Origin of ‘six-inch mummy’ confirmed

Tests on a six-inch-long mummified skeleton from Chile confirm that it represents the remains of a newborn with multiple mutations in key genes.

Despite being the size of a foetus, initial tests had suggested the bones were of a child aged six to eight.

These highly unusual features prompted wild speculation about its origin.

Now, DNA testing indicates that the estimated age of the bones and other anomalies may have been a result of the genetic mutations.

Details of the work have been published in the journal Genome Research.

In addition to its exceptionally small height, the skeleton had several unusual physical features, such as fewer than expected ribs and a cone-shaped head.

The remains were initially discovered in a pouch in the abandoned nitrate mining town of La Noria. From there, they found their way into a private collection in Spain.

Some wondered whether the remains, dubbed Ata after the Atacama region where they were discovered, could in fact be the remains of a non-human primate. A documentary, called Sirius, even suggested it could be evidence of alien visitations.

Genetic investigation

The new research puts those ideas to rest.

A scientific team analysed the individual’s genome – the genetic blueprint for a human, contained in the nucleus of cells.

They had already used this to confirm that the individual was human. Now, the team has presented evidence that Ata was a female newborn with multiple mutations in genes associated with dwarfism, scoliosis and abnormalities in the muscles and skeleton.

“What was striking and caused us to speculate early on that there was something strange about the bones was the apparent maturity of the bones (density and shape),” said Garry Nolan, a professor of microbiology and immunology at the Stanford University School of Medicine in California.

He told BBC News: “There was proportionate maturation of the bones, making the body look more mature despite the fact that the specimen was itself small. This discrepancy drove much of the research. So, we believe that one or more of the mutated genes was responsible for this.”

The results revealed four new single nucleotide variants (SNVs) – a type of genetic mutation – in genes that were known to cause bone diseases, like scoliosis or dislocations, as well as two more SNVs in genes involved in producing collagen.

Ata also had 10 pairs of ribs, rather than 12 – a feature that has never been seen in humans before.

“We actually believe the girl was stillborn or died immediately after birth,” said Prof Nolan.

“She was so badly malformed as to be unable to feed. In her condition, she would have ended up in the neonatal ICU.”

However, access to advanced medical care was probably unavailable in the remote Chilean region where she was found. The skeleton’s intact condition suggests it may be no more than 40 years old.

Future benefit

Prof Nolan began the scientific investigation of Ata in 2012, when a friend called saying he might have found an “alien”.

He explained: “While this started as a story about aliens, and went international – it’s really a story of a human tragedy. A woman had a malformed baby, it was preserved in a manner and then “hocked”, or sold.”

The scientists said that future studies of Ata had the potential to improve our understanding of the underlying basis of genetic skeletal disorders – with the potential to help others.

“Analysing a puzzling sample like the Ata genome can teach us how to handle current medical samples, which may be driven by multiple mutations,” said Atul Butte, director of the Institute for Computational Health Sciences at the University of California, San Francisco.

“When we study the genomes of patients with unusual syndromes, there may be more than one gene or pathway involved genetically, which is not always considered.”

Prof Nolan says further research into Ata’s precocious bone aging could one day benefit patients. “Maybe there’s a way to accelerate bone growth in people who need it, people who have bad breaks,” he said. “Nothing like this had been seen before. Certainly, nobody had looked into the genetics of it.”

He added: “I think it should be returned to the country of origin and buried according to the customs of the local people.”

Origin of ‘six-inch mummy’ confirmed

Tests on a six-inch-long mummified skeleton from Chile confirm that it represents the remains of a newborn with multiple mutations in key genes.

Despite being the size of a foetus, initial tests had suggested the bones were of a child aged six to eight.

These highly unusual features prompted wild speculation about its origin.

Now, DNA testing indicates that the estimated age of the bones and other anomalies may have been a result of the genetic mutations.

Details of the work have been published in the journal Genome Research.

In addition to its exceptionally small height, the skeleton had several unusual physical features, such as fewer than expected ribs and a cone-shaped head.

The remains were initially discovered in a pouch in the abandoned nitrate mining town of La Noria. From there, they found their way into a private collection in Spain.

Some wondered whether the remains, dubbed Ata after the Atacama region where they were discovered, could in fact be the remains of a non-human primate. A documentary, called Sirius, even suggested it could be evidence of alien visitations.

Genetic investigation

The new research puts those ideas to rest.

A scientific team analysed the individual’s genome – the genetic blueprint for a human, contained in the nucleus of cells.

They had already used this to confirm that the individual was human. Now, the team has presented evidence that Ata was a female newborn with multiple mutations in genes associated with dwarfism, scoliosis and abnormalities in the muscles and skeleton.

“What was striking and caused us to speculate early on that there was something strange about the bones was the apparent maturity of the bones (density and shape),” said Garry Nolan, a professor of microbiology and immunology at the Stanford University School of Medicine in California.

He told BBC News: “There was proportionate maturation of the bones, making the body look more mature despite the fact that the specimen was itself small. This discrepancy drove much of the research. So, we believe that one or more of the mutated genes was responsible for this.”

The results revealed four new single nucleotide variants (SNVs) – a type of genetic mutation – in genes that were known to cause bone diseases, like scoliosis or dislocations, as well as two more SNVs in genes involved in producing collagen.

Ata also had 10 pairs of ribs, rather than 12 – a feature that has never been seen in humans before.

“We actually believe the girl was stillborn or died immediately after birth,” said Prof Nolan.

“She was so badly malformed as to be unable to feed. In her condition, she would have ended up in the neonatal ICU.”

However, access to advanced medical care was probably unavailable in the remote Chilean region where she was found. The skeleton’s intact condition suggests it may be no more than 40 years old.

Future benefit

Prof Nolan began the scientific investigation of Ata in 2012, when a friend called saying he might have found an “alien”.

He explained: “While this started as a story about aliens, and went international – it’s really a story of a human tragedy. A woman had a malformed baby, it was preserved in a manner and then “hocked”, or sold.”

The scientists said that future studies of Ata had the potential to improve our understanding of the underlying basis of genetic skeletal disorders – with the potential to help others.

“Analysing a puzzling sample like the Ata genome can teach us how to handle current medical samples, which may be driven by multiple mutations,” said Atul Butte, director of the Institute for Computational Health Sciences at the University of California, San Francisco.

“When we study the genomes of patients with unusual syndromes, there may be more than one gene or pathway involved genetically, which is not always considered.”

Prof Nolan says further research into Ata’s precocious bone aging could one day benefit patients. “Maybe there’s a way to accelerate bone growth in people who need it, people who have bad breaks,” he said. “Nothing like this had been seen before. Certainly, nobody had looked into the genetics of it.”

He added: “I think it should be returned to the country of origin and buried according to the customs of the local people.”

Archaeological treasures hiding in London’s mud

Continuing a tradition popularised by the Victorians, “mudlarkers” scour the foreshore of the Thames in search of historical treasures.

Two thousand years of human history are revealed by the low tide on London’s largest archaeological site and we spoke to the foreshore’s mudlarkers about their favourite finds.

At around 5am every morning, mudlarkers like Nick Stevens set out to explore the foreshore’s offering.

Nick came to mudlarking through his childhood interests in fossil hunting which explains how he managed to spot a rare Megalodon tooth in the barge bed.

“I always loved fossils so when I saw this I had a hunch it was from something big.”

The Megalodon was a type of shark that lived in UK waters millions of years ago.

The shark ancestor had a bite force of 12 to 20 tonnes, roughly six to 10 times stronger than the bite of modern great whites.

“The tooth would have been buried up to 16 million years ago before being washed out of the Essex clays,” Nick says.

Another of Nick’s most memorable finds is a 17th Century traders’ token from Puddling Lane. The token was made just eight years before the Great Fire of London by a winemaker named Brian Appleby. Traders would typically produce their own tokens for use as coins when the Mint ran out.

“The tokens always have the trader and his wife’s name, their trade, location and date like the one I found from Brian Appleby in 1657 who was a vintner at Ye Maidenhead on Pudin (Pudding) lane.”

Nick even found the human skull of a 12-year-old girl which has since been carbon-dated to 1730.

After he saw the skull, Nick returned with an archaeologist friend to discover the skeleton and noted the grave cuts in the soil, suggestive of a marsh-land burial.

The remains now sit in the Museum of London and have inspired Nick’s plan to open a Museum of Mudlarking on the foreshore.

  • In pictures: Hunting for treasure at low tide

    Lara Maiklem runs “London Mudlark”, the largest online mudlarking community and has spent over 20 years searching the foreshore.

    “Every tide reveals something different and each find is a precious window into past lives lived on and around the capital’s river,” she says.

    The Facebook site Lara started in 2012 now has 32,911 followers, posting photographs of a range of artefacts from love tokens, buckles and thimbles to curlers and combs.

    Lara relishes in finding these ordinary pieces of everyday life.

    “Medieval floor tiles like this one often wash up and I love how the paw prints capture a moment in time – a dog or cat scarpering across the nearly-dry clay.”

    Lara’s most memorable find is a 500-year-old leather Tudor shoe.

    “It even has indentations in the sole from the toes and heel of the last person to wear it,” she explains.

    “The shoe is preserved amazingly well in the foreshore because the mud is anaerobic, creating an oxygen-free environment which preserves them as if they’d been lost yesterday.”

    Lara contacted Cardiff University’s conservation department where the shoe then became involved in a project to study the process of conserving leather.

    “When I found this beautiful complete one I decided it needed to be conserved properly. I had it for two years before I could find someone to conserve it for me.”

    Florence Evans grew up near the river in southwest London and fell in love with mudlarking as a child, having a keen eye for collecting willow pattern fragments of blue and white china.

    It wasn’t until maternity leave that Florence’s interests in mudlarking reignited: “It was a brilliant way of getting head space while my daughter fell asleep in the sling.”

    Florence’s favourite find is a merino glass bead dating to the 1500s. “I wear it on a chain and love the thought that it could have snapped off a Renaissance woman’s necklace while she walked through a London street.”

    Another notable find is a mysterious enamel tie pin. Florence found the Freemason male secretary’s pin on the foreshore and believes it to be dated to the 1920s.

    “Different areas of the beaches have different finds. Metal congregates together while pottery washes up in another place as the river organises itself,” Florence says.

    Four-year-old daughter Cecilia has already developed a love of purple pottery and anything with flowers and birds.

    “She’s become my mudlarking companion, learning history through the river like I did. It’s a joint joy.”

    A current foreshore permit from the Port of London Authority is needed for anyone wishing to search the Thames’ muds.