Autism and the Neanderthal (and Denisovan and other apes) Connection

There is a cluster of genes that is found in Homo sapiens, but which is not found in any other ape, including Neanderthals. It turns out that the deletion of this segment (essentially, reversion of the genome to pre-Homo sapiens, at least in this section) can result in autism. They point out that

researchers determined that this structure, located at a region on chromosome 16 designated 16p11.2, first appeared in our ancestral genome about 280,000 years ago, shortly before modern humans, Homo sapiens, emerged. This organization is not seen in any other primate – not chimps, gorillas, orangutans nor the genomes of our closest relatives, the Neanderthals and Denisovans.

This certainly seems to support my contention that autism is in a real sense neotenous, at least if we consider retention “earlier traits” to be a form of neoteny. And given that it seems to result in a brain that is structurally more similar to a young child’s (2-4), it may be neotenous in the more traditional sense as well (especially if the cluster of genes in question are turned on during childhood development). While there is a great deal they do not know about this gene cluster, they determined that one gene produces a protein binds with another protein that “allows the cells to capture iron more efficiently and make it available to proteins that require it.”

“This ability to help humans to acquire and use this essential element early in life might confer a significant enough benefit to outweigh the risk of having some offspring with autism,” Eichler said.

As I’ve pointed out here and here calling autism a “risk” is shortchanging all of the positive contributions autistic people (and perhaps only autistic people could have) made to the human race.

3 thoughts on “Autism and the Neanderthal (and Denisovan and other apes) Connection

  1. We track about 1600 protein-coding genes involved in autism, ataxia, Down Syndrome, cerebral palsy, arthrogrypiosis and a few other spectra. In the 16 p11.2 region we find three genes associated with autism spectrum disabilities:(1) AUTS14A, (2) AUTS14B and (3) BCKDK. In that same region (4) different mutations of the STX1B gene are associated with ataxia and with epileptic seizures (5) the FUS gene is associated with ALS and (6) the IL4R gene is associated with asthma.

    Genes associated with autism spectrum elsewhere on chromosome 16:

    (7) TSC2 is associated with Tuberous sclerosis complex and is at p13.3

    (8) AARS is associated with EIEE = Epileptic encephalopathy early infantile and is at q22.1

    (9) ANKRD11 is associated with KBG Syndrome and is at q24.3

    While p11.2 is something of a hotspot, if one does not account for differences in length as measured
    by base pairs chromosome 16 has fewer genes (6) associated with autism than average (9)


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