The solving of the mystery began in 2012 when Garry P. Nolan, an immunologist at Stanford University and lead researcher on the project, heard of the U.F.O. documentary, “Sirius,” which featured the tiny form as possible evidence of aliens. At the time, the film was still in production, so Nolan reached out to producers and offered to examine the mummy’s DNA, Carl Zimmer, wrote for The New York Times.
Carl Zimmer for The New York Times reported that a team of Stanford University scientists finally know how this tiny mummy came to be. A new study published in Genome Research presents DNA analysis of bone marrow cells from the skeleton. The results suggest that the remains belonged to a child who likely had genetic mutations resulting in a bone disorder that caused the unexpected form.
“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?” Nolan says in a press release. The skeleton’s owner — it ended up in a private collection after it was found — sent Nolan X-ray images and bone marrow samples collected from the ribs and right humerus.
In a study published today in Genome Research, whole genome sequencing of the Atacama (Ata) skeleton offers insights into its ancestry and strange phenotype.
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. Using DNA extracted from the bone marrow, Nolan and his colleagues conducted a whole-genome sequence analysis of Ata.
Sequencing reads were aligned to human and non-human primate reference genomes, including chimpanzee and rhesus macaque, which revealed Ata to be of human origin. Ata's Chilean ancestry was resolved by comparing single nucleotide polymorphisms (SNPs) against a database of known SNPs from diverse geographical populations. The ratio of sequence read alignment to the X and Y Chromosomes revealed that Ata was female.
The researchers next probed for genetic clues that could explain Ata's small stature, multiple bone and skull abnormalities, abnormal rib count, and premature bone age. They found multiple mutations in genes associated with diseases such as dwarfism, scoliosis, and musculoskeletal abnormalities. Surprisingly, Nolan claims Ata's "dramatic phenotype could in fact be explained with a relatively short list of mutations in genes known previously to be associated with bone development."
"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. Future studies employing deeper sequencing and analyses of the novel sequence variations found in Ata may improve our understanding of the functional basis of genetic skeletal disorders.
The Daily Galaxy via Cold Spring Harbor Laboratory and Smithsonian Magazine
Image credit: Bhattacharya S., et al. / Via genome.cshlp.org
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