Enlarge / The cranium of an individual with mosaic Turner syndrome from an Iron Age site in Somerset, UK. (credit: K. Anastasiadou et al. 2024)

Turner syndrome is a genetic condition in which a (female) person has only one X chromosome instead of two. Scientists have used a new computational method for precisely measuring sex chromosomes to identify the first prehistoric person with this syndrome dating back some 2,500 years ago, according to a recent paper published in the journal Communications Biology. The team identified four other individuals with sex chromosomes outside the usual XX or XY designations: an early medieval individual with Jacobs syndrome (XYY) and three people from various periods with Klinefelter syndrome (XXY). They also identified an Iron Age infant with Down syndrome .

"It’s hard to see a full picture of how these individuals lived and interacted with their society, as they weren’t found with possessions or in unusual graves, but it can allow some insight into how perceptions of gender identity have evolved over time," said co-author Kakia Anastasiadou , a graduate student at the Francis Crick Institute.

Added co-author Rick Schulting, an archaeologist at the University of Oxford, “The results of this study open up exciting new possibilities for the study of sex in the past, moving beyond binary categories in a way that would be impossible without the advances being made in ancient DNA analysis."

Enlarge / Drawing of a trade expedition to Punt during the reign of Queen Hatshepsut. Note the presence of baboons on board the lower ship. (credit: Nastasic )

One of the most enduring mysteries within archaeology revolves around the identity of Punt, an otherworldly “land of plenty” revered by the ancient Egyptians. Punt had it all—fragrant myrrh and frankincense, precious electrum (a mixed alloy of gold and silver) and malachite, and coveted leopard skins, among other exotic luxury goods.

Despite being a trading partner for over a millennium, the ancient Egyptians never disclosed Punt’s exact whereabouts except for vague descriptions of voyages along what’s now the Red Sea. That could mean anywhere from southern Sudan to Somalia and even Yemen.

Now, according to a recent paper published in the journal eLife, Punt may have been the same as another legendary port city in modern-day Eritrea, known as Adulis by the Romans. The conclusion comes from a genetic analysis of a baboon that was mummified during ancient Egypt’s Late Period (around 800 and 500 BCE). The genetics indicate the animal originated close to where Adulis would be known to come into existence centuries later.

Enlarge (credit: Beth Zaiken)

An international team of scientists has published the results of their research into 23 woolly mammoth genomes in Current Biology . As of today, we have even more tantalizing insights into their evolution, including indications that, while the woolly mammoth was already predisposed to life in a cold environment, it continued to make further adaptations throughout its existence.

Years of research, as well as multiple woolly mammoth specimens, enabled the team to build a better picture of how this species adapted to the cold tundra it called home. Perhaps most significantly, they included a genome they had previously sequenced from a woolly mammoth that lived 700,000 years ago, around the time its species initially branched off from other types of mammoth. Ultimately, the team compared that to a remarkable 51 genomes—16 of which are new woolly mammoth genomes: the aforementioned genome from Chukochya, 22 woolly mammoth genomes from the Late Quaternary, one genome of an American mastodon (a relative of mammoths), and 28 genomes from extant Asian and African elephants.

From that dataset, they were able to find more than 3,000 genes specific to the woolly mammoth. And from there, they focused on genes where all the woolly mammoths carried sequences that altered the protein compared to the version found in their relatives. In other words, genes where changes appear to have been naturally selected.

Enlarge / An attempt to reconstruct what northern Greenland looked like about 2 million years ago. (credit: Beth Zaiken )

When once-living tissue is preserved in a cold, dry environment, fragments of its DNA can survive for hundreds of thousands of years. In fact, DNA doesn't even have to remain in tissue; we've managed to obtain DNA from the soil of previously inhabited environments. The DNA is damaged and broken into small fragments, but it's sufficient to allow DNA sequencing, telling us about the species that once lived there.

In an astonishing demonstration of how well this can work, researchers have obtained DNA from deposits that preserved in Greenland for roughly 2 million years. The deposits, however, date from a relatively warm period in Greenland's past and reveal the presence of an entire ecosystem that once inhabited the country's north coast.

A different Greenland

Over the last million years or so, the Earth's glacial cycles have had relatively short warm periods that don't reach temperatures sufficient to eliminate the major ice sheets in polar regions. But before this time, the cycles were shorter, the warm periods longer, and there were times the ice sheets underwent major retreats. Estimates are that, around this time, the minimum temperatures in northern Greenland were roughly 10° C higher than they are now.

Enlarge (credit: Karsten Möbius )

The Nobel Prize in Physiology or Medicine was awarded to a single recipient on Monday: Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology. Pääbo's work will be familiar to regular readers of these pages, as he was the driving force behind the completion of the Neanderthal and Denisovan genomes, and he has helped us understand how these lineages contributed to the genomes of modern humans. This has more to tell us about physiology and medicine than a casual glance might suggest.

Pääbo's central role in this story and his intense focus on this topic are likely to allow widespread acceptance of his sole-recipient status, despite the Nobels' long history of controversy over who gets acknowledged. But Pääbo also benefitted from being lucky enough to be in the right place at the right time, when a revolution in DNA sequencing technology provided the capabilities his ideas so sorely needed.

I briefly met Pääbo back in the 1990s when we were both working at Berkeley. He was already interested in old DNA and was working in one of the best labs for that sort of thing, run by the late Allan Wilson . PCR had been commercialized less than a decade earlier, and Wilson's lab was pushing the limits of the technique as a way of obtaining very old DNA that was a rare component of a sample that might have been in the environment for centuries or more—fragments of egg shells from the extinct moa birds made regular appearances in the lab at the time.

Enlarge / An Eastern Gray Wolf is a mix of Siberian ancestry and coyote DNA. (credit: Michael Cummings )

Man's best friend was the first of many animals humans have domesticated. But there was no clear before-and-after moment where dogs were suddenly a distinct population of wolves. While some ancient skeletons are clearly dogs, there are a lot of ambiguous skeletons earlier than that. It's possible to get a sense of what happened using the genomes of modern and ancient dogs. But this analysis depends heavily on what you think the wolf populations dogs were derived from look like.

Now, researchers have generated a much clearer picture of the last 100,000 years of wolf evolution. The picture it paints is a population that remained a single unit despite being spread across continents in the Arctic, with the population sporadically refreshed from a core centered in Siberia. Many breeds of dogs seem to have been derived from a population of East Asian wolves. But others seem to have also received significant input from a Middle East population—but it's unclear whether that population was wolves or dogs.

Wolves around the north

The ability to sequence ancient DNA was essential to this new work, which involved obtaining DNA from 66 wolf skeletons that collectively span about 100,000 years of evolution, including most of the last ice age. Wolves are found in the Northern Hemisphere, and the skeletons used here tend to be closer to the Arctic (probably in part because DNA survives better in cooler climes). But they are widely distributed, with Europe, Asia, and North America represented. The researchers also included five ancient wolf genomes that others had analyzed, along with some genomes of modern wolves.

Enlarge (credit: Spyrou et al. 2022)

In 1338 and 1339, people were dying in droves in the villages around Lake Issyk-Kul in what’s now northern Kyrgyzstan. Many of the tombstones from those years blame the deaths on a generic “pestilence.” According to a recent study of ancient bacterial DNA from the victims’ teeth, the pestilence that swept through the Kyrgyz villages was Yersinia pestis —the same pathogen that would cause the devastating Black Death in Europe just a few years later.

Ground zero for the Black Death?

In just five years, bubonic plague killed at least 75 million people in the Middle East, northern Africa, and Europe. Known as the Black Death, the cataclysm of 1346-1352 is still the most deadly pandemic in human history. But the Black Death was only the first devastating wave of what historians call the second plague pandemic: a centuries-long period in which waves of Y. pestis periodically burned through communities or whole regions. When English diarist Samuel Pepys wrote about the Great Plague of London in 1666, he was describing a later wave of the same pandemic that began in the mid-1300s with the Black Death. Centuries of life with the reality of the plague actually shaped the genetic diversity of modern European populations .

And like every pandemic, the second plague pandemic had to start somewhere.

Enlarge / Detail from an illustration of Genyornis (aka the "Demon Duck of Doom") not looking so tough as it is chased from its nest by a Megalania lizard in prehistoric Australia. (credit: Peter Trusler)

Over 65,000 years ago, large flightless birds dubbed "Demon Ducks of Doom" roamed prehistoric Australia. The creatures stood over six and a half feet (two meters) tall, weighed over 440 pounds (200 kgs), and sported massive beaks. They also produced giant cantaloupe-sized eggs that may have served as a food source for early human inhabitants, eventually contributing to the extinction of the demon ducks, according to a new paper published in the Proceedings of the National Academy of Sciences.

Technically known as Genyornis newtoni or mihirung paringmal ("thunder bird"), the species was first described in 1896 based on the discovery of a fossilized left femur excavated from a site at Lake Callabonna in South Australia. Further excavation yielded many more fragments of avian fossils and eventually mostly complete specimens, including the cranium. Similar specimens have since been found at other sites in New South Wales, Queensland, and Western Australia. The species went extinct within a few thousand years after humans arrived in the region.

There are two competing hypotheses for why Genyronis became extinct: climate change or the impact of the arrival of humans. For instance, there is some fossilized evidence that the Genyornis population at the Lake Callabonna site perished because the lake dried up due to climate change, depriving the birds of their water source. However, a 1999 study of more than 700 eggshell fragments concluded that the species' decline and extinction occurred too rapidly to be attributed to climate change, suggesting that human activity was to blame. Specifically, early humans in the region may have gathered and consumed Genyornis eggs faster than the creatures could lay them and reproduce.

Enlarge / This is not what a healthy lumbar vertebra is supposed to look like. (credit: Scorrano et al. 2022)

The eruption of Mount Vesuvius buried the Roman city of Pompeii in ash in 79 CE. Anthropologists recently sequenced ancient DNA from one of the victims, a man in his late 30s, providing a glimpse into the family background of a Roman citizen.

The results also suggest that he suffered from a tuberculosis infection in his lower spine. In one of the victim’s vertebrae, the study found DNA from the bacterium that causes tuberculosis, suggesting that the infection had traveled through the bloodstream from his lungs to his lower spine.

Pompeii man was Italian

A team led by anthropologist Gabriele Scorrano of the University of Rome sequenced the genome of the victim, which revealed, unsurprisingly, that man was of central Italian descent. Although the ancient man’s genome didn’t yield much new information about life in Pompeii, it proves that bones from Pompeii may still contain enough DNA to sequence—and that could be exciting news.