My 23andMe data revealed a number of potentially worrying results: compared to what I was expecting, I turned out to be a hotbed of mild genetic disease. I visited my GP to discuss the results with him; he spent a short while staring at the reports, and then referred me to a clinical geneticist. I haven’t had the appointment at the time of writing this, so I will give a full report of the experience after I’ve had time to digest it. I’m not going into details about all this now, because I didn’t really want to open this new chapter of the Genomes Unzipped book talking about my potential or actual diseases – so instead, I’m going to talk about something entirely unrelated to disease, and related to my family, and our suspected histories.
I have worked on Y chromosome sequencing pretty extensively in the past, and the first thing I checked when I received my 23andMe data was my Y haplogroup. The Y chromosome is passed down exclusively from father to son, and thus provides information about one “edge” of my family tree (my father, my father’s father, my father’s father’s father, and so on). My haplogroup is N1, which is a predominantly Asian haplogroup, and is very rare in the UK. This isn’t actually a very strange result, though; my father’s father is Latvian, and the N1 haplogroup is not rare in the Baltic regions. In fact, the subgroup, N1c1, is more common in parts of Eastern Europe than it is in Asia.
Initially, this seemed to play nicely into a part of our ancient family history. There is a folk history, relayed to me by my Dad and my uncle Johnny, that Jostins blood may contain traces of Mongolian. The justification for this is that in around 1260, just before the civil war caused the Mongol Empire to die back in Europe, the Empire extended all the way to the Baltic States. It was at this point, my fellow N1c1-bearers hypothesise, that Mongolian DNA entered the Jostins line.
Unfortunately on closer inspection this tale is not really supported by the DNA evidence. The famous Mongol Expansion haplogroup is actually C3, which is the modal haplogroup of Mongolians. In contrast, N1c1 has existed in Europe for thousands of years, and is far too old and too wide-spread to represent a recent expansion.
I’m going to use this opportunity to invent a new folk history, based on my genotype data, and a bit of research about Medieval Latvia, to explain how we came to carry the N1c1 haplogroup. Before 1211, the Eastern part was the Principality of Jersika, which was ruled over by a branch of the Rurik Dynasty. This large house of Princes were all (with the exception of one non-paternity event) descended from the 9th Century Varangian chieftain Rurik. From examining his living descendants, we can tell that Rurik was also haplogroup N1c1, and maybe it’s from Rurik, via the relatives of the Prices of Jersika, that my paternal line descends. This is not as implausible as it sounds. If you go back far enough, all historical figures have either no descendants in the region they lived in, or a very large number; 1300 years is about “far back enough” and we know that Rurik has a lot of descendants.
Or not, of course. Perhaps my paternal line came over from Finland to Latvia a few hundred years ago? Perhaps haplogroup N1c1 has been so common in the Baltic regions that tracing any sort of descent is hopeless? Perhaps the theory of descent from Medieval Baltic royalty is fanciful, and serves to glorify an otherwise uninteresting line of descent. But that’s why it is called a folk family history, and now seems like a good a time as any to start one.
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It’s strange that you posted this today. I just finished my fine-scale analysis of eastern Eurasian admixture, and you score 2.4% “Central Siberian”.
http://dodecad.blogspot.com/2010/11/fine-scale-east-eurasian-admixture.html
This component peaks in Selkups and Kets, and is also the modal “eastern” component in my sample of Finns.
I was a bit perplexed by this, as I assumed you were of Western European ancestry, but I believe N1c Y-chromosome and a Latvian ancestor make the occurrence of this component much more likely.
looking at your haplotypes u could figure out how many mutational steps your branch of n1c1 is from the rurikid, right?
@razib
I wondered if anyone was going to spot that… Yes, I should really go genotype the Rurikid-specific mutations, but that information isn’t on the 23andMe chip, so I’d need to get out the ol’ PCR machine.
Does 23andMe’s Haplogroup Tree Mutation Mapper give you any useful information?
https://www.23andme.com/you/labs/haplogroup_tree_mut_mapper/?lineage_type=paternal&haplogroup=n1c1
First congratulations to all GNZers, this site is a great advert of all the types of utility personal genetics provides.
The ancestry part is fascinating, my family is composed of 5 genetically distinct individuals with 3 adopted unrelated children from Ghana. When the price comes down I look forward to exploring. As far as I know I am a mix of Italian, English and Welsh and my wife is 100% Neapolitan (itself a mix of Italian, Arab, Spanish, Greek and who knows what else).
It’s a fascinating story!
@Keith Population geneticists should go to your home to study human genetic variability! There’s everything they need :)
From Russia with Love :)
it wuz to russia with love :-)
I’m goign to be a bit of a cynic here. It’s of course neat to be a carrier of a Y-chromosome that appears to mark a cool historical event…but then again, all of us North Europeans (Finland in my case) descend from Rurik with an extremely high probability, if we don’t look at only the patriline.
I actually think the Y-chromosome and mtDNA carry very little information from an individual’s point of view. Luke, you probably know the limitations just as well as I do, but there’s a big group of people who believe that carrying a certain haplogroup means that they have different ancestry from another person from the same population carrying another haplogroup – which is not how it really works. These markers tell one story out of a thousand, and even though it can be a fascinating story, it’s not the whole truth. This is what I keep on telling people who contact me all excited/worried about how they descend from place X or person Y.
Of course, in a population level the Y-chromosome and mtDNA can be informative of population history and are fascinating markers for understanding genome evolution. I’ve published population genetic papers based on both Y/mtDNA and genome-wide data, and in many cases the early results from these effectively two loci have been surprisingly accurate – after all, they used to be the state of the art method for almost 20 years.
Of course, if tracing back their own patrilines and matrilines makes people excited about genetics and population history, that’s great. In this respect, ancestry analyses are similar to disease-oriented personalized genomics: it has great educational value, but sometimes a bit limited information value. And both can be upsetting if people don’t understand how to interpret their results.
tuuli, just finished reading one of your papers 30 minutes ago. small world.
i agree with tuuli’s point in the generality. though in a small minority of cases surprising uniparental results can lead one to rethink one’s genealogical presuppositions. i am thinking here of a friend whose father presumed himself to be descended 100% from irish who arrived in the 1840s, but turns out to have an mtDNA lineage which seems to be found only among north american indigenes.
@Tuuli
You’re completely right, Y/MT lines are an infinitesimally small component of ancestry, and there is something oddly heteronormative about thinking that my father’s father’s father’s father, or mother’s mother’s mother’s mother, is more important than say my mother’s father’s father’s mother. Every story of the genetic paths by which people come to be born is potentially interesting and important, and my Y chromosome line represents only 1 out of 5 billion lines from Rurik’s time to me.
The only reason paternal and maternal lines are more interesting, at least to me, is that the non-autosomes carry unique information on them. It is not that the stories you can tell with MT or Y lines are more important, just that they are a lot easier to tell.
Luke,
I’m very interested in the subtext between you and your GP. What did he/she think about a) your data and b) your presumption that a GP could help you with it? Were you pleased or disappointed that you were referred to a consultant? How long are you expecting to wait for the genetics visit? What will you expect from him/her? Is this any different than what you expected from the GP?
@Scott
The genetics appointment, and follow-up tests and appointments, have all now happened (I actually wrote the above post a while ago, but it has been sitting in the queue for a while). General feeling is that I’m very pleased with both my GP and the clinical geneticist; both were far more helpful that I expected (I sort of expected one or both of them to dismiss me as a time waster).
I’ll have a post up about the experience as soon as I get around to writing it.
i’m actually from Lithuania (neighboring country to Latvia) and my Y/MT groups are R1a1a/H6a1. You should also bear in mind the Baltic origin of these two countries, quite a while when slavic prevailed around: http://en.wikipedia.org/wiki/Balts
From a view of cancer clinical geneticist, we find a strong founder effect of some cancer predisposing genes (BRCA1 for instance) with substantial gradient to surroundings (our ongoing haplotype project).
This region has a long and rich history, e.g. Gediminas dynasty (http://en.wikipedia.org/wiki/Gediminid) which expanded till the Black sea in 14-15 century: http://en.wikipedia.org/wiki/Grand_Duchy_of_Lithuania
and there is something oddly heteronormative about thinking that my father’s father’s father’s father, or mother’s mother’s mother’s mother, is more important than say my mother’s father’s father’s mother
i’ve been thinking about this.
1) it is odd from a genetic perspective
2) but it is totally NOT odd as a cultural universal
3) i wonder if the way cultural transmission works if there is in fact a particular specialness to same sex mentoring and emulation
Australian Aborigines are extremely heteronormative. Men’s business and Women’s business.
I consider haplogroups, both Y and mitochondrial, just one aspect of one’s ancestry, one’s genetic past. Too much emphasis has been placed on them which distorts one’s real origins which have more to do with your ancestors geographical points of origin in the world but for your immediate ancestors than those odd individuals from the tens of thousands of years past. I had to go through my own “Am I Jewish” episode when I found out I was J1. It was a shock as it meant I was disinherited of my European ancestry, and given a whole new ancestry to which I did not have. It is a haplogroup not an ethnic group or a religious belief or means anything to do with one’s appearance, though I am sure some folks will try to find the Semite or Mongolian or sub Saharan African in your looks despite being wholly like whatever ethnic group you belong to and your ancestors belonged to for hundreds of years.
Your parents and their parents are more apt as far as your ancestry than some individual supposedly born somewhere in the world tens of thousands of years ago.
“If you go back far enough, all historical figures have either no descendants in the region they lived in, or a very large number; 1300 years is about “far back enough” and we know that Rurik has a lot of descendants.”
Regarding this point- there is a really excellent paper from Agnar Helgason published in 2003:
A populationwide coalescent analysis of Icelandic matrilineal and patrilineal genealogies: evidence for a faster evolutionary rate of mtDNA lineages than Y chromosomes.
Helgason A, Hrafnkelsson B, Gulcher JR, Ward R, Stefánsson K.
Am J Hum Genet. 2003 Jun;72(6):1370-88.
where they analyze the structure of the deCODE pedigree. Based on these data only 8% of people born in Iceland between 1698-1742 have ancestors living in the present day. Makes one realize that it really is difficult to escape oblivion, even by reproducing! There are some other fascinating analyses regarding the relative contribution of patrilines and matrilines to the present day population…. good stuff.
This all goes to show how subjective a seemingly objective practice can be. For me this is the great part of history, ancient history and tracing your roots.
My father is lappish, and I don’t really know what my mother is. She has a b positive blood type and has dark brown wavy hair. my father says his blood type is ab negative. Although my hair is dark blonde, i tan easily, I hardly ever get sick, no allergies. I used to get psoriasis, I also have b positive blood type, and both my sons are also b positives. We all have prominent cheek bones and a sort of asiatic chiseled look. What haplotype could I be.I will be getting a dna analysis, and want to see how accurate hypothesis these days is.
Please check out “Lithuanian Tatars” or “Lipka Tatars” in wikipedia. The most famous one is Charles Bronson, son of Lithuanian immigrants to the US, but actually of Lithuanian Tatar descent,which went a long way to explaining his non-Baltic appearance (I am of Latvian descent and all 3 Baltic States tend to be fair – blonde and blue-eyed, and have fairly scandinavian features). Not sure of the difference between Tatars and Mongols, but it would be easy after a few generations to confuse the two, and adding to this the fact that the Lithuanian-Polish empire once extended over most of what is now Latvia, I’d say that it’s a very good bet that your ancestor was one of these Tatars.
I’m not a scientist in any way, shape or form, but from what I understand the Lith. Tatars were always a small group to begin with, and for them to survive to present-day there must have been significant intermarriage within their own group, which could have given rise to the type of genetic problems you seem to have encountered.