USING DNA TO UNDERSTAND OUR FAMILY HISTORY

USING DNA TO UNDERSTAND OUR FAMILY HISTORY

Lindsey L. Heard with Grandson

Dedication – This Article is dedicated to LINDSEY L. HEARD. Lindsey was the youngest, and last survivor of the 12 children of James Addison Heard and Clora Frances Nolen Heard.  He passed away on Dec. 26, 2016, after spending a final Christmas surrounded by his loving family.  In the last year of his life, he participated in Y-DNA and autosomal DNA testing with Family Tree DNA, leaving all of our Heard Family a final gift.  He was a dear, gentle, loving man, who embodied the Christian ideal, and set an example for all of us.

PURPOSE -- The following is a quick (and dirty) introduction to Genetic Genealogy.  In order to share DNA findings with each of my family groups, I have written this "Introductory Overview."  I am writing (or have written)  reports for each branch of my family, and this blog is intended to offer background information for understanding these reports.  I am not an expert in genetic genealogy and the field is rapidly changing and expanding; so please forgive my errors.  I have included links and references.  Most importantly, I want to introduce you to the most complete and up-to-date source of information in the field -- THE INTERNATIONAL SOCIETY OF GENETIC GENEALOGISTS.  I urge you to join (it is free) and keep up with advances..  This is your  link to ISOGG. https://isogg.org

TRADITIONAL GENEALOGY VS. GENETIC GENEALOGY -- I come from a long line of story-tellers and genealogists.  Virtually every branch of my family has had at least one avid genealogist.  While not all family members are researchers, they are almost all interested in family history. With the advent of Genetic Genealogy, many or my relatives (to date about 20 close kin and over 10,000 more distant relatives) are participating. The Genetic Genealogy Cheatsheet (by Blaine Bettinger and Family Tree Magazine) summaries salient features of the two approaches:

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THREE TESTS USED IN GENETIC GENEALOGY -- 
Y-DNA; MtDNA; and aDNA

A schematic of our 23 chromosomes helps orientate us to the three tests currently used in genetic genealogy.

You will note that we have 23 pairs of chromosomes, and 22 of these are identical.  The 23rd is the sex chromosome.  We know the individual used as a model for this schematic was male because his 23rd chromosome has both an X and a Y.  Only males have a Y.  Females have two X's.  A male receives his Y chromosome from his Father, and an X chromosome from his Mother.  A female gets one X from her Mother and one X from her Father.  As you may have guessed, two of the three current DNA tests are related to these variables. 

 First, a Male's Y-DNA can be tested to identify his forefathers.   X-DNA from Males and Females may also be analyzed but is not as useful.   Second, your Autosomal DNA  (aDNA) from the other 22 chromosomes can be analyzed. These are passed from parent to child, with each child receiving half from their Father and half from their Mother. These two tests use Nuclear DNA (so named because the genetic material is taken from cell nuclei).  The Third test does not use nuclear DNA.  Instead it tests the DNA of the mitochondria found in the plasma of most cells  (MtDNA).

Mitochondria are often called the "powerhouse" of the cell because they are a source of cellular energy.  Each Mitochondrion has a genome that is independent of the genes of the host cell.  Mitochondrial genomes are very similar to bacterial genomes. Sone writers even consider Mitochondrion to be an ancient bacterial invader of our cells.  Mitochondrion are passed from Mother to child.  While both males and females have Mitochondrial DNA, and are eligible to have MtDNA tests, only Females can pass Mitochondrial DNA to their children.

The contrast between Nuclear DNA and Mitochondrial DNA  is illustrated in the following graphic:

 Basically Y-DNA tracks the male line of ancestors (father's father's father etc.) while MtDNA tracks the maternal ancestors (mother's mother's mother etc.) This chart works as long as the "YOU" is a male, since a female does not have Y-DNA.  Y-DNA owes at least a portion of its popularity to its relationship to surname.  Surnames as we use them today were adopted in Western Europe between the 14th and 17th centuries.  Y-DNA genealogy research is often organized in terms of Surname Projects.  You can join the Jackson, Heard, Adams, etc. Surname research project, upload your Y-DNA results, and wait for matches to be reported.  

Kyle Jackson and James "Jimmy" Heard were the first family members to trace their Y-DNA.  Kyle used FTDNA to trace our JACKSON Line and Jimmy used National Geographic DNA to trace our HEARD Line.  Since then, using Family Tree DNA (FTDNA), Charles Freeman has traced his FREEMAN ancestors; Lee Gains Nunley traced the NUNLEY Line; Lindsey Heard traced the HEARD Line; and David Adams traced our ADAMS ancestors.  

Using FTDNA, I did MtDNA testing to trace my Maternal Ancestors.  With the female line, the Surname changes every generation, so it can be complicated.  For example, my MtDNA came to me from Myrtis Lee Heard Jackson, from Clora Frances Nolen Heard, from Maria Theresa Jones Nolen, from Caroline Jelks Jones, from Elizabeth Merritt Jelks (whose Mother I have not identified). While Clora Frances Nolen Heard had 12 children, her MtDNA is shared today only by myself, my daughters and granddaughters, and Barbara Ann Ballis Able, and her daughters and granddaughters.

Y-DNA and MtDNA are relatively straight forward, but X-DNA is more complicated with each generation.  For example, I know that I have one X gene that came to me from my Father's Mother (my Paternal Grandmother, Ida Belle Adams Jackson).  I also have an X gene that came to me from my Mother.  However, I don't know whether the X gene I received from my Mother came from her Mother (my Maternal grandmother Clora Frances Nolen Heard) or from her Father (my Maternal grandfather, James Addison Heard, who would have received his X from his mother, Sarah Adeline Lindsey Heard).  And if this description of X confuses you, welcome to the club (it confuses me too). Thus far, rather limited use has been made of X-DNA in genetic genealogy.  However, it is anticipated that the future holds more sophisticated uses and analyses of X-DNA. 

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At this time, I believe only ONE Company tests Y-DNA and MtDNA.  That company is FAMILY TREE DNA, located in Houston, TX.  Oxford Ancestors, which led the way in MtDNA testing, left the market in 2018.  At one time National Geographic tested Y and Mt DNA, but I do not know if they are still doing these tests. The other established companies (including ANCESTRY DNA and 23 AND ME) currently only test Autosomal DNA (the other 22 chromosomes).  Ancestry DNA once offered all three tests, but dropped Y-DNA and MtDNA several years ago.  It goes without saying that Autosomal DNA is the most popular, and most widely used approach in genetic genealogy.  

TIME AND DNA

In large part, choosing the "RIGHT" DNA TEST for your purpose depends on the time period in which you are interested.  Are you seeking to understand your Ancient Roots, how and when your Ancestors ventured out of Africa, and the routes they followed 10,000 or 40,000 or 100,000 years ago?  Do you want to know more about your Ethnicity -- where your ancestors lived 300, 500, or 1,000 years ago?  Are you seeking to discover or verify specific individuals in your recent ancestry, within the immediate past 50 to 200 years?  Are you seeking living or recently deceased relatives -- close family such as parents, siblings, or cousins?

ANCIENT ORIGINS

Y-DNA and MtDNA Tests yield Haplogroup designations.  A haplogroup is a genetic population of people who share a common ancestor on the patriline (father's Y-DNA) or the matriline (mother's MtDNA). Haplogroups are assigned letters of the alphabet, and refinements consist of additional number and letter combinations. Haplogroups are defined by specific sets of shared genetic variation. Paternal haplogroups are families of Y chromosomes defined by a specific set of shared genetic variants.  Maternal haplogroups are  families of mitochondrial DNA (mtDNA) that trace back to a single common ancestor.  You have probably heard of "Mitochondrial Eve" or "Y-DNA Adam." These expressions recognize that our Y-DNA and Mitochondrial DNA contain information tracing back to the first man and the first woman.  

Over time, mutations (naturally occurring variations) in either Y-DNA or MtDNA accumulate in systematic patterns denoting branches from common male or female ancestors.  The accumulation of specific variations identify the Haplogroups and their claves and sub-claves.  Anthropologists are mapping and remapping the travels of ancient peoples based on DNA analyses of living humans in specific geographical areas and on the DNA derived from ancient human remains.  Because this work is still "in progress" you can expect changes in the names (designations) given to different Haplogroups, and expansion and revision of information relating to the geographical locations and movements of specific groups.  

Mitochondrial DNA changes more slowly than Y-DNA.  Therefore MtDNA may not be helpful in differentiating between recent female ancestors.  Your MtDNA may, or may not, have accumulated identifying variations in the last 200 years.  Y-DNA changes more frequently than MtDNA, but it too may, or may not differentiate between male relatives (fathers, uncles, brothers, grandfathers) who lived within the last century (3 to 5 generations). For example, a Y-DNA test can tell you which of multiple "JACKSON" Families you are descended from, but may not be able to tell you which of several brothers is your direct ancestor (this is exactly the results we had from our first attempt at Y-DNA testing).   More advanced and more extensive tests are being developed to refine the information, and make both Y-DNA and MtDNA more specific.

The rapid changes in the Haplogroup designations and advancements in geomapping create many problems in understanding your results.  An example of difficulties in understanding Haplogroup results was found when David Adams did a Y-DNA test to track our Adams linage.  He was categorized as Haplogroup H, (specifically H2P96, in the new classification system), and everything we could find placed this Haplogroup in India.  Finally, after much searching we discovered new research placing H2P96 in Europe for about 40,000 years.  The complete story is told in an earlier Blog on Adams Y-DNA. 

 Similarly, we have had difficulties understanding the Y-DNA Haplogroup findings for my Uncle Lindsey Heard.  I am still seeking to understand the findings that place him in the E Haplogroup.  The following photos of famous people currently included in the E Haplogroup will easily help you to understand that some refinements or explanations are needed for this categorization.

As I piece together the travels of the ancient male ancestor of the E Haplogroup, he apparently moved out of Africa, and settled in the fertile crescent, where his descendants were among the first to master agriculture.  From there, some of E's descendants moved north into Europe or east into Asia, while others returned to Africa (and of course some stayed in the Middle East).  Those who moved into Europe prospered, but there were other men who knew agriculture and could compete with them.  Those who returned to Africa had little competition from others who practiced agriculture, so they prospered dramatically, multiplying wherever they moved and leaving millions of descendants.  Today, E one of the more common Haplogroups in Africa.

The most famous historical finding related to Y-DNA is almost certainly the discovery of the Y-DNA of Genghis Khan.  Actually, no one has found and tested the remains of the great Mongol conquer who died on Aug. 14, 1227.  However, in 2004, when it was discovered that one Y-DNA group dominated the male populations of the area that roughly corresponded to the Great Khan's empire, historians, dubbed that Y population as the male descendants of Genghis Khan.  Geneticists have estimated that one out of every 200 men alive today carry this Y-DNA.

The best publicized information on MtDNA is described in the 2001 book, "The Seven Daughters of Eve," by  Oxford Professor Bryan Sykes,  My Haplogroup is T1a, which places me among the daughters of Skyes' protoMother, "Tara".   I am given to understand, by those researching Haplogroup T that I have foremothers among mummies exhumed in Egypt.  T1a is found in higher frequencies in Ireland and Western Britain.  Recent speculation about Health predictions, based on maternal MtDNA, suggest that I am prone to diabetes, but probably resistant to Parkinson's Disease and Alzheimer's, a finding that clearly matches the health history of my Maternal Grandmother, from whom I received my MtDNA.

The driving finding from all of my readings about Haplogroup results (for both Y-DNA and MtDNA) is that we must always be cautious when considering written reports relating to our results.  We should use common sense, and recognize that the knowledge-base on the  DNA of ancient populations is changing so rapidly that the information available in popular writings or on the internet is often outdated. In other words, don't get distraught or disturbed if your first readings of Haplogroup reports place your ancestral line in Timbuktu or Kathmandu.  Keep reading and learning, and you will eventually understand the story of your ancient ancestors.

RECENT PAST -- LESS THAN 2 CENTURIES OR ABOUT 5 GENERATIONS

The recent solutions to two famous historical mysteries illustrate the time-sensitive, selective, and complementary use of the three tests (Y-DNA, MtDNA; aDNA) in identifying genetic relationships between individuals (living and dead).  The last Romanov Tzar, with his wife and children, vanished in 1918 (presumably murdered).  This 101 year-old (3 generation) mystery was eventually solved using all three DNA analyses (Y-DNA, MtDNA, and aDNA).  aDNA was used to define the relationships between the remains, while MtDNA and Y-DNA were used to identify them as the Romanovs. 

The 534 year-old (19 generation) mystery surrounding the burial place and remains of  King Richard III of England (Shakespeare's favorite villain) was recently solved using MtDNA from living maternal relatives. Two female 17th cousins, both descendants of Richard's Mother donated MtDNA that was found to perfectly match the MtDNA of the remains believed to be Richard III. Interestingly, Y-DNA from "presumed" living paternal relatives, did not match Richard's remains.  Investigators concluded that a "non-paternal" event had occurred, in which a "presumed father" was not the biological father.  Both scientific and popular reports (including videos) documenting these mysteries are available by internet search.  Some links are to these stories are:

Before delving more deeply into Autosomal DNA testing, we need to take a moment to consider both genealogical and genetic mathematics.

aDNA AND SOME GENEALOGICAL  MATHEMATICS

In discussing Autosomal DNA (aDNA) tests, you need to appreciate the math of our ancestry.  Since many of my kin have brains tuned to math, they may want to pursue more advanced explanations, but I'll keep it simple for the "rest of us."  Every one of us has two parents; 4 grandparents; 8 great grandparents 16 great, great grandparents (etc.) as illustrated below:

 After 7 generations (approximately 230 years), you have 128 ancestors, and after 12 generations (approximately 400 years) you have 4,096 ancestors.  This brings us to a paradox.  By the time we go back a couple of thousand years (say to the time of Jesus), you would have millions of ancestors.  The problem is that we eventually reach a point in time where you have more ancestors than there were people on earth.

The answer to the paradox is described by genealogists as "Pedigree Collapse."  Essentially, when cousins marry cousins (or other kin marry), the expansion of the pedigree and the multiplication of ancestors is checked.  All of us are the result of intermarriages of kin.  My favorite discussion of this paradox and its explanation is from the philosopher, humorist, and blogger Tim Urban.  I hope you take the time to read his explanations and enjoy his drawings.  Tim Urban on Ancestors and Descendants

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At the personal level pedigree collapse is illustrated below.  In this chart,  Martha Park and Martha Parke are first cousins, granddaughters of Robert Parke and Martha Chaplin.  Therefore, Col. John Williams has 14 great, great grandparents instead of 16.

In recent times, especially in developed countries, intermarriages between relatives have been viewed with suspicion, and are illegal in some jurisdictions.  However, this was not true in the past, and is not true in many countries today.  According to Rutgers anthropology professor Robin Fox, 80% of all marriages in history have been between second cousins or closer.  Consider that statement carefully.  The reason is largely geographical.  Over the history of the world, most marriages have taken place between individuals who live no more than 5 miles apart.  I only have to go back two generations in my family, or  two in my husband's family to find 2nd cousin marriages.  Indeed, I have found that Charles (my husband) and I share one set of ancestors (from the early 1700's); and that my parents, share two sets of ancestors (from the late 1600's).  Such overlap further collapses the pedigrees of our children and grandchildren.

 Calculating cousin relationships is essential to understanding aDNA.  The following is a guide to understanding how two people are related in a family tree.  It illustrates degree of relationship (first, second, third cousins) and the removals (1 times removed, 2 times removed, 3 times removed) as determined by generations.  I also wrote an earlier blog defining cousinships.

SOME GENETIC MATHEMATICS

Each of us receives 50% of our Autosomal DNA from each parent.  All things being equal (and they aren't, so these percentages are always approximate) we would have 25% of our aDNA from each of our 4 grandparents; 12.5% from each of our eight great grandparents, etc., as illustrated in the table to the right.  Beyond our  great, great, great grandparents (line 5, -- 3.12%, on the table) all of our grandparents may not represented in our aDNA.  Some "drop-out" while others remain, with slightly higher percentages of DNA.  The ranges on the graphs below, also demonstrate the "drop-out" phenomena when the range reads 0-XX.

The chart below expands on this concept, illustrating the % of aDNA shared according to the degrees of biological relationship.  In the chart, cM stands for centimorgan.    In genetics, a centimorgan (abbreviated cM) or map unit (m.u.) is a unit for measuring genetic linkage.  Genetic linkage is the tendency of  sequences that are close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction.  Essentially, the more shared centimorgans (cM) the closer the genetic relationship.

The results of aDNA tests are typically reported as shared centimorgans, although some report only in percentages.  If two individuals share significant centimorgans (cM), their genealogical relationship can be predicted, based on the expectations illustrated on the following chart.

The next illustration is an expansion of the same concept, and another way of looking at the same information:

DNA MATCHES and TRIANGULATION

Y-DNA, MtDNA, and aDNA all report results in terms of "Matches."  Regardless of the test, a match indicates that two individuals share DNA, with varying degrees of biological/genetic relationship. This is a relatively simple concept.  However, many people want to know how it is possible to use matches to other living people to infer a relationship to someone (an ancestor) who is long dead?  The answer is "triangulation." 

When two living individuals have a DNA match, they share an ancestor (or ancestors) .  The process of identifying the mutual ancestor(s) is called "triangulation." In the triangle analogy, the two matched individuals are the two connected vertices that form the base of a triangle, and their common ancestor is viewed as the apex of that triangle.  When any two people have matched genetic DNA, genealogical research is used to identify the common ancestor.  Conversely, when genealogical research identifies an ancestor, genetic matches between descendants of that ancestor gives evidentiary support to the validity of the genealogy.  Multiple matches between descendants of a common ancestor provide even stronger support.  In this way, traditional genealogy and genetic genealogy are complimentary.   The chart below illustrates a 10 generation triangulation.  Frances and S.K. have matching aDNA. They share their 7 Great Grandparents (William Lee and Rebecca Burchet).  The graphic from Ancestry DNA lists the generations that separate the 7th cousins, Frances and S.K.

ETHNICITY ESTIMATES

Advertisements for DNA testing frequently focus on "Ethnicity Estimates."  Evidently, discovering or verifying "ethnic roots" is a strong motivating force for many individuals choosing to have DNA testing.  DNA ethnicity estimates use aDNA testing, and "match" the subject's aDNA findings to data bases of individuals from a particular ethnic or geographic group.  The validity of ethnicity estimates is directly related to the size and accurate identification of the population used to define a given ethnicity.  The size and accuracy of data bases used for different ethnic groups varies.  For example, within parts the British Isles, some data bases are so extensive and specific that it is possible to connect an individual to a shire or village.  In other parts of the world, the data bases consist of far fewer, and possibly less representative groups.  Native Americans represent a population that many feel has been poorly sampled and consequently false negatives are common.  One indication that "ethnicity estimation" is still an evolving is the variation between testing companies.

It is clear that at this time, "ethnicity estimation" suffers from limited reliability, which raises questions regarding its validity.  However, as more individuals are tested and data bases are expanded and refined, both reliability and validity should improve.

GENETIC GENEALOGY TESTING COMPANIES 

Family Tree DNA (Now with subsidiaries in other countries, owned by Gene by Gene LTM)    

Ancestry DNA

23 And Me

Oxford Ancestors (closed in 2018)

My Heritage

Living Dander

Dante Labs (European Market)

DNA Ancestry and Family Origin (Middle East)

Vitagene

Helix

Orig3n

GPS Origins

Home DNA

DNA Consultants

DNA Worldwide

GENO 20 (National Geographic)

African Ancestry

Gencove

CRI Genetics

WeGene (Chinese)

23MoFang (Chinese)

24 Genetics (Spainish)

Health Genetics

Nutrisystem

Futura Genetics

Nimble Diagnostics

https://isogg.org/joinform.html

https://www.usatoday.com/story/news/2018/12/02/genealogical-dna-testing-companies-ancestry-23-andme/2141344002/
https://geneticsdigest.com/best_ancestry_genealogy_dna_test/index.html?gclid=Cj0KCQjwtMvlBRDmARIsAEoQ8zQuBR5reIoV0ZzppVSJFso09FHaSYVACuMLzQ75KuKMN16zjFtBTswaAucTEALw_wcB

https://www.consumersadvocate.org/dna-testing/a/best-dna-testing?pd=true&keyword=dna%20test&gca_campaignid=1571295800&gca_adgroupid=62020584680&gca_matchtype=p&gca_network=g&gca_device=c&gca_adposition=1t2&gca_loc_interest_ms=&gca_loc_physical_ms=9026838&&pd=true&keyword=dna%20test&gca_campaignid=1571295800&gca_adgroupid=62020584680&gca_matchtype=p&gca_network=g&gca_device=c&gca_adposition=1t2&gca_loc_interest_ms=&gca_loc_physical_ms=9026838&gclid=Cj0KCQjwtMvlBRDmARIsAEoQ8zT5T-nK740JAhtbYbZpSXP0m-fYT5ddDvc1ZYl94crZ3TwQW7v8UCIaAiEKEALw_wcB

Romanov --https://pdfs.semanticscholar.org/c07a/ec7df130b8261c126493117b4f2e5276e8c2.pdf
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652717/
https://www.pinterest.com/pin/332210909999828055/

Richard III--
https://www.history.com/news/new-richard-iii-mystery-comes-to-lighthttps://www.youtube.com/watch?v=mfi6gOX0Nf4