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

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1 Scottish Genealogy Masterclass Dr Bruce Durie BSc (Hons) PhD OMLJ FSAScot FCollT FIGRS FHEA Shennachie to the Chief of Durie Shennachie to COSCA 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 Bruce Durie Bruce Durie 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 Your genes 46 chromosomes, 23 from each parent 22 pairs autosomes 1 pair sex chromosomes Male = YX Female = XX Bruce Durie 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

2 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 Bruce Durie Bruce Durie 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 B.C A.D. (define indigenous and incoming groups and can show migration routes taken across Europe and Britain) Do watch this Bruce Durie Bruce Durie Bruce Durie

3 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 etc R1b1a2a1a1b4 Sir David Durie etc R1b1a2 Dr. Bruce Durie 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 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 Scotland I2b1a I-M284 Fife Robert Wesley Durie 67? Scotland Laudonia R1b1a2 R-M Bruce Durie 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 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 I Dr. Thomas Franklin Duryea 37 I M I Dr. Bruce Durie Andrew Durie of Durie, ca I L R1b1a Mr. Martin Lee Phillips Samuel Phillips c R M James Robert Durie 25 R M Alistair John Lindsay Durie 67 R M Bruce Duryea Joost DeRieux 37 R M Mr. Phillip Richardson Duryea Joost Duryee or Duryea 67 R M Dr. Robert Wesley Durie 67 R M Mr. John Dunlop Durie 37 R M Sir David Robert Campbell Durie 67 R M Ray Smith Campbell Jr. Joseph Campbell, Sr. (c1734) 111 R M R1b1a1a1a1a4a Mark Kent Duryee Joost Durie, b and d. June 9, R L R1b1a2a1a2c Mr. Roger Alan Holmes (Adopted) Tom Allan / Allen R L Mr. Tristan Beauchamp Russell John Dearie b.1772 and d R L Andrew Durie Andrew Durie of Durie, ca R L R1b1b2a Robert Durie 67 R M R1b1b2a1b Michael Dury Michael Dury, b and died R M DYS464 We can exclude these Dr. Thomas Franklin Duryea 37 I M253 I1 Finno-Scandic Dr. Bruce Durie L126/S165, L137/S166, L369 I2a2a1a1a1 Caledonian (Pict) Andrew Durie R-L21 R1b1a2a1a2c Known to be DEWAR Bruce Durie Bruce Durie Bruce Durie

4 Dury/Duryea/Duryee are different Dr. Thomas Franklin Duryea 37 I M253 I1 Cannot be related to Bruce Duryea 37 R M269 R1b1a Mr. Phillip Richardson Duryea 67 R M269 R1b1a2 Cannot be related to Mark Kent Duryee 67 R L2 R1b1a1a1a1a4a Cannot be related to 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 Bruce Durie 2015 Three pleas 1. Please upgrade to 67 markers Join the Scottish DNA Project Please send us family trees (to TribalPages) 3. Please document your family trees The Baronial line Robert Durie of that ilk Jonet Durie Henry Kemp David Durie of that ilk Robert Durie of that ilk (Sold Durie in 1614) Bruce Durie b = I2a2a1-M284 but Y comes from Kemp) Finally Henry Durie of Craigluscar The Chiefly line Abbot George Durie Escaped to France 1560 Peter Durie of Rossend Capt. George Durie 5 th of Craigluscar bef Captain, Garde Ecossais ca Eliza Durie of Craigluscar Dr. Andrew Dewar John Durie (Jesuit) George Durie (Jesuit) Andrew Durie Chief R1b1b2a1b5-L21 b (but Y comes from Dewar) Bruce Durie = 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 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 shared a common ancestor with in the last:...8 generations is 57.40% generations is 85.81% generations is 95.88% generations is 98.90% generations is 99.72%. If a generation is 30 years then they share a common ancestor years ago. This may not seem very close, but. Bruce Durie Bruce Durie Bruce Durie

5 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 This brings the TMRCA down to: years at 50% probability years at a 90% probability 6. Traditional genealogy suggests a TMRCA c 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 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 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 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 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 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

6 and reveals deeper ancestral connections Traditional genealogy combined with Y-DNA confirms lineage and connection to other same surname families Bruce Durie 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 years ago to Scotland 6. Sub-clades are typically known by their SNP identifier i.e. M 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 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: Or this: Bruce Durie 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 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 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 Haplogroup R-M222 (Niall expansion into Scotland) Bruce Durie

7 Y-DNA: Haplogroup R1b Example R1b1a2 (M269) Y-DNA: Haplogroup I2b R- M269 Country Sampling sample Wales National Spain Basques Ireland National Spain Catalonia France Ille-et-Vilaine France Haute-Garonne England Cornwall France Loire-Atlantique France Finistère France Basques Check out p_r1b_%28y- DNA%29#R1b1a2_.28R-M and cochran/results?raw=1 Spain East Andalucia Spain Castilla La Mancha France Vendée France Baie de Somme England Leicestershire Bruce Durie Bruce Durie Bruce Durie 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 Bruce Durie Bruce Durie

8 DNA Resources 1. ISOGG International Society of Genetic Genealogy 2. Check out the IGOGG wiki 3. JOGG Journal of Genetic Genealogy Human evolution, migration and history audio files 5. Learn Genetics Blog Radio - Bruce Durie DNA tools 1. FTDNA TiP Tool 2. SMGF Ysearch Mitosearch Genebase Dean McGee s Y-Utility Jim Cullen s World Haplogroup Predictor - Example: L165Project/default.aspx?section=yresults Bruce Durie DNA literature 1. Family History in the Genes, by Chris Pomery (out of print) The National Archives. Amazon 11 copies available. 2. Trace your Roots with DNA, by Megan Smolenyak Smolenyak & Ann Turner DNA & Genealogy, by Colleen Fitzpatrick & Andrew Yeiser The Scots: A genetic journey, by Alastair Moffat and Jim Wilson The Seven Daughters of Eve, by Bryan Skyes I Have the Results of My Genetic Genealogy Test, Now What?, by Blaine Bettinger. FTDNA website ( Bruce Durie