X Marks the Spot

When using autosomal DNA, the X chromosome is a powerful tool with special inheritance properties.  Many people think that mitochondrial DNA is the same as the X chromosome.  It’s not.

Mitochondrial DNA is inherited maternally, only.  This means that mothers give their mitochondrial DNA to all of their children, but only the females pass it on.  So tracking mitochondrial DNA back up your tree, it goes to your mother, to her mother, to her mother, until you run out of direct line mothers on that branch.  The mitochondrial DNA is shown by the red shading below.  The Y chromosome is blue.

Mitochondrial DNA is not one of the 23 chromosomes you obtain from both of your parents.

The X chromosome is different.  The X chromosome is one of the 23 pairs of chromosomes.  The 23rd pair is the pair that dictates the gender of the child.  If a child has an X and a Y, it’s a male.  Remember that the father contributes the Y chromosome to male children only.  If the child has two X chromosomes, it’s a female.

The inheritance patterns for the X chromosome for males and females is therefore different.  Men inherit only one X chromosome, from their mother, while women inherit two Xs, one from their mother and one from their father.  In turn, their parents inherited their X in a specific way as well.  All ancestors don’t contribute to the X chromosome.

In my paper published in the Journal of Genetic Genealogy (Vol. 6 #1) in the fall of 2010, in a paper titled Revealing American Indian and Minority Heritage Using Y-line, Mitochondrial, Autosomal and X-Chromosomal Testing Data Combined with Pedigree Analysis, in addition to other types of analysis, I analyzed my X chromosome and what it told me about where some of my Native and African inheritance came from.

At that time, the only company returning ethnicity information about the X chromosome was deCode genetics.  My X chromosome showed that I carried Native American heritage on the X chromosome as well as on some other chromosomes.

I’m going to share the part of this paper involving the X chromosome and how it can be used genealogically and in particular, to identify candidates who could have contributed this Native and African ancestry.

Blaine Bettinger granted me permission to use 2 charts in the paper and again for this blog.  Thanks much, Blaine.  He originally published them on his blog, The Genetic Genealogist, in December 2008 and January 2009 in his blogs about how to use the X chromosome for genealogy.

The first chart shown below is the male’s X chromosome inheritance chart.  You can see that he only obtains his X chromosome from his mother who inherited it from both her mother and father, but only from some of her ancestors on either side.

The next chart is the female’s inheritance chart.  She obtains her X from both of her parents.

Blaine color coded these, pink for females and blue for males, so I was then able to quickly use them to fill in my ancestor’s names.  I know this next chart looks messy, but it’s what I did and I still refer to this regularly.  I don’t’ expect you to READ this, I expect you’ll DO something like this with your own pedigree chart.  So excuse the look into my messy closet:)

I numbered the slots so that I could work with them later.

The results were quite surprising.  The first thing that became immediately evident is that I didn’t have to worry about a few lines.  On the chart below, you can see that my mother’s German lines could be immediately eliminated, because we know they were not the source of the Native American heritage.

This leaves only three individuals on the mother’s side as candidates for Native ancestry.  Those are the numbered slots between the German lines.

The people below correspond to the numbered slots above.  See, I told you that you didn’t need to read the chicken scratch chart.

5 – Naby (probably short for Abigail), last name unknown but may be Curtis, born in Connecticut in about 1793.

7 – Capt. Samuel Mitchell, born probably about 1700, possibly in Kittery, Maine or possibly in Europe, mother unknown.  This line is probably eliminated.

8 – Captain Mitchell’s wife, Elizabeth, last name unknown

Using the pedigree chart, we narrowed the mother’s side from 21 possible slots to 5 with one more probably eliminated.  Of these, mitochondrial DNA sampling of the descendants of the two women whose last name is unknown would produce the answer to the question of maternal Native or African ancestry.

The father’s side is more complex because many of his ancestors immigrated in the colonial era.  Candidates for Native ancestry are as follows:

20 – Mary, wife of John Harrold (Herrald, later Harrell), born about 1750, died in 1826 in Wilkes County, NC.  She was rumored to have been Irish.

21 – Michael McDowell, born 1747 in Bedford Co., Va. – his mother is unknown.  His father was a second generation immigrant who lived in Halifax and Bedford Counties in Virginia.

22 – Isabel, wife of Michael McDowell, probably born about 1750, surname unknown, located in Virginia.

27 – Elizabeth, born about 1765, wife of Andrew McKee of Virginia.

28 – Agnes Craven is the last slot on the chart, but not the last in the line.  Her father was Col. Robert Craven born 1696 in Delaware and was well to do.  His mother is unknown.  Robert’s wife was Mary Harrison, born in Oyster Bay, New York to Isaiah Harrison and Elizabeth Wright.  These lines appear to reach back to Europe but are unconfirmed, probably eliminating these lines.

30 – Phoebe McMahon, wife of Joseph Workman, born 1745 York Co., Pa, daughter of Hugh McMahon, mother unknown.

31 – Gideon Faires’ mother was Deborah, born 1734, possibly in Augusta Co., Va.

32 – Sarah McSpadden’s father was Thomas McSpadden born 1721 in Ireland, eliminating this line.  Sarah’s mother was Dorothy Edmiston whose father was born in Ireland, eliminating that line.  Dorothy’s mother was named Jean and was born in 1696 but nothing further is known.

33 – Martha McCamm, born before 1743, wife of Andrew Mackie of Virginia, parents unknown.

On the father’s side, we began with 13 slots, positively eliminating one and probably eliminating a second, leaving 11.  Of these, 7 could be resolved on the maternal line by mitochondrial DNA testing.  Taken together, this side of the pedigree chart is a much better candidate for both Native and African DNA sources.  Notice all of the females who have no surnames.  These are excellent places to look for Native ancestry.  On my chicken scratch version, these are highlighted in yellow.

While the X chromosomal pedigree chart analysis is not the perfect scenario, the pedigree chart has 128 slots.  Using the X chromosome narrows the candidates to 34 slots.  Genealogy narrowed the slots to 15 and focused mitochondrial DNA testing could narrow them to 6.  Further genealogy research on those ancestors could potentially eliminate them by placing them “over the pond” or by discoveries which would facilitate DNA testing.

Marja and Me

You might recall that Marja and I are also related on our X chromosome.  In this case, since she is from Finland, the probabilities are exactly the opposite.  It’s much less likely that our connection is on my father’s or mother’s British Isles lines, and much more probable that it’s through my mother’s German lines. The early colonial settlers tended to be from the British Isles and certainly the people filling the X chromosome slots from my father’s side appear to be, with names like McDowell, McSpadden, etc.

Mother’s Anabaptist line (Brethren) is the German grouping through my mother’s father and descends from France and Switzerland,although these particiular lines don’t appear to have become Brethren until after immigrating to America.  Marja also has other matches with people from the Anabaptist project.

Those end-of-line people are:

  • Barbara Kobel – born 1713 probably Scholarie Co., NY
  • Anna Maria Deharcourt – born 1687 Muhlhofan, France, died Oley Valley, Berks Co., Pa., probable parents Jean Harcourt and wife, Susanna
  • Veronica – wife of Rudolph Hoch, born 1683 Basel, Switzerland, died 1728 Oley Valley, Berks Co., Pa.
  • Susanna Herbein – born 1698, Switzerland, father Jacob, died 1763 Oley Valley, Berks Co., Pa.
  • Jacob Lentz – born 1783 Wurttemburg, Germany, died 1870, Montgomery Co., Ohio
  • Fredericka Moselman – born 1788 Wurttemburg, Germany, died 1863 Montgomery Co., Ohio

Mother’s Dutch line is eliminated, because it’s through her father’s father.  Marja and I thought that might be a possibility, but we can see from this chart that it is not.  My father also has a Dutch line that was eliminated because it came from his paternal line.

Mother’s Lutheran Palatinate line, end-of-line ancestors show below, is though Mother’s maternal line.

  • Johann Jacob Borstler – born about 1659 Beindersheim, Bayern, Germany
  • Anna Stauber – born 1659, Schaeurnheim, Germany, father Johannes Stauber
  • Johann Peter Renner – born 1679, Mutterstadt, Bayern, Germany
  • Anna Catherina Schuster – born about 1679 probably in Mutterstadt, Germany
  • Maria Magdalena Schunck – born 1688 probably Mutterstadt, Germany, father Johann George Schunck
  • Johann Martin Weber – born about 1700 Mutterstadt, Germany
  • Rudolph Sager and wife Elizabetha – born about 1669 Ruchheim, Bayern, Germany
  • Rosina Barbara Lemmert – born 1669 Mutterstadt, Bayern, Germany
  • Anna Blancart – born 1642 Mutterstadt, possibly French
  • Johann George Hoertel and wife, Anna Catharina – born about 1642, Mutterstadt, Bayern, Germany
  • Matthaus Matthess – born 1695/1715 Rottenback, Bayern, Germany, wife unknown
  • Anna Gerlin – born 1697, Windischerlaibac, Bayern, Germany
  • Johannes Buntzman – born 1695/1720 Fulgendorf, Bayern, Germany
  • Barbara Mehlheimer – mitochondrial line J1c2 – born 1823 Goppsmannbuhl, Bayern, Germany, mother Elizabetha, unmarried

Note that the mitochondrial line is indeed one of the lines that contributes to the X chromsome inheritance path, but only one of many.

So Marja, it looks like we have to be related through one of my British Isles ancestors, listed in the first part of this article, or from one of Mother’s two German groups.  Personally, I’m betting on the German groups, but you never know.  DNA is full of surprises.

The good news is that my mother’s information is also at GedMatch, along with mine and Marja’s, so by process of elimination, we can at least figure out whether to focus on the pink or the blue side of my chart.

Today, downloading your raw results to GedMatch, combined with Blaine’s X charts above, is really the only good way of working with X chromosome matches.

I’m planning to package this article as a pdf file and send it to my X chromosome matches.  You can substitute your information for mine and do the same thing.  Hopefully, your matches will then understand the X chromsome, its unique inheritance properties, and will provide their X end-of-line ancestors for you as well.

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291 thoughts on “X Marks the Spot

  1. I am female and don’t know my father’s ancestry. He was adopted. And I want to know more about where he came from. Do I have to get my brother to test as well to get a better idea of where my father came from?

  2. Roberta:

    I have a situation where I believe that a woman we’ve identified is the Daughter of a long lost Aunt. I spoke with another cousin and said that I thought the best way to determine this was through mitochondrial DNA testing. I also said that all 3 of us needed to do it since we would all be from different sisters of the 3. They were separated at a very early age and had little or no contact later in life. I figured the “triangulation of the DNA” (if you will) will prove or disprove the identity of the lady we believe is our cousin. I know…I’m not making sense.

    The other thing we thought was if we could get her to load into GEDCom, maybe the X DNA would be….well, frankly less expensive. But if I’m reading you correctly, it wouldn’t be sufficient as “proof”, right?

    Thanks for your help.

  3. I have just received notice of a 3 or 4th cousin related to me through my x dna ,74 centimorgans –
    19 longest blockhowever she is related to my brother , 111 centimorgans -56 longest block ,but it gives no indication of being on his x dna. Is this person related through our mother’s family or our father’s ? I am so lost here. Thank you.

    • From what you said, we can’t tell. Your brother got his X from your mother only, and you got 1 of your mother’s copies of her X, plus one from your Dad. So we can’t tell. However, see who that person matches in common with you and your brother to see if you can tell by known people in her in common list.

  4. I’m going to go out on a limb and assume it’s a typo for your number 7 Captain Mitchell born 1800. You probably meant 1700 right?

  5. Roberta, thank you for your excellent article explaining the X Chromosome and how we can use it to narrow down where we match with a DNA cousin.

    Sincerely in Christ,

    George Theiss
    USMC Vietnam Veteran

  6. Pingback: X Matching and Mitochondrial DNA is Not the Same Thing | DNAeXplained – Genetic Genealogy

  7. Let me start by saying i am new to this so I may ask a silly question. My father has 2 relatives with x-dna matches on gedmatch. one is : autosomal 24.4 11.7 3.4 X 13.1 13.1
    the other is: 103.4 13.3 3.6 X 18.7 13.4 . from my limited understanding both of these connections would be connected through my father’s mother. Can you confirm that his is the case?

    thanks in advance.
    Susan

  8. On gedmatch I have a lady that is a known match through my dads paternal line. However, I also show a 5.5 cm’s x with her. Does this mean she is related to me through my dads maternal side as well? They lived in the same area, so it is likely. She is not related on my maternal line at all. Thank you.

  9. Thanks for the information, but as this area is new to me, can I ask a question? I administer a kit for my sister on gedmatch. She has a 1 segment match on x chromosome of 103 cm with a kit from a gentleman. They do not share any other autosomal DNA of significance. Based on what I’m reading, it looks like this is a 3-4 cousin perhaps removed. Am I on the right track?

    • 103 cM is certainly substantial. Divide that in half and look at the reference charts for the other autosomes. I’m not where I can check right now. It could be further back in time but is worth pursuing.

  10. Question – I recently found out that my father is 6% native american. I believe this is from his mother’s side. 1 DNA test showed this as 6% and ancestry.com test showed no native american with my father. Two questions – why would it appear on one test but not the other, and if in fact it came from his mother’s side, and I’m his son, will I ever see native american in my genetic make-up. If not, does this simply mean it’s there but not showing up, or does it mean this part of my heritage ended with my father and I received none? Any insight would be great!

  11. Pingback: Glossary – DNA – Deoxyribonucleic Acid | DNAeXplained – Genetic Genealogy

  12. How does one find a researcher to help with their DNA questions and solutions? is is possible to hire someone or is there a primer on where and how to begin, it all seems so overwhelming!
    Jan Mendoflower@juno.com. I am looking for family related to my mother’s mother who was adopted in San Francisco in b. 1 Oct 1906 through Native Daughter’s Gilden West. I have my line on gedmatch and ftdna, my daughter’s on ancestry..

  13. Greetings! I am currently endeavored to link two female sisters to a now deceased father long buried (80 years) on a remote Pacific island. We hope to find his remains this year but in the mean time, is there a DNA test you would recommend we use to match their DNA to a father that we may only have teeth to compare?

  14. My mother is the daughter of one of two brothers. I have tested a daughter of a daughter from each brother. One would be my mother’s first cousin 1x. The other would be her half niece. Each has shared cM values with my mother that would put them in either category. I have also tested three of my mother’s daughters, one of her granddaughters, four of her grandsons and a great granddaughter.
    One of the brother’s granddaughters has no shared x dna with my mother or any of her tested descendants. The other granddaughter shows 100 cM x dna with my mother, and shared x dna ranging from 40 to 60 cM with the three daughters, as well as lesser amounts with the granddaughter, great granddaughter and one of the grandsons. Might this be an indication of which brother is the father?

  15. Roberta, Mom passed away in April this year. She had told me that she would do a DNA test after I got my results back. She passed away a couple weeks before my results came back. I see on a comment above suggesting perhaps FTDNA could help the person with DNA results from teeth. I had read somewhere that you could also get DNA from dentures? Really? I have mom’s denture (the hospital gave it to me in a plastic container). Is it worth attempting to have DNA testing done on the denture? – THanks Paula.

      • Thanks for getting back to me. WOW, I really don’t know if they were cleaned. I’m thinking not given the time of day she had the stroke. I’ll just keep them and hope that a time will come that they can do that type of test.

          • Roberta, Mom put her’s in a container of cleaner in the bathroom at night but she had a habit of putting a “spare” upper in her mouth before going to bed. She had her stroke during the night, so I’m pretty sure she was not able to put her “clean” teeth in that morning when she woke. I’ll double check with my brother and sister-in-law. They had just moved in with her a few months earlier. Thanks again. Paula

  16. Hi Reberta
    I am thinking of getting my dna tested. I have been doing my family tree for many years and I know from that and from family traditions that I have a Roma / gypsy link on one branch. I am trying to find out which dna test would be the best to show these origins. The person with the strongest gypsy blood in my tree is my great great great grandfather. However this line is my fathers mothers mothers mothers father. I do not have anyone other than my father or myself to take the test. Which type of test would you suggest we use and which one of us do you think we should test? Me or my father? Thank you

    • In general, always test the older generation. Your father can test his autosomal, his Y DNA and his mitochondrial. He gets his Y from his direct paternal (surname) line and his mtDNA from his mother’s direct matrilineal line. You should probably test too because you will show your mother’s line in addition to your fathers. But because your father has tested, it will make identifying the autosomal matches from his side easy for you. Additionally, you can test your mtDNA for your mother’s direct matrilineal line. Here’s the link to Family Tree DNA where you can purchase these tests. The autosomal is called Family Finder. https://affiliate.familytreedna.com/idevaffiliate.php?id=336

  17. If an adopted male is a strong atDNA match to three first cousins (we have determined him to be 1C1R or possibly a half-first cousin, based on shared cMs), but shows no match on the 23rd chromosome – can it be safely said that he is related to the three cousins through his paternal line?

  18. My step father and my husband show as related on GedMatch’s one to one comparison, back 4.5 generations. However, they do not match on the X DNA comparison.
    Does that mean they aren’t related through their maternal lines?

  19. Thank you so much for this ! I am trying my hardest to trace family connections, I am maternal H1c and my fathers y line is R M222. Can I just say how much I love your work.

  20. My half sister and I have the same father, different mothers.
    Her grandson and I show shared DNA on the X chromosome on 23andMe.
    Is this our father’s DNA that was passed down through my half sister to her daughter and then to her daughter’s son?

    The more I read, the more confused I get.

    Sincerely,

  21. Hi Roberta
    This is Hubert. I am trying to find out what DNA test to do, to find out the ancestors of my great grandfather on my father’s, mother’s father side of my family My father,his mother, and and his grandfather has already passed away. Please help me. Thanks very much.

    Hubert.

  22. Roberta, I am adopted and I have a match on GED and we match at 554.4 cM autosomal and then we match at 67.90 X-dna. does this mean that we are related on my mother’s side of the family? The next closest match is 38.7 X- dna with 0 autosomal.

  23. Hi Roberta,
    I am researching my mothers side. 1. It has been rumored in my family for years that her real father was an American serviceman, name unknown. 2. I also have doubts as to my grandmothers true birth surname. I have done a Autosomal DNA test but reading some of the previous comments I get the impression that a mitochondrial test would be of more help with determining my grandmothers true surname. Am I correct and would this mean taking a new and separate mitochondrial test? As far as the Autosomal test, will that be enough over time to help find my true grandfather given that hopefully one day someone in his family will do the same test? Could you also help me understand why out of hundreds of matches on Gedmatch, only two have X-DNA. I have a Male with Autosomal-Total cM 186, Largest cM 39. X-DNA-8.4 and a Female with Autosomal-Total cM 33, Largest cM 16. X-DNA-8.6. Appreciate your time.

  24. Hi Roberta, I’ve been totally surprised by my DNA results. I started with Ancestry, uploaded my data to MyHeritage and Familytree. I’ve retaken DNA with 23andme and now I’m waiting for mtDNA results from Familytree. Basically, I’m a 67 yr. old female, my parents immigrated from Ukraine and I have birth certificates for both, from the same little town, also named are their parents and grandparents all Ukrainian. My haplogroup according to 23andme is C4b, Northeastern Siberia and Asia which is what I expected. The surprise is that my DNA reveals I’m at least half Italian, 23andme says within the last 100 yrs. and it could’ve been a parent or grandparent. My problem is that my parents are both deceased, I have no siblings and only a few female first cousins from my maternal line. Can it be inferred, from my mtDNA, that my father is different than assumed and in fact Italian. In my mind a strong mtDNA location in the far East would make it a fair assumption that its the paternal side which is Italian. I understand that definitions of ethnicities are difficult given human migrations and geo-political changes. There are no family stories only one little hint, once.

  25. Hi Roberta!
    First of all – many thanks for the article, I’m much wiser now:). One question I have – you’ve mentioned that X is inherited from both parents,in case of a female. What is the logic behind the “mix” of both X-s?Is it some random 50% of mothers and 50% of fathers? I’m asking since I have a confirmed relative on my mother side, with which I should have sharing some X parts(according to the Pedigree chart above), but I apparently I don’t.
    Thank you in advance!

  26. Hi Roberta. Love your articles. I am rereading about X chromosome analysis because we have narrowed down my paternal grandmother’s birth family, but need to confirm which line was paternal and which was maternal. I have X DNA results for me, my sister, my grandmother’s daughter and my aunt’s daughter. I also have autosomal DNA results for my two brothers. I see the various charts to use to map out the inheritance path, but wondered who I should put as HOME person – should it be the person whose DNA results we have or the person who is the subject of the inquiry, i.e., my grandmother?

    • There person whose DNA was tested will tell you whose DNA they received. The person whose relatives you are seeking will hopefully be covered by the X of the person who is testing. Otherwise, the X of the person who is testing is irrelevant to the X of the person whose relatives you are seeking.

  27. Hello, first off, thank you for this article because I was one who thought that X-DNA was the same as maternal ancestry. This post clarifies a lot! Question: Is a 105.6 cM X-DNA match relevant enough to research?

  28. I’ve taken the 23andme test with my mom. I am a male and my X chromosome is almost 100% Italian, while one of my mother’s X is Iberian and the other French-German. Whats the explanation for that?

  29. I am trying to find out who my father really was. He has passed and he was given up and he lied about what his biological name was. I believe I have found some of his side of the family but am trying to narrow it down. Since I can’t do the Y test what is the best way to determine between paternal and maternal

  30. Roberta I am with FTDNA and I have a question concerning the X Chromoosome. In looking at the inheretance charts above I would expect my X matches to all be on my Maternal side. My results page shows I have 5717 total atDNA matches with 228 xDNA matches. But only 78 of the 228 xDNA are showing as maternal. Why is that? Thanks in advance for your response. Danny

    • Just because someone is assigned to the paternal side doesn’t mean ALL the DNA comes from that side. The X is included in your matches even if there is a small amount, if you match on another segment too. Ignore X matches below 10-15cM.

  31. Hi Roberta
    Thanks for a great article. I would really appreciate your perspective on my current area of investigation. I am helping two ladies who are clearly connected, but it’s not clear where yet. They are both connected to me also. Lady A was adopted. We have recently identified her mother and now have a detailed maternal tree built for her. Lady A’s father remains unknown but this is probably the line that connects with my tree, a few generations back. She has many DNA matches with a branch of my family. Lady B knows her father and her mother. But her mother does not know who her father was. To complicate things further Lady B also does not know who her paternal great-grandfather was but let’s park that for now. Lady A and Lady B share 557 cM Autosomal DNA. But they also share 105 cM X-DNA which is quite substantial. They share no X-DNA with me, but both share a very small amount of 5 cM with my mother, but not in the same block. I’m regarding that as insignificant. For the present time I’m assuming Lady A and Lady B might be Half-1st cousins and am testing this with various tree possibilities. At the moment it seems to fit. I’ve built the Bettinger X-DNA charts with all known tree info for both Lady A and Lady B and there are no known matches there. My assumption at the moment is the X-DNA must have come from the mystery branch that is most likely connected with mine a few generations back. I wonder what your observations might be about all of that, particularly the large amount of shared X-DNA? Thank you 🙂

  32. Hello. I am trying to identify a woman’s biological father. She has a match with a male – they share 838 cMs across 32 segments (Ancestry DNA) AND share X-DNA of 112 cMs in one unbroken segment (Gedmatch). Questions: 1. Am I correct in assuming they are positively related via the male’s maternal line? 2. How significant is the strength of the X-DNA match? 3. Can you tell from this if the relationship between these 2 individuals is more likely half aunt/half nephew or a cousin?Thanks.

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