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Research Team led by JCVI Scientists Uncover More Complexity and Detail in Southern African Genomic Diversity
Date:3/14/2013

ROCKVILLE, Md., March 14, 2013 /PRNewswire-USNewswire/ -- A team of international researchers led by scientists from the J. Craig Venter Institute (JCVI) has published a study detailing the degree of genomic diversity of several southern Africa populations. These populations are some of the oldest human lineages but are also some of the most diverse because of the influx of outside non-African populations. The team, led by JCVI's Vanessa Hayes , Ph.D., published their study in March 14 edition of the open access journal PloS Genetics.

Hayes and her team at JCVI have long been studying the Khoesan people in southern Africa, a group characterized by two subsets the Khoe and the San who are unique in their foraging nature and click-using language; the Southern Bantu, a broad term used to describe ancestral non-clicking languages spoken within the boarders of South Africa, Botswana and Mozambique; the self-identified "Coloured" population of South Africa, who emerged from European colonization and East Indian slave trade in the 1600's; and the Baster population of Namibia, a population although sharing an ancestral heritage with the Coloured self-identified as independent migrating into then southwest Africa in the 1800's.

For this research study the team looked at 103 individuals within the above described populations, all were extensively interviewed regarding their language, culture and personal histories. Using gender-specific analysis and one million genetic markers, the team was able to better understand the specific genetic lineages that have shaped these modern populations.

While all populations carried significant Khoesan contributions, the data defines independent prehistories. In this study, the Ju/'hoan represent a pure Khoesan lineage with no significant non-Khoesan contribution. The Ju'/hoan are arguably one of the last pure 'hunter-gatherer' populations in the world today. Unlike most global populations, the Ju'/hoan in this study not only lacked signatures of gene-based adaption to agriculture, they carry genetic contributions essential for forager survival. The !Xun however, although culturally, linguistically and genetically Khoesan, showed significant male-derived non-Khoesan African ancestral contribution, while the data suggests that contemporary !Xun speakers once represented two unique Khoesan prehistories.

Conversely, the amaXhosa Southern Bantu speakers all showed a comparable female-derived ancient Khoesan contribution. This is the first genome-wide analysis of the Baster people, who like their Coloured cousins carry a significant female-derived Khoesan contribution. However, this study provides a genetic basis for the Baster/Coloured distinction. The Khoesan, non-Khoesan African, European and Asian contributions to the Coloured and Baster populations, represent arguably the most diverse human genomic profiles within single population identifiers.

According to Dr. Hayes, "We believe that research like ours is important not only to better understand some of the oldest and most genetically diverse human populations on the planet, but can also lead to better understanding of the impact of admixture on the study of disease genes."

Researchers at the following organizations were part of this research study: the Scripps Translational Science Institute, The Scripps Research Institute, University of New South Wales Faculty of Medicine, The Garvan Institute of Medical Research, University of Stellenbosch Department of Pathology and Department of Surgical Sciences Urology Division, Institute of Genomics and Integrative Biology/Indian Genome Variation Consortium in India,  and the Department of Language and Literature Studies University of Namibia.

About JCVI

The JCVI is a not-for-profit research institute in Rockville, MD and San Diego, CA dedicated to the advancement of the science of genomics; the understanding of its implications for society; and communication of those results to the scientific community, the public, and policymakers. Founded by J. Craig Venter , Ph.D., the JCVI is home to approximately 300 scientists and staff with expertise in human and evolutionary biology, genetics, bioinformatics/informatics, information technology, high-throughput DNA sequencing, genomic and environmental policy research, and public education in science and science policy. The legacy organizations of the JCVI are: The Institute for Genomic Research (TIGR), The Center for the Advancement of Genomics (TCAG), the Institute for Biological Energy Alternatives (IBEA), the Joint Technology Center (JTC), and the J. Craig Venter Science Foundation. The JCVI is a 501 (c)(3) organization. For additional information, please visit http://www.JCVI.org.


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SOURCE J. Craig Venter Institute
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