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.
From the abstract:
Over a decade ago, the Atacama humanoid skeleton (Ata) was discovered in the Atacama region of Chile. The Ata specimen carried a strange phenotype—6-in stature, fewer than expected ribs, elongated cranium, and accelerated bone age—leading 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 6–8 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× 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.
Figure 1 from the paper:
You will read here and there on the internet that this individual’s body was likely deposited within the last 50 years.
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.
The original paper is open source, and available HERE, which is why I’m not spending a lot of time in this post explaining the details. You can read it yourself!
Also, there’s a movie from 2013.
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Well it sure shows the number of mutations and amount of variablility that can be incorporated into a human genome and what a surprisingly long life span considering all that happened to her.
Everything is human that’s obvious
My most burning question is this: Did this individual have language, and did she speak?
How was she viewed by parents and others?
6 inches! Say 150mm.
Any estimates of birth weight and size?
And weight and size at say 18 months?
Is it reasonable to assume breast feeding issues? Crawling/walking issues?
Domestic pet issues? I know several very tame dogs that would still likely attempt to maul such a child.
Really very extraordinary and sad too.
Id be curious to know the next nearest documented outlier in height of a 7 year old.
Hmmm…
The authors conclude that the mutations presented here “may explain Ata’s small stature, inappropriate rib count, abnormal cranial features, and perceived advanced bone age. Given the size of the specimen and the severity of the mutations de-scribed above, it seems likely the specimen was a preterm birth.
Although we can only speculate as to the cause for multiple mutations in Ata’s genome, the specimen was found in La Noria, one of the Atacama Desert’s many abandoned nitrate mining towns, which suggests a possible role for prenatal nitrate exposure leading to DNA damage (Andreassi et al. 2001).”
Thus, a female foetus with a severe progeria, among other defects. No language, no nursing problems, no survival for seven years. And for its “antiquity”: she has more than 25 % of European genes, and nitrate mining in Atacama is less than 200 years old. So 500 years seem rather unlikely.
If this humanoid does turn out to be human, it’ll challenge contemporary ideas of what it means to be human and what constitutes personhood. But there are just too many questions surrounding this issue. How can this be so small yet have the age of a 6-8 year old? What is with the remaining 9% of genetic DNA that has no match? What do the other examples of this type of mutation reveal?