DNA, Ethnicity, Genetics and Genealogy: Mapping History and Culture with Haplogroup Studies and Surname Research

1. DNA, Ethnicity, Genetics and Genealogy: Mapping History and Culture with Haplogroup Studies and Surname Research Workshop at Fourth International Conference on Diversity, Los Angeles, Tuesday, July 6, 5-6 p.m., Rm. 9, Conference Center, UCLA Sunset Village

2. Researching Your Anthropogenealogy and Family Ethnicity with DNA Presentation by Donald Panther-Yates DNA Consulting for History & Genealogy

3. Introduction • Walk through steps in researching • Direct male line (surname) • Matrilineal deep history (mtDNA) • Explain usefulness of gene banks • Y-STR Haplotype Reference Db • Cambridge Reference Sequence • Not to define ethnicity, not technical • About dnaconsulting.ws

4. Topics of Discussion • Definitions • History of • genealogy by genetics • DNA-based “anthropogenealogy” • Y-chromosomal route • mtDNA route • DNA Prints and other methods • Examples

5. Y Chromosome One of the two sex chromosomes, X and Y. The Y chromosome passes down from father to son. Females don't receive it. The fact that the Y chromosome goes down the paternal line is what makes it valuable for genealogy studies, since in general it follows a surname line.

6. X Chromosome X is the sex chromosome that is present in both sexes: singly in males and doubly in females.

7. Inheritance Chart

8. Branches and Twigs Haplogroups are the descents or mega-families that characterized early human migrations. They are normally associated with geographical regions. Examples: R1b (Western Atlantic European), I (northern Europe), J (Jewish, Middle Eastern). HaplotypeOne person's set of values for the markers that have been tested. Two individuals that match on all markers but one, have two distinct haplotypes. (One-step mutation)

9. Markers Markers are the site that is tested on the chromosome. Also known as sites, or loci. Names like DYS 390, DYS 285a. Scores or values on each marker are determined by how many STRs the double helix amino acids form – Short Tandem Repeats. Also called alleles. STR - Short Tandem RepeatsKnown also as microsatellite, an STR is a short DNA motif (pattern) repeated in tandem. ATGC repeated eleven times would give the marker a value of 11.

10. What is a gene? AlleleAlternative form of a gene. One of the different forms of a gene that can exist at a single locus . Bases Adenine is the "A" of the four bases in DNA that make up the letters ATGC. The other bases are thiamine (T), guanine (G) and cytosine (C). Adenine always pairs with thiamine, guanine with cytosine.

11. Mutation Mutation A heritable change that may occur in a gene in the form of a chemical rearrangement, or a partial loss or gain of genetic material, leading to a different number of repeats of a certain sequence (male) or change of one of the bases in a sequence (female). Mutation rateThe rate at which a mutation can happen.

12. Brief History of DNA Testing Gregor Mendel (19th cent.) Charles Darwin fils and cousin marriage Watson & Crick (double helix, 1953) Biotechnology (1970s-80s) Cavalli-Sforza Human Genome Project Cohen gene (1997)

13. Skorecki et al. 1997 Skorecki K, Selig S, Blazer S, Bradman R, Bradman N, Waburton PJ, Ismajlowicz M, Hammer MF (Jan. 1997).“Y chromosomes of Jewish priests.” Nature2;385(6611):32. 611):32.

14. Recent Developments • Brian Sykes • Family Tree DNA • Hammer & Nomenclature • Y-STR Haplotype Ref. Database • Cambridge Reference Sequence • Mitomap at Emory • Melungeon DNA Project by Elizabeth Hirschman • DNA Consulting for History & Genealogy • Prominent Researchers

27. 1. Verify the raw data for 12 target alleles from the original lab report source.2. Control for laboratory-specific testing parameters, known validity and reliability issues, and nomenclature.3. Perform a global search in the Y-STR Database for the haplotype. a. Search for truncated or mutational matches if unsatisfactory yield. b. Compute descriptive statistics for relevant countries. c. Establish bivariate research theses. d. Determine patterns, models, correlations, and other inferential statistics. e. Control for fast-moving markers and different mutation rates and estimate most recent common ancestor. f. Estimate risk factor of non-paternity events in line.

28. 4. Compare search results with the other available sequence databases (Ybase, Sorenson, Family Tree DNA) a. Repeat steps 3a.-3f, if necessary. 5. Search DNA Surname Projects. a. Correlate branches or allonymic (other surname) genealogies. b. Repeat steps 3a.-3f., if necessary. 6. Conduct chronological interactive search in relevant genealogy forums and e-mail discussion list threads at Rootsweb and other sites.

29. 7. Search WorldCat for archival papers, special collection materials, and unique titles.8. Check unpublished or password-protected databases, including: a. Subscriber-based information at Ancestry.com b. Melungeon DNA Surname Project (unpublished) c. JewishGen (need research code) d. Scottish Clans (partially private) e. Rabbinical genealogies (largely private) f. Native American genealogies (usually requires e-mail correspondence with owners) g. Human Genome Project (requires inputting correct gene sequence and glossary term) h. PubMed at the National Library of Medicine (may require publisher's password) i. Linkage literature and deep history of genotype (highly specialized).

30. 9. Read any library articles or order any required extra materials such as interlibrary loan books. 10. Adjust inferences and retest research thesis. 11. Conduct general Internet keyword and natural phrase searches. 12. Assemble data, design report, identify relevant standard definitions, maps, scientific boilerplate, disclaimers and notes, write thesis and customized highlights. 13. Compose in HTML, with correct links, illustrations, charts and references. 14. Save file in sendable format (usually zipped), back up, and store.

31. Atlantic Modal Haplotype DYS388 12DYS390 24DYS391 11DYS392 13DYS393 13DYS394 14 (also known as DYS19) If you have one mutation in either direction, then you are AMH 1.15+. The AMH 1.15 haplotype is also referred to as the Atlantic Modal Cluster or AMC. Generally 1.15+ puts you in haplogroup 1 (H1), but not always.

32. Y-STR Haplogroups C I R1a1 R1b E3b J

33. C I R1a1 E3b J

34. MtDNA Haplogroups J I N H A, B, C, D, X K

35. Single Nucleotide Polymorphisms SNPs are used to: Determine/confirm haplogroup affiliation Find Cohanim pattern (in J2) Subdivide haplogroups into sub-haplogroups, subclades (I1b2, I1b*, K1, K2) Drug research, protein coding, disease linkage/screening, and gene therapy

36. Other Methods Genetic profile (DNA Print) Human Lymphocyte Antigens Polymorphic Alu insertions No practical way to test “cross-over” lines of descent Ancient DNA (problematical)

37. Cooper Haplotype in Y-STR Reference Database • SNP test by FTDNA indicates R1b • Hundreds of surname matches • England modal country match • Matched • Elizabeth Hirschman (Caldwell) • My wife’s Ramey cousin • Much of Clan Stewart

45. Cooper Haplotype Distribution

48. Nina Jo Newberry with son Ken

49. “Newberry” Distribution in Y-STR Db

50. Frequencies of Haplogroup I and Sub-haplogroup I1a in Select European Populations French (Low Normandy) 24/12 South Sweden 41/36 Germany 38/25 Saami (Finland) 31/29 Portuguese 5/1.3 English 18/NA Jewish 1/1 Source: Rootsi et al (2004)