๐ช๐ฟ๐๐ปโโ๏ธ๐๐พ๐ฆถ๐ป๐๐ช๐ป๐ค๐พ๐๐ผ๐๐ผโโ๏ธ๐๐ฝ๐ ๐ป๐ฆต๐พ๐ฃ๐ฆต๐ผ๐๐ฟ๐
Disembodied diversity
One often hears comments about the richness of human diversity. But interestingly enough, our species actually has relatively little genetic diversity.
๐จ๐ฝ๐ถ๐ฟ๐ฑ๐ฟโโ๏ธ๐ง๐พ๐จ๐ผ๐ฉ๐พ๐ฆ๐ฝ๐ต๐พ๐ถ๐ป๐ฉ๐ป๐ฑ๐ปโโ๏ธ๐ฆ๐ฟ๐ง๐ฝ๐ด๐ฟ<๐ฐ
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. Youโll see a few differences. But youโd 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
0.0005๐ฆฆ
0.0010๐ง
0.0015๐ผ๐ฆ๐บ๐๐ต
0.0020๐ธ๐๐
0.0025๐
0.0030๐ฆง
0.0035๐ท๏ธ๐ฆ
0.0040๐๐๐ฆ๐ก๐ฒ
.
.
.
0.0060๐ฆ
0.0065๐ฆ
.
.
.
0.0085๐ฐ๐
0.0090๐ฆ
.
0.0100๐ณ
.
.
.
.
.
0.0130๐ฆ
.
0.0140๐ฆ
.
.
.
.
.
.
.
.
.
.
.
0.0200๐ฆ
.
.
.
0.0220๐ป
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 hasnโt 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.๐ฅ๐ฅ๐ฅโ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ๐๏ธ
We quickly went from a few scattered people to a swarm of enormous cities
However, letโs 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.
๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ๐ฆ
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 โmorphsโ 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 โsubspecies.โ
๐ ๐ฆย ๐ย ๐ก๐ฆย ๐ย ๐ต๐ฆ
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 didnโt know better youโd 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.๐ฆ๐ฆ๐๐๐ท
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.
๐จ๐ฝย ๐ย ๐คต๐ฝ๐ฐ๐ปย ๐ย ๐ฏโโ๏ธ๐บ๐ฝ๐ฏโโ๏ธ
Your ancestry doesnโt 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 donโt 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.
๐๐๐๐๐๐๐๐๐๐๐
๐
๐๐๐๏ธ๐๐๐บ๐๐๐๐๐
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.
๐ฏ๐ต๐ฒ๐ฝ๐ฟ๐ผ๐ต๐ผ๐ช๐ธ๐ฎ๐ณ๐ฒ๐ฌ๐ง๐ท๐ฎ๐ฉ๐ฎ๐ธ๐ฆ๐น๐ฌ๐ฆ๐ธ๐ฆ๐ป๐ณ
Thereโs 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).
Studies like this donโt 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 isnโt 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 โpureโ populations like the ones in the figure, and then some individuals like Barack Obama are โhybridsโ between these populations.
โฌโฌโฌโฌโฌย ย โย ย ๐ฒย ย โย ย โฌโฌโฌโฌโฌ
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 โpureโ 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.
๐ฅ๐ฅ๐ฅ๐ฅ๐ฅย ย โย ย ๐ฒย ย โย ย ๐๐๐๐๐
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 doesnโt 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:
๐ช๐๐ฅ๐ฝ๐ฅ๐๐๐๐ฉ๐
๐๐๐๐ฅ๐ฅ๐ฅ๐ฅ๐ฅฆ๐ฅ๐ฅ
Bag B:
๐ง๐ฅจ๐ฅง๐ฅฅ๐ฅ๐ฅ๐ ๐๐๐
๐๐๐ฅ๐ฅ๐๐ฅ๐ฅ๐ฝ๐๐ฉ
Bag C:
๐ถ๏ธ๐ฝ๐๐๐๐๐ฌ๐๐ฅ๐ฅ
๐ฅ๐๐๐๐๐ฅ๐ฅ๐ฅฆ๐ ๐
Bag D:
๐ฅฅ๐ฅฆ๐๐ฅ๐ฝ๐ซ๐ช๐ค๐๐
๐๐๐ถ๏ธ๐ง๐ฅ๐ฅ๐ ๐๐๐
Bag E:
๐๐๐๐๐ฅ๐ฅฅ๐๐ฅ๐ช๐
๐ฅ๐ฅ๐ ๐ฅฆ๐ฅ๐ง๐๐๐ฅ๐
Bag F:
๐ ๐๐ฅ๐ฅ๐ฅ๐๐ฅฆ๐๐ฅ๐
๐๐ช๐๐ฅจ๐ฌ๐๐๐ฝ๐ฅฅ๐ฅ
Bag G:
๐๐๐๐๐๐ฅ๐ฅ๐ฅ๐ฅฆ๐ฅง
๐ฅจ๐๐ ๐ค๐ฉ๐๐ช๐ฅ๐๐ง
Bag H:
๐ฅ๐๐ช๐๐ฉ๐๐๐ ๐ฝ๐ฅ
๐ ๐ฅ๐๐๐๐๐ฅ๐ฅ๐ค๐
Bag I:
๐ฝ๐ฅจ๐๐๐๐๐๐๐๐ค
๐ฉ๐ฅ๐ฅฆ๐ซ๐ฅ๐๐๐๐ ๐ง
Bag J:
๐ฅ๐ฅ๐๐ฅง๐ฝ๐๐๐ฉ๐ฅฆ๐ฅจ
๐๐๐ ๐๐ฅ๐ฅ๐๐ค๐๐ฅ
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 wouldnโt 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. Hereโs 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.
If you only saw the PCA result, you might assume an absolute gulf between the left and right sides. However, youโd 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. Thatโs it. Those gradients are enough to separate them, but in the overall chaos of snacks and entrรฉes, itโs hardly a noteworthy difference. Same with people. We can cluster people based on traits, but that doesnโt mean weโre 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.
โ๐๐ฅช๐๐๐๐ฟ๐ฉ๐๐๐๐ ๐ฅญ๐ฅ๐๐ฅ๐ฅ๐ฅ๐ฅ๐ฅจ๐ฅง๐ค๐ง๐๐ฌ๐ซ๐ฅซ๐๐ช๐๐๐๐๐ฎ๐ ๐ฅ๐๐ถ๏ธ๐ฅ๐ฅฆ๐๐ฅ๐ฅ๐ซ๐ฅฆ๐ช๐๐ฅ๐ฅ๐ญ๐๐ฅ๐ถ๏ธ๐ฅ๐ฅจ๐ฅ๐๐๐ ๐ฅง๐ฟ๐๐ฅ๐๐ฅ๐๐ฅช๐๐ฝ๐๐ฅฅ๐๐ฅญ๐ฌ๐ฅซ๐ฅ๐ฉ๐๐ค๐ง๐๐ฅง๐ญ๐๐๐ฅ๐๐๐๐ฎ๐ฅ๐ฅง๐๐ ๐๐ฅฅ๐ฅ๐ฅ๐ฝ๐ฅ๐ฅโฆ (x 200)
Thatโs 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.