A skeleton discovered in Atacama desert of Chile that was long thought to be of alien origin after 15 years has finally been identified.
In 2003, scientists made a surprising discovery of a 6-inch mummified humanoid skeleton with an estimated bone age of about 6-8 years old at the time of death.
Scientists were confused by its size, slanted eye sockets, long, angular skull and 10 pairs of ribs compared to the normal 12 in humans, all led to widespread speculation on its origin.
In a study published in Genome Research, whole genome sequencing of the Atacama (Ata) skeleton revealed Ata “belonged to the modern age,” which meant it contained high-quality DNA usable for examination.
Using DNA extracted from bone marrow taken from the skeleton’s ribs in 2012 was analyzed. Through whole-genome sequencing analysis over five years, senior author Garry Nolan from Stanford University and his colleagues concluded that Ata is a human female likely of Chilean descent with multiple bone disease-associated mutations.
Sequencing reads were aligned to human and non-human primate reference genomes, including chimpanzee and rhesus macaque.
The researchers said the mutations linked with small stature, rib anomalies, skull malformations, premature bone age are a result of multiple known and unknown gene mutations associated with bone development. such diseases are dwarfism, scoliosis, and musculoskeletal abnormalities.
“This was an unusual specimen with some fairly extraordinary claims put forward. … it would be an example of how to use modern science to answer the question “what is it?” says Nolan.
“This is a great example of how studying ancient samples can teach us how to analyze modern-day medical samples,” says co-author Atul Butte, UCSF.
Dr. Atul Butte told CNN that there are mutations in many genes, but there are several of them hadn’t been known to cause growth or developmental disorders. “Ata may improve our understanding of the functional basis of genetic skeletal disorders,” he said.
This month @genomeresearch publishes the genome of a six-inch mummified skeleton revealing its small stature and multiple bone abnormalities were caused by mutations for dwarfism, scoliosis, and other musculoskeletal abnormalities. https://t.co/JgqXxpCA6c
— Genome Research (@genomeresearch) March 22, 2018