A mummified specimens of the chilean Atacama region fuelled speculation for ten years about his special skull. Credit: Bhattacharya S et al. 2018
A small, pointed head skeleton that fits in the palm of a hand is not a stranger, despite conspiracy theories that have circulated for a year.
The skeleton, with a dramatically elongated skull, and undeveloped jaws and face, was discovered in Chile’s Atacama Desert in 2003, and scientists are baffled when it was first found.
Research published in 2013 offered some clues about the skeleton’s bizarre appearance, but five additional years of genetic analysis have even more answers. Examination of the skeleton of the whole genome revealed that the Chilean and female, and that his misshapen skull, and other deformities can be linked to a host of genetic mutations that affect skeletal development. Together, these changes shaped a range of deviations that gave it continues to a alien-like form. [Image Gallery: Odd Alien-Looking Skeleton Poses Medical Mystery]
Although the skeleton is the size of a 22 weeks old fetus, it was at first thought to be a 6 – to 8-year-old children with serious deformities. Almost a decade later, a very detailed analysis, including X-rays, computed tomography (CT) scans and DNA sequencing showed that it was a fetus (and it sure was man).
It is difficult to say how old the skeleton is just by looking at it, but for the exams, find it to be about 40 years old, scientists explained in a new study. Despite the skeleton of the tiny size the previous analysis cast doubt on whether a fetus is because the “advanced bone age” more closely resembled that of a young child, particularly in the structure of the skeleton, the skull, with sutures already fused.
But that function was a byproduct of a genetic mutation — one of the many that caused numerous malformations of the skeleton. And, in fact, the premature fusing of the skull plates in the fetus is what gave the skull its pointed form, the researchers reported.
The scientists extracted DNA from one of the skeleton of the ribs — another anomaly which has previously fuelled speculation about the extraterrestrial origins, there were 10 pairs, instead of the 12 that is normal in humans.
However, alien hunters will probably be disappointed to hear that “the sample is shown here to a purely earthly origin,” the study authors reported.
Genetic abnormalities, not alien DNA
While the scientists found no evidence of alien DNA, they did find mutations in seven of the fetus in the genes: COL1A1, COL2A1, KMT2D, FLNB, ATR, TRIP11, and PCNT. Mutations in these genes are known to play roles in the early joint fusion, defects in rib development, deformed skulls, and diseases that inhibit the development of bone and cartilage, according to the study.
Taken together, the mutations expressed by these genes would explain the fetal skeleton abnormalities the scientists concluded. However, the finding of so many mutations that specifically affect the bone development is unusual; in fact, it has never been reported before, and it is unknown what triggered this cascade of mutations, study lead author Garry Nolan, a professor of microbiology and immunology at Stanford University, told Science in an e-mail.
As bizarre as this skeleton may seem, it is not the first example of the remains that look mostly human, but still invite comparisons of popular images of creatures from science fiction.
In 1999, excavations in a 1,000 year old cemetery in Mexico has yielded 13 human skeletons — many-children — with skulls that were stretched and pointed in the back, with a distinctly alien appearance. But the researchers determined that the skulls’ unusual shapes derive from cultural practices that are intentionally distorted on the bone, similar to that in the pre-Hispanic cultures in Central America.
And 14 are elongated, alien-like skulls in the Bavarian tombs dating to 1500 years ago were traced to the cultural practices of the skull shapes, this time in the tribes from the southeast of Europe, Live Science reported earlier.
However, five so-called “alien” mummies of Peru — mummified humanoids with three fingers, the hands were widely denounced by experts as fabrications, maybe even cobbled together from stolen body parts that belong to real human remains. [Photos: ‘Alien’ Skulls Reveal Odd, Ancient Tradition]
Genes work together
The bigger story is not about the skeleton is debunked “alien” origin, but what the analysis reveals about how genes shape of our skeletons as they develop and grow, and how they interact with each other to do this — whether successful or not, Nolan told Science in an e-mail.
“The era of single-gene/single disease is just about over — it is now time to look to the more subtle effects as the genes interact with each other,” Nolan wrote. “In isolation, a gene may have no effect … but in combination with other genes, the results can be dramatic.”
The idea of gene cooperation is not new to geneticists; it is well studied for years in the models that are derived from fruit flies, plants, and yeasts, Nolan said. But now, researchers are compiling enough data to understand these genetic interactions in humans, and examine how they affect our biology.
“These studies show that certain gene mutations can ‘vote’ in the direction of a certain body plan, or illness,” Nolan said.
And the new study, whose findings on the genetic control of the bone growth could help researchers reverse-engineering solutions for disorders that affect how bones grow, Nolan told Science in an e-mail.
“The deeper knowledge about the growth of bones disorders will show how a normal growth to develop,” he said. “It might offer for an understanding of how we can (with medication) to stimulate the growth of bones in case of a catastrophic accident to help patients.”
The findings are published online today (22 March) in the journal Genome Research.
Original article on Live Science.