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Human Performance Anomalies: Real-World Examples

Genetic adaptations to breath-holding by the free-diving Bajau "Sea Nomads" of Southeast Asia


In 2018 researchers reported significant evidence of genetic selection for traits that facilitate breath-holding on dives to hunt seafood, the main food source for the Bajau people for thousands of years. Melissa Ilardo, Rasmus Nielsen, Eske Willerslev and colleagues found that "natural selection on genetic variants in the PDE10A gene have increased spleen size in the Bajau, providing them with a larger reservoir of oxygenated red blood cells." They also found evidence of selection for a variant of the gene BDKRB2, which is known to affect the human diving reflex. "The Bajau," they write, "and possibly other diving populations, provide a new opportunity to study human adaptation to hypoxia intolerance." -- a performance anomaly, indeed.













Tetrachromatic Vision in Humans: The First Example

Researchers have suspected that there may exist individuals with an extra color-sensitive retinal cone, beyond the normal complement of three in humans. And they hypothesized that such an individual (who must be a female because of the genetics underlying cones) would be able to perceive a range of colors not visible to other humans.

As described in Discover Magazine: "Over the course of two decades, Newcastle University neuroscientist Gabriele Jordan and her colleagues have been searching for people endowed with this super-vision. Two years ago, Jordan finally found one. A doctor living in northern England, referred to only as cDa29 in the literature, is the first tetrachromat known to science. She is almost surely not the last." Here's the link:

Short Sleepers and the hDEC2 Gene

Certain rare individuals not only get by on little sleep, but thrive on less than six hours per night. They are called short sleepers, and often have the additional traits of being energetic, upbeat and ambitious (Benjamin Franklin, Thomas Jefferson and Leonardo da Vinci may have been short sleepers). Recent research has linked this trait to a mutation of the hDEC2 gene, which encodes a transcriptional repressor, a protein that down-regulates certain other genes. Here are references from Science and The New York Times:

Pain Insensitivity

One of the physician-scientists who examined Cono mentions a newly discovered performance anomaly in the form of individuals who cannot feel pain, due to a rare gene disorder. One of the first cohorts of such individuals was identified in Pakistan, as described here:

A scientific analysis of one of the first-described variants of this phenomenon is found here:

And here is a recent case of a woman in Scotland with a novel gene mutation who lives almost pain-free:

Eero Mäntyranta and the EPO Receptor Mutation

Mäntyranta, a multiple-gold Olympian in cross-country skiing from Finland, was found to have a mutation in his gene for the erythropoietin receptor, resulting in overproduction of red blood cells, and thus greater oxygen-carrying capacity (a distinct advantage in an aerobic sport like cross-country skiing). He a had a very rare condition that might be called a "natural form of doping." Today, unnatural doping with EPO provides the same effect, and has become the scourge of sports like professional cycling. Here is the first research report on the genetics underlying Mäntyranta's performance anomaly:

Absolute (Perfect) Pitch

Investigations are underway to determine whether perfect pitch is attributable to certain genotypes. A predicating finding was that absolute pitch ability "is a discrete perceptual trait, not simply the one end of a continuous 'normal' distribution of pitch ability." So far, loci at chromosomes 8q, 7q, and 9p have been linked to absolute pitch, as described here:

Perfect Pitch and Human Genetics

Super Recognizers

A category of people who can recognize and remember faces with extreme accuracy is now being investigated, as described here:

Super recognizers are also helping to identify crime suspects, as described in this New York Times article about a constable in North London, England:

The Violinist's Thumb

A superb book by Sam Kean describes how genes play out in human behavior:

Look Critically at Claims of Extreme Anomalies

There are plenty of extreme outlier performances in sports (after all, that is the objective - to be better than one's competitors), but out-sized claims require critical examination:

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