Your History is in Your Genes: Using DNA to Study the Origins of People and People Groups

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Your History is in Your GenesUsing 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-d
na-knoll-l.jpg
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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
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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?
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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.jp
g
Something for everyone!
http//www.webcreatepro.com/sites/R/e/Retirement/i
mages/Aztec-Calender.jpg
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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.

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How Many Ancestors Do You Have?
Generations Years Ancestors
1 25 2
2 50 4
3 75 8
4 100 16
10 250 1024
20 500 1,048,567
30 750 1 billion
40 1000 1 trillion
www.FulbrightAcademy.org
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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
  worlds 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.jp
g
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I. The Science of DNA AnalysisMost 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
• Coding contain protein sequences for insulin,
  hemoglobin, etc
• same in everyone
• 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
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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.

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For geneology, its easiest to use DNA thats
passed on intact

• (No recombination!!!)
• Y chromosome
• Passed on unchanged from father to son.
• MtDNA
• Passed unchanged from mother to sons and
  daughters

http//www.thednastore.com/images/pins/ychromosome
.jpe
http//www.ggause.com/images/mtdna04.jpg
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• 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
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But Mutations Do Occur

• Even though theres no recombination, changes in
  DNA sequence can occur
• Ex). A?C
• 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.g
if
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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

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How DNA Sequences are Compared

• ATC CTA ACA CTC CTC GTC CCC ATT CTA ATC GCC
• ATC CTA ACA CTC CTC GTC CCC ATT TTA ATC GCT

Terricolor
Domesticus
Ile-Leu-Thr-Leu-Leu-Val-Pro-Ile-Leu-Ile-Ala Ile-Le
u-Thr-Leu-Leu-Val-Pro-Ile-Leu-Ile-Ala
Terricolor
Domesticus
Base alignments in DNA vs. Amino acid (protein)
alignments
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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/refresh-images/cit
izenship/HEAD_citizenship_diversity.jpg
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How Mutations Are Used as a Molecular Clock
Nth Grandmama AGC TTC
AGC TTC
AGC TTC
AGC TTC
AGC TTC
TGC TTT
CGC TTC
AGC TTC
AGC TAC
ACC TTC
TGC TTC
CCC TTC
CGC ATC
TGC TAT
TGG TTT
Few types mtDNA In descendants New population
- Marooned on island , migrated to Europe, etc.
Many types mtDNA in descendants
Reflects old populations - ancestors staying put
(in Africa, etc).
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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/native20
americans.jpg
http//www.fda.gov/consumer/updates/pepfar081307.h
tml
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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)
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Eve and Her European Daughters
Seven haplogroups (lineages) from mtDNA sequenced
in Europe/Eurasia Tara Ursula Xenia Katrine Jasmi
ne Velda Helena
Sykes, B. The Seven Daughters of Eve
Sykes, B., The Seven Daughters of Eve, 2001
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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
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Single Tandem Repeats on the Y Chromosome
http//www.phillipscentral.net/ancestry/results.jp
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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
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Implications of Cheddar Man

• ? shared common ancestor 10,000 yrs ago
• Theres 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
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II. Are Humans Descended from Neanderthals?
Sykes, B. The Seven Daughters of Eve,2001.
http//www.bibliotecapleyades.net/imagenes_aliens/
alien_watchers06_01.jpg
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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
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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?

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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
• Documents Narratives
• Romans invaded 43 A.D.
• Vikings invaded from 870 A.D.
• Angles and Saxon invaders - in the 4th century?
• Norman invaders 1066

http//www.mauiceltic.com/img/ celtic-nations-map-
tex.jpg
British used in the Roman sense
http//img.photobucket.com/albums/v692/pdmclerran/
stonehenge-wallpaper-4.jpg
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Questions

• Who were the British aboriginals?
• Celts? Picts?
• To what extent was the local population
  contributed to or wiped out by invaders?

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Narratives re Origins in the Isles

• Roman historian Tacitus, A.D. 98

http//en.wikipedia.org/wiki/ImageGaius_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

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http//scifipedia.scifi.com/images/7/76/Ioan-Gruff
ud.jpg
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0010212111706970102167/img/1192452227_penelope_cru
z_reference.jpg
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s_wideweb__470x326,0.jpg
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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.ht
ml
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• 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
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• 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

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Who are the Celts?

• Julius Caesar, Gallic Wars
• people of Gaul called themselves Celts
• 1707, Edward Lhuyds 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

www.storeyinfaux.com
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Celts Today

• Many people from Ireland, Wales, Scotland,
  Cornwall, Northumberland consider themselves to
  be Celts

http//jksalescompany.com/image/CelticWoman.jpg
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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.

-Celtic Encyclopedia
www.mauiceltic.com/ireland.htm
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The Idea of Indigenous Celts and Anglo-Saxon
Wipeout Persists

• Spensers Fairie Queen
• Shakespeares King Lear
• Malorys Morte dArthur
• Tennysons Idylls of the King
• Asterix comics
• Many films

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Molecular Geneology Results

• Oldest mtDNA in the isles 10,000 ys old
• correlation with oldest arch. sites
• 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.mauiceltic.com/ireland.htm
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• 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

http//www.blue-n-gold.com/halfdan/vikings.jpg
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Y-Chromosome Results

• Most Ys 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
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Oppenheimer, S. The Origins of the British,2006
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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
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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

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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?imgurlhttp//kenb
aker.files.wordpress.com/2007/05/torah.jpgimgrefu
rlhttp//kenbaker.wordpress.com/2007/05/16/h637
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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 Abrahams descendants will be as
  numerous as the stars of the heaven and the sands
  of the seashore..

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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?

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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

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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.
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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?

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• 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.

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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

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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
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(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
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III. Using DNA to Study Personal History

• Crypto-Jews
• African-American history
• Scottish clans

www.usatoday.com
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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.

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African-American Origins
http//www.nytimes.com/2008/02/05/arts/television/
05root.html
http//www.tvguide.com/tvshows/african-american-li
ves/photos/198973/11

• Henry Louis Gates, Jr. DNA has begun to
  reverse the middle passage.

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http//www.dailymotion.com/video/x4az73_african-am
erican-lives-2_shortfilms
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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

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• 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/finlagga
nandchiefs.gif
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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.

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• In all of us, there is a hunger, marrow-deep, to
  know our heritage to know who we are and where
  we come from.
• -Alex Haley

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Thank you!
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Recommended Reading

• Wade, N. A United Kingdom? Maybe Der Spiegel
  International Edition online, 3/6/07
  http//www.spiegel.del/internatinal/0,1518,druck-4
  70186,00.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. Abrahams Children, 2007, Grand
  Central Publishing, New York.
• African-American Lives, PBS Home Video, 2006.
• African-American Lives 2, PBS Home Video, 2008.
• Sykes, B. Adams Curse, W.W.Norton Company, 2004,
  New York.