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Out of Africa: the Story of Human Origin Out of Africa: The story of human origin by Barbora Trubenová, Himani Sachdeva and Kristína Hudáková November 19, 2018 ave you ever tried to recreate your How did this contradiction arise? family tree, or see if you have any While the doubling rule usually works historical celebrities in your fam- pretty well in the beginning (3 to 4 genera- Hily? Or just tried to make sense of com- tions), your ancestral lines soon start to merge. plicated relationships in the House Tar- Some of your great-great-grandparents may garyens? If so, you are probably familiar have been first or second cousins sharing a with ancestral lines—but in this article we grandparent, or related to each other in some will go deeper in history than you’ve ever other way. Not too long ago, the pool of avail- gone before. able partners was very limited: people did not The question of human origin has fasci- travel very far, and tended to marry within nated us for millennia. Where did we come their village, or someone living nearby. Thus, from? Who were our ancestors? How did when we want to find our ancestors, we of- they spread over the Earth and when? While ten employ a completely different approach. some people are only curious about recent Think about it this way: you can pick any per- generations, some are interested in ancient son on this planet and know that both of you history, going back hundreds of thousands of share a common ancestor! How deep into years. In this issue, we will learn how modern the past you have to go to find this ancestor science enables deeper insights into human often depends on how far apart you live. If evolution than ever before, provides powerful you pick someone from your hometown or tools to search for our ancestors, and answers the hometown of your parents, you probably fundamental questions about human origin. don’t have to go too many generations back to find a common ancestor. If you pick a per- Recreating your own family tree can be son from a long-isolated population, such as fun. You have two biological parents, who Australian aborigines, you may need to go a also have two parents each—your grandpar- few thousand years back and use a different ents, who, again, have two parents each. With approach. every generation further back in your history, the number of great-great-grandparents dou- bles, and in the center of all of that is you. If you continued this line of reasoning, however, Our common ancestors at some point you would have more ancestors in a single generation than the number peo- Our Most Recent Common Ancestor (MRCA) ple who ever lived on Earth! What happened? is the scientific name for the most recent indi- Out of Africa: The story of human origin Page 2 vidual from whom all currently living humans dividual who appears in the genealogical tree are directly descended. If we had perfect fam- of every person. Unfortunately, as you might ily records for everyone in the world, then we have guessed, there are no family records that could find the MRCA by tracing our ancestry go back thousands of years. backwards in time and stopping at the first in- You don’t just have one family tree, you have two! Your family tree, also called a genealogical tree, includes all individuals that were involved in your origin. However, it does not mean that you share genes with all of them! You inherited your genes from your biological parents. They came packed in 46 chromosomes, 23 from each parent, who each have their own 46 chromosomes. This means that you inherited only half of the genetic material from each parent, and the other part was lost (or possibly inherited by your siblings). Your parents also inherited their genetic material from their parents, so you share approximately one quarter of your chromosomal DNA with each of your grandparents. However, due to the chromosomal shuffling and recombination explained below, it is quite likely that you inherited slightly more from one of your grandparents than from the other. In fact, if you go back several generations, you encounter many ancestors who were simply not lucky enough to pass any of their genetic material on to you. This doesn’t mean they weren’t necessary for you to be born, it only means that you don’t share any of their DNA. Looking only at those of your ancestors who contributed to your DNA, you can construct another type of tree—a genetic tree—which is a subset of your genealogical tree. Formation of male reproductive cells. Chromosome shuffling and recombination occur during the formation of reproductive cells (such as sperm or ova). The two chromosomes belonging to each pair exchange pieces of DNA to create two new, mixed chromosomes (see figure). This rearrangement of genetic material is called recombination. The reproductive cell then receives—at random—one of these new chromosomes from each pair. However, there is one chromosome that is more or less exempt from the recombina- tion process: the Y chromosome, which is found only in males. It has a very different appearance than its counterpart, the X chromosome, so these two recombine very rarely. Another way to get information about an- plained earlier, you inherit half of your ge- cestry and relationships between different netic material from each of your parents. The people is by looking at their DNA. As ex- DNA pieces you inherit are almost identical to Out of Africa: The story of human origin Page 3 those they carry—very few mutations occur errors (mutations). during one generation. The same is true for Consider all humans alive today on Earth. your siblings. Statistically speaking, you share Every one of these humans has a mother, and about half of your genetic material with your all these mothers have their own mothers. If full brother or sister, and a quarter of your we try to find the mothers of all living hu- DNA with your first cousins, with very few mans, and then their mothers, and then their errors caused by mutations. Thus, the greater mothers’ mothers, and so on, the number of the similarity between the DNA of two peo- women keeps decreasing—some women have ple, the more recently they shared a common no daughters, and several women can have ancestor. the same mother. Thus, eventually, you will There is, however, a complication that arrive at a single female, who is matrilineally makes it difficult to trace our general or ge- connected to all of us. This woman is known nealogical MRCA using DNA. As mentioned as Mitochondrial Eve (called mt-Eve in short), earlier, genes and chromosomes inherited our matrilineal Most Recent Common Ances- from the mother and the father are reshuf- tor. Her mitochondrial DNA exists in all hu- fled during sperm (or ovum) production. This mans now living on Earth. means that your father may pass on to you the gene for eye color from your grandmother and Why do mitochondria posses DNA? the gene for hair color from your grandfather. Thus, if you trace the ancestry of different Mitochondria have a fascinating his- genes or stretches of DNA backwards in time, tory themselves: they used to be inde- you might find that different genes originate pendent unicellular organisms—a type from different ancestors in your family tree. of bacterium. Approximately 1.5 bil- That’s why, when trying to find the com- lion years ago, before most multicellular mon ancestors of all humans, it is particu- organisms evolved, some mitochondria larly useful to look at bits of DNA that do not started living symbiotically with eukary- undergo recombination or shuffling. Luckily, otic cells (cells with a nucleus enclosed there are two particular pieces of DNA that are within a cell wall). Over time, they lost not shuffled, and two ancestors that we can their ability to exist as independent or- find relatively easily: Mitochondrial Eve (mt- ganisms. Now, even though they still Eve) and Y-chromosomal Adam (Y-Adam). contain parts of their own DNA, they have lost many of the important genes that are required to survive and repro- mt-Eve and Y-Adam duce independently. However, they are vital to the cell respiratory processes of Both parents contribute equal parts to the all multicellular organisms! nuclear genome—the genes located in the cell nucleus—through their ovum (egg) and The idea of mt-Eve is illustrated in Fig. 2. sperm. However, the role of the maternal ge- Note how mt-Eve (in the circle) is connected netic material is slightly larger. Male sperm to all women in the bottom row via an unbro- are donors of chromosomes only, but mothers ken line of daughters. A line consisting only of also provide the egg with tiny organelles— your female ancestors is called a matrilineal mitochondria—that contain their own DNA. line, or lineage. All the other matrilineal lines Thus, while our nuclear DNA is a mixture of either died out or had at least one generation the DNA of our four grandparents, our mi- in which no daughters, just sons, were born. tochondrial DNA (mt-DNA) is inherited only Of course all of us have many ancestors who from the mother’s side and is an almost ex- do not belong to our matrilineal line—your act copy of the mitochondrial DNA of our ma- father’s mother is an example of an ancestor ternal grandmother, with just a few copying who is not matrilineal to you.
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