and sheep resources in a changing environment. [ABSTRACT FROM AUTHOR]

Apis mellifera scutellata and Apis mellifera capensis, two native subspecies of western honey bees in the Republic of South Africa (RSA), are important to beekeepers in their native region because beekeepers use these bees for honey production and pollination purposes. Additionally, both bees are important invasive pests outside of their native ranges. Recently, whole mitogenome sequencing and single nucleotide polymorphisms were used to study their genetic diversity. To add to our knowledge of the molecular ecology of both bees, we tested the ability of microsatellites to be used as a tool to discriminate between A.m. capensis and A.m. scutellata. We analyzed the genetic variability and overall population structure of both bee subspecies and hybrids of the two by genotyping individuals collected from RSA (N = 813 bees from 75 apiaries) at 19 microsatellite DNA loci. Overall, populations averaged between 9.2 and 11.3 alleles per locus, with unbiased heterozygosity values ranging from 0.81 to 0.86 per population. Bayesian clustering analyses revealed two distinct evolutionary units, though the results did not match those of earlier morphometric and molecular analyses. This suggests that the microsatellites we tested were not sufficient for subspecies identification purposes, especially for Cape and hybrid bees. Nevertheless, the microsatellite data highlight the considerable genetic diversity within both populations and a larger-than-expected hybridization zone between the natural distributions of A.m. capensis and A.m. scutellata. [ABSTRACT FROM AUTHOR]

Conventional forensic DNA analysis involves a matching principle, which compares DNA profiles from evidential samples to those from reference samples of known origin. In casework, however, the accessibility to a reference sample is not guaranteed which limits the use of DNA as an investigative tool. This has led to the development of phenotype prediction, which uses SNP analysis to estimate the physical appearance of the sample donor. Physical traits, such as eye, hair and skin colour, have been associated with certain alleles within specific genes involved in the melanogenesis pathways. These genetic markers are also associated with ancestry and their trait prediction ability has mainly been assessed in European and North American populations. This has prompted research investigating the discriminatory power of these markers in other populations, especially those exhibiting admixture. South Africa is well known for its diversity, and the viability of these particular SNPs still needs to be assessed within this population. South African law currently restricts the use of DNA for molecular phenotyping, and there are also numerous ethical and social considerations, all of which are discussed. [ABSTRACT FROM AUTHOR]

Background: Workers in clinical microbiology laboratories are exposed to a variety of pathogenic microorganisms. Salmonella species is among the most commonly reported bacterial causes of laboratory-acquired infections. We report on three cases of laboratory-acquired Salmonella enterica serotype Typhi (Salmonella Typhi) infection which occurred over the period 2012 to 2016 in South Africa.Methods: Laboratory investigation included phenotypic and genotypic characterization of isolates. Phenotypic analysis included standard microbiological identification techniques, serotyping and antimicrobial susceptibility testing. Genotypic analysis included the molecular subtyping methodologies of pulsed-field gel electrophoresis analysis, multilocus sequence typing and whole-genome sequencing (WGS); with WGS data analysis including phylogenetic analysis based upon comparison of single nucleotide polymorphism profiles of isolates.Results: All cases of laboratory-acquired infection were most likely the result of lapses in good laboratory practice and laboratory safety. The following critical issues were highlighted. There was misdiagnosis and misreporting of Salmonella Typhi as nontyphoidal Salmonella by a diagnostic laboratory, with associated public health implications. We highlight issues concerning the importance of accurate fluoroquinolone susceptibility testing and interpretation of results according to updated guidelines. We describe potential shortcomings of a single disk susceptibility screening test for fluoroquinolone susceptibility and suggest that confirmatory minimum inhibitory concentration testing should always be performed in cases of invasive Salmonella infections. These antimicrobial susceptibility testing issues resulted in inappropriate ciprofloxacin therapy which may have been responsible for failure in clearance of pathogen from patients. Salmonella Typhi capsular polysaccharide vaccine was not protective in one case, possibly secondarily to a faulty vaccine.Conclusions: Molecular subtyping of isolates proved effective to investigate the genetic relatedness of isolates. Molecular subtyping data interpreted together with epidemiological data allowed us to pinpoint the most likely sources for our cases of laboratory-acquired infection. [ABSTRACT FROM AUTHOR]

The availability of whole genome sequences in public databases permits genome-wide comparative studies of various bacterial species. Whole genome sequence-single nucleotide polymorphisms (WGS-SNP) analysis has been used in recent studies and allows the discrimination of various Brucella species and strains. In the present study, 13 Brucella spp. strains from cattle of various locations in provinces of South Africa were typed and discriminated. WGS-SNP analysis indicated a maximum pairwise distance ranging from 4 to 77 single nucleotide polymorphisms (SNPs) between the South African Brucella abortus virulent field strains. Moreover, it was shown that the South African B. abortus strains grouped closely to B. abortus strains from Mozambique and Zimbabwe, as well as other Eurasian countries, such as Portugal and India. WGS-SNP analysis of South African B. abortus strains demonstrated that the same genotype circulated in one farm (Farm 1), whereas another farm (Farm 2) in the same province had two different genotypes. This indicated that brucellosis in South Africa spreads within the herd on some farms, whereas the introduction of infected animals is the mode of transmission on other farms. Three B. abortus vaccine S19 strains isolated from tissue and aborted material were identical, even though they originated from different herds and regions of South Africa. This might be due to the incorrect vaccination of animals older than the recommended age of 4–8 months or might be a problem associated with vaccine production. [ABSTRACT FROM AUTHOR]

The complete genome of an endemic South African Cydia pomonella granulovirus isolate was sequenced and analyzed. Several missing or truncated open reading frames (ORFs) were identified, including a 24 bp deletion in the pe38 gene which is reported to be associated with type I resistance-breaking potential. Comparison of single nucleotide polymorphisms (SNPs) with five other fully sequenced CpGV isolates identified 67 unique events, 47 of which occurred within ORFs, leading to several amino acid changes. Further analysis of single nucleotide variations (SNVs) within CpGV-SA revealed that this isolate consists of mixed genotypes. Phylogenetic analysis using complete genome sequences placed CpGV-SA basal to M, I12 and E2 and distal to S and I07 but with no distinct classification into any of the previously defined CpGV genogroups. These results suggest that CpGV-SA is a novel and genetically distinct isolate with significant potential as a biopesticide for management of codling moth (CM), not only in South Africa, but potentially in other pome fruit producing countries, particularly where CM resistance to CpGV has been reported. [ABSTRACT FROM AUTHOR]