4 beneficial evolutionary mutations that humans are undergoing right now

The genetic mutation that drives evolution is random. But here's a list of some beneficial mutations that are known to exist in human beings

Most random genetic changes caused by evolution are neutral, and some are harmful, but a few turn out to be positive improvements. These beneficial mutations are the raw material that may, in time, be taken up by natural selection and spread through the population. In this post, I'll list some examples of beneficial mutations that are known to exist in human beings.


Beneficial mutation #1: Apolipoprotein AI-Milano

Heart disease is one of the scourges of industrialized countries. It's the legacy of an evolutionary past which programmed us to crave energy-dense fats, once a rare and valuable source of calories, now a source of clogged arteries. But there's evidence that evolution has the potential to deal with it.

All humans have a gene for a protein called Apolipoprotein AI, which is part of the system that transports cholesterol through the bloodstream. Apo-AI is one of the HDLs, already known to be beneficial because they remove cholesterol from artery walls. But a small community in Italy is known to have a mutant version of this protein, named Apolipoprotein AI-Milano, or Apo-AIM for short. Apo-AIM is even more effective than Apo-AI at removing cholesterol from cells and dissolving arterial plaques, and additionally functions as an antioxidant, preventing some of the damage from inflammation that normally occurs in arteriosclerosis. People with the Apo-AIM gene have significantly lower levels of risk than the general population for heart attack and stroke, and pharmaceutical companies are looking into marketing an artificial version of the protein as a cardioprotective drug.

There are also drugs in the pipeline based on a different mutation, in a gene called PCSK9, which has a similar effect. People with this mutation have as much as an 88% lower risk of heart disease.

Beneficial mutation #2: Increased bone density

One of the genes that governs bone density in human beings is called low-density lipoprotein receptor-related protein 5, or LRP5 for short. Mutations which impair the function of LRP5 are known to cause osteoporosis. But a different kind of mutation can amplify its function, causing one of the most unusual human mutations known.

This mutation was first discovered fortuitously, when a young person from a Midwest family was in a serious car crash from which they walked away with no broken bones. X-rays found that they, as well as other members of the same family, had bones significantly stronger and denser than average. (One doctor who's studied the condition said, "None of those people, ranging in age from 3 to 93, had ever had a broken bone.") In fact, they seem resistant not just to injury, but to normal age-related skeletal degeneration. Some of them have benign bony growths on the roof of their mouths, but other than that, the condition has no side effects - although, as the article notes dryly, it does make it more difficult to float. As with Apo-AIM, some drug companies are researching how to use this as the basis for a therapy that could help people with osteoporosis and other skeletal diseases.

Beneficial mutation #3: Malaria resistance

The classic example of evolutionary change in humans is the hemoglobin mutation named HbS that makes red blood cells take on a curved, sickle-like shape. With one copy, it confers resistance to malaria, but with two copies, it causes the illness of sickle-cell anemia. This is not about that mutation.

As reported in 2001 (see also), Italian researchers studying the population of the African country of Burkina Faso found a protective effect associated with a different variant of hemoglobin, named HbC. People with just one copy of this gene are 29% less likely to get malaria, while people with two copies enjoy a 93% reduction in risk. And this gene variant causes, at worst, a mild anemia, nowhere near as debilitating as sickle-cell disease.

Beneficial mutation #4: Tetrachromatic vision

Most mammals have poor color vision because they have only two kinds of cones, the retinal cells that discriminate different colors of light. Humans, like other primates, have three kinds, the legacy of a past where good color vision for finding ripe, brightly colored fruit was a survival advantage.

The gene for one kind of cone, which responds most strongly to blue, is found on chromosome 7. The two other kinds, which are sensitive to red and green, are both on the X chromosome. Since men have only one X, a mutation which disables either the red or the green gene will produce red-green colorblindness, while women have a backup copy. This explains why this is almost exclusively a male condition.

But here's a question: What happens if a mutation to the red or the green gene, rather than disabling it, shifts the range of colors to which it responds? (The red and green genes arose in just this way, from duplication and divergence of a single ancestral cone gene.)

To a man, this would make no real difference. He'd still have three color receptors, just a different set than the rest of us. But if this happened to one of a woman's cone genes, she'd have the blue, the red and the green on one X chromosome, and a mutated fourth one on the other... which means she'd have four different color receptors. She would be, like birds and turtles, a natural "tetrachromat", theoretically capable of discriminating shades of color the rest of us can't tell apart. (Does this mean she'd see brand-new colors the rest of us could never experience? That's an open question.)

And we have evidence that just this has happened on rare occasions. In one study of color discrimination, at least one woman showed exactly the results we would expect from a true tetrachromat.

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The 'People Map of the United States' zooms in on America's obsession with celebrity

Image: The Pudding
Strange Maps
  • Replace city names with those of their most famous residents
  • And you get a peculiar map of America's obsession with celebrity
  • If you seek fame, become an actor, musician or athlete rather than a politician, entrepreneur or scientist

Chicagoland is Obamaland

Image: The Pudding

Chicagoland's celebrity constellation: dominated by Barack, but with plenty of room for the Belushis, Brandos and Capones of this world.

Seen from among the satellites, this map of the United States is populated by a remarkably diverse bunch of athletes, entertainers, entrepreneurs and other persons of repute (and disrepute).

The multitalented Dwayne Johnson, boxing legend Muhammad Ali and Apple co-founder Steve Jobs dominate the West Coast. Right down the middle, we find actors Chris Pratt and Jason Momoa, singer Elvis Presley and basketball player Shaquille O'Neal. The East Coast crew include wrestler John Cena, whistle-blower Edward Snowden, mass murderer Ted Bundy… and Dwayne Johnson, again.

The Rock pops up in both Hayward, CA and Southwest Ranches, FL, but he's not the only one to appear twice on the map. Wild West legend Wyatt Earp makes an appearance in both Deadwood, SD and Dodge City, KS.

How is that? This 'People's Map of the United States' replaces the names of cities with those of "their most Wikipedia'ed resident: people born in, lived in, or connected to a place."

‘Cincinnati, Birthplace of Charles Manson'

Image: The Pudding

Keys to the city, or lock 'em up and throw away the key? A city's most famous sons and daughters of a city aren't always the most favoured ones.

That definition allows people to appear in more than one locality. Dwayne Johnson was born in Hayward, has one of his houses in Southwest Ranches, and is famous enough to be the 'most Wikipedia'ed resident' for both localities.

Wyatt Earp was born in Monmouth, IL, but his reputation is closely associated with both Deadwood and Dodge City – although he's most famous for the Gunfight at the O.K. Corral, which took place in Tombstone, AZ. And yes, if you zoom in on that town in southern Arizona, there's Mr Earp again.

The data for this map was collected via the Wikipedia API (application programming interface) from the English-language Wikipedia for the period from July 2015 to May 2019.

The thousands of 'Notable People' sections in Wikipedia entries for cities and other places in the U.S. were scrubbed for the person with the most pageviews. No distinction was made between places of birth, residence or death. As the developers note, "people can 'be from' multiple places".

Pageviews are an impartial indicator of interest – it doesn't matter whether your claim to fame is horrific or honorific. As a result, this map provides a non-judgmental overview of America's obsession with celebrity.

Royals and (other) mortals

Image: The Pudding

There's also a UK version of the People Map – filled with last names like Neeson, Sheeran, Darwin and Churchill – and a few first names of monarchs.

Celebrity, it is often argued, is our age's version of the Greek pantheon, populated by dozens of major gods and thousands of minor ones, each an example of behaviours to emulate or avoid. This constellation of stars, famous and infamous, is more than a map of names. It's a window into America's soul.

But don't let that put you off. Zooming in on the map is entertaining enough: celebrities floating around in the ether are suddenly tied down to a pedestrian level, and to real geography. And it's fun to see the famous and the infamous rub shoulders, as it were.

Barack Obama owns Chicago, but the suburbs to the west of the city are dotted with a panoply of personalities, ranging from the criminal (Al Capone, Cicero) and the musical (John Prine, Maywood) to figures literary (Jonathan Franzen, Western Springs) and painterly (Ivan Albright, Warrenville), actorial (Harrison Ford, Park Ridge) and political (Eugene V. Debs, Elmhurst).

Freaks and angels

Image: Dorothy

The People Map of the U.S. was inspired by the U.S.A. Song Map, substituting song titles for place names.

It would be interesting to compare 'the most Wikipedia'ed' sons and daughters of America's cities with the ones advertised at the city limits. When you're entering Aberdeen, WA, a sign invites you to 'come as you are', in homage to its most famous son, Kurt Cobain. It's a safe bet that Indian Hill, OH will make sure you know Neil Armstrong, first man on the moon, was one of theirs. But it's highly unlikely that Cincinnati, a bit further south, will make any noise about Charles Manson, local boy done bad.

Inevitably, the map also reveals some bitterly ironic neighbours, such as Ishi, the last of the Yahi tribe, captured near Oroville, CA. He died in 1916 as "the last wild Indian in North America". The most 'pageviewed' resident of nearby Colusa, CA is Byron de la Beckwith, Jr., the white supremacist convicted for the murder of Civil Rights activist Medgar Evers.

As a sampling of America's interests, this map teaches that those aiming for fame would do better to become actors, musicians or athletes rather than politicians, entrepreneurs or scientists. But also that celebrity is not limited to the big city lights of LA or New York. Even in deepest Dakota or flattest Kansas, the footlights of fame will find you. Whether that's good or bad? The pageviews don't judge...

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Image: Abel Suyok
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