Chapter 2: Our Shallow Gene Pool

Chapter 1 explained why we shouldnโ€™t expect much evolutionary diversification since the last human common ancestor. And yet, if you look at humans from around the world, youโ€™ll see body parts in a variety of colors and shapes:

๐Ÿ’ช๐Ÿฟ๐Ÿ’‡๐Ÿปโ€โ™€๏ธ๐Ÿ‘‚๐Ÿพ๐Ÿฆถ๐Ÿป๐Ÿ’‹๐Ÿ’ช๐Ÿป๐Ÿคš๐Ÿพ๐Ÿ‘ƒ๐Ÿผ๐Ÿ’‡๐Ÿผโ€โ™‚๏ธ๐Ÿ‘‚๐Ÿฝ๐Ÿ’…๐Ÿป๐Ÿฆต๐Ÿพ๐Ÿ‘ฃ๐Ÿฆต๐Ÿผ๐Ÿ‘ƒ๐Ÿฟ๐Ÿ‘„

Disembodied diversity


One often hears comments about the richness of human diversity. But interestingly enough, our species actually has relatively little genetic diversity.

๐Ÿ‘จ๐Ÿฝ๐Ÿ‘ถ๐Ÿฟ๐Ÿ‘ฑ๐Ÿฟโ€โ™€๏ธ๐Ÿ‘ง๐Ÿพ๐Ÿ‘จ๐Ÿผ๐Ÿ‘ฉ๐Ÿพ๐Ÿ‘ฆ๐Ÿฝ๐Ÿ‘ต๐Ÿพ๐Ÿ‘ถ๐Ÿป๐Ÿ‘ฉ๐Ÿป๐Ÿ‘ฑ๐Ÿปโ€โ™€๏ธ๐Ÿ‘ฆ๐Ÿฟ๐Ÿ‘ง๐Ÿฝ๐Ÿ‘ด๐Ÿฟ<๐Ÿฐ

A typical non-human species harbors more genetic diversity than humans do


To demonstrate this, imagine choosing any gene from your genome. You have two copies of it, one from your dad and one from your mom, so pick one at random. Do the same for another human with a different racial background. Compare their DNA with your own. Youโ€™ll see a few differences. But youโ€™d see even more differences between the two copies that exist side-by-side within one individual rabbit, gibbon, or sparrow. People are genetic paupers. We have less total biodiversity than most other animals(Leffler et al. 2012).

Genetic diversity per species:

0.0000

0.0005๐Ÿฆฆ

0.0010๐Ÿง‘

0.0015๐Ÿผ๐Ÿฆ๐Ÿบ๐Ÿ˜๐ŸŒต

0.0020๐Ÿธ๐Ÿ—๐Ÿƒ

0.0025๐Ÿ’

0.0030๐Ÿฆง

0.0035๐Ÿ•ท๏ธ๐Ÿฆ

0.0040๐Ÿ๐Ÿ‹๐Ÿฆ†๐Ÿก๐ŸŒฒ

.

.

.

0.0060๐ŸฆŽ

0.0065๐Ÿฆ

.

.

.

0.0085๐Ÿฐ๐Ÿ

0.0090๐Ÿฆ—

.

0.0100๐ŸŒณ

.

.

.

.

.

0.0130๐Ÿฆ‚

.

0.0140๐ŸฆŸ

.

.

.

.

.

.

.

.

.

.

.

0.0200๐Ÿฆ‹

.

.

.

0.0220๐ŸŒป

The reason for our dearth of diversity lies in our history. Our species appeared quite recently, initially as only a few thousand individuals. We have since expanded into the billions, but there hasnโ€™t been enough time for new mutations to spread and reflect our new global ubiquity. Genetically, we still look like a rare species(1000 Genomes Project Consortium 2015). And if there is little genetic variation in our species as a whole, there it is little that can be partitioned out among humans in different places.

๐Ÿ‘ฅ๐Ÿ‘ฅ๐Ÿ‘ฅโ†’๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ๐Ÿ™๏ธ

We quickly went from a few scattered people to a swarm of enormous cities


However, letโ€™s not oversimplify things. Overall, two copies of a chromosome chosen at random from two humans will be 99.9% the same and 0.1% different. But what does that mean? A single mutation could have no effect, or it could mean the difference between life and death. So, there is no straightforward connection between variation in DNA sequences and variation in traits we can actually see.

๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ๐ŸฆŸ

Even with high genetic diversity, every member of a species could look the same


What, then, does it mean for a species to have a lot of biodiversity? Consider, for example, the common side-blotched lizard from western North America. This is a single species, but among these lizards are several โ€œmorphsโ€ the look and act differently(Corl et al. 2010). Orange-throated males guard large harems of several females. Blue-throated males are monogamous and guard a single mate. Yellow-throated males sneak into the territories of orange-throated males and mate with the females there, but forego such trysts with the ever-guarded mates of the blue throats. Meanwhile, orange-throated females produce many small eggs, yellow-throated females produce a few large eggs, and there are no blue-throated females. Most populations include all three colors, but some have just one or two. These ratios vary with geography, and along with other genetic differences they divide the lizards into several โ€œsubspecies.โ€

๐ŸŸ ๐ŸฆŽย ๐Ÿ†šย ๐ŸŸก๐ŸฆŽย ๐Ÿ†šย ๐Ÿ”ต๐ŸฆŽ

There are many other species with similarly mind-blowing diversity. The Numata longwing is a South American butterfly that comes in seven forms, each with a completely different pattern of orange, yellow, and black pigment on its wings. If you didnโ€™t know better youโ€™d assume they were separate species, and in fact they have each evolved to mimic a different poisonous butterfly(Joron et al. 2011). Steelhead and rainbow trout are actually the same fish species. The former is more than twice as large and migrates to the sea to hunt, while the latter maintains a more laid-back lifestyle in the watershed of its birth. Woodland strawberries have distinct subspecies with totally different sexual systems: one includes females, while the other consists entirely of hermaphrodites(Staudt 1989). In these animals and plants, the different morphs or subspecies each have their own ecological roles and adaptive strategies.

๐ŸฆŽ๐Ÿฆ‹๐ŸŸ๐Ÿ“๐Ÿšท

Species with outstanding biodiversity. Humans need not apply.


It should be obvious that human biodiversity pales in comparison. People practice different strategies for finding mates, but these are influenced culturally, not genetically. Unlike the lizards, a person of any genotype could grow up to be a celibate, a monogamous spouse, or a polygamist.

๐Ÿ‘จ๐Ÿฝย ๐Ÿ†šย ๐Ÿคต๐Ÿฝ๐Ÿ‘ฐ๐Ÿปย ๐Ÿ†šย ๐Ÿ‘ฏโ€โ™€๏ธ๐Ÿ•บ๐Ÿฝ๐Ÿ‘ฏโ€โ™€๏ธ

Your ancestry doesnโ€™t define your lifestyle


Furthermore, even if prehistoric humans like Homo erectus were still around, you would have no trouble sorting out Homo sapiens from any other species, as you might with the longwing butterflies. Human populations may vary, but we donโ€™t differ in what kind of fluid we are able to breathe, like freshwater versus saltwater fish. Nor in the presence or absence of an entire sexual organ, as in strawberries. For these reasons, humans are not classified into morphs, subspecies, or breeds(Norton et al. 2019). There is one standard type of human, with minor customizable flourishes.

๐Ÿš™๐Ÿš™๐Ÿš—๐Ÿš•๐Ÿš•๐Ÿš™๐Ÿš™๐Ÿš—๐Ÿš—๐Ÿš—๐Ÿš•

๐Ÿ†š

๐Ÿš™๐Ÿš•๐ŸŽ๏ธ๐Ÿš“๐Ÿšœ๐Ÿ›บ๐Ÿš—๐Ÿš๐Ÿš‘๐Ÿšš๐Ÿš›

Some variety (top), but not as much as there could be (bottom)


To be clear, the variation we do possess is not distributed equally around the world. Humanity is not homogeneous. If you send a geneticist your DNA, they could get a pretty good estimate of where your recent ancestors lived. If you showed those ancestry estimates to someone else, they could make a few general predictions about your overall physical appearance.

๐Ÿ‡ฏ๐Ÿ‡ต๐Ÿ‡ฒ๐Ÿ‡ฝ๐Ÿ‡ฟ๐Ÿ‡ผ๐Ÿ‡ต๐Ÿ‡ผ๐Ÿ‡ช๐Ÿ‡ธ๐Ÿ‡ฎ๐Ÿ‡ณ๐Ÿ‡ฒ๐Ÿ‡ฌ๐Ÿ‡ง๐Ÿ‡ท๐Ÿ‡ฎ๐Ÿ‡ฉ๐Ÿ‡ฎ๐Ÿ‡ธ๐Ÿ‡ฆ๐Ÿ‡น๐Ÿ‡ฌ๐Ÿ‡ฆ๐Ÿ‡ธ๐Ÿ‡ฆ๐Ÿ‡ป๐Ÿ‡ณ

Thereโ€™s no perfect match between your DNA and your ancestorsโ€™ nationalities, but there are correlations


But DNA is not cleanly partitioned by homeland. Remember the archipelagos. Populations geneticists often make plots of individuals that actually look a lot like islands in an ocean. However, these plots are easy to misinterpret. There is no literal ocean or any other geographical space. Positions on the plot are defined by multivariate statistics. Genetically similar individuals cluster together. Consider the following classic principal component analysis (PCA), for example(Lรณpez Herrรกez et al. 2009).

PCA

Studies like this donโ€™t randomly sample humans across the globe. They typically target people belonging to several pre-defined groups from different geographic locations (as in Pima, Miaozu, Yoruba, etc. above). This isnโ€™t necessarily a fault of the study, but it can make the borders between groups look really stark, more so than they are in reality. A common misconception is that there are โ€œpureโ€ populations like the ones in the figure, and then some individuals like Barack Obama are โ€œhybridsโ€ between these populations.

โฌ›โฌ›โฌ›โฌ›โฌ›ย ย โ†’ย ย ๐Ÿ”ฒย ย โ†ย ย โฌœโฌœโฌœโฌœโฌœ

A hybrid of two pure populations: not a useful way to think about human genetics


In reality, human populations have been mixing and remixing since the dawn of our species. Every โ€œpureโ€ population is really descended from two or more other populations that used to be separate, which themselves have a mixed ancestry, and so on(Reich et al. 2018). We are all admixed.

๐Ÿฅ˜๐Ÿฅ˜๐Ÿฅ˜๐Ÿฅ˜๐Ÿฅ˜ย ย โ†’ย ย ๐Ÿฒย ย โ†ย ย ๐Ÿœ๐Ÿœ๐Ÿœ๐Ÿœ๐Ÿœ

A stew of mixed ingredients plus another stew of mixed ingredients yields an especially mixed stew


More importantly, images like the PCA above are meant to highlight subtle dissimilarities by turning the contrast up to eleven. They doesnโ€™t say anything about the size of the differences among those ancestry groups. As an analogy, consider the following ten bags of groceries, each with twenty items:

Bag A:

๐Ÿช๐ŸŽ‚๐Ÿฅ๐ŸŒฝ๐Ÿฅ’๐Ÿ‡๐Ÿ๐Ÿ‘๐Ÿฉ๐Ÿ“

๐Ÿ‰๐ŸŠ๐ŸŒ๐Ÿฅ“๐Ÿฅ•๐Ÿฅ–๐Ÿฅœ๐Ÿฅฆ๐Ÿฅ”๐Ÿฅš

Bag B:

๐Ÿง€๐Ÿฅจ๐Ÿฅง๐Ÿฅฅ๐Ÿฅ๐Ÿฅš๐Ÿ ๐Ÿ—๐Ÿ๐Ÿ

๐ŸŠ๐Ÿ‡๐Ÿฅ•๐Ÿฅ”๐Ÿ“๐Ÿฅ’๐Ÿฅ๐ŸŒฝ๐ŸŽ๐Ÿฉ

Bag C:

๐ŸŒถ๏ธ๐ŸŒฝ๐Ÿ‡๐Ÿ’๐Ÿ—๐Ÿž๐Ÿฌ๐Ÿ“๐Ÿฅ“๐Ÿฅ•

๐Ÿฅ–๐Ÿ‰๐Ÿ‹๐ŸŒ๐Ÿ๐Ÿฅœ๐Ÿฅ๐Ÿฅฆ๐Ÿ ๐ŸŠ

Bag D:

๐Ÿฅฅ๐Ÿฅฆ๐Ÿ๐Ÿฅ–๐ŸŒฝ๐Ÿซ๐Ÿช๐Ÿค๐Ÿ๐ŸŒ

๐Ÿ‹๐Ÿ“๐ŸŒถ๏ธ๐Ÿง€๐Ÿฅ”๐Ÿฅ๐Ÿ ๐Ÿ—๐ŸŽ๐Ÿ‡

Bag E:

๐ŸŒ๐Ÿ๐Ÿ‹๐Ÿ‘๐Ÿฅ–๐Ÿฅฅ๐Ÿ“๐Ÿฅ‘๐Ÿช๐Ÿ‰

๐Ÿฅ•๐Ÿฅ”๐Ÿ ๐Ÿฅฆ๐Ÿฅ“๐Ÿง€๐Ÿ๐Ÿž๐Ÿฅš๐ŸŽ‚

Bag F:

๐Ÿ ๐Ÿž๐Ÿฅš๐Ÿฅ๐Ÿฅ”๐Ÿ†๐Ÿฅฆ๐Ÿ๐Ÿฅ“๐ŸŒ

๐Ÿ๐Ÿช๐Ÿ“๐Ÿฅจ๐Ÿฌ๐ŸŠ๐ŸŽ๐ŸŒฝ๐Ÿฅฅ๐Ÿฅœ

Bag G:

๐Ÿ†๐Ÿ‹๐Ÿ๐ŸŽ๐Ÿ๐Ÿฅ”๐Ÿฅ•๐Ÿฅœ๐Ÿฅฆ๐Ÿฅง

๐Ÿฅจ๐Ÿ‘๐Ÿ ๐Ÿค๐Ÿฉ๐Ÿ“๐Ÿช๐Ÿฅ๐Ÿ๐Ÿง€

Bag H:

๐Ÿฅ•๐Ÿ๐Ÿช๐Ÿ‰๐Ÿฉ๐Ÿ๐ŸŠ๐Ÿ…๐ŸŒฝ๐Ÿฅ”

๐Ÿ ๐Ÿฅœ๐ŸŽ‚๐ŸŽ๐Ÿ“๐Ÿ’๐Ÿฅ–๐Ÿฅš๐Ÿค๐Ÿž

Bag I:

๐ŸŒฝ๐Ÿฅจ๐Ÿ‡๐Ÿ‰๐ŸŒ๐Ÿ’๐Ÿ—๐Ÿž๐Ÿ“๐Ÿค

๐Ÿฉ๐Ÿฅ•๐Ÿฅฆ๐Ÿซ๐Ÿฅ‘๐Ÿ‹๐ŸŽ๐Ÿ‘๐Ÿ ๐Ÿง€

Bag J:

๐Ÿฅ๐Ÿฅ”๐Ÿ“๐Ÿฅง๐ŸŒฝ๐Ÿ‰๐Ÿ’๐Ÿฉ๐Ÿฅฆ๐Ÿฅจ

๐Ÿ—๐Ÿ‡๐Ÿ…๐ŸŠ๐Ÿฅ“๐Ÿฅ๐Ÿ๐Ÿค๐Ÿ‹๐Ÿฅ•

Ten grocery bags that were randomly packed. Or were they?


Just by looking at their contents, could you easily classify the bags into distinct categories? Probably not. Or if you did it would be arbitrary. You wouldnโ€™t expect other people to make the same decisions. All the bags seem to contain a fairly random assortment of items. However, a computer algorithm could readily detect nuanced patterns and place the bags into clear groups. Hereโ€™s a PCA. The first axis explains 16% of the variation among bags. A, E, F, H, and (to a lesser extent) C all seemingly share something.

Grocery PCA

If you only saw the PCA result, you might assume an absolute gulf between the left and right sides. However, youโ€™d be wrong. The right-side bags often (but not always) have certain groceries, like bananas and eggs, that are usually (but not always) absent from the left-side bags. And vice versa. Thatโ€™s it. Those gradients are enough to separate them, but in the overall chaos of snacks and entrรฉes, itโ€™s hardly a noteworthy difference. Same with people. We can cluster people based on traits, but that doesnโ€™t mean weโ€™re revealing some essential distinctiveness. In fact, people are even more similar than that, because 99.9% of DNA is the same. It would be like we also added an identical set of 20,000 groceries to each bag, and the only thing unique about each bag were the 20 groceries shown above.

โž•๐ŸŒ๐Ÿฅช๐ŸŽ๐Ÿ๐Ÿ‡๐Ÿฟ๐Ÿฉ๐Ÿ‹๐Ÿ’๐Ÿ‘๐Ÿ ๐Ÿฅญ๐Ÿฅœ๐Ÿž๐Ÿฅ“๐Ÿฅ–๐Ÿฅš๐Ÿฅ๐Ÿฅจ๐Ÿฅง๐Ÿค๐Ÿง€๐Ÿ—๐Ÿฌ๐Ÿซ๐Ÿฅซ๐ŸŽ‚๐Ÿช๐Ÿ‰๐ŸŠ๐Ÿ“๐Ÿ•๐ŸŒฎ๐Ÿ…๐Ÿฅ‘๐Ÿ†๐ŸŒถ๏ธ๐Ÿฅ’๐Ÿฅฆ๐Ÿ’๐Ÿฅ”๐Ÿฅš๐Ÿซ๐Ÿฅฆ๐Ÿช๐Ÿ‰๐Ÿฅ๐Ÿฅ“๐Ÿญ๐Ÿˆ๐ŸฅŸ๐ŸŒถ๏ธ๐Ÿฅ–๐Ÿฅจ๐Ÿฅ๐Ÿž๐ŸŠ๐Ÿ…๐Ÿฅง๐Ÿฟ๐ŸŽ‚๐Ÿฅ‘๐Ÿ†๐Ÿฅ’๐ŸŒ๐Ÿฅช๐Ÿ‘๐ŸŒฝ๐Ÿ๐Ÿฅฅ๐Ÿ‡๐Ÿฅญ๐Ÿฌ๐Ÿฅซ๐Ÿฅ‘๐Ÿฉ๐Ÿ‹๐Ÿค๐Ÿง€๐Ÿ๐Ÿฅง๐Ÿญ๐Ÿˆ๐Ÿ๐Ÿฅœ๐Ÿ๐Ÿ“๐Ÿ•๐ŸŒฎ๐Ÿฅ•๐Ÿฅง๐Ÿ—๐Ÿ ๐Ÿ๐Ÿฅฅ๐Ÿฅ๐ŸฅŸ๐ŸŒฝ๐Ÿฅ•๐Ÿฅ”โ€ฆ (x 200)

Thatโ€™s a really big grocery bag


For most genes, diversity within our species and divergence among populations is neither large nor meaningful. But is that true for every gene? Chapter 3 will explore whether and how some genes may impact important traits that vary among populations.