Six-inch human skeleton had multiple disease-associated mutations

Popular Archeology | 3/22/2018 | Staff
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The skeleton, discovered in a leather pouch behind an abandoned church, was pristine: a tiny figure, just six inches long, with a cone-shaped head, 10 pairs of ribs, and bones that looked like those of an eight-year-old child. Found in the Atacama Desert of Chile and later affectionately nicknamed "Ata," the skeleton made its way onto the black market for archeological finds and then to a collector in Spain who thought it might be the remains of an extraterrestrial being.

But a forensic analysis of Ata's genome by scientists at UC San Francisco and Stanford University has proved beyond a doubt that it is human. Ata has the DNA of a modern human female with the mix of Native American and European ancestral markers one would expect from someone who lived near the place where she was found. And her arresting appearance, which scientists refer to as a phenotype, can most likely be explained by a handful of rare genetic mutations--some already known, others newly discovered--that are linked to dwarfism and other bone and growth disorders.

Discoveries - Thursday - March - Genome - Research

Their discoveries, published Thursday, March 22, 2018, in Genome Research, does more than lay to rest the fable of Ata's extraterrestrial origins. It also illustrates how far open-source genetic data has come in enabling the sort of needle-in-a-haystack analysis that can pinpoint the handful of mutated genes--out of more than 2.7 million single-nucleotide variants (SNVs) in Ata's genome--that were most likely to be associated with the unusual shape of her body.

Early analyses revealed that the Ata skeleton contained high-quality DNA that was suitable for modern sequencing technology. "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 senior author Garry Nolan from Stanford University....
(Excerpt) Read more at: Popular Archeology
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