https://www.abc.net.au/news/science/2024-07-12/woolly-mammoth-chromosomes-resconstructed-from-skin/104059130 Skip to main content ABC News Homepage Search Loading More from ABC More from ABC Close menuABC * ABC Home * News * Local * listen * iview * Everyday * More Editorial Policies Read our editorial guiding principles * Accessibility * Help * Contact Us * About the ABC * Privacy Policy * Terms of Use * (c) 2024 ABC * * * * * Just In * Watch Live * Politics * World * Business * Analysis * Sport * Science * Health * Entertainment * Lifestyle * Fact Check * Other News HomeABC News Homepage Science 52,000-year-old woolly mammoth chromosomes reconstructed from 'jerky-like' skin Share Science 52,000-year-old woolly mammoth chromosomes reconstructed from 'jerky-like' skin ABC Science / By science reporter Jacinta Bowler Posted Yesterday at 6:38pmThu 11 Jul 2024 at 6:38pm Two men looking at a furry piece of skin. It doesn't look 52,000 years old. A mammoth skin buried for 52,000 years has been "freeze-dried" by the conditions. (Supplied: Love Dalen, Stockholm University) abc.net.au/news/woolly-mammoth-chromosomes-resconstructed-from-skin/ 104059130 Link copied ShareShare article In short: In 2018, a 52,000-year-old woolly mammoth was found preserved, complete with skin and muscle, in the Siberian permafrost. Scientists used a new technique, called Hi-C, to analyse the 3D structures of the mammoth genome for the first time. What's next? The research team hopes Hi-C can be used to study other extinct species, although the right set of conditions is needed to preserve DNA in ancient samples. For the first time, researchers have uncovered and analysed the 3D structures of a woolly mammoth genome. The 52,000-year-old specimen was so well preserved that hair follicles and the shape of the muscles were still intact, with one scientist likening the location of the find to dying "in the deep freezer". While older mammoth DNA has been previously sequenced, these were the first 3D structures, called chromosomes, assembled for any ancient DNA sample. Chromosomes -- packages of tightly wound DNA -- are where creatures like mammoths and humans store and duplicate genetic information within cells. Analysis of the woolly mammoth (Mammuthus primigenius) genome, published today in the journal Cell by an international team of scientists, revealed the species had 28 chromosomes -- the same number as both the Asian and African elephants. But there were key differences between the ancient and modern animals. One of the researchers, biotechnologist Parwinder Kaur of University of Western Australia, said the mammoth DNA was an "incredible" discovery. "It's like an insect in amber, but the insect is a mammoth," Dr Kaur said. What did the team find? A scalpel removes a chuck of skin from a mammoth. The sample looks almost cooked or dried A sample of the mammoth skin.(Supplied: Love Dalen, Stockholm University) The researchers didn't uncover perfectly preserved 52,000-year-old mammoth DNA by accident. The team, led by Erez Lieberman Aiden of Baylor College of Medicine in the US, wanted to know if DNA structures could survive after tens of thousands of years. They had been playing with a technique called Hi-C, which creates a 3D structure of a genome -- including the chromosomes and the way DNA sits within them. To put it to the test on an ancient specimen, they needed to find a mammoth carcass in tip-top shape. It took the researchers five years to land on a suitable specimen -- an immensely well-preserved portion of mammoth skin called YakInf, which was uncovered in 2018 near Belaya Gora in Siberia. They knew straight away that it was something special because the hair was still intact, which suggested the mammoth hadn't gone through periods of thawing and refreezing. "You could actually see individual hair follicles from this woolly mammoth, and that's quite remarkable," Professor Lieberman Aiden said at a press conference. "The hair follicle of a woolly mammoth had never been visualised before." A microscopic image of a round blue blob The hair follicle from 52,000-year-old mammoth skin was still intact. (Supplied: Elena Kizilova/Institute of Cytology and Genetics SB RAS) The dehydrated skin sample has been described as glass-like or freeze-dried, which trapped the fragments of DNA in place. "What we think happened is that this sample freeze dried, forming a kind of beef jerky," Professor Lieberman Aiden said. What does this mean? DNA is not in the business of sticking around long after death. Normally, after an animal or other creature dies, its DNA quickly breaks into smaller and smaller pieces as it and the body decays. "It becomes really hard to read those DNA bases," Dr Kaur said. "And the more degraded the sample, the more missing data points are there." By the time the DNA becomes ancient -- hundreds or thousands of years after death -- researchers only have access to small sections of the DNA to piece back together, like an incomplete jigsaw puzzle. If researchers have access to lots of samples, this is easier, as it works like having multiple copies of the same jigsaw puzzle with different missing pieces. Teams also can sometimes use "reference genomes" from genetically similar species to check they are on the right track. A hoof and furry leg of a mammoth. It is incredibly well preserved. The leg of a different woolly mammoth named Yuka. She was unearthed in 2010.(Supplied: Love Dalen, Stockholm University) Hi-C works in a similar way to this reference genome but in 3D, and detects which sections of fragmented DNA are likely to be neighbours and interact with each other. The team used Hi-C to create the 28-chromosome mammoth genome in detail, then referenced it against the genomes of modern Asian and African elephants. Past research has shown that Asian elephants are genetically closer to mammoths than they are to African elephants. The new analysis revealed the skin samples were similar to that of Asian elephants. A drawing of a mammoth surrounded by tusks and bones An illustration of a mammoth on Wrangel Island, the last place mammoths survived. (Supplied: Beth Zaiken) In the past, other, even older, woolly mammoth genomes have been constructed by combining information from multiple samples, or using reference genomes to fill in the gaps. But because of the freeze-dried nature of the samples, the team could analyse not only the genome itself, but also its shape and structure, which provides more information. For example, the team could see which genes were switched on and off within the skin cells, the first time researchers have done so. They discovered certain genes involved with cold adaptation and hair growth were turned on in a mammoth, but not in an elephant. Sally Wasef, a palaeogeneticist at Queensland University of Technology who was not involved in the research, was impressed with the techniques. "My first thoughts were, 'Oh that really is a breakthrough,'" she said. "I'd love to see how they're going to apply it to different [ancient] samples." What other ancient DNA could be investigated? While experts agree this is an impressive discovery, finding specimens as old and well-preserved as the 52,000-year-old mammoth skin won't happen often. That's because in most places around the world, the temperature isn't as cold and stable as Siberia. "They're very lucky because the mammoth died in the 'deep freezer,'" University of Melbourne geneticist Andrew Pask said. An equally old sample from any warmer climate would have "all just gone to mush", he said. Loading... This means there's no chance that Australia could harbour an animal as well preserved and as ancient as the mammoth, Professor Pask added. "There's a degree of rotting that happens before the corpse dries out. "The DNA is smashed to pieces. We're just too warm." While cold, freezer-like environments are the best place to find other samples, the team behind the latest study suggest that hot, dry environments may also produce the glass-like DNA state suitable for Hi-C analysis. If true, this could mean Egyptian mummies may be tested using this technique too. But Dr Wasef believes that ancient Egyptian DNA may be too degraded. "Mummification helped," she said, "but not enough to preserve long fragments [of DNA required for Hi-C]." Instead, she thinks the technique could be used on ancient hominids like Denisovans -- whose fossils have also been found in cooler areas like Siberia -- to see how they differed from our species, Homo sapiens. "Some [Denisovan fossils] have been found in very good condition," she said. "It will tell you more about the environment where they lived, their interactions with the environment around them, and what led to their extinction." De-extinction? While uncovering a 52,000-year-old chromosome was exciting in itself, the researchers were also interested in how the technique could help bring ancient species back to life, known as de-extinction. Professor Lieberman Aiden is one of two senior authors on the paper who are advisors to biotechnology startup Colossal Biosciences, the company working on reviving the mammoth. A man in a blue jumper standing in an art exhibition. Professor Pask and his team are working to recreate the Tasmanian tiger, which has been extinct for almost 90 years.(ABC News: Luke Bowden) Professor Pask heads the Thylacine Integrated Genetic Restoration Research (TIGRR) lab, which is a partnership between the University of Melbourne and Colossal. For him, the mammoth chromosome finding is encouraging, but is not "a total game changer" for de-extinction. Thylacine de-extinction questioned in art exhibition Even though we might be able to bring the thylacine back from extinction this science exhibition asks whether we should. A Tasmanian tiger stands in an enclosure. Read more Professor Pask has also used the Hi-C technology for his work on the thylacine de-extinction project. "We're trying to do it with some of the better preserved thylacine tissues, just to see if we could get some architecture," he said. "There are some specimens that were put into ethanol and then placed in a museum collection, and have been kept at good temperatures for their entire storage." While de-extinction is not without its critics, those excited about the technology believe this new finding could be part of the solution. "[Humans] being the ultimate keystone species ... is an extraordinary responsibility," Professor Lieberman Aiden said. "I hope we act responsibly with all the powerful technologies at our disposal -- de-extinction being one of them." Science in your inbox Get all the latest science stories from across the ABC. Your information is being handled in accordance with the ABC Privacy Collection Statement. Email address [ ] Subscribe Posted Yesterday at 6:38pmThu 11 Jul 2024 at 6:38pm Share * Copy link * Facebook * X (formerly Twitter) * Related Stories * Wild dog or dingo? Ancient DNA study suggests there's not much dog at all A single dingo lies down on sand * Wild 'de-extinction' plan aims to bring woolly mammoths back to life Colossal co founders Ben Lamm and George Church pose in front of woolly mammoth tusks. * Record for oldest DNA sequencing smashed with mammoth teeth breakthrough Three woolly mammoths walking along a snowy landscape. 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