This page contains some information about mtdna-haplogroup U1a that I have gathered from various sources.

In the literature, there is relatively little information about mtdna haplogroup U1a. While U is the second most common haplogroup in Europe (especially the subhaplogroup U5), U1a is instead more common in the Middle East. But I have not been able to find any good paper about it. Interestingly, I have found two other people who originate from Northern Tuscany (Garfagnana and Massa) and who are also U1a. Perhaps there is a cluster of U1a's in the region.

Haplogroup U is one of the many offshots of R. According to Achilli, U is estimated to be around 60,000 years old, that is, shortly after humans left Africa. Kiivisild (2006) gives a younger age for U, 45,000 year ago. U1 is a direct offshot of the U haplogroup, so it must have split from the other U subhaplogroups quite early. However, U1 and U1a are characterized by several mutations, which means that the common ancestor to all U1's must have been much later. The other U offshots are U5, U6, and the combined rest of U. U5 seems to have moved into Europe (possibly via Russia?), U6 went to North Africa, while U1 seems to have remained in the Middle East.

The small amount of data available clearly indicates that U1a has its highest frequencies in parts of the middle east. The haplogroup as a whole ranges from India (eg Kerala, Pakistan) to the Mediterranean and to the rest of Europe. It is extremely rare at the northern fringes of Europe (such as the UK of Scandinavia). Its sister clade U1b seems to mirror some of the distribution, though it is usually rarer: it doesn't seem to appear in India, and is clearly less common in the Mediterranean than U1a. However, there seems to be a little more U1b than U1a in certain parts of Eastern Europe.

Interestingly, including myself, lists 3 U1a's from the northernmost part of Tuscany, with similarities in their HVR1. It is not clear how many Northern Tuscans there are on mitosearch, and no study exists on the mtdna of the area of Lucca and Massa (previous studies focused on Southern Tuscany, where the Etruscans lived. No U1a's so far, neither in the modern sample nor in the ancient skeletons studied). Presumably, there must be a larger number of U1a's around there. Also, in Italy, U1a seems to pop up especially in the South (though not only, I've seen people from a northern Alpine valley).

U1a is usually recognizable by the HVR motif (73-263-)285-16189-16249. Note that 16189-16249 are found also in other, totally unrelated, haplogroups (such as M1, F, B, L1, and others), which has occasionally generated incorrect haplogroup assignments when looking at HVR1 only. But as far as I know, 285T should confirm the assignment. (I have seen one possible case of no 285 mutation, whether a testing mistake or a backmutation I don't know.)

As shown by Achilli and Palanichamy (see below), the U1a tree includes:

Using the few fully sequenced U1a's in the literature, Ron Scott has defined two further subgroups of U1a that have more than one sequence: Mine apparently doesn't fall into either subgroup (neither do a couple of other recent Ashkenazi sequences).

Here is a list of references:


My father belongs to mtdna haplogroup K1a* (full sequence). The lineage, as far as I know, is from the Massa area in Tuscany. I have not studied haplogroup K much. Bill Hurst placed the sequence in a group he defines pre-K1a10, based on 195C and the 524 insertions. I am not sure whether there is any additional branching structure in the pre-K1a10 group. (His K1a10 group has 16048, and is especially frequent in Ireland.) As far as I know, relative to the main K1a branch, the sequence shows the following additional coding region mutations: 5460A (this seems to appear independently somewhere else in K), 6182A, 7245G, 9148C, 12235C, 15930A; and the HVR1 mutation 16179T.

I'd like to know more about both haplogroups. Do you belong to haplogroup U1a (or K1a) as well? Do you have any information about it? I'd be happy to share. Send me an email to:

cacio 'at' cagetti . com
(type in the address with the @ in your mail program)

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