Ata Not an Alien: Mummified 6 Inch Atacama Skeleton, 6 to 8 Years Old at Death, Was Human Says DNA Analysis

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.

Researchers from the University of California, San Francisco, Roche Sequencing Solutions, Stanford University, National Autonomous University of Mexico, Ultra Intelligence Corporation, and Stanford University School of Medicine contributed to this work. The study was supported by the Lucile Packard Foundation for Children’s Health, the University of California San Francisco endowment, the Human Frontier Science Program Fellowship, and the Rachford and Carlota A. Harris Professorship.

About Genome Research:

Launched in 1995, Genome Research is an international, continuously published, peer-reviewed journal that focuses on research that provides novel insights into the genome biology of all organisms, including advances in genomic medicine. Among the topics considered by the journal are genome structure and function, comparative genomics, molecular evolution, genome-scale quantitative and population genetics, proteomics, epigenomics, and systems biology. The journal also features exciting gene discoveries and reports of cutting-edge computational biology and high-throughput methodologies.

Contacts: and sources:
Dana Macciola
Cold Spring Harbor Laboratory Press

Citation  : Bhattacharya S, Li J, Sockell A, Kan M, Bava F, Chen, S, Ávila-Arcos M, Ji X, Smith E, Asadi N, Lachman R, Lam H, Bustamante C, Butte A, Nolan G. 2018. Whole genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia. Genome Research doi: 10.1101/gr.223693.117