Genetic genealogy (also known as molecular genealogy) Your genes 46 chromosomes, 23 from each parent

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Scottish Genealogy Masterclass Dr Bruce Durie BSc (Hons) PhD OMLJ FSAScot FCollT FIGRS FHEA Shennachie to the Chief of Durie Shennachie to COSCA genealogist@duriefamily.co.uk www.brucedurie.co.uk Genes and Genealogy Surnames and ethnic origin Genetic genealogy (also known as molecular genealogy) Genetic genealogy (also known as molecular genealogy) Traditional genealogy when combined with DNA can lead us deeper into our ancestry than the written records can take us on their own. It is not a replacement for traditional genealogy. So why use it? 1. To get around brick walls 2. To find genetic cousins by matching haplotypes 3. To determine deeper ethnic/genetic ancestry by assigning someone to a haplogroup 4. (Possibly) to indicate geographic origin Bruce Durie 2015 1 Bruce Durie 2015 2 Bruce Durie 2015 3 What DNA testing cannot do 1. pinpoint the exact date and identify the specific ancestor shared by two individuals who have a close match 2. provide a complete answer to your recent ancestry even if two participants have a good paper trail 3. shed much light unless compared with the test results of other individuals 4. replace documentary genealogy Bruce Durie 2015 4 Your genes 46 chromosomes, 23 from each parent 22 pairs autosomes 1 pair sex chromosomes Male = YX Female = XX Bruce Durie 2015 5 Y-DNA: paternal line The Y-Chromosome determines gender As only men inherit the Y-chromosome it follows the direct male line (so women cannot test for it) As it does NOT have a pair it cannot be recombined It is passed down directly and nearly unchanged from father to son It accumulates changes (mutations) very slowly and is a rich source of information going back many generations A woman can use the DNA from her father, paternal uncle, brother, paternal male cousin etc. to reveal information about her paternal lineage Bruce Durie 2015 6 1

Y-DNA tests 1. The recommended test for genealogical purposes is 37 or 46 markers (67 has advantages) 2. Why 37 markers? 3. How can relationships be worked out? 4. The commercial tests: 37, 46 or 67 markers using STRs (short tandem repeats) 5. A 12 marker test will only tell you a haplogroup (and that you are Western European) - not sufficient for genealogical purposes 6. Use 12 markers as an introduction or to help disprove a connection Types of DNA testing For the purposes of genealogy there are four types, but we only typically use three of them: 1. Y-DNA: This follows the direct paternal line 2. mtdna or mitochondrial DNA: This follows the direct maternal line 3. Autosomal DNA: this uses DNA from all our ancestral lines 4. X-Chromosome not typically used Junk DNA: long stretches of DNA with no known function. These are especially good for genealogical purposes. Genetic genealogy does not tend to look at areas which affect our health (viz. concerns about life insurance). When a cell reproduces a copy error (called a mutation) may occur. Mutations occur very rarely but can be measured very accurately. This is done in different ways depending on the type of DNA analysed. Haplogroups 1. Each branch of the tree where a unique SNP has been identified has been given a letter. 2. These branches are called Haplogroups and define genetically related individuals. 3. There are both mtdna and Y-DNA haplogroups. Bruce Durie 2015 7 Bruce Durie 2015 8 Bruce Durie 2015 9 Haplogroups and sub-clades 1. Major Haplogroups (R, I etc.) define connections within tens of thousands of years. i.e. 10,000-40,000 years Haplotree Note: Defining SNP European migration : out of Africa? 2. These can be broken down by further SNPs into sub-clades. 3. Sub-clades are relevant to genealogical studies as they show relatedness to kin-groups i.e. 6000 B.C. 1500 A.D. (define indigenous and incoming groups and can show migration routes taken across Europe and Britain) Do watch this Bruce Durie 2015 10 Bruce Durie 2015 11 http://bradshawfoundation.com/journey/ Bruce Durie 2015 12 2

Migrations and Ethnic Groups Example of STR results Y-DNA haplotypes Marker DYS576 DYS393 DYS390 DYS19 DYS391 DYS385 DYS426 DYS388 DYS439 DYS389i Markers Name tested HaploGroup Andrew Durie of Durie 37 13 24 14 11 12 15 12 12 12 13 14 29 16 9 10 11 11 25 15 19 30 15 15 17 18 etc R1b1a2a1a1b4 Sir David Durie 67 13 24 15 10 11 14 12 12 13 13 13 29 17 9 10 11 11 24 15 19 29 15 15 16 17 etc R1b1a2 Dr. Bruce Durie 67 15 24 15 10 15 16 11 13 11 13 12 29 16 8 9 11 11 26 15 20 30 11 11 14 15 etc I2b1a DYS392 DYS389ii DYS458 DYS459 DYS455 DYS454 DYS447 DYS437 DYS448 DYS449 DYS464 Haplogroup confirmed by SNP tests Name Markers Paternal Ancestor Country Confirmed Origin Haplogroup Short Hand Andrew Durie of Durie 37 Gilbert de Durie ca 1261 John Durie of Durie ca. 1487 Scotland Fifa R1b1a2a1a1b4 R-L21 R-S145+ Bruce Durie 2015 Sir David Durie 67? Scotland? R1b1a2 R-M269 Gilbert de Durie ca 1261 John Dr. Bruce Durie 67 Durie of Durie ca. 1487 Scotland I2b1a I-M284 Fife Robert Wesley Durie 67? Scotland Laudonia R1b1a2 R-M269 13 Bruce Durie 2015 14 A collection of STR markers gives you a Haplotype which is your paternal signature Above are the 37 marker haplotypes of four individuals The top haplotype in blue is the modal signature for the group (average value for each marker) Each marker has been given a DYS number, such as position DYS576 Bruce Durie 2015 15 Y-DNA haplotypes Subclades of R R - R-M207/UTY2 * R1b1a2 - R-M269 * R1b1a2a1a1 - L11/S127 * R1b1a2a1a1a3, 439=null - R-L1, 439=null R1b1a2a1a1a4 - R-L48/S162 R1b1a2a1a1b - R-P312 R1b1a2a1a1b3c - R-L2/S1139 R1b1a2a1a2c - R-L21 R1b1a2a1a1b4b - R-M222 R1b1a2a1a1b5 - R-L176.2 R1b1a2a1a1b5a - R-M167/SRY2627 R1b1b2a1a R-U106 R1b1b2a1a1 R-U106 R1b1b2a1a2c - R-M167 R1b1b2a1a2f1- R-M37 R1b1c - R-V88 Grouped Not all tested to same level Kit Number Name Paternal Ancestor Name Markers Haplogroup Even within Groups, there is diversity DYS393 DYS390 DYS19 DYS391 DYS385 DYS426 DYS388 DYS439 DYS389i DYS392 DYS389ii DYS458 DYS459 DYS455 DYS454 DYS447 DYS437 DYS448 DYS449 I1 290539 Dr. Thomas Franklin Duryea 37 I M253 13 22 15 10 13 14 11 14 11 12 11 28 15 8 9 8 11 22 16 20 26 12 14 15 16 I2 134963 Dr. Bruce Durie Andrew Durie of Durie, ca. 1440 67 I L126 15 24 15 10 15 16 11 13 11 13 12 29 16 8 9 11 11 26 15 20 3011 11 14 15 R1b1a2 136096 Mr. Martin Lee Phillips Samuel Phillips c 1777 1838 25 R M269 13 22 14 11 11 14 12 12 13 13 13 29 18 9 10 11 12 25 15 19 29 13 15 17 17 141133 James Robert Durie 25 R M269 13 24 14 11 11 14 12 12 12 13 13 29 17 9 10 11 11 25 15 19 31 14 15 17 17 245613 Alistair John Lindsay Durie 67 R M269 13 24 14 11 11 14 12 12 12 13 13 29 17 9 10 11 11 25 15 19 31 14 15 17 17 350385 Bruce Duryea Joost DeRieux 37 R M269 13 24 14 11 11 15 12 12 12 13 13 29 17 9 10 11 11 25 15 19 30 15 15 15 16 333089 Mr. Phillip Richardson Duryea Joost Duryee or Duryea 67 R M269 13 24 14 11 11 15 12 12 12 13 13 29 18 9 9 11 11 26 15 19 3015 15 16 17 207922 Dr. Robert Wesley Durie 67 R M269 13 24 14 10 11 14 12 12 12 13 13 30 18 9 10 11 11 25 15 19 30 15 15 17 17 170863 Mr. John Dunlop Durie 37 R M269 13 24 14 10 11 14 12 12 12 13 13 30 18 9 10 11 11 25 15 19 31 15 15 17 17 137249 Sir David Robert Campbell Durie 67 R M269 13 24 15 10 11 14 12 12 13 13 13 29 17 9 10 11 11 24 15 19 29 15 15 16 17 252075 Ray Smith Campbell Jr. Joseph Campbell, Sr. (c1734) 111 R M269 13 24 15 11 11 14 12 12 11 13 13 30 17 9 10 11 11 26 15 19 29 15 15 16 17 R1b1a1a1a1a4a 213506 Mark Kent Duryee Joost Durie, b. 1650 and d. June 9, 1727 67 R L2 13 24 14 11 11 14 12 12 12 13 13 29 17 9 10 11 11 25 15 19 30 15 15 15 16 R1b1a2a1a2c 180079 Mr. Roger Alan Holmes (Adopted) Tom Allan / Allen 1941 67 R L21 13 24 14 10 11 14 12 12 13 13 13 30 18 9 10 11 11 25 15 19 30 15 15 17 17 27543 Mr. Tristan Beauchamp Russell John Dearie b.1772 and d. 1853 37 R L21 13 24 14 10 11 15 12 12 12 13 13 29 16 9 9 11 11 25 15 19 3015 15 16 17 158844 Andrew Durie Andrew Durie of Durie, ca. 1440 37 R L21 13 24 14 11 12 15 12 12 12 13 14 29 16 9 10 11 11 25 15 19 30 15 15 17 18 R1b1b2a 358024 Robert Durie 67 R M269 13 24 14 10 12 15 12 12 12 13 13 29 16 9 9 11 11 25 15 19 3015 15 16 17 R1b1b2a1b 273088 Michael Dury Michael Dury, b. 1851 and died 1914 67 R M269 13 24 14 11 11 14 12 12 13 13 13 29 16 10 10 11 11 25 15 19 30 15 17 17 17 DYS464 We can exclude these 290539 Dr. Thomas Franklin Duryea 37 I M253 I1 Finno-Scandic 134963 Dr. Bruce Durie L126/S165, L137/S166, L369 I2a2a1a1a1 Caledonian (Pict) 158844 Andrew Durie R-L21 R1b1a2a1a2c Known to be DEWAR Bruce Durie 2015 16 Bruce Durie 2015 17 Bruce Durie 2015 18 3

Dury/Duryea/Duryee are different 290539 Dr. Thomas Franklin Duryea 37 I M253 I1 Cannot be related to 350385 Bruce Duryea 37 R M269 R1b1a2 333089 Mr. Phillip Richardson Duryea 67 R M269 R1b1a2 Cannot be related to 213506 Mark Kent Duryee 67 R L2 R1b1a1a1a1a4a Cannot be related to 273088 Michael Dury 67 R M269 R1b1b2a1b We are not necessarily any closer to the Dinosaur Durie, and would encourage everyone to upgrade to 67 markers at least. Bruce Durie 2015 19 Bruce Durie 2015 Three pleas 1. Please upgrade to 67 markers Join the Scottish DNA Project - www.scottishdna.net 2. Please send us family trees (to TribalPages) 3. Please document your family trees The Baronial line Robert Durie of that ilk 1492-1554 Jonet Durie 1532-1576 Henry Kemp 1521-1562 David Durie of that ilk Robert Durie of that ilk (Sold Durie in 1614) Bruce Durie b. 1954 = I2a2a1-M284 but Y comes from Kemp) Finally Henry Durie of Craigluscar 1543-1591 The Chiefly line Abbot George Durie 1496-1577 Escaped to France 1560 Peter Durie of Rossend 1523-1614 Capt. George Durie 5 th of Craigluscar bef. 1637-1703 Captain, Garde Ecossais ca. 1678 Eliza Durie of Craigluscar 1837-1819 Dr. Andrew Dewar 1830-1895 John Durie (Jesuit) 1544-1588 George Durie (Jesuit) Andrew Durie Chief R1b1b2a1b5-L21 b. 1939 (but Y comes from Dewar) Bruce Durie 2015 21 = Went to France Fought in Flanders (and his brothers) STR markers 1. DYS576 is located at a known position on the Y-chromosome 2. The typical range of allele repeats expected for this marker is in the range 11 to 23 3. An allele changes through mutation but only rarely 4. Two of the men opposite share a value of 18, while the other two have mutated, one up, the other down 5. The average value, the modal is 18 for the four men 6. Markers have been identified as either fast (volatile) or slow mutating. In the chart below the fast markers are in maroon Y-DNA Glossary STR = short tandem repeat markers Marker = position measured on Y-DNA structure DYS marker = a number given to each marker and simply indicates the locus number in sequence of discovery Allele value = the count of the number of base pair tandem repeats Haplotype = a string of numerical values derived from different markers DNA signature = haplotype that belongs to an individual DNA study participant MRCA = Most recent common ancestor Modal = most commonly found value among a range of values SNP = mutation which has occurred only once at a specific position in a particular chromosome in a single individual Y-DNA: What is a match? These two haplotypes show a two marker mismatch on 37 markers This is written as 35/37 match FTDNA TIP Report 37 markers - Generations Percentage The probability that kit no. 69720 shared a common ancestor with 46281 in the last:...8 generations is 57.40%....12 generations is 85.81%....16 generations is 95.88%....20 generations is 98.90%....24 generations is 99.72%. If a generation is 30 years then they share a common ancestor 240-720 years ago. This may not seem very close, but. Bruce Durie 2015 22 Bruce Durie 2015 23 Bruce Durie 2015 24 4

Y-DNA: What is a match? 1. If the two men compare 67 markers they only have one further mismatch giving them a 64/67 match 2. They share a surname and both most distant ancestors lived within a mile of each other c.1750 3. This brings the TMRCA down to: 4. 210 years at 50% probability 5. 390 years at a 90% probability 6. Traditional genealogy suggests a TMRCA c.1700-1750 Genetic Distance by itself is a simplified measure of the total number of mutational differences between two individuals i.e. 64/67 means there is a genetic distance of 3. Bruce Durie 2015 25 Y-DNA Match A Y-DNA match using STR markers such as 37, 46, 67 etc, can also identify if you share a relationship with a known historical character or people group, but... The specific time (TMRCA) cannot be determined accurately i.e. Somerled or Niall of the Nine Hostages i.e. indigenous (Pict), Frisian (continential), Viking, etc Often an SNP test called a deep clade test is required to confirm that you fall into such a group as STRs do not give enough definition Unless one of your close matches have already undertaken such a test. (Costs abt. 60) Bruce Durie 2015 26 What is not a match 12 or 25 marker matches These can be significant if they are the same surname But tend to either indicate just a common ancient origin or are just chance convergence Ultimately either you, your match or both will need to upgrade to 37 or 67 markers. Bruce Durie 2015 27 Issues to consider if no match Recent mutations in your line Mutations can occur in any generation and at any time i.e. MacNeil 1 st cousins who have 3 mismatches Some of these mutations may be personal mutations in your line and can only be identified when your results are compared to others who share a common ancestor When identified they can narrow the gap to TMRCA NPE in your lineage! Test cousins and other lines You need to be proactive and target individuals Bruce Durie 2015 28 1. 37 markers is the minimum recommendation, 67 is better 2. Additional STR markers will refine your matches. The level that you choose depends on your goals The amount of testing already completed by others in a group project that you are joining The degree of certainty for a relationship (match) that you desire 3. For genealogical matching, the most important factor is the degree of certainty that your near or exact matches are indeed related to you in recent generations 4. Generally, testing additional STR markers will: Narrow the expected time to a common ancestor with an exact match Increase the degree of certainty for a near or exact match Reduce the number of irrelevant matches 5. Therefore, test what you can afford and need for your task and upgrade when necessary Bruce Durie 2015 29 What DNA testing can do 1. find connections between two individuals with the same surname 2. indicate roughly when two individuals shared a common ancestor 3. prove whether families with the same surname are related 4. eliminate individuals or families with the same surname as being related 5. identify and change of surname, variation in surname and use of alias 6. complement one-name studies - prove that everyone bearing the same surname are/are not related 7. reveal uncertain paternity through illegitimacy or adoption 8. help prove whether family stories and origin histories are true 9. test and corroborate conventional documentary research linking individuals and families 10. enable colonials and the descendants of diasporas to identify their geographical origins 11. track deep ancestral migration Bruce Durie 2015 30 5

and reveals deeper ancestral connections Traditional genealogy combined with Y-DNA confirms lineage and connection to other same surname families Bruce Durie 2015 31 Y-DNA Haplogroups 1. The most common haplogroup in the British Isles is R1b 2. But new SNP discoveries have created dozens of smaller branches called sub-clades (genetic clans) 3. These can be identified with specific migration and people groups 4. Haplogroup R1 is predominantly Scandinavian in origin 5. Haplogroup I1d James Naughtie = Angle from the continent, but 1000+ years ago to Scotland 6. Sub-clades are typically known by their SNP identifier i.e. M284 7. Letters before a SNP number designates the laboratory where they were first discovered 8. S145 - the classic Scottish indigenous marker 9. M222 spread from North of Ireland to Scotland 10. S21 Frisian > Anglo Saxon / West Germanic 11. L165/S68 Norse Viking West and Northern Highlands Bruce Durie 2015 32 What does Pict DNA look like? Haplogroup I2b1a1 - IslesSc Defined by SNPs M284+ (L126+) Found almost exclusively among the population of Great Britain, suggesting that the sub-clade may have a very long history on that island estimates suggest approximately 3,150 years! Haplotype might look like this: 15 24 15 10 15-16 11 13 11 13 12 29 16 8-9 11 11 26 15 20 30 11-11-14-15 Or this: Bruce Durie 2015 33 L165/S68 Norse Viking Deep Y-line ancestry: subclade of haplogroup R1b paternal kinship shared by MacNeils of Barra, the Buies of Jura, some MacDonalds and the core MacLeod lineage http://www.familytreedna.com/public/r- L165Project/default.aspx?section=yresults DNA does not support the MacNeils of Barra being connected in the direct paternal line to Niall of the Nine Hostages. Some MacNeils from the Southern Hebrides and the North of Ireland do match the Niall SNP R-M222 Bruce Durie 2015 34 Y-DNA: Ireland R-M222 Haplogroup Project Northwest Ireland/lowland Scotland first recognized in late 2004 following manual cluster analysis of STRs In late 2005 a research team from Trinity College Dublin published a report that identified this cluster In 2006 it was identified with SNP M222 Bruce Durie 2015 35 Haplogroup R-M222 (Niall expansion into Scotland) Bruce Durie 2015 36 6

Y-DNA: Haplogroup R1b Example R1b1a2 (M269) Y-DNA: Haplogroup I2b R- M269 Country Sampling sample Wales National 65 0.923 Spain Basques 116 0.871 Ireland National 796 0.854 Spain Catalonia 80 0.813 France Ille-et-Vilaine 82 0.805 France Haute-Garonne 57 0.789 England Cornwall 64 0.781 France Loire-Atlantique 48 0.771 France Finistère 75 0.76 France Basques 61 0.754 Check out https://en.wikipedia.org/wiki/haplogrou p_r1b_%28y- DNA%29#R1b1a2_.28R-M269.29 and http://www.worldfamilies.net/surnames/ cochran/results?raw=1 Spain East Andalucia 95 0.72 Spain Castilla La Mancha 63 0.72 France Vendée 50 0.68 France Baie de Somme 43 0.628 England Leicestershire 43 0.62 Bruce Durie 2015 37 Bruce Durie 2015 38 Bruce Durie 2015 39 Somerled R1a1a1h Haplogroup I1 M222 Niall Does Surname and DNA confirm history? Using over 1,300 tests from our database 1.We allocated (blind) surnames to Nations 2.We assessed whether their Y- HGs were typical of these Nations (they were!) 3.We assessed whether each Nation had a predominant HG (they did!) CONCLUSION Surname is a good predictor of ethnic origin, and fits with the historical story. Tracking Surname radiation from the 1881 census Figure 3 radiation of the surname MacDonald from the Western Isles, based on surname incidence in the 1881 census. Figure 4 the origin of the surname Durie is documented as being from Fife ca. 1261, and the surname incidence in the 1881 census confirms this. Figure 5 Elder is interesting, as it is represented by 15 subjects in this study, all from Angus and Fife, but with a number of haplotypes: I2b1 (2); J2 (1); R1b1a2 (11, including one R1b1a2a1a1b) So, we can be confident about Surname origins Bruce Durie 2015 40 Bruce Durie 2015 41 Bruce Durie 2015 42 7

DNA Resources 1. ISOGG International Society of Genetic Genealogy http://www.isogg.org/ 2. Check out the IGOGG wiki http://www.isogg.org/wiki/wiki_welcome_page 3. JOGG Journal of Genetic Genealogy http://www.jogg.info/ 4. 2011 Human evolution, migration and history audio files https://royalsociety.org/2011-human-evolution-dm-audio-/ 5. Learn Genetics - http://learn.genetics.utah.edu/content/extras/molgen/index.html 6. Blog Radio - http://www.blogtalkradio.com/stevestclair/2011/04/15/sinclairdna-and-bennett-greenspan-founder-of-ftdna Bruce Durie 2015 43 DNA tools 1. FTDNA TiP Tool 2. SMGF - http://www.smgf.org/ 3. Ysearch - http://www.ysearch.org/ 4. Mitosearch - http://www.mitosearch.org/ 5. Genebase - http://www.genebase.com/ 6. Dean McGee s Y-Utility - http://www.mymcgee.com/tools/yutility111.html 7. Jim Cullen s World Haplogroup Predictor - http://members.bex.net/jtcullen515/haplotest.htm Example: http://www.familytreedna.com/public/r- L165Project/default.aspx?section=yresults Bruce Durie 2015 44 DNA literature 1. Family History in the Genes, by Chris Pomery. 2007 (out of print) The National Archives. Amazon 11 copies available. 2. Trace your Roots with DNA, by Megan Smolenyak Smolenyak & Ann Turner. 2004. 3. DNA & Genealogy, by Colleen Fitzpatrick & Andrew Yeiser. 2005. 4. The Scots: A genetic journey, by Alastair Moffat and Jim Wilson. 2011. 5. The Seven Daughters of Eve, by Bryan Skyes. 2001 6. I Have the Results of My Genetic Genealogy Test, Now What?, by Blaine Bettinger. FTDNA website (www.ftdna.com). Bruce Durie 2015 45 8