Ancient DNA reveals first known case of sex-development disorder

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Hello Nature readers, Today we find evidence that ancient people thrived with sex-chromosome disorders, explore a controversial proposal to save Caribbean reefs with coral transplants and ask what comes next after the hottest year on record.

The skull of a young woman who lived in Somerset, UK, shows signs of the effects of Turner syndrome, such as delayed skeletal growth relative to dental development. (Kyriaki Anastasiadou et al/Communications Biology)

Earliest signs of sex-development disorders The earliest known case of Turner syndrome has been found in the genome of an Iron-Age woman who lived in the British Isles roughly 2,500 years ago. Turner syndrome occurs in females and is characterized by having one complete copy of the X chromosome, instead of the usual two. The team also identified four ancient males with sex-chromosome disorders, including the earliest known person to have an extra Y chromosome, known as Jacob's syndrome. The man lived around 1,100 years ago, during the Early Medieval Period. There is no evidence that the people were treated differently from those without the syndromes, says co-author Kyriaki Anastasiadou, who studies ancient genomics. "It's quite interesting to think that these people existed throughout human history and how they seem to have been part of their societies." Nature | 4 min read Reference: Communications Biology paper

Could foreign coral save dying reefs? Scientists are considering a desperate attempt to use non-native coral to restore long-struggling reefs in the Caribbean that were devastated by last year's heatwave. It's a controversial proposal that comes after efforts to rescue reefs with native corals have failed. Certain Indo-Pacific coral species easily colonize reefs, and might be able to survive pollution, heat extremes and diseases. But they could also disturb the local ecology in unpredictable ways. "It's an 11th-hour solution," says coral geneticist Mikhail Matz, who presented the idea at a conference. "And it is now 11:45." Nature | 5 min read

Auomated lab makes improved proteins An artificial intelligence (AI) system that directs experiments in a remotely-operated robotic lab can engineer heat-tolerant enzymes without any human input. "We set and forget it," says protein engineer Philip Romero, who led work on the 'self-driving' lab. The system produced four enzymes that could operate at temperatures at least 12 ˚C warmer than the original versions. The entire process took six months, around half the time it would take a person to do the work. "We're replacing the boring parts, so that you can focus on the interesting bits," says study co-author Jacob Rapp. Nature | 4 min read Reference: Nature Chemical Engineering paper

Will 2024 break every heat record again? Many factors contributed to making 2023 the hottest year on record: greenhouse gases, unusually warm oceans, heat-trapping water vapour from a 2022 volcanic eruption in Tonga and cuts to toxic but Earth-shading pollutants. Researchers are still working to determine whether last year's extreme temperatures are attributable in part to natural variability or whether they are a sign that global warming is accelerating. With the 2024 forecast complicated by the ongoing El Niño weather pattern, researchers are bracing for more heatwaves, droughts, wildfires, flooding and extreme weather. "The future scenarios of climate change are already here," says climate scientist Tereza Cavazos. "We do not need to wait 15 or 20 years more to see the changes and impacts that were expected far into the future." Nature | 6 min read

Features & opinion

There are holes in Europe's AI act The European Commission said that its new AI Office, which will enforce Europe's upcoming AI regulations, will have "a strong link with the scientific community". Researchers need to seize this opportunity, argues a Nature editorial. "There are holes in the act that need to be filled before it enters into full force", in around two years' time. So far, there are no reviewable criteria for what constitutes low-risk applications of AI, which won't be submitted for regulation. And AI developers will, in many instances, be able to self-assess products deemed high-risk. Nature | 5 min read

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Policies might drive citation excesses Academics in 12 countries are increasingly citing their own scholarly papers, and policy incentives might be to blame. An analysis of 24 years of citation data from 50 countries revealed that, in most countries, the number of self-citations is going down. When researchers looked deeper into the places — including Colombia, Egypt and Indonesia — where self-citation is rising, they saw that all of them had policies that incentivize high citation counts. The list also includes Italy, the subject of a 2019 study from the same researchers that linked excessive self-citation with a policy that factored citation counts into promotion decisions. Nature Index | 5 min read Reference: PLoS ONE

How to navigate early-career crossroads At last summer's Lindau Nobel Laureate Meeting, four female researchers took a break from discussions to reflect on the crossroads of their careers. Child-development researcher Ifrah Abdullahi noted that young researchers often have to grapple with major life changes, such as having children, when they're on temporary contracts. For pharmaceutical scientist Piper Rawding, the culture surrounding science pushes some people beyond their limits. "We all have a passion for science, but at Lindau I found that many of us are struggling with our well-being and mental health," she says. "The atmosphere is cut-throat, the path to success is impossibly narrow and it is common to feel alone." Nature | 9 min read

'We knew it was an important discovery' "I looked very carefully and thought: this is it," says physicist Rosemary Brown — now 97 and known by her married name of Fowler — of the time she first spotted traces of 'tau'. The subatomic particle, first observed by Brown in 1948 when she was a 22-year-old PhD student, helped blow apart the idea that the laws of nature adhered to a fundamental symmetry. Today, few people remember Brown, who left physics without completing her PhD. Her contributions have often been attributed to her husband, or to Cecil Powell, who led the laboratory where they both worked and who won the Nobel Prize in Physics in 1950 for the discovery of the pion. But the three papers published 75 years ago (two in Nature) record her achievement: Brown is first author on them all. Nature | 9 min read Reference: Nature paper 1 & paper 2, The London, Edinburgh, and Dublin Philosophical Magazine and Journal of Science paper

Quote of the day "It's kind of like shooting a bunch of arrows at the wall and drawing the bullseye on after." Happiness research has struggled with reproducibility, in part because researchers could reanalyze their results until they found something worth publishing, says social psychologist Elizabeth Dunn. Dunn and co-author Dunigan Folk have analysed preregistered studies to find happiness strategies that stand up to scrutiny — such as being more sociable. (Knowable Magazine | 6 mins) Reference: Annual Review of Psychology paper

On Friday, Leif Penguinson was taking in the snowy scenery near the small mountain community of Winona in West Virginia. Did you find the penguin? When you're ready, here's the answer. In other important penguin news, a rare white gentoo penguin (Pygoscelis papua) has been caught on film. "Every day Antarctica and this beautiful place surprise us with something different," says Chilean army cook and photographer Hugo Alejandro Harris Guerra in a video filmed at the Gabriel Gonzáles Videla base. Thanks for reading, Flora Graham, senior editor, Nature Briefing With contributions by Katrina Krämer and Sarah Tomlin

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