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

[genealogist_jewish]

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

[RBHeadge]

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.

[Andour]

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.

[genealogist_jewish]

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.