Mystery of the supposed alien solved
The flawless skeleton of the alien-like creature was discovered in a leather bag behind an abandoned church in the Atacama Desert in Chile. The tiny creature is only 15 centimeters long and has a conical head, only ten pairs of ribs and bones that looked like those of an eight-year-old child. The mummified creature was first traded on the black market as an alien corpse and finally came into the hands of a Spanish trader. Now a forensic analysis was performed that solved the little nerd's riddle.
The little creature was given the name "Ata". Scientists at the University of California San Francisco (UCSF) and Stanford University have proven beyond any doubt that it is human. Ata has the DNA of a human woman with a mixture of Indian and European ancestors. This mixture is typical for the location of the body. Nevertheless, the find is a scientific phenomenon since Ata has a handful of rare genetic mutations. Some of these mutations were first discovered on the body. The results of the analysis were published in the specialist journal "Genom Research".
Mutations caused the strange appearance
"The bioinformatics analyzes in the study led to the discovery of new and rare harmful variants in the genes of the Ata phenotype," explains Sanchita Bhattacharya, a bioinformatics researcher at UCSF in a press release from the university about the study results. The analysis was very difficult due to the very limited amount of information about the specimen and the lack of family history, making this a unique case.
Computer aided analysis
The researchers used the so-called "Human Phenotype Ontology (HPO)", a database that contains general genomic data that was compared with the genes of the enigmatic corpse. In a first analysis, the scientists found 64 gene variants that were probably harmful. A comparison with the HPO database showed that most of the mutations were related to the skeletal system. This resulted in short stature and the 10 pairs of ribs that were first observed at Ata.
The results showed four first-time discovered genetic mutations in the genes that cause bone diseases such as scoliosis or organ displacement. In addition, two other mutations have been discovered that are involved in the production of collagen.
The researchers report that they came to the results using a backward-looking approach to the analysis. Instead of starting with a description of the disease and looking for a mutated gene, the scientists started to compare all of the "patient's" genetic material with the database to see how it differs from a normal sample. The genetic variations that result from this comparison then showed in an unbiased manner which processes are involved.
Ata helps today's medical technology
"Analyzing a puzzling sample like Ata's can teach us how to deal with medical samples that are affected by multiple mutations," said Atul Butte, director of the Institute for Computational Health Science at UCSF. If the researchers examine the genomes of patients with unusual syndromes, there may be genetically more than one gene or pathway that is not always considered.
Ata was initially thought to be an alien
The first tests on Ata were carried out by microbiology and immunology professor Garry Nolan at the medical faculty of Stanford University. He received a call from a friend who said he might have found a real alien. "Nothing like this had been seen before," said Nolan.
Further research on Ata
Nolan believes that further research on Ata's premature bone aging could one day benefit patients. "Maybe there is a way to speed up human bone growth," Nolan suspects. This can help people with bone diseases.
A funeral for little Ata?
Nolan hopes that one day little Ata will get an adequate funeral. "We now know that Ata is a child and likely died either before or after birth," said Nolan. He advocates that Ata be returned to the country of origin and buried according to local customs. (vb)