A mysterious mummified skeleton found in Atacama Desert (a region in Northern Chile) is now confirmed by genetic scientists to be human after five years of genetic research.
There have been captivating insights into the medical reasons for the specimen-never-before seen deformities through the complete genome sequencing.
A study published in Genome Research says that DNA extracted from the remains, by nickname- Ata, holds mutations in seven genes which are connected with bone and facial malformation, the fusion of joints which are premature by nature, as well as dwarfism. So many of the novel sequences of abnormality occurred in genes. These were previously not investigated to affect physical development.
The background of this story could be traced to 2003- when an artifact hunter dug up Ata which was wrapped in a white cloth from the ground of an abandoned church in a town called La Noria.
This was taken to the public by the local media outlets, where the sensationalism around the Ata was put under mercurial justification- who wouldn’t be shocked by a 15-centimeter (6-inch) tall, cone-headed, humanoid skeleton with sinisterly slanted eye socket and the wrong number of ribs? Of course, no one!
Garry Nolan (Ph.D), senior author at the University of Stanford, was captivated. In a statement, Dr. Nolan said: “I had heard about this specimen through a friend of mine, and I managed to get a picture of it. You can’t look at this specimen and not think it’s interesting; it’s quite dramatic. So I told my friend, ‘Look, whatever it is, if it’s got DNA, I can do the analysis.’”
The initial investigation, completed in 2013 provided some answers to this. However clever the answers were, questions regarding this specimen were also raised since many have surmised that Ata was definitely an ancient fetus. Amidst these many guesses, more than enough or ample examinations have shown that the mummified skeleton is just 40 years of age. Still and all, the state the bones of this specimen were found to be conveyed the idea that it died when it was probably six or eight years of age.
To be certain of (through thorough investigation) who or what the skeleton is, Nolan had the pediatric genomics expert, Atul Butte (MD, Ph.D) of the University of California, San Francisco as his co-genetic analyst. Their full genetic analysis which compared Ata’s DNA sequences to those of both healthy and diseased references gives absolute proof that this mummified skeleton is a female of South America descent. The analysis implies that she was a stillbirth with a severe form of skeletal dysplasia and a bone-aging disorder, leading to plate fusion in the early stage.
The paper says: “While the extraordinary phenotype of the specimen drove broad discussion as to its origin, and no hypothesis was left off the table during the analysis, the specimen is shown here to have a purely earthly origin with mutations that reflect the visual determinations. While we can only speculate as to the cause for multiple mutations in Ata’s genome, the specimen was found in La Noria, one of the Atacama Desert’s many abandoned nitrate mining towns, which suggest a possible role for prenatal nitrate exposure leading to DNA damage.”
The understanding of what happened to her might shed more light on skeletal deformities researched on in our generation. Thus, requiring engineering stem cells with each of the 54 mutations, which would be grown in a dish, and then looking for changes in their development.