My European Family
Page 35
What is nuclear DNA?
Nuclear DNA, which accounts for a large proportion of all DNA, is found in the cell nucleus. Analysing nuclear DNA is generally more difficult and costly than analysing only mitochondrial DNA. The more detailed the analyses you order, the more expensive they tend to be.
What are Y chromosomes?
Y chromosomes are a part of nuclear DNA passed on only by men to their sons. They are sex chromosomes that normally give a man his sexual traits. By comparing mutations in Y chromosomes, a man’s paternal lineage can be traced a long way back in time. The most detailed Y-chromosome tests provide far more information than the most detailed tests on mitochondrial DNA, so they will improve your chances of being able to make links with historical sources and the present day.
What are X chromosomes?
X chromosomes are also part of our nuclear DNA. Both men and women inherit an X chromosome from their mother. Women also inherit an X chromosome from their father. This is why women normally have two X chromosomes, while men have one X chromosome and one Y chromosome. The particular way in which X chromosomes are passed on mean they can be used to establish genealogical relationships by means of autosomal tests (see below).
What is autosomal DNA?
Autosomal DNA is DNA from the cell nucleus that an individual inherits from both their father and their mother, and which is randomly mixed each generation. The most common and inexpensive commercial tests for people looking into their family history are based on autosomal DNA. They can provide information about siblings, parents, cousins, second cousins and other relatives at up to seven degrees of kinship. However, this naturally works only if the other people concerned have also been tested.
The strict biological definition of autosomal DNA is DNA that is neither mitochondrial nor from sex chromosomes. However, genealogy companies also include X chromosomes in autosomal DNA tests, making it easier to trace your relatives.
What is a haplogroup?
A haplogroup is a group of individuals with the same set of mutations, who thus share a common female or male ancestor some considerable way back in history. Another way of expressing the concept is that all the individuals in a haplogroup belong to the same branch of a genealogical tree.
What does STR mean?
STR stands for ‘short tandem repeats’. A short tandem repeat is the location where the DNA molecule gets stuck, as it were, and a short sequence is repeated a number of times. The number of repetitions at each location is hereditary and differs between individuals. This makes STR a practical tool for ascertaining whether a family relationship exists. It has been used in forensics since the 1980s and is now also a popular tool in genealogical research, especially for comparing Y chromosomes. There is no known link between STR and hereditary traits, which makes its use less controversial. The commercial Y-chromosome tests known as Y-DNA37, Y-DNA67 and Y-DNA111 calculate the number of repeats at 37, 67 and 111 locations on the Y chromosome respectively. The higher the number, the greater the precision and the closer the genealogy researcher can get to the present day. A compromise that often provides good value for money is to test a moderate number of STRs and combine the results with tests on single nucleotide polymorphisms, SNPs.
What does SNP mean?
SNP stands for ‘single nucleotide polymorphism’. It is a single location on the DNA molecule, the nucleobase, where people can have different variants. SNPs are often called ‘snips’. Geneticists often test a selection of snips instead of all of a person’s hereditary material, as this is generally simpler and less costly. Snips have long been used in medical research, but they are now also beginning to be used in DNA-based genealogical research. There are thousands of different kinds of SNP tests, so you should discuss your needs with a specialist before selecting one, to be sure of which test will provide the most relevant information in your particular case.
What are HVR1 and HVR2?
These abbreviations stand for ‘hypervariable region’ 1 and 2. They are two small parts of our mitochondria where mutations occur more frequently than in the rest of our DNA. Analysing them shows which mitochondrial haplogroup a person belongs to. But this is a rough division which can only provide information about a person’s origin in the maternal line several thousand years ago. Looking into closer genealogical and family relationships and getting closer to the present day requires more complete DNA analyses of whole mitochondria.
What are CRS and rCRS?
CRS stands for Cambridge Reference Sequence, which is used for the purpose of comparing mitochondrial DNA. This involves identifying the mutations that differentiate a mitochondrion from the first human mitochondrion ever sequenced; this was done in Cambridge in the 1970s. The improved version is known as rCRS, the revised Cambridge Reference Sequence.
What is RSRS?
RSRS stands for Reconstructed Sapiens Reference Sequence. It is a more recent method for comparing mitochondrial DNA that has been in use since 2012. This method is based on the sequence that, according to scientists’ calculations, was borne by the female ancestor we all share, ‘mitochondrial Eve’.
What are mutations?
Mutations are random changes in the DNA molecule whereby certain units – nucleobases – are replaced, added or disappear. There are roughly 30 new mutations per human generation. The older a father is, the more new mutations his children will have. Mitochondria undergo one mutation every 2,000 years on average within the same line of descent.
What do all the letters and figures in my mitochondrial DNA result mean?
They are terms for different types of mutations. To give an example, C40624T means that the nucleobase called cytosine, C, has been replaced by thymine, T, at location 40624. If the result begins with A, T or G instead, and ends with a different letter, this means that another nucleobase – adenine, thymine or guanine – in the reference sequence used (see rCRS and RSRS above) has been replaced.
Sometimes the result is followed by an exclamation mark; for example, C40624T! The exclamation mark stands for a reverse mutation. This means that the original version – in mitochondrial Eve or the Cambridge Reference Sequence – had a T at exactly the same location. Within the haplogroup as a whole – the larger branch to which the sample belongs – that T has been replaced by another nucleobase. But the side branch on the tree to which the tested sample belongs has since mutated back to the original T.
Sometimes you can see 315,1 or 315+C. That means that an extra nucleobase, a C in this instance, has been added after position 315. The opposite of that would be 315D. D stands for deletion, meaning that the nucleobase at the location indicated has been deleted.
There are a number of other abbreviations for specific types of mutations.
References, Further Reading and Travel Tips
The Troll Child: 54,000 Years Ago
The chapter entitled ‘The Troll Child’ is the product of my own imagination. However, it is based as far as possible on genuine research data concerning our contacts with Neanderthals. References to this research are provided in Chapters 2 and 4.
I decided early on, at the recommendation of the Israeli archaeologist Ofer Bar-Yosef, to set the scene in Galilee. When I started writing, there was no definite proof that anatomically modern people and Neanderthals had coexisted in Galilee during the period in question. It was not until January 2015, when my manuscript was already finished, that such proof was published. It took the form of a description by Israeli archaeologists of the cranium of an anatomically modern human found in Manot cave and dated at about 55,000 years.
As far as researchers can judge from the shape of the Manot cranium, the individual in question was not the result of hybridisation between Neanderthals and modern humans. This suggests that interbreeding took place somewhat later – one of the reasons for my choice of the subtitle ‘the first 54,000 years’.
The botanist Mariette Manktelow – who is, among other things, an expert on biblical flora – explained to me what the local
vegetation may have looked like at different times of the year. Why do I think it was the Troll Child’s father who was a Neanderthal, not his mother? Though that is speculative, there are DNA findings that support such guesswork. No one alive today has been found to bear mitochondria from Neanderthal ancestors. In other words, there seems to be no unbroken matrilineal link between the Neanderthals and us. Moreover, there is less genetic material from Neanderthals in our X chromosomes than in the rest of our DNA. One conceivable explanation for this is that ‘troll children’ may have had Neanderthal fathers, while their mothers were modern humans.
Bar-Yosef Mayer, D., Vandermeersch, B., & Bar-Yosef, O. (2009). Shells and ochre in Middle Paleolithic Qafzeh Cave, Israel: indications for modern behavior. Journal of Human Evolution, 56 (3), 307–314. doi:10.1016/j.jhevol.2008.10.005
Baruch, U. (1986). The late Holocene vegetational history of Lake Kinneret (Sea of Galilee), Israel. Paléorient, 12 (2), 37.
Fagan, B. M. & Durrani, N. (2013). People of the Earth: an introduction to world prehistory (14th edition). Boston: Pearson.
Hershkovitz, I., Marder, O., Ayalon, A., Bar-Matthews, M., Yasur, G., Boaretto, E., et al. (2015). Levantine cranium from Manot Cave (Israel) foreshadows the first European modern humans. Nature, doi:10.1038/nature14134
Bar-Yosef, Ofer. Email, July 2013.
Manktelow, Mariette. Email, July 2013.
Neanderthals in Leipzig
Leipzig is a pleasant city. I would recommend readers who may wish to visit other places described in this book, such as the Museum of Prehistory in Halle, the Goseck solar observatory and the Nebra Ark (Arche Nebra), to use it as a base.
Take the opportunity to dine at Bayerischer Bahnhof, the former railway station turned brewery and beer garden. If you can cope with rather inconsistent standards and a steep staircase, Antikhotel Völkerschlachtdenkmal is an experience; affordable, it offers excellent breakfasts, cycles for hire and fine antique furnishings. However, it is some way out of the city centre.
While the Max Planck Institute for Evolutionary Anthropology is not generally open to the public, its Zen-inspired architecture can be viewed from the exterior and the reception area.
For a deeper understanding of Svante Pääbo’s work, I would recommend reading his book Neanderthal Man, which touches on his own life and gives a great deal of information about his research.
Abi-Rached, L., Jobin, M., Kulkarni, S., McWhinnie, A., Dalva, K., Gragert, L., et al. (2011). The shaping of modern human immune systems by multiregional admixture with archaic humans. Science, 334 (6052), 89–94. doi:10.1126/science.1209202
Auel, J. M. (2010). The Clan of the Cave Bear. London: Hodder & Stoughton.
Bojs, K. & Bratt, A. (2011). Vikten av gener: hur DNA påverkar din vikt [The Weight of Genes: how DNA affects your weight] (1st edition). Stockholm: Natur & Kultur.
Cann, R., Stoneking, M., & Wilson, A. (1987). Mitochondrial DNA and human evolution. Nature, 325 (6099), 31–36.
Green, R. E., Krause, J., Ptak, S. E., Briggs, A. W., Ronan, M. T., Simons, J. F., Du, L., Egholm, M., Rothberg, J. M., Paunovic, M., & Pääbo, S. (2006). Analysis of one million base pairs of Neanderthal DNA. Nature, 444, 330–336.
Green, R., Krause, J., Briggs, A., Maricic, T., Stenzel, U., Kircher, M., et al. (2010). A draft sequence of the Neandertal genome. Science, 328 (5979), 710–722. doi:10.1126/science.1188021
Hershkovitz, I., Marder, O., Ayalon, A., Bar-Matthews, M., Yasur, G., Boaretto, E., et al. (2015). Levantine cranium from Manot Cave (Israel) foreshadows the first European modern humans. Nature, doi:10.1038/nature14134
Joordens, J. A., d’Errico, F., Wesselingh, F. P., Munro, S., de Vos, J., Wallinga, J., et al. (2014). Homo erectus at Trinil on Java used shells for tool production and engraving. Nature, doi:10.1038/nature13962
Krings, M., Stone, A., Schmitz, R., Krainitzki, H., Stoneking, M., et al. (1997). Neandertal DNA sequences and the origin of modern humans. Cell, 90 (1), 19–30.
Noonan, J. P., Coop, G., Kudaravalli, S., Smith, D., Krause, J., Alessi, J., Chen, F., Platt, D., Pääbo, S., Pritchard, J. K., & Rubin, E. M. (2006). Sequencing and analysis of Neanderthal genomic DNA. Science, 314, 1113–1118.
Prüfer, K., Racimo, F., Patterson, N., Jay, F., Sankararaman, S., Sawyer, S., et al. (2014). The complete genome sequence of a Neanderthal from the Altai Mountains. Nature, 505 (7481), 43–49. doi:10.1038/nature12886
Pääbo, S. (1984). Über den Nachweis von DNA in altägyptischen Mumien. Das Altertum, 30, 213–218.
Pääbo, S. (1985). Molecular cloning of Ancient Egyptian mummy DNA. Nature, 314 (6012), 644–645.
Pääbo, S. (1995). The Y chromosome and the origin of all of us (men). Science, 268 (5214), 1141–1142.
Rodríguez-Vidal, J., d’Errico, F., Giles Pacheco, F., Blasco, R., Rosell, J., Jennings, R. P., et al. (2014). A rock engraving made by Neanderthals in Gibraltar. Proceedings of the National Academy of Sciences of the United States of America, 111 (37), 13301–13306. doi:10.1073/pnas.1411529111
Sankararaman, S., Mallick, S., Dannemann, M., Prüfer, K., Kelso, J., Pääbo, S., et al. (2014). The genomic landscape of Neanderthal ancestry in present-day humans. Nature 507, (7492), 354. doi:10.1038/nature12961
Sykes, B. (2001). The Seven Daughters of Eve: the science that reveals our genetic ancestry. New York: Norton.
Hublin, Jean-Jacques. Interview, November 2014.
Prüfer, Kay. Interview, September 2013.
Pääbo, Svante. Interview, November 2014.
Stefánsson, Kári. Interview, 1998.
The Flute Players
I strongly recommend going on an Ice Age safari to the Swabian uplands to view the world’s oldest known musical instruments and the world’s oldest figurative art. However, it is worth bearing in mind that Germany is a highly decentralised federal republic without any central authority to make life easier for Ice Age tourists.
The most important finds are dispersed; some can be found at the museum in Ulm, others at the castle museum in Tübingen and in the little town of Blaubeuren. The small museum in Blaubeuren is particularly pleasant, with a special room where you can listen to the flutes, and an exhibition that shows what the flute players may have looked like, and how their gear differed from that of the Neanderthals.
It is only a few kilometres from Blaubeuren to the caves at Geißenklösterle and Hohle Fels. From Ulm, you can take the train to Schelklingen, after which it is no more than a half-hour walk. The bus from Blaubeuren to Ehingen takes you even closer; get off at the bus stop marked ‘Hohle Fels’.
Geißenklösterle can only be viewed from the outside, and you have to scale a steep slope to reach it. Hohle Fels, however, is more accessible, and it is sometimes open to the public. For further information, it is best to send an email in advance to Erwin Haggenmüller (e.haggenmueller@t-online.de), Dieter Frey (dodifrey@web.de) or info@schelklingen.de.
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Conard, N. (2003). Palaeolithic ivory sculptures from southwestern Germany and the origins of figurative art. Nature, 426 (6968), 830–832.
Conard, N. (2009). A female figurine from the basal Aurignacian of Hohle Fels Cave in southwestern Germany. Nature, 459 (7244), 248–252. doi:10.1038/nature07995
Conard, N. J. & Bolus, M. (2003). Radiocarbon dating the appearance of modern humans and timing of cultural innovations in Europe: new results and new challenges. Journal of Human Evolution, 44, 331–371. doi:10.1016/S0047-2484(02)00202-6
Conard, N. J., Malina, M., & Münzel, S. C. (2009). New flutes document the earliest musical tradition in southwestern Germany. Nature, 460 (7256), 737–740. doi:10.1038/nature08169
Cook, J. (2013). Ice Age Art: arrival of the modern mind. London: British Museum Press.
Eichmann, R., Jianjun, F., & Koch, L-F. (2015). Studien zur Musikarchäologie X. In press.
Fagan, B. M. & Durrani, N. (2013). People of the Earth: an introduction to w
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Fu, Q., Li, H., Moorjani, P., Jay, F., Slepchenko, S. M., Bondarev, A. A., et al. (2014). Genome sequence of a 45,000-year-old modern human from western Siberia. Nature, 514 (7523), 445–449. doi:10.1038/nature13810
Higham, T., Basell, L., Jacobi, R., Wood, R., Ramsey, C., & Conard, N. (2012). Testing models for the beginnings of the Aurignacian and the advent of figurative art and music: the radiocarbon chronology of Geißenklösterle. Journal of Human Evolution, 62 (6), 664–676. doi:10.1016/j.jhevol.2012.03.003
Karlsson, J. (1970). A double dominant genetic mechanism for schizophrenia. Hereditas, 65 (2), 261–267.
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., et al. (2012). Rate of de novo mutations and the importance of father’s age to disease risk. Nature, 488 (7412), 471–475. doi:10.1038/nature11396
Kyaga, S., Lichtenstein, P., Boman, M., Hultman, C., Långström, N., & Landén, M. (2011). Creativity and mental disorder: family study of 300,000 people with severe mental disorder. The British Journal of Psychiatry, 199 (5), 373–379. doi:10.1192/bjp.bp.110.085316
Lewis-Williams, J. D. (2004[2002]). The Mind in the Cave: consciousness and the origins of art. London: Thames & Hudson.
Morwood, M. J., Aubert, M. M., Brumm, A. A., Ramli, M. M., Sutikna, T. T., Saptomo, E. W., et al. (2014). Pleistocene cave art from Sulawesi, Indonesia. Nature, 514 (7521), 223–227. doi:10.1038/nature13422
Conard, Nicholas. Interview, September 2013.
Cook, Jill. Interview, March 2013.
Lichtenstein, Paul. Interview, 2014.