Your History is in Your Genes: Using DNA to Study the Origins of People and People Groups Wendy Pogozelski Department of Chemistry State University of.
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Your History is in Your Genes: Using DNA to Study the Origins of People and People Groups Wendy Pogozelski Department of Chemistry State University of New York College at Geneseo http://member.tripod.com/~midgley/origins.gif http://kara.allthingsd.com/files/2007/11/01-coll-dna-knoll-l.jpg My Research Radiation Effects and Measuring Damage to Mitochondrial DNA Diabetes and Anti-Obesity Research: Metabolism of Carbohydrates vs. Fats Synthetic Biology/Bioengineering Bioinformatics – Sequencing the MtDNA Of Various Mouse Species Overview • The Science – – – • Mitochondrial DNA Y-chromosome DNA Other markers Applications – – – – – 1. Are we related to Neanderthals? 2. Where do the “races” of the British Isles come from? 3. Are we related to Genghis Khan? 4. Are the Cohenim of the Jewish people genetically distinct? 5. Can the “lost tribes” of Israel be identified? 6. Personal DNA Analysis: African-Americans, Scottish clans How does Molecular Geneology agree with myth? Tools to Study History • • • • • • Documents, narratives, Artifacts Traditions Literature Language DNA (Molecular Genealogy) is taking its place alongside these http://www.cisarik.com/PHOTO-BOOK/document-zoom.jpg Something for everyone! http://www.webcreatepro.com/sites/R/e/Retirement/images/Aztec-Calender.jpg Caveats • “Myth” = any story or narrative, oral or written, true or not • Race and ethnicity can be taboo topics in some circles….. – less so in science become the norm • There can be an emotional response to DNA results. • History, race, ethnicity, issues of victory/subjugation sometimes have rules of political correctness. – Sometimes these rules are unclear to laymen…. • (Excuse any insensitivity/ignorance of the rules). • Examples chosen reflect my areas of greatest familiarity. • “Armchair geneology” vs. peer-reviewed science, historial narrative. How Many Ancestors Do You Have? Generations 1 2 3 4 10 20 30 40 Years 25 50 75 100 250 500 750 1000 Ancestors 2 4 8 16 1024 1,048,567 1 billion 1 trillion www.FulbrightAcademy.org How related are we? • 30 generations 750 years 1 billion potential ancestors • Total # humans to live on earth: 70 billion • World population 750 yrs ago: 450 million • Everyone is potentially related to much of the world’s population from the last 500-750 years. • Still, we can find differences in our DNA that let us explore degrees of relatedness. http://www.personalbaby.com/images/KK1421 -twins.jpg I. The Science of DNA Analysis: Most of Human DNA is in Chromosomes • Humans have 26 pairs of chromosomes plus 2 sex chromosomes in the nucleus – One set from mother, one from father – Two kinds of genes: 1. Coding – contain protein sequences for insulin, hemoglobin, etc ~same in everyone 2. Non-coding (98%) - code for nothing, get scrambled with every generation (recombination) • Sex chromosomes • • Women – two X Men - one X, one Y http://www.karakalpak.com/images/xandy.jpg DNA is also found in the mitochondria of cells http://www.earthlife.net/images/eury-cell.gif • Unlike nuclear DNA, mtDNA is found in MANY copies per cell. For geneology, it’s easiest to use DNA that’s passed on intact (No recombination!!!) • Y chromosome – Passed on ~unchanged from father to son. http://www.thednastore.com/images/pins/ychromosome.jpe • MtDNA – Passed ~unchanged from mother to sons and daughters http://www.ggause.com/images/mtdna04.jpg http://www.olaweb.org/quarterly/quar7-4/1.jpg Why MtDNA is maternally inherited Sperm have mtDNA mostly in the tail. The head is what penetrates the egg. Remaining mtDNA in tail is destroyed. Egg contributes ~all the mtDNA http://www.astrographics.com/GalleryPrints/Display/GP2061.jpg But Mutations Do Occur • Even though there’s ~no recombination, changes in DNA sequence can occur – Ex). AC – Can occur through miscopying, chemical damage, radiation damage… • If non-lethal, passed on through generations • Studying these CHANGES lets us determine relatedness. http://www.intelihealth.com/i/P/PointMutationGEN.gif MtDNA Studies Focus on the D-loop/Control Region • 500 base-pair region • Non-coding – can tolerate mutations • Has 20X more changes than any 500-bp stretch in nuclear DNA • “Molecular Clock” How DNA Sequences are Compared ATC CTA ACA CTC CTC GTC CCC ATT Terricolor CTA ||| ||| ||| ||| ||| ||| ||| ||| ATC CTA ACA CTC CTC GTC CCC ATT Domesticus Terricolor Domesticus ATC GCC || ||| || TTA ATC GCT Ile-Leu-Thr-Leu-Leu-Val-Pro-Ile-Leu-Ile-Ala Ile-Leu-Thr-Leu-Leu-Val-Pro-Ile-Leu-Ile-Ala “Base” alignments in DNA vs. Amino acid (protein) alignments How different are humans in our MtDNA control regions? • Modern Humans vs. Modern “Anderson sequence” : – ~8 substitutions out of ~500 in control region • Humans vs. chimpanzees: – 55 substitutions • Humans vs. Neanderthals: – 26 substitutions http://www.allstate.com/content/refreshimages/citizenship/HEAD_citizenship_diversity.jpg How Mutations Are Used as a Molecular Clock Nth Grandmama: AGC TTC AGC TTC AGC TTC AGC TTC AGC TAC AGC TTC AGC TTC ACC TTC CGC TTC TGC TTC CCC TTC TGC TTT CGC ATC Few types mtDNA Many types mtDNA in In descendants “New” population Marooned on island , migrated to Europe, etc. descendants TGC TAT TGG TTT Reflects old populations - ancestors staying put (in Africa, etc). The greater the number of differences in DNA sequence between members of a population, the older it is. Ex) Native Americans (similar sequences) vs. Africans (more variation) http://www.colby.edu/personal/e/ebeasley/native%20americans.jpg http://www.fda.gov/consumer/updates/pepfar081307.html Mitochondrial Eve • Look at mutation rates in known generations • Back-calculate to determine when all sequences would coalesce into one. • “Mitochondrial Eve and Y-chromosome Adam” (Dürer) Eve and Her European Daughters Seven haplogroups (lineages) from mtDNA sequenced in Europe/Eurasia Tara Ursula Xenia Katrine Jasmine Velda Helena B. The Seven Sykes, B., The Seven Sykes, Daughters of Eve, 2001 Daughters of Eve Y-chromosome analysis looks at differences in single tandem repeats Man #1: AAG AAG AAG Man #2: AAG AAG AAG AAG Enzymes sometime slip as they copy these repeated sequences. Result: differences in the lengths of the repeats Single Tandem Repeats on the Y Chromosome http://www.phillipscentral.net/ancestry/results.jpg I. “Cheddar Man”: one of the earliest MtDNA studies (1996) • 9000-yr-old skeleton found in cave in Somerset, England – MtDNA recovered from tooth matched most common sequence in modern Europeans • More abundant • Survives better – 2 changes from “Anderson seq” – MtDNA perfectly matched that of a history teacher living ½ mile from the caves http://archive.southcoasttoday.com/daily/03-97/03-09-97/a09wn056.htm Implications of Cheddar Man shared common ancestor ~10,000 yrs ago • “There’s more hunger/gatherer in us than any one had thought” (Bryan Sykes) • “It took 10,000 years for this family to move 300 yards down the road”. http://www.bbc.co.uk/somerset/content/images/2005/03/22/cheddar_man_203x152.jpg II. Are Humans Descended from Neanderthals? Sykes, B. The Seven Daughters of Eve,2001. http://www.bibliotecapleyades.net/imagenes_aliens/alien_watchers06_01.jpg MtDNA Results • MtDNA used because abundant, survives better • Too few similarities between any known human mtDNA and mtDNA from ~seven Neanderthal skeletons* • # differences in control region: 26 www.sciencedaily.com *so far Further Studies: MtDNA and the Y-chromosome used to study the origins of populations • British isles • Cohenim of Jewish population • “Lost tribes of Israel” To what extent does DNA analysis match “myth”? III. What is the Origin of the Peoples of the “British* Isles”? • Archeology: – people inhabiting isles since Mesolithic (middle Stone Age) period – art is similar to that found in central Europe http://www.mauiceltic.com/img/ celtic-nations-map-tex.jpg • Documents & Narratives: – Romans invaded ~ 43 A.D. – Vikings invaded from ~870 A.D. – Angles and Saxon invaders - in the 4th century? – Norman invaders 1066 *British used in the Roman sense http://img.photobucket.com/albums/v692/pdmclerran/stonehenge-wallpaper-4.jpg Questions • Who were the British aboriginals? – Celts? Picts? • To what extent was the local population contributed to or wiped out by invaders? Narratives re: Origins in the Isles 1. Roman historian Tacitus, A.D. 98 http://en.wikipedia.org/wiki/Image:Gaius_Cornelius_Tacitus.jpg - - Noted the redheads in Caledonia (Scotland) similar to the redheads of Scandinavia The Silures (Welsh tribe) looked like the Iberians (Spanish) The coastal Britons were similar to the Gauls http://scifipedia.scifi.com/images/7/76/Ioan-Gruffud.jpg http://data-allocine.blogomaniac.fr/mdata/7/6/1/Z20010212111706970102167/img/1192452227_penelope_cruz_reference.jpg http://www.smh.com.au/ffximage/2007/07/09/zetajones_wideweb__470x326,0.jpg http://media.collegepublisher.com/media/paper997/stills/8b068u20.jpg Origin Narratives in the Isles 2. Gildas, The Ruin of Britain 6th century – History written by a monk – Said original Britons wiped out by invaders from Saxony (Germany) in the 4th century – Myth took hold when English Kings looked to Teutonic Germans • Strong • Protestant • stout spirit against Rome – pride in “Saxon” heritage http://www.earlybritishkingdoms.com/bios/gildas.html 3. St. Bede - 8th century - Ecclesiastical History of the English People Said Picts were from Scandinavia, the English from Brittany, then country invaded by Angles, Saxons, Jutes (from Germany and Denmark), locals wiped out 4. Geoffrey of Monmouth, 1138 The History of the Kings of Britain – Semi-historical embellishment of oral tradition • • • Locals fight the invading Saxons Arthur is carried off to Avalon; the Saxons return to rule Origin of the Red Dragon (original Britons) and White Dragon (Saxon invaders) red dragon on the Welsh flag Who are the Celts? Julius Caesar, Gallic Wars – people of Gaul called themselves Celts www.storeyinfaux.com 1707, Edward Lhuyd’s Archaeologica Britannica – Noted similarity in Gaelic languages (west Scotland, Ireland, Wales, Cornwall, Brittany) to ancient languages of Gaul • He grouped them under the term “Celtic” – Constructed historical argument of ancient people pushed to west of Isles – Irish, some Welsh, some Scots began calling themselves “Celts” in 1700s “Celts” Today Many people from Ireland, Wales, Scotland, Cornwall, Northumberland consider themselves to be “Celts” http://jksalescompany.com/image/Celtic+Woman.jpg Irish Narrative of the Milesians • Original Celts in Spain/Iberian peninsula • Spanish Celtic king Brigus sent a colony of his people into Britain. • King Brigus’ grandson was Milesius – considered the father of the Irish race. – The Sons of Milesius conquered Ireland. • Later, a new group of Iberian settlers arrived in Ireland, called "Cruitnii" by the Irish - or the "People of the Designs," -- the Picts. www.mauiceltic.com/ireland.htm -Celtic Encyclopedia The Idea of Indigenous “Celts” and Anglo-Saxon Wipeout Persists • • • • • • Spenser’s Fairie Queen Shakespeare’s King Lear Malory’s Morte d’Arthur Tennyson’s Idylls of the King Asterix comics Many films Molecular Geneology Results • Oldest mtDNA in the isles: 10,000 ys old – ~correlation with oldest arch. sites http://www.mauiceltic.com/ireland.htm • Many similarities between mtDNA of “Celts” in western Isles and people in western Iberia (Spain) – vs. a small number of identical changes for other parts of Europe • BUT this mtDNA type is also abundant in the English – On the maternal side, the majority of English, Welsh, Irish, Scots are descended maternally from original oldest inhabitants/Iberian immigrants • STRONG Spanish connection • Irish myth grounded in reality – Spanish connection may reflect retreat of Mesolith aboriginals to Spain during Ice Age and/or new invasion from Spain after the Ice Age http://www.blue-n-gold.com/halfdan/vikings.jpg – ~no Anglo-Saxon mtDNA • Invaders were ~exclusively male OR female invader lines did not persist. • Bede, etc. incorrect – locals were NOT wiped out by invaders – Some mtDNA signatures in islands of northern Scotland match Scandinavians • Vikings brought men AND women Y-Chromosome Results • Most Y’s similar to either Spain or “lowlands” – Range of % Iberian signatures: • 59% in Norfolk (area of Angle invasion) • 96% Iberian in north Wales (considered ancient Celtic) • Maximum of 30% of gene types match nw Europe – “Invader” DNA is a minority contribution • No “wipe-out” • Anglo-Saxon contribution ~20% • Viking contribution heavier in northern Scotland (~40%) – Anglo-Saxon invaders were nearly exclusively male – Small number of anomalous sequences in southern England match with middle East (Roman slaves?) http://www.geocities.com/asatru_oesterreich/Anglo-Saxon_warriors.jpg Oppenheimer, S. The Origins of the British,2006 C. Another Y-chromosome Study: The Genghis Khan Effect • Y chromosome signature in 16 million men in Central Asia. • Zerjal et al. (2003): derives from Genghis Kahn? • Bryan Sykes: “My guess is that the Y chromosome of every living man has spent at least one generation in the testis of a warlord.” – The New York Times, July 9, 2008 http://www.familytreedna.com/ matchgenghis.html D. DNA and Jewish Origins • Community characterized by consanguinity and endogamy • 10 million of 13 million are Ashkenazim – Recent central/eastern European origin • 3 million are Sephardim – Spanish/North African origin Main Narrative: The Bible Founders: - Abraham – Twelve tribes (grandsons and great-grandsons) Division into Israel and Judah • Judah (south) - tribes of Judah and Benjamin • Israel (north) - remaining tribes – later carried off to exile, “lost tribes” Priestly caste • descendants of Aaron (brother of Moses and the Cohen Gadol or high priest) • Descendants are Cohenim • Members of tribe of Levi http://images.google.com/imgres?imgurl=http://kenbaker.files.wordpress.com/2007/05/torah.jpg&imgrefurl=http://kenbaker.wordpress.com/2007/05/16/&h=637&w=460&sz=64&hl=en&start= 1&um=1&usg=__N76OZuZ2kGPMs0Bin1IqLyOTClw=&tbnid=sFTyXY3wPUXzvM:&tbnh=137&tbnw=99&prev=/images%3Fq%3DTorah%26um%3D1%26hl%3Den%26rls%3DGGLD,GGLD:2006-21,GGLD:en%26sa%3DN Abraham • Believed to be – ancestor of 13 million Jews – ancestor and/or spiritual father of 1.3 billion Muslims – a spiritual father of 2 billion Christians – Genesis: Abraham’s descendants will be “as numerous as the stars of the heaven and the sands of the seashore..” Questions • What happened to the northern tribes? • Can some modern Jews trace ancestry back as Jewish priests of Aaron? • What happened to Jews who converted during the Spanish Inquisition? Are the Cohenim Genetically Distinct? • 98.5% of those tested had a signature mutation pattern • This pattern existed in only 3% of the general Jewish population • Common to both Sephardic and Ashkenazi Cohanim Y-Chromosome Studies • Study of 7 international Jewish communities • Jewish men related to each other and to Palestinian and Syrians – Negates recent idea that Ashkenazi Jews descended from converts to Judaism such as the Khazars (medieval Turkish tribe that adopted Judaism) Work of Hammer, M.; Goldstein, D., Thomas, M. and Bradman, N. MtDNA Results • Study of 9 Jewish communities (from former Soviet Union republics to Morocco) – Small number of haplotypes – Not related to each other – Not related to any known modern middle Eastern haplotypes • Small number of founding mothers? • Haplotypes unique to Jewish communities? • Dr. David Goldstein of University College, London: – Many Jewish communities are the result of unions between Jewish men and local women, but the women's origins cannot be genetically identified. Lost Tribes • After Babylonian exile, some in northern kingdom lost Jewish identity • Several populations claimed to be descendants of lost tribes – Lemba tribe of Zimbabwe – Beta Israel of Ethiopia • Note BAD scholarship in past… • Note stickiness of using DNA to decide who is Jewish and who is not… Y-Chromosome Results • Lemba of Zimbabwe – Millennia-old Jewish rituals – Show Jewish markers – Probably descendants of exodus of Yemenite Jews http://www.mindspring.com/~jaypsand/lemba3.jpg (Y-chromosome Results) • Beta Israel – DNA markers do not match known Jews - Probably descendants of converts to Judiasm http://israelhighway.org/highway-images/ethiopian-jews-1.jpg III. Using DNA to Study Personal History • Crypto-Jews • African-American history • Scottish clans www.usatoday.com “Crypto-Jews” • Hispanics in Colorado and New Mexico found to have Jewish markers in their DNA • Many families also have semi-Jewish traditions • May be descendants of Jews who escaped the Spanish Inquisition • Controversial Does the presence of a marker confirm crypto-Jewish ancestry? Who decides? • Nonetheless, several individuals with these markers have converted to Judiasm or have begun to adopt Jewish rituals. African-American Origins http://www.nytimes.com/2008/02/05/arts/television/05root.html http://www.tvguide.com/tvshows/african-american-lives/photos/198973/11 • Henry Louis Gates, Jr.: “DNA has begun to reverse the middle passage.” http://www.dailymotion.com/video/x4az73_african-american-lives-2_shortfilms Scottish Clans • Began when Bryan Sykes noted common signature for men with last names MacDonald, MacDougall and MacAlister – (related clans) • Could researchers find the chromosomal signature of the founder of Clan Donald? – Some ambiguity because some tenants adopted name of clan chief • Modern clan chiefs known – Ranald Alexander, 24th Chief of Clanranald – Aerneas Ranald Donald, 22nd Chief of Glengarry – Sir Ian, 17th baronet and 24th chief of the Macdonalds of Sleat – Godfrey James, 8th Lord Macdonald • All traced ancestry to Someled of Argyll – 1100 A.D., fought the Vikings http://www.clandonald.org.uk/cdm00/images/finlagganandchiefs.gif Potential Problems with Conclusions Based on Mutations • Back mutation – Substitutions return to original identity • Parallel substitution – Same mutations in different lineages • Mutation “hotspots” – Not all sites may be equally neutral • Mutation rate may not be constant for all generations, all families, all sites • Still, overall, for a population,…..seems to work. • “In all of us, there is a hunger, marrowdeep, to know our heritage – to know who we are and where we come from.” -Alex Haley Thank you! Recommended Reading • • • • • • • • • • • Wade, N. “A United Kingdom? Maybe” Der Spiegel International Edition online, 3/6/07 http://www.spiegel.del/internatinal/0,1518,druck470186,00.html Kahn, N. “Blood Isle” The Scientist, April 2007, 60. Miles, David The Tribes of Britain, 2005, Orion Books The New York Times, July 9, 2008 Jones, Martin The Molecule Hunt: Archaeology and the Search for Ancient DNA, 2001, Arcade Publishing, New York. Sykes,B. Saxons, Vikings and Celts: The Genetic Roots of Britain and Ireland, 2007 Oppenheimer, S. The Origins of the British: A Genetic Detective Story, 2006, Carroll & Graf, New York. Entine, J. Abraham’s Children, 2007, Grand Central Publishing, New York. African-American Lives, PBS Home Video, 2006. African-American Lives 2, PBS Home Video, 2008. Sykes, B. Adam’s Curse, W.W.Norton Company, 2004, New York.