{"id":29418,"date":"2018-03-23T22:46:45","date_gmt":"2018-03-24T03:46:45","guid":{"rendered":"https:\/\/gregladen.com\/blog\/?p=29418"},"modified":"2018-03-23T22:47:01","modified_gmt":"2018-03-24T03:47:01","slug":"yet-another-south-american-alien-turns-human","status":"publish","type":"post","link":"https:\/\/gregladen.com\/blog\/2018\/03\/23\/yet-another-south-american-alien-turns-human\/","title":{"rendered":"Yet Another South American Alien Turns Out To Be Human"},"content":{"rendered":"

But a very interesting human. A human being six inches tall (if standing), with only 12 sets of ribs, about 7 years old at the time of death. Did I mention six inches tall? New research on the so called “Atacama humanoid” (not an alien, just a human) shows a wide range of interesting genetic differences, according to a just published paper.<\/p>\n

From the abstract:<\/p>\n

Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype\u20146-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age\u2014leading to speculation that this was a preserved nonhuman primate, human fetus harboring genetic mutations, or even an extraterrestrial. We previously reported that it was human by DNA analysis with an estimated bone age of about 6\u20138 yr at the time of demise. To determine the possible genetic drivers of the observed morphology, DNA from the specimen was subjected to whole-genome sequencing using the Illumina HiSeq platform with an average 11.5\u00d7 coverage of 101-bp, paired-end reads. In total, 3,356,569 single nucleotide variations (SNVs) were found as compared to the human reference genome, 518,365 insertions and deletions (indels), and 1047 structural variations (SVs) were detected. Here, we present the detailed whole-genome analysis showing that Ata is a female of human origin, likely of Chilean descent, and its genome harbors mutations in genes (COL1A1, COL2A1, KMT2D, FLNB, ATR, TRIP11, PCNT) previously linked with diseases of small stature, rib anomalies, cranial malformations, premature joint fusion, and osteochondrodysplasia (also known as skeletal dysplasia). Together, these findings provide a molecular characterization of Ata’s peculiar phenotype, which likely results from multiple known and novel putative gene mutations affecting bone development and ossification.<\/p><\/blockquote>\n

Figure 1 from the paper:<\/p>\n

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\"\"You will read here and there on the internet that this individual’s body was likely deposited within the last 50 years.<\/p>\n

However, that “fact” is itself a deletion style mutation. Somewhere along the line a zero was deleted from the number “500” in the original report. While this mutation is not as interesting as the mutations that led to the odd development of this unfortunate person, it is fully ironic.<\/p>\n

The original paper is open source, and available HERE<\/a>, which is why I’m not spending a lot of time in this post explaining the details. You can read it yourself!<\/p>\n

Also, there’s a movie from 2013.<\/p>\n