https://www.eurekalert.org/pub_releases/2018-03/cshl-6hs031518.php
In 2003, scientists made a surprising discovery of a 6-inch mummified humanoid skeleton in the Atacama region of Chile with an estimated bone age of about 6-8 years old at the time of death. The specimen's exceptionally small stature and multiple skeletal abnormalities, including a cone-shaped skull led to widespread speculation on its origin. In a study published today in Genome Research, whole genome sequencing of the Atacama (Ata) skeleton offers insights into its ancestry and strange phenotype.
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."