The team also looked at mitochondrial DNA, or the DNA inside the cells' energy-making structures that gets passed down from mothers to offspring. The so-called allele frequency of the mitochondrial DNA suggested the individual came from the Atacama, particularly from the B2 haplotype group. A haplotype is a long segment of ancestral DNA that stays the same over several generations and can pinpoint a group who share a common ancestor way back in time. In this case the B2 haplotype is found on the west coast of South America.
The data from the mitochondrial DNA alleles point toward "the mother being an indigenous woman from the Chilean area of South America," Nolan wrote in an email.
The jury is still out on the mutations that caused the deformities, and the researchers aren't certain how old the bones are, though they estimate the individual died at least a few decades ago. In addition, they didn't find any of the mutations commonly associated with primordial dwarfism or other forms of dwarfism. If there is a genetic basis for the deformities, it is "not apparent at this level of resolution and at this stage of the analysis," Nolan wrote in a summary of his work.
In addition, even if they found those mutations, they may not explain the anomalies seen in the skeleton. "There is no known form of dwarfism that accounts for all of the anomalies seen in this specimen," Dr. Ralph Lachman, professor emeritus, UCLA School of Medicine, and clinical professor at Stanford University, wrote in a report to Nolan.
This wouldn't be the first time alien-looking remains have been brought to the attention of science. The alienlike skulls of children were discovered in a 1,000-year-old cemetery in Mexico. Researchers who examined the skulls said they had been deliberately warped and illustrated a practice of skull deformation that was common at the time in Central America.
"It's an interesting medical mystery of an unfortunate human with a series of birth defects that currently the genetics of which are not obvious," Nolan wrote of the Atacama skeleton.
The research was featured in film "Sirius," a crowd-funded documentary that premiered on April 22 in Hollywood, Calif.
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