A skeleton of mystery
In 2003, in a deserted nitrate mining town in Chile's Atacama Desert, a treasure hunter named Óscar Muñoz found a small leather pouch. Inside, wrapped in white cloth, was a complete, mummified skeleton measuring only six inches (15 centimeters) long. Its appearance was startling: it had an elongated, conical skull and, instead of the usual 12 pairs of ribs, it had only 10. The skeleton, nicknamed "Ata," was so unusual that it led to speculation about extraterrestrial origins, a theory promoted in the 2013 documentary "Sirius."
The remains were eventually sold to a Spanish businessman and private collector, Ramón Navia-Osorio, who currently owns them. Intrigued by the "Sirius" documentary, Garry Nolan, a professor of microbiology and immunology at Stanford University, contacted the filmmakers to offer his scientific expertise. This began a years-long scientific investigation to understand the nature of the Atacama humanoid. Initial analysis in 2013 confirmed the skeleton was human, but the reasons for its unique morphology remained a puzzle.
The genetic story of Ata
A comprehensive whole-genome sequencing analysis published in 2018 provided answers. The study, led by researchers at Stanford University and the University of California, San Francisco, confirmed that Ata was a human female of local Chilean descent. The DNA was remarkably well-preserved, suggesting the remains are not ancient, but likely date to the last 40 years or so.
The analysis identified 64 rare mutations in at least seven genes connected to skeletal development, dwarfism, and other bone disorders. These genes included COL1A1, COL2A1, and FLNB, which are known to cause conditions that result in small stature, rib anomalies, and cranial malformations. The sheer number of mutations affecting the skeletal system in one individual had never been reported before. This genetic evidence explains Ata's cone-shaped skull, 10 pairs of ribs, and other skeletal abnormalities. The research concluded that Ata was a fetus who was either stillborn or died shortly after birth due to these severe malformations. The advanced bone age—initially estimated to be equivalent to a 6 to 8-year-old child—was also determined to be a result of her specific genetic conditions, not her actual age. Ata's case is now considered a tragic example of a human with a complex and previously unknown genetic disorder.