-
Article
Publisher Correction: A weakly structured stem for human origins in Africa
-
Article
Open AccessPersistence of Matrilocal Postmarital Residence Across Multiple Generations in Southern Africa
Factors such as subsistence turnover, warfare, or interaction between different groups can be major sources of cultural change in human populations. Global demographic shifts such as the transition to agricult...
-
Article
The immunogenetics of tuberculosis (TB) susceptibility
Tuberculosis (TB), caused by Mycobacterium tuberculosis (Mtb), remains the leading cause of death due to a single bacterial agent, with approximately 10.6 million people develo** active disease and 1.6 million ...
-
Article
A weakly structured stem for human origins in Africa
Despite broad agreement that Homo sapiens originated in Africa, considerable uncertainty surrounds specific models of divergence and migration across the continent1. Progress is hampered by a shortage of fossil a...
-
Article
Open AccessAfrican wild dogs (Lycaon pictus) from the Kruger National Park, South Africa are currently not inbred but have low genomic diversity
African wild dogs (Lycaon pictus) have undergone severe population reductions and are listed as endangered on the International Union for Conservation of Nature Red List. Small, isolated populations have the pote...
-
Article
Open AccessThe recombination landscape of the Khoe-San likely represents the upper limits of recombination divergence in humans
Recombination maps are important resources for epidemiological and evolutionary analyses; however, there are currently no recombination maps representing any African population outside of those with West Afri...
-
Article
Open AccessPhenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a primary immunodeficiency (PID) characterised by a predisposition to infection by weakly-pathogenic mycobacteria. In countries with a high prevalenc...
-
Article
Open AccessHigh diversity, inbreeding and a dynamic Pleistocene demographic history revealed by African buffalo genomes
Genomes retain records of demographic changes and evolutionary forces that shape species and populations. Remnant populations of African buffalo (Syncerus caffer) in South Africa, with varied histories, provide a...
-
Article
Open AccessHuman whole genome sequencing in South Africa
The advent and evolution of next generation sequencing has considerably impacted genomic research. Until recently, South African researchers were unable to access affordable platforms capable of human whole ge...
-
Article
Prospective avenues for human population genomics and disease map** in southern Africa
Population substructure within human populations is globally evident and a well-known confounding factor in many genetic studies. In contrast, admixture map** exploits population stratification to detect gen...
-
Article
A regulatory variant in the C1Q gene cluster is associated with tuberculosis susceptibility and C1qA plasma levels in a South African population
Several genetic studies have implicated genes that encode for components of the innate immune response in tuberculosis (TB) susceptibility. The complement system is an early player in the innate immune respons...
-
Article
Open AccessIdentification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The synd...
-
Article
Open AccessPutting RFMix and ADMIXTURE to the test in a complex admixed population
Global and local ancestry inference in admixed human populations can be performed using computational tools implementing distinct algorithms. The development and resulting accuracy of these tools has been test...
-
Article
Primary immunodeficiency diseases in a tuberculosis endemic region: challenges and opportunities
While individual primary immunodeficiency diseases (PIDs) are rare, collectively they represent a significant burden of disease. Recent estimates show that about one million people in Africa suffer from a PID....
-
Article
Open AccessThe X chromosome and sex-specific effects in infectious disease susceptibility
The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This ...
-
Article
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient
-
Article
Population structure and infectious disease risk in southern Africa
The KhoeSan populations are the earliest known indigenous inhabitants of southern Africa. The relatively recent expansion of Bantu-speaking agropastoralists, as well as European colonial settlement along the s...
-
Article
Open AccessExome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair....
-
Article
Open AccessThe complete genome sequence of the African buffalo (Syncerus caffer)
The African buffalo (Syncerus caffer) is an important role player in the savannah ecosystem. It has become a species of relevance because of its role as a wildlife maintenance host for an array of infectious and ...
-
Article
Polymorphisms in the Pattern Recognition Receptor Mincle Gene (CLEC4E) and Association with Tuberculosis
The mechanisms involved in interactions between Mycobacterium tuberculosis and host innate immune cells determine outcome. Antigen-presenting cells, including macrophages and dendritic cells, express many pattern...
