human chromosomes – 23 pairs · 2016-08-13 · • deep ancestry: inside the genographic project...
TRANSCRIPT
UsingDNATes,ngforGenealogy
Dr.DanielC.Hyde
AssociateProfessorofComputerScience
BucknellUniversity
PresentedatJacksonBrigadeReunion,MarieFa,OhioonAugust5,2016
DanHyde UsingDNATes,ngforGenealogy 1
ThreeDNATestsusefulforGenealogy
• Y-DNAtest–looksatmarkersonYchromosome
• Mitochondrialtest(mtDNA)–looksatmarkerson
MitochondrialDNA
• AutosomalDNAtest(atDNA)–looksatmarkerson
chromosomes1-22(nonsexones).
First,somebackgroundinBiologytodescribeterms.
DanHyde UsingDNATes,ngforGenealogy 2
Called“Gene,cGenealogy”
HumanChromosomes–23pairs
DanHyde UsingDNATes,ngforGenealogy 3
Pairs1-22are
theAutosomal
Chromosomes
SexChromosomes
FactsaboutNuclearDNA
• 23pairsofChromosomesmakeupNuclearDNA
– Over3billionbasepairsornucleo,des.• Adenine(A),Cytosine(C),Guanine(G),andThymine(T)
– DNAislongsequenceofthenucleo,des.• TheA-C-G-TleFers
– SingleNucleo,dePolymorphism(SNP)“snip”–asmall
gene,cchangethatoccurswithinaDNAsequence,
e.g.,anAtoaG.Occursinfrequently,e.g.,oncein
severalthousandyears-usedtodetermine
Haplogroup(yourancientancestry).
– Allhumansshare99.5%ofsameDNA.
DanHyde UsingDNATes,ngforGenealogy 4
Cell’sMitochondriahasownDNA
DanHyde UsingDNATes,ngforGenealogy 5
23pairsofChromosomes
makeupNuclearDNA
MitochondriahasseparateDNA
FactsaboutaCell’sMitochondria
• Inacell’scytoplasm,theyprovideenergyforthecell.
Hundredsinacell.
• MitochondrialDNA(mtDNA)–gene,cmaterial
passedfrommotherstotheirchildren,butonly
daughterspassiton.
• About16,000basepairsandSNPsoccur.• Usefulfortracingdirectmaternalline.
• Valuableforiden,fica,onofdegradedremains,e.g.,
athousand-yearoldtooth.
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ThreeDNATestsusefulforGenealogy
• Y-DNAtest–looksatmarkersonYchromosome
• Mitochondrialtest(mtDNA)–looksatmarkerson
MitochondrialDNA
• AutosomalDNAtest(atDNA)–looksatmarkerson
chromosomes1-22(nonsexones).
Eachtestisdis,nctwithownstrengthsandlimita,ons.
DanHyde UsingDNATes,ngforGenealogy 7
Called“Gene,cGenealogy”
FirstTest:Y-DNAtest
• MenpasstheirY-chromosomeononlytosons.
• Testlooksatmarkersonman’sY-chromosome.
• Cantest12,25,37,67,111markers.
• MarkersareShortTandemRepeats(STR)
– Inanon-codingregion,apaFernsuchas“AGAT”isrepeated.E.g.,AGATAGATAGAThas3repeats.
– STRsmutaterela,velyfast,say,oncein150years.
– Ex:markerDYS393isknowntorepeat“AGAT”from9
to17,mes.JohnandLeeJacksonbothhave13.
• OnlymalescantakeY-DNAtest.
• Y-DNA67testcostsabout$265.
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DNAY-chromosomeSequence
PedigreeChart
DanHyde UsingDNATes,ngforGenealogy 9
MoreonY-DNATest
Advantage:Y-DNAfollowssurnamepathinmostcultures.
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Limita4on:Onlysuppliesinforma,ononafewancestors!
Ex:5genera,onsback,amalehas62ancestors(parents,grandparents,etc.).
Y-DNAtestisonlyusefulforthesixdirectmales(man,hisDad,hisDad,etc.).
Y-DNAtes,ngprovidesnoinforma,onontheother56ancestors!
ResultonitsownrevealsliFle.Matcheswithothersarekey!
Y-DNAtestiss,llveryuseful!
-Canverifypapertrailalongsurnamepath.
-Canshowtwosurnamelinesarecloselyrelated.
-Canhelpdeterminefatherinanadop,onorillegi,macycase.
-Canhelpiden,fytheMostRecentCommonAncestor(MRCA).
MostRecentCommonAncestor
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Y-DNAResultsofJohnM.andLee
DanHyde UsingDNATes,ngforGenealogy 12
First25markersof67forLeeJackson(firstline)andJohnM.Jackson(secondline):
Seethefull67markerY-DNAresultsatFTDNA’sJacksonDNAGroup’swebsite:
hFp://www.familytreedna.com/public/Jackson/default.aspx?sec,on=yresults
LookforlabelnearboFom:StonewallBrigade
66of67markersarethesame.MarkerDSY534differsLee:14John:15
66/67meanswith95%probabilityMRCAinlast8genera,ons.
Confirmspapertrail–no“hidden”adop,ons,hanky-panky,surnamechanges,or
majorresearcherrors.ConfirmsY-DNAforJohnJacksonandallhisdirectmale
descendantsincludingStonewallJackson.
Frompapertrail:
LeeisdescendantfromJohnJackson,Jr.and6genera,onsfromJohnJackson.
JohnM.isdescendantfromHenryJacksonand8genera,onsfromJohnJackson.
SamuelLewisHaysCase
• Familytradi,on-SamuelLewisHays(1794-1871)wasillegi,mate
sonofGeorgeJackson,sonofJohnJackson.
DanHyde UsingDNATes,ngforGenealogy 13
• DancontactedbyJasonHickman,descendantofSamuelLewisHays.
ExcitementaboutresolvingSamuelLewisHays’case.
• Jason’spaternalgrandmotherwasHannahMace.Hergrandfather
wastheillegi,matesonofPeregrineHays,sonofSamuelLewis
Hays.
• Jason’scousinDonMacetookDNAtestandtoeveryone’s
surpriseheexactlymatchesseveralSharpes!
DanHyde UsingDNATes,ngforGenealogy 14
SamuelLewisHaysCase(cont.)
• GilmerCo.,WVdivorceproceedingsdissolvedJason’s3rd
GreatGrandmother,AnneHelmick’smarriagetoTimothy
McCune.Init,Anne’shusbandTimothyMcCuneandseveral
witnessestes,fyingonhisbehalfrevealthatshewasliving
withPeregrineHaysandhadbeenforseveralyears.Fromthis
affairseveralchildrenwereborn.Jason’s2ndGreat
GrandfatherPeregrineMace’sbirthentrylistsPerryHaysas
hisfather.
• TherecentDNAmatchwiththeSharpesprovesthisfalse
andmakesJasonbelievethatAnnewasfamiliarwithher
finalhusbandDanielSharpelongbeforetheyweremarried
inthe1860s.
SecondTest:mtDNATest
• LooksatmarkersinMitochondrialDNA.
DanHyde UsingDNATes,ngforGenealogy 15
• Gene,cmaterialpassedfrommotherstotheir
children,butonlydaughterspassiton.
• About16,000basepairsandSNPsoccur.• Somewhatusefulfortracingdirectmaternalline.
BUTmutatestooslowlyforgenealogy.
• Usedbygene,canthropologiststotracefemale
migra,onpaths.
• Morestableover,me.Valuableforiden,fica,onof
degradedremains,e.g.,atenthousand-yearoldtooth.
• Bothmalesandfemalescantaketest.Cost$200
HumanMigra,onPaths-Males
DanHyde UsingDNATes,ngforGenealogy 16
Gene,cAdam
~150,000yearsago
Jackson
Line
AncientAncestry–Y-DNAHaplogroups
DanHyde UsingDNATes,ngforGenealogy 17
JohnandLee’sY-DNA
haplogroup:R1b1a2 ~30,000yearsago
~25,000yearsago
Lastglacialperiod
20,000–12,000
yearsago
Test3:AutosomalDNATest-Newest
• Looksatmarkersonchromosomes1-22(nonsexones).
DanHyde UsingDNATes,ngforGenealogy 18
• WeinheritamixofautosomalDNAfrombothparents(about50%
each)butitisshuffledanddilutedwitheachnewgenera,on.
• Youshareabout50%atDNAwithasisterorbrotherbutadifferent50%witheachsibling!
• atDNAisscrambledwhenwoman’seggandman’sspermaremade.
• Backmorethan5genera,onstoodilutedtobeuseful.
• Candetermineifcloserela,ve,e.g.,g-aunt,isafullorhalfrela,ve.
• Candetermineifg-grandpaandg-grandmawerefirstcousins.
• Share25%ofagrandparent’s;12.5%g-grandparent’s;etc.
• Share12.5%with1stcousin;3%with2ndcousin;0.05%5thcousin
• Goodforfindingmatchesupto5thcousins.
• Commonancestorwitha5thcousinisaggg-grandparent.
• Problem:Needtodetermineasmanydescendantsfrom
your32ggg-grandparentsaspossible.
– Say,onaverage,5childrenfromeachunionlivetomarryand
havechildrenthat’s12,480possiblepeopletoresearchinthe
resul,ngfourgenera,ons!Yipes!
• Bothmalesandfemalescantaketest.Cost$99atFTDNA.
– FTDNAcallsFamilyFinder
– 23andMecallsRela,veFinder
– Ancestry.comcallsAncestryDNA
DanHyde UsingDNATes,ngforGenealogy 19
AutosomalDNATest(cont.)TakingDNATestisEasy!
• DNAtestsusedinGenealogyusesspecialmarkers
thatrevealnosensi,vemedicalinforma,onor
informa,onusefultoPolice.NofearofPolice
poundingonyourdoor!
• Scrapeinsideofcheekandmailtheswabin.
– Somecompaniesusesalivasample.
• Doneincomfortofyourhome.
• Hardestpartisnotea,ngordrinkingforthehourbefore!☺
DanHyde UsingDNATes,ngforGenealogy 20
TakingDNATestisEasy!
DanHyde UsingDNATes,ngforGenealogy 21
KitfromFamilyTreeDNA
DNATes,ngCompanies
• FamilyTreeDNA–focusesonDNAforgenealogy.
– Y-DNA;mtDNA;haplogroups;SNPs;atDNA(FamilyFinder)700,000markers;swabtest
• Ancestry.com–focusesongenealogy.
– atDNA(AncestryDNA),700,000markers;salivasample.
• 23andMe–focusesonhealthissuesandgenealogy.
– atDNA(Rela4veFinder),haplogroups-tensofthousandsofmarkers;salivasample.
• Gen2.0–focusesonhumanmigra,onpaFerns.
– Na,onalGeographicProject– SNPteststodeterminehaplogroups(ancientancestry)
– swabtest
DanHyde UsingDNATes,ngforGenealogy 22
ResourcesWebsites
JacksonBrigade’sDNAProject-hFp://www.jacksonbrigade.com/dna-project/
Interna,onalSocietyofGene,cGenealogy(ISOGG)-hFp://www.isogg.org
FamilyTreeDNA-hFps://www.familytreedna.com
AncestryDNA-hFp://dna.ancestry.com
23andMe-hFps://www.23andme.com
Geno2.0-hFps://genographic.na,onalgeographic.com
BooksonGene4cGenealogy1. TraceYourRootswithDNA:UsingGene:cTeststoExploreyourFamilyTreeby
MeganSmolenyakandAnnTurner,Rodale,2004.Bestsinglebookonsubject.
2. Hey,America,YourRootsareShowingbyMeganSmolenyak,CitadelPress,2012.
VerygoodfollowupofMegan’sfirstbook.
3. DNAandSocialNetworking:AGuidetoGenealogyintheTwenty-FirstCenturybyDebbieKenneF,TheHistoryPress,2011.Verygoodbook.
4. Gene:cGenealogy:TheBasicsandBeyondbyEmilyD.Aulicino,AuthorHouse,
2014.NotasgoodasMeganandAnn’sbookbutdiscussesrecentdevelopments.
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ResourcesBooksonAncientAncestry
• TheSevenDaughtersofEvebyBryanSykes,NortonPress,2001.Na,onalBestseller,veryreadablebookonthesciencethat
revealsourgene,cancestry.
• Saxons,Vikings,andCeltsbyBryanSykes,NortonPress,2006.Thegene,crootsofBritainandIreland.Veryreadable.
• JourneyofMan:AGene:cOdysseybySpencerWells,Random
House,2002.StoryofhumanoriginsinAfricaanddispersals
acrosstheworld.
• DeepAncestry:InsidetheGenographicProjectbySpencerWells,
Na,onalGeographic,2007.DescribestheNa,onalGeographic’s
GenographicProject.
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