human chromosomes – 23 pairs · 2016-08-13 · • deep ancestry: inside the genographic project...

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Using DNA Tes,ng for Genealogy Dr. Daniel C. Hyde Associate Professor of Computer Science Bucknell University Presented at Jackson Brigade Reunion, MarieFa, Ohio on August 5, 2016 Dan Hyde Using DNA Tes,ng for Genealogy 1 Three DNA Tests useful for Genealogy Y-DNA test – looks at markers on Y chromosome Mitochondrial test (mtDNA) – looks at markers on Mitochondrial DNA Autosomal DNA test (atDNA)– looks at markers on chromosomes 1-22 (non sex ones). First, some background in Biology to describe terms. Dan Hyde Using DNA Tes,ng for Genealogy 2 Called “Gene,c GenealogyHuman Chromosomes – 23 pairs Dan Hyde Using DNA Tes,ng for Genealogy 3 Pairs 1-22 are the Autosomal Chromosomes Sex Chromosomes Facts about Nuclear DNA 23 pairs of Chromosomes make up Nuclear DNA Over 3 billion base pairs or nucleo,des. Adenine (A), Cytosine (C), Guanine(G), and Thymine(T) DNA is long sequence of the nucleo,des. The A-C-G-T leFers Single Nucleo,de Polymorphism (SNP) “snip” – a small gene,c change that occurs within a DNA sequence, e.g., an A to a G. Occurs infrequently, e.g., once in several thousand years - used to determine Haplogroup (your ancient ancestry). All humans share 99.5% of same DNA. Dan Hyde Using DNA Tes,ng for Genealogy 4 Cell’s Mitochondria has own DNA Dan Hyde Using DNA Tes,ng for Genealogy 5 23 pairs of Chromosomes make up Nuclear DNA Mitochondria has separate DNA Facts about a Cell’s Mitochondria In a cell’s cytoplasm, they provide energy for the cell. Hundreds in a cell. Mitochondrial DNA (mtDNA) – gene,c material passed from mothers to their children, but only daughters pass it on. About 16,000 base pairs and SNPs occur. Useful for tracing direct maternal line. Valuable for iden,fica,on of degraded remains, e.g., a thousand-year old tooth. Dan Hyde Using DNA Tes,ng for Genealogy 6

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Page 1: Human Chromosomes – 23 pairs · 2016-08-13 · • Deep Ancestry: Inside the Genographic Project by Spencer Wells, Na,onal Geographic, 2007. Describes the Na,onal Geographic’s

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.

DanHyde UsingDNATes,ngforGenealogy 6

Page 2: Human Chromosomes – 23 pairs · 2016-08-13 · • Deep Ancestry: Inside the Genographic Project by Spencer Wells, Na,onal Geographic, 2007. Describes the Na,onal Geographic’s

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.

DanHyde UsingDNATes,ngforGenealogy 8

DNAY-chromosomeSequence

PedigreeChart

DanHyde UsingDNATes,ngforGenealogy 9

MoreonY-DNATest

Advantage:Y-DNAfollowssurnamepathinmostcultures.

DanHyde UsingDNATes,ngforGenealogy 10

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

DanHyde UsingDNATes,ngforGenealogy 11

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.

Page 3: Human Chromosomes – 23 pairs · 2016-08-13 · • Deep Ancestry: Inside the Genographic Project by Spencer Wells, Na,onal Geographic, 2007. Describes the Na,onal Geographic’s

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

Page 4: Human Chromosomes – 23 pairs · 2016-08-13 · • Deep Ancestry: Inside the Genographic Project by Spencer Wells, Na,onal Geographic, 2007. Describes the Na,onal Geographic’s

•  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.

DanHyde UsingDNATes,ngforGenealogy 23

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.

DanHyde UsingDNATes,ngforGenealogy 24