L0 Interpretation

[MDV]

Hi - I'm a newbie here. I waited MONTHS for my genographic results and finally emailed an administrator who informed me that my haplogroup was not yet available on the website. I was told that I am an L0 and I can't seem to find any information on it. I found some information that indicated L0 is extinct! Why would there be no information available? Is it a rare haplogroup? I am American, a Creole woman of color, and I'd like to know where my ancestors came from and how they eventually got to the US. (I can only trace my geneology back ~200 years.)

Any help would be appreciated ... any other L0's out there?

[lgmayka]

It is amazing how researchers are so quick to jump to conclusions:

http://en.wikipedia.org/wiki/Haplogroup_L1_(mtDNA)
---
The earliest mitochondrial lineage was haplogroup L0, which arose with Mitochondrial Eve. However, the L0 lineage is extinct, and all existing human haplogroups are descended from haplogroup L1.
---


But seriously, I think this is a list of full mtDNA sequences that are classified as L0:

http://www.ilbg18230.pwp.blueyonder.co.uk/discussion/hap_L0.htm

As you can see, the ethnic groups are listed as Ugandan, South African, Khwe, Moroccan, San, Mbuti, and Hausa.

[vineviz]

It is a little dense, but this academic paper is available online in full-text and PDF form:

http://www.pubmedcentral.gov/articlerender.fcgi?tool=pubmed&pubmedid=15457403

Haplogroup L0 is the earliest offshoot of the mtDNA tree in Africa that appears as a sister group to the branch that holds all other haplogroups found in extant humans (fig. 2A). It includes four subclades (L0a, L0d, L0f, and L0k) that were previously classified as subclades of the paraclade L1 (Watson et al. 1997; Salas et al. 2002). L0 is represented in the Ethiopian sample primarily by its daughter clade L0a and a single mtDNA genome from haplogroup L0f. L0a1 accounts for the majority of L0 lineages in Ethiopians, whereas L0a2, widespread in Africa (Salas et al. 2002), is associated with the 9-bp deletion in the COII/tRNALys intergenic region and appeared to be the predominant L0a subclade in the Yemenis. The four L0a2 HVS-I sequences in Ethiopians differed by four substitutions from the frequent modal haplotype of the Bantu speakers (Soodyall et al. 1996; Salas et al. 2002). This haplotype is also present in our Yemeni sample. It is notable that the 9-bp deletion was observed, in parallel, against three other phylogenetic backgrounds of Ethiopian mtDNA sequences in haplogroups M1, L2a1, and L3x.

Three Ethiopian samples showed neither L0a1- nor L0a2-defining mutations and thus remain unclassified at the L0a level. One of them even lacked the 16188 transversion characteristic of L0a but shared both its defining coding-region mutation at np 12720 and the 16148 mutation in HVS-I. Control-region sequences of the L0f type have been found so far at marginal frequencies only in East Africa, with the highest incidence (3/12) among the Iraqw population of Tanzania (Watson et al. 1997; Knight et al. 2003). The phylogeny of the L0 clade in Ethiopians lends further credence to the idea that East Africa is the most likely source of haplogroup L0a variation (Salas et al. 2002). Besides L0a and L0f, this most ancient trunk of the human mtDNA tree includes two subclades—L0d and L0k—that are specific to Khoisan-speaking populations in South Africa (Chen et al. 2000). It is interesting that two L0k sequences were recovered from the Yemeni sample, which indicates gene flow from southeastern Africa.

If you are really into it, an upgrade of your mtDNA test to include HVR2 (or more) you might fit yourself into a small subclade associated with a specific population.

Keep digging, and you'll eventually learn more than you ever wanted to.

[cacio]

MDV:

As the previous posts have made clear, the confusion may arise from the fact that in the old system, L0 was lumped together with L1. Subsequent studies have shown that instead it represent an older branch of the human tree (the oldest), and so it is now called L0.

If you feel like reading a scientific article, you can check also the following:
Salas et al, The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade

http://www.pubmedcentral.gov/articlerender.fcgi?artid=1182259

The article analyzes the distribution of mtdna haplogroups in African Americans. If you look at figure 1 in the link above, you will see pie charts of the distribution of the haplogroups both in various African regions, and in African-Americans. L0 is rare among African Americans. It is more common in South America than in North America. The reason comes from looking at the African pie charts. L0a is present in South Eastern Africa (Mozambique) and (less) in West Central Africa (Congo, Angola). But most of the African American in the US come from West Africa, where L0a is very tiny. Instead, the Portuguese had Angola and Mozambique, so this explain its larger presence in Brazil. Given this information, I think one possibility is that your ancestor came from West-Central Africa (Angola-Congo), or from Mozambique. I am already eliminating L0d and L0k, which are south African (Khoisan), since apparently this has not been found yet in African Americans. But of course that's something that needs to be checked.

If you post your HVR1 on mitosearch, one may be able to say more, since the paper includes some sequences as well. Below here, I have cut and pasted one sentence from the article, which may be of interest.

cacio

The great majority of haplogroup L0a mtDNAs, concentrated in South America, belong to subclusters L0a1 and L0a2, both of which are typically southeastern African. All American L0a types are shared with individuals from Mozambique, where two are elevated to extremely high frequencies (fig. 3) (Pereira et al. 2001; Salas et al. 2002). Several of the southeastern African L0a founder types and a number of derived types are also found in the Angolan sample, indicating substantial commonality between the more southerly Eastern and Western Bantu-speaking communities and pointing also to a possible west-central African contribution, especially to South America.

[MDV]

It is amazing how researchers are so quick to jump to conclusions:

Isn't it? I was reading that and thinking "EXTINCT?!? What am I, invisible?"

As you can see, the ethnic groups are listed as Ugandan, South African, Khwe, Moroccan, San, Mbuti, and Hausa.

Thank you so much for the info. But since I belong to none of those tribes, where is MY ethnic group? Why doesn't the list include countries or ethnic groups of modern origin? Should I assume that the first American in my lineage came over on a slave ship from one of those countries? If so, I'd love to know how our appearance has changed so dramatically in such a short timespan. If it took thousands of years for these haplogroups to develop, shouldn't I expect tribal/racial similarities in my relatives? We really don't look like anyone else ...

[MDV]

It is a little dense, but this academic paper is available online in full-text and PDF form:

http://www.pubmedcentral.gov/article...medid=15457403

Wow ... this is fascinating! I am still reading but did want to reply and tell you (((thanks))) for the quick response! I have found more information here in the last 24 hours than in several months of googling.

If you are really into it, an upgrade of your mtDNA test to include HVR2 (or more) you might fit yourself into a small subclade associated with a specific population.

I am quite ignorant about this. I wasn't aware that I could upgrade my test. Can you recommend a specific test and point me in the right direction?

Keep digging, and you'll eventually learn more than you ever wanted to.

Thanks - I'm on a mission and will not rest until I know where my people came from on my maternal side. We suspect we have one branch somewhere in France, and the other in an African country, but not sure which one ... might even be Haiti.

[MDV]

L0 questions, part deux!

MDV:

As the previous posts have made clear, the confusion may arise from the fact that in the old system, L0 was lumped together with L1. Subsequent studies have shown that instead it represent an older branch of the human tree (the oldest), and so it is now called L0.

Aha! So it is only recently that they found some differentiation in the tests and determined that L0 is older and still found in various populations? That means that my "branches" are deeply rooted?

If you feel like reading a scientific article, you can check also the following:
Salas et al, The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade
http://www.pubmedcentral.gov/article...?artid=1182259

I am blowing many kisses to you guys! I can't wait until my son goes down for a nap so I can pour through all of this. I only hope it's not too far over my head.

L0 is rare among African Americans. It is more common in South America than in North America.

That's very interesting. There is an old story in our family that one of my mother's great grandfathers (a few greats back) came to America from British Honduras, currently known as Belize. He was apparently a stowaway on a ship and changed his name to William Smith when he arrived. Our ability to trace geneology on that branch stops there because we don't know his birth name. If the story is true, that may explain my coloring. I have an "olive" complexion. I tan deeply, but my tan has a reddish tint. It's a strange shade of brown!

But most of the African American in the US come from West Africa, where L0a is very tiny. Instead, the Portuguese had Angola and Mozambique, so this explain its larger presence in Brazil. Given this information, I think one possibility is that your ancestor came from West-Central Africa (Angola-Congo), or from Mozambique. I am already eliminating L0d and L0k, which are south African (Khoisan), since apparently this has not been found yet in African Americans. But of course that's something that needs to be checked.

I wonder if I could find pictures of these tribes and find any tribal resemblance in features, skin color, height or head shape(?) Interestingly, there are not many in my family who know we are African-American. The larger portion of my extended family are very fair skinned and have passed for White, without even a clue of their ancestral origin. We have many blue and green eyes in the family. If it weren't for the tanning wonders of melanin, they would just blend right in with the Europeans.

If you post your HVR1 on mitosearch, one may be able to say more, since the paper includes some sequences as well. Below here, I have cut and pasted one sentence from the article, which may be of interest.

I am such a newbie ... I don't even understand what HVR1/HVR2 is. I came here straight from the genographic project site, looking for answers. (They *still* haven't posted my results!)

The great majority of haplogroup L0a mtDNAs, concentrated in South America, belong to subclusters L0a1 and L0a2, both of which are typically southeastern African. All American L0a types are shared with individuals from Mozambique, where two are elevated to extremely high frequencies (fig. 3) (Pereira et al. 2001; Salas et al. 2002). Several of the southeastern African L0a founder types and a number of derived types are also found in the Angolan sample, indicating substantial commonality between the more southerly Eastern and Western Bantu-speaking communities and pointing also to a possible west-central African contribution, especially to South America.

They didn't indicate if I had an a1 or a2 in my haplogroup. I was just told I was "L0." If this is a rare haplogroup in America, does that indicate that my people are relatively NEW here? Were we the people who were too lazy to migrate, so we stayed in Africa for a very long time? The more adventurous in our tribe went wandering, found their way to other regions and countries and eventually became the L1, L2, etc.? Am I even close to understanding how that works?

Thank you cacio!

[cacio]

MDV:

The test you've done is only for the female line. The ancestor that this test tells you about is your mother, your mother's mother, your maternal GGmother and so on. Among your grand-parents, it tells you only about your maternal grandmother, and then going backwards only about her mother, her maternal grandmother and so on. So that's just a fraction of all your possible ancestors. Most of your genes will come from other people (ie the father side of your family etc). Note also that for creoles it is more common to have African female lineages than African male ones. Typically it was European males who married African women, not viceversa.

Also, you have tested your mtDNA, which is a (small) part of the dna that, as said, mothers pass on to their kids. Eg, you will pass it to your kids. Your female kids will then pass it on to their kids. your male kids will not pass it on, their own children will take this thing from your daughter in law. Of course, there are many other parts of the DNA you will pass on. But these are not what gets tested here. Anyway, the mtdna has around 16500 letters (A,C,G or T). The Genographic project has tested aound 600 of them (number 16000 to 16500 more or less). This is called HVR1. For additional money, you can then have tested a second chunk, called HVR2 (from 1 to 600, more or less).

Anyway, once you get the results (ie some information about this string of letters) you can then compare your results to available databases (in particular those included in the papers cited above). If you match or ar close to somebody, then that tells you that you belong to the group or the line comes from a similar geographical area. As said, although you have to wait, my guess is that you are L0a. The paper shows no other L0 in the Americas, and the other types of L0 are found in Ethiopia and among the Khoisan in south africa, none of which is believed to have contributed many people to the Americas. You should also be warned that at present the databases are not rich enough in African observations. Literally hundreds of thousands of people of European origin have tested, so matches are common and there is often a lot of information. But very few Africans have, so typically matches are rare. But this is why it is important that more people of African origin test. The more they test, the more will be known.

cacio

[vineviz]

That's very interesting. There is an old story in our family that one of my mother's great grandfathers (a few greats back) came to America from British Honduras, currently known as Belize. He was apparently a stowaway on a ship and changed his name to William Smith when he arrived. Our ability to trace geneology on that branch stops there because we don't know his birth name. If the story is true, that may explain my coloring. I have an "olive" complexion. I tan deeply, but my tan has a reddish tint. It's a strange shade of brown!

As others have pointed out the mtDNA you've tested will only tell you about your mother's mother's mother's mother (etc). Your (presumably) African ancestor might be merely one of your 64 GGGG grandparents (for example). You have none mom's great grandfather's mtDNA, but the L0 could possibly come from the woman he married when he got here.

Your mtDNA is quite immense, and the Genographic only examined part of it (a region called HVR1). There are many other regions that can be examined (HVR2, HVR3, etc) and the more regions you examine the more mutations you will find. Thus, you MIGHT be able to more narrowly predict the specific subclade of L0 you belong to. Be careful though, because different companies might examine different regions and it is possible that NONE of the commercial companies are looking for the right data for separating your L0 from others. You might have to become a mini-expert to sort through it all, but you seem like the kind of person that will enjoy that voyage.

[vineviz]

Also, there are two L0 member in the African DNA Project, and they might be able to help you also.

http://www.familytreedna.com/public/African.DNAProject/index.aspx

Try emailing the administrators.

[josh w.]

MDV, as has been noted Mtdna covers only a small portion of your genetic makeup--less than 1% in fact. In particular the genes influncing physical appearance are located on other chromosomes, the autosomes or non-sexual chromosomes. Thus Mtdna results alone cannot provide any information on physical similarities among family members. Although autosomal tests are available, none directly get at the genetic lines affecting appearance.
Your L0 results do suggest East African origins for one of at least tens of thousands of your genetic lines.. As the other posts have noted, L0 occurs with some frequency in two East African groups, Ethiopians in the north and the Khosian in the south. This is more than a coincidence. Evidence suggests that some Khosian migrated to what is now Ethiopia.

[MDV]

MDV:

As said, although you have to wait, my guess is that you are L0a. The paper shows no other L0 in the Americas, and the other types of L0 are found in Ethiopia and among the Khoisan in south africa, none of which is believed to have contributed many people to the Americas.

You are correct! I loaded my kit number somewhere on the site and found some results that indicated I am L01a.

... this is why it is important that more people of African origin test. The more they test, the more will be known.

I am trying to convince all of my friends, as well as the males in my family, to have testing done. Thank you kindly for all the information. It's so nice to chat with people who know what they are talking about ... it's like a free course in genetics!

[MDV]

Also, there are two L0 member in the African DNA Project, and they might be able to help you also.

http://www.familytreedna.com/public/African.DNAProject/index.aspx

Try emailing the administrators.

vineviz, you are my new best friend! I visited that site and just joined. I'm excited to know that I am not the only living member of the L0 haplogroup.

I read through the papers you guys pointed me to and I must admit that it was more than a bit confusing and left me with even more questions. It also sounds like my haplogroup could change(?) if I took more extensive tests. Is that correct, or am I misinterpreting?

[cacio]

MDV:

no, usually the haplogroup doesn't change if you take more tests. Sometimes, HVR1 does not provide much information, in the sense that a given sequence can happen in more than one haplogroup. So looking at other areas of the mtdna may help distinguish between the possibilities. But I doubt this is your case. Because L0 is the most ancient group, it is very peculiar and quite different from other groups (in fact, I suspect you may have 15 or so differences only in your HVR1!), and it has pretty striking sequences that cannot be mistaken.

Of course, deeper tests can give more information about the subgroup. But as said, in your case your HVR1 alone may be able to give information about further subgroups of L0a.

Incidentally, if you're done digesting the previous articles, and you have finally got your sequence, you can also look at this:

http://www.journals.uchicago.edu/AJHG/journal/issues/v71n5/024272/024272.web.pdf

on the ninth page, there is a table with the some HVR1 sequences L0a (which in the paper are called L1a, in the old notation that has been superseded).
If you match any of them, you can establish if you are L0a1 or L0a2.

cacio

[MDV]

cacio:

I have 13 differences from the CRS, but still can't grasp the significance of that. I don't even understand what the CRS is or how they came up with that particular sequencing. (I think I need a "Genetics for Dummies" course.) The changes all seem to be grouped in the same general area; none before and none after. Is there any significance to that? Does a lack of mutations, or few mutations, mean my people stayed in the same place? They were tribal and bred within their own community? Am I asking really ridiculous questions?

I will move on to the next article - and thank you for the continuing education. I am determined to "get" this ...