Alien-looking skeleton revealed as a human who lost the genetic lottery

Ever since the mummified remains of a 13-centimetre humanoid was discovered 15 years ago in the Atacama Desert region in Chile, imaginations have run wild with speculation about its possible extraterrestrial origin. A documentary was even made about it suggesting it could be evidence of alien life here on Earth.

This is really not a story of aliens infesting the Atacama region of the desert. This is actually a human tragedy.- Dr. Garry Nolan, Stanford University

This week, scientists from California published their results from sequencing the specimen's entire genome. Not only is the specimen entirely human, but the research team, led by Dr. Garry Nolan - a professor of immunology and microbiology from Stanford University, discovered this baby girl's genome was riddled with mutations related to bone development.

"This is really not a story of aliens infesting the Atacama region of the desert," says Dr. Nolan. "This is actually a human tragedy."

• Paper in the journal Genome Research

The specimen is the size of a 22-week-old fetus, but looks nothing like one. Barely longer than a pen, it's strangely slender with an odd elongated skull and large, deep eyes, and only 10 ribs when we normally have 12.

"You look at it and in one sense it looks like a human, but especially when you look at the shape of the head and eyes, it's spectacular," says Dr. Nolan. "It could easily lead anybody to think that it might be an alien; the large eyes, the large head, and the thin face. It really meets or matches quite well with Hollywood's version of what a humanoid alien might look like. But our immediate thought when looking at it was that it was either some new form of a primate that hadn't been recognized before or some sort of birth deformity."

It really meets or matches quite well with Hollywood's version of what a humanoid alien might look like.- Dr. Garry Nolan, Stanford University

Dr. Nolan became interested in studying the specimen after a friend showed him the skeleton in a picture. He then reached out to a group of filmmakers with access to the specimen to see if he could help analyze its DNA. "There's good science that can be done on a sample like this and if it does have DNA, then it's pretty straightforward to work that out."

Dr. Nolan and his team did an initial genetic assessment and was able to match 92 per cent of the skeleton's DNA to human DNA. He says that at the time the other eight per cent of the DNA was slightly degraded and he needed more sophisticated algorithms to finish the matching, which they subsequently did.

"The more sophisticated algorithms ... were able to match up to now 98 per cent." Dr. Nolan says the remaining two per cent of the DNA were simply not readable due to artifacts in the sequencing process, which he says is quite normal.

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From the previous analysis, they determined that the specimen came from the Atacama region. "Not only did it match the area of the Atacama region that was claimed to be the origin of the specimen," says Dr. Nolan. "But it actually had a little bit of an admixture of some European, meaning that it was - again - human."

They also estimate the specimen itself is about 40 years old. "It's not ancient because the specimen itself is actually pristine. And given that it's the driest area on earth that was probably the means by which it was mummified."

Dr. Nolan suspects the specimen, a female, was "probably stillborn or died within hours after being born."

When the team from Stanford University did a detailed analysis of the whole genome sequence, they found a plethora of mutations concentrated in genes related to bone growth.

We found a high concentration of mutations that were in bone development: genes known to be associated with small stature, genes associated with elongated leg bones, genes that were associated with premature ossification, which is the basically the process by which bone hardens.- Dr. Garry Nolan, Stanford Univeristy

"We found a high concentration of mutations that were in bone development: genes known to be associated with small stature, genes associated with elongated leg bones, genes that were associated with premature ossification, which is the basically the process by which bone hardens," says Dr. Nolan. "So basically, she rolled the lottery bad."