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Origin: A Genetic History of the Americas

by Jennifer Raff

by Jennifer Raff

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two hours, <strong>the</strong> machine would cycle <strong>the</strong> temperature <strong>of</strong> <strong>the</strong> tubes,<br />

progressing from very hot to separate <strong>the</strong> DNA strands, to cooler, which<br />

allowed <strong>the</strong> primers to bind to <strong>the</strong> single stranded DNA, and <strong>the</strong>n gradually<br />

becoming warmer again to allow <strong>the</strong> regions bracketed by <strong>the</strong> primers to be<br />

copied. If <strong>the</strong>re was any DNA present, I should go from those few scraps <strong>of</strong><br />

broken strands to millions <strong>of</strong> copies by <strong>the</strong> late afternoon. It feels like a<br />

miracle every time it works.<br />

The PCR reaction serves two purposes: It screens for <strong>the</strong> presence or<br />

absence <strong>of</strong> DNA in <strong>the</strong> samples and negative controls, and it also provides<br />

<strong>the</strong> researcher with some preliminary information about this person’s<br />

maternal ancestors.<br />

Today I was targeting DNA from this ancient person’s mitochondrial<br />

genome. Mitochondrial DNA (mtDNA) is found within <strong>the</strong> small structures<br />

in living cells that make cellular energy. These structures have <strong>the</strong>ir own<br />

circular genomes, made up <strong>of</strong> just 16,569 DNA base pairs (7). Because we<br />

inherit our mitochondria only from our mo<strong>the</strong>rs (sperm doesn’t contribute<br />

any mitochondria during fertilization except in very rare cases),<br />

mitochondrial DNA lineages are a record <strong>of</strong> maternal ancestry. That is to<br />

say, your mitochondrial sequence is <strong>the</strong> same as your mo<strong>the</strong>r’s, and her<br />

mo<strong>the</strong>r’s and her mo<strong>the</strong>r’s. Not only does it provide this record, but regions<br />

<strong>of</strong> <strong>the</strong> mitochondrial genome also accumulate DNA changes slightly faster<br />

than <strong>the</strong> nuclear genome, making it a sensitive and accurate witness to<br />

recent evolutionary events. The gradual accrual <strong>of</strong> <strong>the</strong>se changes is a sort <strong>of</strong><br />

metronomic tick on a millennial timescale.<br />

More ancient DNA studies have been done on mitochondrial DNA than<br />

on any o<strong>the</strong>r part <strong>of</strong> our genomes, because <strong>the</strong>re are hundreds to thousands<br />

<strong>of</strong> mitochondria within each <strong>of</strong> our cells (as compared to just two <strong>of</strong> each<br />

chromosome). Mitochondrial DNA is thus much more likely to be<br />

recovered from ancient bones or tissue than nuclear DNA, which only has<br />

two copies per cell.<br />

Mitochondrial DNA has taught us a tremendous amount about human<br />

history. But unfortunately, its strengths are linked to limitations. Because<br />

it’s exclusively maternally inherited, this genome provides only a tiny<br />

glimpse <strong>of</strong> an individual’s ancestry. You can, for example, test <strong>the</strong><br />

hypo<strong>the</strong>sis that a group <strong>of</strong> people buried toge<strong>the</strong>r are maternally related<br />

using ancient mitochondrial DNA. But you won’t be able to tell if <strong>the</strong>y

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