The Y-DNA Mutation Rate Project

[Link for the survey is here:]

I’ve tested myself out to 67 Y-DNA markers (67-111 are pending!), and I’ve compared that to two 5th cousins. We have some genetic differences, as expected, and I’m always interested in learning more about my Y-DNA. One thing I’d like to do, for example, is compare my results to closer relatives (father and/or son) to look for mutations in father/son pairs.

What is the likelihood of a mutation arising between a father/son pair? What mutations are most likely to arise? Can we use this information to improve estimates to the MRCA?

There are existing studies that examine Y-STR mutation rates (see a great list on the ISOGG wiki: Mutation Rates). Most have dealt with SNP-derived haplogroup ages rather than close relatives, although some have indeed utilized father/son pairs. I’m always on the lookout for more data, however, and as scientists we want this information to be repeated with different father/son pairs. Once we have this data, we can incorporate it into haplogroup age estimates and many other areas of research, hopefully improving the outcomes.

Contribute data before July 1, 2017, and you’ll be entered into a drawing for a free atDNA test kit!

The project is currently for the following relationships ONLY:

  1. Father/Son
  2. Paternal Grandfather/Grandson
  3. Brothers
  4. Paternal First Cousins
  5. Uncle/Nephew
  6. Second Cousins (as long as no closer relationship is submitted for the same common ancestor)

If you have another relationship, like 1C1R (first cousin once removed), just select “Paternal First Cousins” and enter 1C1R in the notes field. But please, no relationships more distant than 2C.

I am especially interested in Y-DNA from non-European haplogroups, since these haplogroups are seriously underrepresented in all research. Also, please don’t think you need to have mutations to contribute; that’s actually bad for the project as it will skew the results toward a higher mutation rate. So feel free to contribute even if you don’t have any mutations!

9 Responses

  1. Phill 6 May 2017 / 8:00 am

    You have hinted at the problem of skewing the mutation rate. I believe a better protocol would be to ask for data such as in the larger studies in which one includes data such as where we know that there were no snp mutations for x generations, just one for y generations etc. I have extensive information on those type of cases as I am sure other people with large surname projects have. If interested contact me.

  2. Dave Dowell 6 May 2017 / 8:42 am

    Within a subset of the Dowell surname project a total of 111 markers were passed down through 41 intergenerational transfers from fathers to sons. By triangulating the results of three independent lines of descent from the founder, his 111 marker yDNA signature was recreated. Of the 4,551 separate data transfers a total of 10 copying variations occurred. This was an error rate of 0.002197 or about two tenths of one percent. In this very small sample the mutation rate is similar to what has been found in much larger studies. These copying errors among the descendants of the founder, who died in 1733, were not randomly distributed In this sample six of the ten errors occurred on the line of one descendant and took place within only 7 generations downstream from the founder. One individual had 2 errors in 9 generations. One had 1 error over 9 generations. One had 1 error over 8 generations. And one had no variation from the founder over 8 generations on any of the 111 markers.

    More details of this study can be found on pages 33-36 of my NextGen Genealogy: The DNA Connection.

  3. NancyT 6 May 2017 / 11:59 am

    I don’t see a link at which to submit information…

  4. Harold Locke 6 May 2017 / 12:47 pm

    My Brother and I are in the Fathers, Sons and Brothers Project at FTDNA, is this what you are referring to joining

    We are tested to Y-111, I have Big Y’ed and interpreted at FGC and Y-Full. My brother is waiting for his Y-Elite from FGC to finish processing and will go to Y-Full right away when completed.

    Would be happy to share the total of our results with you.

    Don’t know if you recognize the name SANDIEGOLOCKE my mother and I match a kit you administer at Ancestry.

    Take care


  5. Chuck Haine 7 May 2017 / 9:49 am

    My son (Y-111) and I (Y-111) are the only known males descendants of my GGG-Grandfather besides a 3C1R (3 mutations). Our haplogroup is G-Z39088 and therefore relatively rare because of the savage R group. There are no mutations between my son and me.

  6. Jane Millar 8 May 2017 / 11:50 am

    Does anyone know whether mutations on the y-chromosome (or any chromosome) are random or whether they may be influenced by factors such as environmental ones (such as diseases of mother or father) or close relationship or parents or grandparents? For example, two of my great-grandparents were first cousins. Were mutations more likely for their children than for parents less closely related? This couple lived into their 80s and outlived 8 of their 10 children. I’m also guessing that certain diseases a parent had, especially during or prior to conception may have resulted in damage to genetic material in the egg or sperm.

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