Rare DNA Sequences Bring Early Human History to Light Genome Studies Unlock Clues to Our Ancient Family Tree and Migration Patterns in Africa

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Ethnic groups in Africa, including San communities in Botswana, are working with scientists to unravel early human history on the continent.

GENETICS Rare DNA sequences bring early human history to light Genome studies unlock clues to our ancient family tree and migration patterns in Africa.

BY AMY MAXMEN the size of other ethnic groups present at the Sarah Tishkoff, a human geneticist at the Uni- time, and that the San and Baka overlapped in versity of Pennsylvania in Philadelphia, who co- umanity’s early history in Africa is central-eastern or southern Africa. Research- led the project. Together with genetic analyses of coming into sharper focus with a ers presented these as-yet unpublished results ancient human remains from Africa published recentstudy of 180 genomes from a at an American Society of Human Genetics last year1,2, the latest data are starting to fill in Hdozen ethnic groups on the continent — some (ASHG) meeting in San Diego, California, in the nearly blank canvas of early human history. of which have never before been analysed. mid-October. Although Homo sapiens originated in Africa These preliminary results suggest that more This is the most comprehensive whole- roughly 250,000 to 315,000 years ago, geneticists than 40,000 years ago, two of the groups — the genome-sequencing study of groups that rep- have devoted their attention almost exclusively San and the Baka Pygmy — were roughly twice resent the ancestral diversity of humans, says to the small subset of Africans that migrated

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north to Europe tens of thousands of years African-led consortium that supports genom- geographically. Earlier studies have given lit- later. A handful of African genomics projects ics research — has called for a greater role for tle indication that people from these groups are now beginning to address this imbalance. Africa-based scientists in such projects. And last mixed with each other, says Deepti Gurdasani, In 2009, Tishkoff and her colleagues pub- year, an Indigenous group in South Africa intro- a genetic epidemiologist at the Wellcome lished a study3 assessing small sections of duced research-ethics guidelines for scientists Sanger Institute in Hinxton, UK. But it’s plau- the genome from people belonging to about looking to work with them. sible, she adds. “There is literally nothing in 100 of the more than 2,000 ethnic groups in Tishkoff and her colleagues make sure to fol- Africa that is not possible since we have no Africa today. The results suggested that the low up with the communities that participate in idea what humans were doing on the continent San and the Baka might have descended from their studies. For example, some of the Fulani, 5,000 years ago.” a single lineage of hunter-gatherers. a traditionally nomadic group, are interested in This knowledge gap might dissipate in But Tishkoff needed whole genomes from what their genetics can reveal about their migra- the coming years as more teams working on them and other ethnic groups to test this idea. tion history, says Alfred Njamnshi, a neurologist African genome projects publish their results. Her team spent years getting approvals for the at the University of Yaoundé in Cameroon. Gurdasani presented findings from an analysis project from govern- of whole genomes from 2,000 Ugandans at the ANCESTRAL LINKS ment and institu- “There is nothing ASHG meeting. And H3Africa has sequenced tional ethical review in Africa that Nearly one-fifth of the genetic variation that more than 400 genomes from African individu- boards in countries is not possible the team uncovered has never before been als, says Charles Rotimi, a Nigerian genetic epi- in eastern, southern reported. Statistical models of the data indi- demiologist at the National Human Genome and western Africa. since we have cate that the Hadza and the Sandawe people of Research Institute in Bethesda, Maryland, who Tishkoff and her col- no idea what Tanzania shared an ancestor in the past 30,000 founded the initiative. leagues partnered humans were years. The findings also suggest that there was After conducting further analyses, Tishkoff with local research- doing on the intermingling during that period between the plans to publish the results and share the ers and spoke about continent 5,000 Hadza, the San in southern Africa and the Baka anonymized genomes publicly, so that scien- genetics with the years ago.” in central Africa, all of whom were tradition- tists can pool their data. communities that ally hunter-gatherers. “I think we are seeing an This last bit is essential, says Shaohua Fan, they hoped to enrol in the project, explaining ancient common ancestry between the major a molecular biologist at Fudan University in what the scientists and the groups could learn hunter-gatherer groups in Africa,” Tishkoff says. Shanghai, China. As of 2016, about 80% of peo- about their early ancestry. Many of the com- Some of the findings align with signals ple in genetic studies were of European descent. munities live in remote regions — such as the of mixed Hadza and San ancestry in DNA “We know humans originate in Africa,” says Sabue people of southwestern Ethiopia — and extracted from human remains1 dated to Fan, “but we don’t know what we did before we geneticists know little about them. between 2,500 and 8,100 years old, says Pon- left — we don’t know our own history.” ■ Genomics research in Africa can be conten- tus Skoglund, a palaeogeneticist at the Francis tious, and many scientists engage in such out- Crick Institute in London. 1. Skoglund, P. et al. Cell 171, 59–71 (2017). 2. Schlebusch, C. M. et al. Science 358, 652–655 reach to involve the communities they work Other researchers want to see further statis- (2017). with in their research. The Human Heredity tical analyses of the data before they accept the 3. Tishkoff, S. A. et al. Science 324, 1035–1044 and Health in Africa (H3Africa) Initiative — an idea that the Hadza, San and Baka overlapped (2009).

PHYSICS Quantum projects get cash European Commission has announced the first-round winners of its new flagship.

BY DAVIDE CASTELVECCHI Most recently, in August, Germany’s federal considering a proposal to set aside more than government quietly announced a quantum ini- $1.2 billion for quantum computing, and China, lans to build two working quantum tiative worth €650 million. The US Congress is which has already made major investments in computers are among the first winners to be announced in a €1-billion P(US$1.1 billion) funding initiative of the Euro- QUANTUM WINDFALL pean Commission. On 29 October, the commis- Europe’s Quantum Flagship programme will spend €132 million (US$150 million) overall on 20 projects spanning 6 themes for its rst 3 years. sion announced the first batch of fund recipients of its Quantum Flagship. The 20 international Basic science consortia, including public research institutions and industry, will receive a total of €132 million Sensing and metrology over 3 years for technology-demonstration pro- Computing FLAGSHIP SOURCE: QUANTUM jects (see ‘Quantum windfall’). Communication The efforts add to a global rush to turn Simulation Proposed early-stage laboratory experiments into appli- Selected cations such as practical quantum computers, Coordination and support which promise to improve certain tasks — for 0 20 40 60 80 100 example, predicting chemical reactions expo- Number of proposals nentially faster than classical computers do.