The article, referring to partially mummified body found in the Atacama Desert states that ‘The astonishing thing is that 9% of its DNA is unmatched…’ Is that really true and, if so, does it actually mean anything?
Interest in the “Atacama entity” (or just “Ata”) is cyclical, the most recent spike coming in the Fall of 2014. Facebook pseudoscience peddler The Mind Unleashed posted a status update linking to a 2013 article about the Atacama entity which renewed attention to the anomaly:
Since its discovery in 2003, the Atacama skeleton has challenged scientists to fully explain the anomalies in its structure. However, testing has shed significant light on what may have led to the specimen’s puzzling appearance. Although the Atacama skeleton was originally thought to be tens of thousands of years old, testing revealed DNA that was “modern, abundant, and high quality.” Furthermore, matrilineal testing traced that DNA to the west coast of South America, not a distant galaxy.
In 2012, Stanford University immunologist and microbiologist Garry Nolan took a crack at unlocking the Atacama specimen’s mysteries. Nolan confirmed Ata was definitively human, addressing a nine percent DNA mismatch as likely the result of “bad reads” or “machine error.” He was unable to identify any genes linked to progeria or dwarfism in the sample, and other experts believe that the specimen may be a mummified stillborn baby.
William Jungers, a paleoanthropologist and anatomist at Stony Brook University Medical Center in New York, observed “barely ossified and immature elements” of the specimen’s development and said “This looks to me like a badly desiccated and mummified human fetus or premature stillbirth … Genetic anomalies are not evident, probably because there aren’t any.”
Nolan discussed what DNA testing confirmed about the Atacama skeleton, saying that:
The sequence that we got from the mitochondria tells us with extremely high confidence that the mother was an indigenous Indian from the Chilean area. The other thing that immediately fell out of the analysis is that it’s male. It probably died in the last century, if I were to make a guess.
In March 2018, enhanced DNA analysis revealed that some previous anomalies were due to the degraded condition of the sample, and that the skeleton was that of a young human female:
DNA analysis would tell the true story. A sample extracted from the bone marrow of Ata’s ribs was used to conduct a whole-genome sequence analysis.
It was compared with human and primate genomes and determined to be a human female, probably a fetus, with Chilean ancestry. Although dating initially estimated the bone age of the skeleton at between 6 and 8 years, the researchers found that the remains had a rare bone-aging disorder that made them seem older than the person they belonged to.
At first, 8% of the DNA didn’t match with human DNA. Researchers determined that this was because of a degraded sample. An improved analysis matched up to 98%, Nolan said. Given the exposure and age of the skeleton, this wasn’t surprising. Then, they moved on to diagnosing the abnormalities.
The researchers were looking for what might explain the skeleton’s small stature, as well as the abnormal rib count and other bone and skull oddities.
[Analysis] revealed a number of mutations within seven genes. Together, these created bone and musculoskeletal deformities, like scoliosis, and skeletal dysplasia, known as dwarfism.