In La Noria, a deserted mining town in Chile’s Atacama region, tiny skeletal remains were found, the likes of which, no one had seen, before. The skeleton is a mere six inches tall, has only ten sets of ribs instead of the typical twelve, and an elongated angular skull, with slanted eye sockets.
It was 2003 when the skeleton was found. Initial analysis was performed in 2012, proving, rather than having discovered an ancient being, the remains were only about forty years old. Because it was so recent, the DNA still would be intact, and could be studied.
The mummified skeleton was dubbed Ata, and generated more questions than answers about its origins and identification. Was it a primate that had been previously unidentified, or could it have been, based on its most unusual appearance, an extraterrestrial life form?
All the speculation about Ata drew the attention of Gary Nolan, Professor of Microbiology and Immunology at Stanford University. He put together a team of colleagues, and together they conducted a five year study of Ata’s DNA, culminating in the publication of a paper, concluding Ata is human.
They determined she was a human female, a fetus, and had Chilean ancestry. The researchers had believed early on that the bone age was between six and eight years of age. However, as their work progressed, they discovered the remains had a rare bone-aging disorder which made her appear older than she was.
The study revealed a number of mutations within seven genes, which created bone and musculoskeletal deformities. These mutations are involved with the production of collagen in bones and hair, joints, ribs, and arteries.
The authors of the study of Ata’s genomic analysis want the public to know: She is human, and had multiple bone disease-associated mutations. Their findings, published in the journal, Genome Research, hopefully will help diagnose genetic mutation-based cases for living patients.
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