Results 1 to 4 of 4

Thread: What does the mutation 4586Y mean? And how can I see if I have it on ftDNA?

  1. #1
    Registered Users
    Posts
    36
    Sex
    Ethnicity
    Ashkenazi Jewish
    Nationality
    Jewish

    Star of David

    What does the mutation 4586Y mean? And how can I see if I have it on ftDNA?

    Was wondering what this mtDNA mutation means. Found it on p11 in this study: https://www.nature.com/articles/s41598-020-78487-9.pdf

  2. #2
    Registered Users
    Posts
    11
    Sex
    Y-DNA (P)
    R-BY38964
    mtDNA (M)
    T2f1a1
    mtDNA (P)
    H17a

    The "Y" indicates a heteroplasmy on SNP 4586.

    At the risk of oversimplifying it: each cell contains many organelle (mitochondria) and when some mitochondria have a mutation and others don't then it's called a heteroplasmy. MTDNA heteroplasmy is the intermediate step between long lasting mtDNA mutations. Each egg cell may have more or less of the mutated mitochondria than its mother. Overtime the mutation will either disappear from the line, either being culled out or the original version will through chance be the only remaining organelle in the egg cell; or by chance the mutated version will be the only remaining version in a new egg. The science isn't final yet but it is thought that herteroplasmies don't last too many generations so anyone that the same haplogroup that shares a heteroplasmy are probably closely related to each other. It may be possible to use paper records to trace the relationship. However this can be difficult with AJ in eastern Europe due to the lack of paper records.

    In this specific case, the "Y" indicates the presence of "C" and "T". The RSRS value for 4586 is "T" but a mutation early in human history now has most humans with a "C" instead. The 4586Y mutation is an example of a start of a back mutation. If that were to happen it would be shown as "4586T!"

    If you did mtFull with FTDNA then to see if you have these mutations: MyDNA -> mtDNA -> Mutations. In the RSRS tab you'll see a box labeled "Extra Mutations". If '4586Y' or '4586T' or '4586T!' is found there then you are maternally closely related to the person referenced in the Nature paper. If you don't see any of those listed there then you are likely not maternally closely related to that person.

  3. The Following 2 Users Say Thank You to RBHeadge For This Useful Post:

     Andour (03-03-2021),  grumpydaddybear (03-03-2021)

  4. #3
    Registered Users
    Posts
    359
    Sex
    Location
    Auvergne, France
    Ethnicity
    "Arvern"
    Nationality
    French
    Y-DNA (P)
    R-L2-DF103/FGC4183
    mtDNA (M)
    H1bm

    European Union France
    Quote Originally Posted by RBHeadge View Post
    The "Y" indicates a heteroplasmy on SNP 4586.

    At the risk of oversimplifying it: each cell contains many organelle (mitochondria) and when some mitochondria have a mutation and others don't then it's called a heteroplasmy. MTDNA heteroplasmy is the intermediate step between long lasting mtDNA mutations. Each egg cell may have more or less of the mutated mitochondria than its mother. Overtime the mutation will either disappear from the line, either being culled out or the original version will through chance be the only remaining organelle in the egg cell; or by chance the mutated version will be the only remaining version in a new egg. The science isn't final yet but it is thought that herteroplasmies don't last too many generations so anyone that the same haplogroup that shares a heteroplasmy are probably closely related to each other. It may be possible to use paper records to trace the relationship. However this can be difficult with AJ in eastern Europe due to the lack of paper records.

    In this specific case, the "Y" indicates the presence of "C" and "T". The RSRS value for 4586 is "T" but a mutation early in human history now has most humans with a "C" instead. The 4586Y mutation is an example of a start of a back mutation. If that were to happen it would be shown as "4586T!"

    If you did mtFull with FTDNA then to see if you have these mutations: MyDNA -> mtDNA -> Mutations. In the RSRS tab you'll see a box labeled "Extra Mutations". If '4586Y' or '4586T' or '4586T!' is found there then you are maternally closely related to the person referenced in the Nature paper. If you don't see any of those listed there then you are likely not maternally closely related to that person.
    Not personally concerned by heteroplasmy, as far as I know. But I'll take a minute to thank you for this remarkably clear, and useful, explanation. Not one word too many, and to the point. Wish we had more of that sort of 'lecture' - ever so enlightening to the (keen but alas, ignorant) amateur.
    Immi uiros rios toutias rias
     
    ___ Paper trail since 1550 : 100% South Auvergne, France ___
    Distance: 1.510% : 50.0 German , 50.0 Spanish Castilla .... Distance: 1.453% : 50.4 Swiss German , 49.6 Spanish Barcelona
    Distance: 1.659% : 50.2 Scottish , 49.8 French Corsica...... Distance: 1.714% : 50.8 Italian Lombardy , 49.2 French Brittany
    Distance: 1.959% : 50.8 Irish , 49.2 Italian Tuscany ......... Distance: 2.189% : 50.8 Dutch , 49.2 Basque French

  5. The Following 2 Users Say Thank You to Andour For This Useful Post:

     grumpydaddybear (03-03-2021),  RBHeadge (03-03-2021)

  6. #4
    Registered Users
    Posts
    36
    Sex
    Ethnicity
    Ashkenazi Jewish
    Nationality
    Jewish

    Star of David
    Quote Originally Posted by RBHeadge View Post
    The "Y" indicates a heteroplasmy on SNP 4586.

    At the risk of oversimplifying it: each cell contains many organelle (mitochondria) and when some mitochondria have a mutation and others don't then it's called a heteroplasmy. MTDNA heteroplasmy is the intermediate step between long lasting mtDNA mutations. Each egg cell may have more or less of the mutated mitochondria than its mother. Overtime the mutation will either disappear from the line, either being culled out or the original version will through chance be the only remaining organelle in the egg cell; or by chance the mutated version will be the only remaining version in a new egg. The science isn't final yet but it is thought that herteroplasmies don't last too many generations so anyone that the same haplogroup that shares a heteroplasmy are probably closely related to each other. It may be possible to use paper records to trace the relationship. However this can be difficult with AJ in eastern Europe due to the lack of paper records.

    In this specific case, the "Y" indicates the presence of "C" and "T". The RSRS value for 4586 is "T" but a mutation early in human history now has most humans with a "C" instead. The 4586Y mutation is an example of a start of a back mutation. If that were to happen it would be shown as "4586T!"

    If you did mtFull with FTDNA then to see if you have these mutations: MyDNA -> mtDNA -> Mutations. In the RSRS tab you'll see a box labeled "Extra Mutations". If '4586Y' or '4586T' or '4586T!' is found there then you are maternally closely related to the person referenced in the Nature paper. If you don't see any of those listed there then you are likely not maternally closely related to that person.
    Thank you.

Similar Threads

  1. Replies: 0
    Last Post: 10-02-2020, 01:01 AM
  2. Replies: 3
    Last Post: 09-22-2020, 08:17 PM
  3. New mutation rate for chickens
    By Jean M in forum Fauna
    Replies: 3
    Last Post: 12-07-2017, 04:07 PM
  4. New mutation rate for chickens
    By Jean M in forum Fauna
    Replies: 0
    Last Post: 10-29-2015, 11:58 AM

Posting Permissions

  • You may not post new threads
  • You may not post replies
  • You may not post attachments
  • You may not edit your posts
  •