genetic genealogy: what can dna testing tell me about my ... · genetic genealogy: what can dna...

Genetic Genealogy:What Can DNA Testing Tell Me

About My Ancestry?

John M. Butler, PhD

November 7, 2015

Family History Conference (Charlottesville, VA)

Top Ten… Reasons You May Have

Decided to Attend This Presentation

10. You know my wife

and she threatened to

take you off of our

Christmas card list if

you didn’t come and

support me today.

Terilynne has

the “Wright” stuff



9. You are hoping I will show scientific proof

that Wahoos really are genetically superior

to Hokies.



8. You thought DNA stood for the National

Dyslexia Association and wanted to join.F

rom

Go

og

le im

ag

es



7. You wanted a morning nap and thought that a

scientific topic might be the best way to get

some extra sleep



6. You came to see if DNA could verify that

Mahonri Moriancumer was the Brother of

Jared.



5. You are looking for a good recipe for a

new jello salad…

A DNA jello salad that I made for a ward

party to celebrate the 50th anniversary

of the double helix in April 2003



4. You have been watching too much CSI: Crime

Scene Investigation and you are “dying” to

learn more about DNA.



3. Being from Charlottesville, you want to

know if DNA can prove that Thomas

Jefferson fathered Sally Heming’s children



2. John Butler? – I thought this was

John Bytheway!



1. You slept through the previous

presentation and are now just waking up

to discover that a new class has started!

Welcome to this Class on DNA

I have decided to dedicate this presentation to

the memory of my father-in-law Willard Wright

Although Willard

passed away 28 years

ago (18 Dec 1987),

some of his DNA lives

on in my children…

We Live in the “Genomics Age”

• A genome is the complete DNA sequence

(instruction book) for an organism

• 1953 – DNA structure described by Watson & Crick

• 1995 – first genome of a living organism

• June 26, 2000 – announcement of human genome

draft sequence

• April 25, 2003 – completion of the human genome

reference sequence

• November 2015 – thousands of human genomes

have been sequenced

Other organisms completed (dog, rice, duck-billed platypus, etc.)

What is Fueling Growth in Genomics?

• New DNA sequencing technologies

• More powerful computers

• Globalization of science

• Interest of the public in ancestry testing

• Value to medical research

• Passage of GINA

– Genetic Information Nondiscrimination Act

– Signed by President Bush May 21, 2008

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The Human DNA Genome within a Cell

Nuclear DNA(3.2 billion bp)

Mitochondria = the power

houses for the cell

(hundreds per cell)

Mitochondrial DNA(16,569 bp)

The Nucleus = control

center for the cell

(one per cell)

Inherited from only

your motherInherited from both

your mother and your father

Autosomes – 22 pairs – 2 copies per cell

Cell Nucleus – 3 billion bp

Sex Chromosomes (XX or XY)

mitochondria – in cell cytoplasm

100s of mtDNA copies per cell

Father’s Sperm Mother’s Egg

Child’s Cell

Father’s

Sperm

Mother’s

Egg

Father contributes: 22 autosomes (1 of each pair), X or Y

Mother contributes: 22 autosomes (1 of each pair), X and mtDNA

Genetic Inheritance

Nuclear

DNA

Mitochondrial

DNA

Current scientific thinking:

•~99.9% of 6 billion letters (2 x 3 billion bp)

are the same between people

•This 0.1% is still ~6 million differences

Genetic Markers Examined

with Ancestry Testing

Y chromosome

– Passed from father to son without change (unless a

mutation occurs)

– Two types of genetic markers are typically examined:

• Y-STRs (short tandem repeats) – provides finer detail

• Y-SNPs (single nucleotide polymorphisms) – big picture view

mtDNA

– Passed from mother to offspring without change (unless

a mutation occurs)

– Typically a section of the 16,569 bp mtDNA is sequenced – a

haplogroup is assigned by presence of specific DNA mutations

Four-Generation Genealogical Pedigree

9

10

11

12

13

14

15

4

5

6

7

2

3

1

8

Individual

Parents

Grandparents

Great-grandparents

A Genetic Pedigree is typically shown

Vertically rather than Horizontally

9 10

11

12

13

14

15

4 5 6 7

2 3

1

8

male

female

parents

offspring

deceased

LEGEND

A Four-Generation Pedigree

1

2

3

4

Autosomal DNA

1/8 from Great-grandparents

male

female

parents

offspring

deceased

LEGEND

Lineage Markers:

Y-Chromosome

Y chromosome

passed along

paternal lineage

Autosomal DNA


Lineage Markers:

Y-Chromosome and Mitochondrial DNA

Y chromosome

passed along

paternal lineage

Autosomal DNA


mtDNA genome

passed along

maternal lineage

So to Review…

Y-chromosome testing could have helped

Luke Skywalker to confirm this information

Luke,

I am your

father…

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.png Lineage Markers Only Provide a Small

Window to the Past

ChrY mtDNA

Categories of Ancestry Testing

• Deep Ancestry (“Genetic Geography”)

– Looking for relationships from >1000 years ago

– Offers a big picture view of our past

– Involves testing with lower resolution genetic markers

(e.g., Y-SNPs) to determine Haplogroups

• Genetic Genealogy

– Looking for relationships from <1000 years ago

– Tries to provide a link between related people

– Involves testing with higher resolution genetic

markers (e.g., Y-STRs) to determine Haplotypes

Group comparisons

Individual comparisons

Gen

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Building

Continent

2000 mi scale

50 ft scale(~200,000x)

A Comparison with Maps (to Illustrate Scales and Resolution of Detail)

Country State Region

County City Campus

http://maps.google.com/

Deep Ancestry (markers with lower mutation rates – Y-SNPs - Haplogroups)

Genetic Genealogy (markers with higher mutation rates – Y-STRs - Haplotypes)

Individual

Methods for Studying Deep Ancestry(Human Migrations Throughout Time)

• Examination of living individuals

– Sampling from aboriginal (native) peoples, where possible

– Making assumptions regarding the past associations

of population groups

• Analysis of ancient DNA

– Recovering DNA from fossil remains, which

unfortunately are few and far between

– Provides a peek into the past (for a single individual)

The Genographic Project

• Funded $50 million for 5 years by IBM and National Geographic

• Have gathered and run DNA samples from ~50,000 people around the world with Y-SNPs and mtDNA

• For U.S. participants, FamilyTree DNA lab is running 12 Y-STRs or sequencing mtDNA HV1 (as of April 2010 more than 350,000 people had bought a test kit)

https://genographic.nationalgeographic.com/

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John Relethford

“Although working in

such a young and

developing field is

exciting, it is also

frightening because

the knowledge base

changes so rapidly.”

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Genetics and the Search for Modern

Human Origins (2001), p. 205

John Relethford

“We must be careful not to

make too many inferences

about earlier populations

based on the genetic

composition of living

populations. Populations

change over time, and the

more time that elapses,

the greater the difficulty of

using living samples as

proxies for earlier ones.”htt

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Reflections on Our Past (2003), p. 143

Genetic

Genealogy

Tracing your roots

with DNA

Differences in DNA Studies

• Deep Ancestry – analysis of population groups to try and

get a big picture view of human history (involves lots of

assumptions)

• Genetic Genealogy – comparing individuals living today

to see if they are genetically similar and thus may have a

common ancestor (may not enable all desired links)

• Forensic/Paternity DNA Testing – directly matching

results from evidence to suspect or first-degree biological

relatives (e.g., parents or children)

All three approaches may use the same genetic markers

(e.g., mtDNA or Y-STRs) but use different reference samples

and provide different levels of confidence in the results

Perhaps the Real Reason Some Genetic

Genealogy Is Performed…

Some of the Genetic Genealogy Companies

This is a very rapidly growing field with a lot

of interest from the general public…

http://www.oxfordancestors.com

http://www.familytreedna.com http://www.relativegenetics.com

http://www.sorensongenomics.com

http://dna.ancestry.com

https://www.23andme.com/

http://www.familytreedna.com/default.asp

http://www.familytreedna.com/default.asp

http://www.genetree.com/index.php

http://www.genetree.com/index.php

http://www.sorensongenomics.com/index.htm

http://www.sorensongenomics.com/index.htm

What is involved in a DNA ancestry test?

• You pay a company money

• You supply a sample of your DNA (through swabbing the inside of your mouth to collect cheek cells)

• You wait for several weeks for the company to send you results from their test(s)

• You try and understand the results of their test(s)

• You search the company’s database of DNA results hoping to find a relative

• You try and recruit potential distant relatives to contribute their DNA so that your efforts will be meaningful

• Then you set up a website with your results and blog about your success or failure!

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Ancestry DNA Tests (Using Lineage Markers)

Y-Chromosome Tests, which examine

genetic traits passed on from father to

son, provide only a partial picture of the

past paternal lineage

Mitochondrial DNA (mtDNA) Tests,

which examine genetic traits passed

on from mother to children, provide

only a partial picture of the past

maternal lineage

Someone living today

= male

= female

The genetic signatures of many

ancestors (and people alive years ago

without living descendants) are never seen

when testing modern DNA samples

Ancestor 1

Ancestor 2

Ancestor 3

International Society of Genetic Genealogy

http://www.isogg.org

An excellent resource for further

information on genetic genealogy

including cost comparisons between

the various DNA testing companies

http://www.isogg.org/wiki/List_of_DNA_testing_companies

http://www.isogg.org/wiki/Autosomal_DNA_testing_comparison_chart

http://www.isogg.org/wiki/MtDNA_testing_comparison_chart

http://www.isogg.org/wiki/Y-DNA_STR_testing_chart

http://www.isogg.org/wiki/Y-DNA_SNP_testing_chart

Ugo Perego

(Consultant)

Katherine

Borgess

(ISOGG)

Miguel Vilar

(Genographic

Project)

John Butler

(NIST)

August 16, 2014 at

International Genetic

Genealogy Conference

ISOGG Y-DNA Testing Comparison Chart

http://www.isogg.org/wiki/Y-DNA_testing_comparison_chart

Chart revised on: September 10, 2015

Comparative Data for the 3 Major Genetic

Genealogy Testing Companies

*Note: 23andMe matches must be invited to share and communicate.

Services were at one time provided for customers with both medical and genealogy interests.

Approximately 30-40% of customers will not respond to genealogic sharing requests.

**Note: 23andMe Y- DNA results (SNP marker) can not be compared directly with Family Tree DNA (STR marker) results.

Deep ancestry (or more general interpretations of Y-DNA haplotype groups) can be compared.

Company Number of Typings As of Test Cost Marker Type Number of Markers

Autosomal DNA

23andME *700,000+ 2014 $99 SNP 577,382

Ancestry.DNA 400,000+ 30-May-14 $79, $99 after 8/25/2014 SNP 682,549

Family Tree DNA 42,828 21-Aug-14 $99 SNP 708,092

Y-DNA

23andME *700,000+ 2014 **included with autosomal test SNP Haplogroup by SNPs

Ancestry.DNA Not Tested 30-May-14 NA NA NA

Family Tree DNA 512,503 21-Aug-14 **$169-$359 STR 37-111

Mt-DNA

23andME *700,000+ 2014 **included with autosomal test SNP Haplogroup by SNPs

Ancestry.DNA Not Tested 30-May-14 NA NA NA

Family Tree DNA 183,651 21-Aug-14 **$59-$199 SEQ HVR1&2/Full Seq

Slide prepared courtesy of Dr. Eric Williams (August 2014 for BYU Education Week)

Size Matters with Genetic Genealogy

DNA Databases

• The more individuals that have been tested

and can be searched, the greater the chance

to match a relative.

Claim on FamilyTree DNA website: Our database is the

largest in the field of Genetic Genealogy. As of August 20,

2014, the Family Tree DNA database has 696,154 records.

http://www.familytreedna.com/

75 matches

8 of top 10

are “Butler”

http://www.ysearch.org/

9. Edmund Butler (1694-1747)

8. William Butler (1740-1790)

7. James Butler (1770-1835)

6. John Lowe Butler (1808-1860)

5. James Butler (1847-1900)

4. John Topham Butler (1879-1940)

3. Karl Douglas Butler (1910-2002)

2. Karl Douglas Butler Jr. (1942- )

1. John Marshall Butler (1969- )Marshall Scott Butler (1998- )

Ethan Samuel Butler (2004- )

America (VA, NC, KY, … MD)

26. Theobald Fitz Walter, 1st Butler (1165-1206)

25. Theobald Le Botiller (1200-1285)

24. Theobald Butler 3rd Butler of Ireland (1223-1248)

23. Theobald Boteler 4th Butler of Ireland (1242-1285)

22. Edmund Le Botiller (1275-1321)

21. James Butler Sir (1304-1338)

20. James Butler “The Noble” 2nd Earl (1331-1405)

19. James Richard Butler, 3rd Earl (1361-1405)

18. James le Botiller Earl of Ormond (1392-1452)

17. Thomas le Butler Earl of Ormond (1426-1515)

16. Pierce Butler Earl of Ormond (1467-1539)

15. Sir James Butler (1496-1546)

14. Walter Butler of Nodstown (1538-1560)

13. Pierce Butler (1558-1627)

12. James Butler (1586-1633)

11. John Butler (1616-____)

10. Samuel Butler (1654-1718)

Ireland (Kilkenny & Tipperary)

I have an Irish Y-chromosome!

33 Generations on my direct Butler line based on FamilySearch.org (as of 6 Nov 2015)

France and England

33. Richard I, Duke of Normandy (933-___)

32. Geoffrey, Count D’Eu & Brionne (953-___)

31. Gilbert Fitzgeoffrey de Brionne (985-1030)

30. Richard FitzGilbert de Clare (1030-1091)

29. Gilbert FitzRichards de Clare (1055-1114)

28. Hervey de Clare (1085-____)

27. Hevery II de Clare (1125-____)

Kilkenny Castle in Kilkenny, Ireland

• Original stone castle completed in 1213

• Purchased in 1391 by James Butler, 3rd Earl of Ormond

• Butlers lived here until 1935

• Turned over to the people of Kilkenny in 1967

https://en.wikipedia.org/wiki/Kilkenny_Castle

Thomas Jefferson II

Field Jefferson Peter Jefferson

President

Thomas Jefferson

Eston Hemings Thomas Woodson

Different Y Haplotype

Same Y

Haplotype

Jefferson

Y Haplotype

Jefferson

Y Haplotype

?

Figure 9.10, J.M. Butler (2005) Forensic DNA Typing, 2nd Edition © 2005 Elsevier Academic Press

Historical Investigation of Jefferson-Hemings DNA

SOURCE: Foster et al. (1998) “Jefferson

fathered slave’s last child.” Nature 396:27-28

What if

false

paternity

later?

Does DNA Prove that Jefferson

Fathered His Slave’s Children?

• Other male Jeffersons

could be the father

(known to be 25 male

Jeffersons living in

Central Virginia then)

• Thomas Jefferson’s

younger brother

Randolph was friendly

with the slaves

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No!

Lessons from Jefferson-Hemings Case

• Tests cannot be fully conclusive although

interesting possibilities were shown

– False positive – other male Jeffersons could be the

father (25 male Jeffersons lived in the area)

– False negative – a single instance of non-paternity

could break the lineage (e.g., Thomas Woodson?)

• Similar to DNA and Book of Mormon controversy

in that the press and public extrapolate beyond

what is scientifically possible or appropriate to

state as valid conclusions

Thank you for your attention!http://w

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genetic genealogy: what can dna testing tell me about my ... · genetic genealogy: what can dna...

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