Genetics February 1, 2015 vol. 199 no. 2 267-279
Genetic Characterization of Human Populations: From ABO to a Genetic Map of the British People
Walter Bodmer
From 1900, when Landsteiner first described the ABO blood groups, to the present, the methods used to characterize the genetics of human populations have undergone a remarkable development. Concomitantly, our understanding of the history and spread of human populations across the earth has become much more detailed. As has often been said, a better understanding of the genetic relationships among the peoples of the world is one of the best antidotes to racial prejudices. Such an understanding provides us with a fascinating, improved insight into our origins as well as with valuable information about population differences that are of medical relevance. The study of genetic polymorphisms has been essential to the analysis of the relationships between human populations. The evolution of methods used to study human polymorphisms and the resulting contributions to our understanding of human health and history is the subject of this Perspectives.
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36 comments:
Very interesting and supports the history that the Cornovii were moved from the Welsh Marches to Cornwall in the Dark Ages.
Presumably the reds represent the English Settlement (450-550AD)
They need to include Irish.
Would be interesting to see if they form a sub-unit of sorts with the Welsh ?
Would be concerned about the title being misrepresentative since The Isle of Man, Channel Islands and The Irish Republic are excluded from the Study according to the map shown.
I'm one of those red squares, and helped to recruit some 50 other people from the north Midlands. Can't imagine a better project to have been a summer student on.
And yes, it is POBI. A long and sometimes difficult gestation!
I'm afraid the map is completely over my head. The symbols appear coded to the locations where they generally lie, not to any ancient "ethnic" or haplogroup background. Nor do I understand what the tree in the upper right is supposed to be a tree of. Hope the article explains.
sb10: the tree shows genetic relationships (phylogenetics) of the populations. Most distant (time separation) are the Orcadians (Vikings) and Welsh (Celtic or Britthonic?), plus Scotland, N. Ireland and England. The Orcadians are an out-group - so equally distant from all those groups. Then, within that, the Welsh are separated from the Scotland and England cluster; and then finally, England and Scotland split into north and south of the mainland. If you are Midlands (South Central) like me, you are more similar to Devon and Cornwall than Wales or Scotland/N England. And the whole of the mainland is more similar to each other than to Scotland (provided I learned what I think I learned on the phylogenetics course I went on in December!)
Mike Thomas: Irish are not included because there was no money to do the Irish. Different country and all that. No reason why another genetic genealogy group couldn't repeat this for Ireland (provided they could get funding...) and bring the data together.
The symbols that look the same (colour and shape) are from people who genetically group together (similar haplotypes). The squares than show the place at the centre of their four grandparents' birthplaces. So the yellow circle cluster shows people with similar genetic profiles, who may have families from N Ireland or W Scotland, but who nevertheless share recent genetic ancestry. People with grandparents from N Wales tend to be genetically similar to one another (with one exception, a yellow square, whose ancestors must have migrated north at some point!). The study relied on self-reported grandparental birthplace - I know I had to ask my grandparents where they were born, and it was actually closer together than I thought (15km max distance for me).
So we can get Y Hg assignments of 70k year old neanderthals, but when it comes to meaningful and recognizable early european euro tribal populations that would actually be useful, we get meaningless shapes in varied colors..
thanksss... totally useful. Lets all speculate who is a pink quadrangle now, guys.
arch,
This is a teaser article. The main one is coming in Nature; be a bit patient, as we have all been waiting for years for the results. A bit longer won't hurt all that much.
I for one am very excited to see the overall results presented.
This seems to be very late publication of the Welcome project of 2012. Albeit the tree is new.
http://www.wired.co.uk/news/archive/2012-07/04/genetic-mapping-britain
I tried to link it to pre Roman tribes in 2012 but it seems to me that the results are reflecting much more recent population circulation loops. For example you can see the modern English/Scottish border.
Also those two separate yellow and pink populations in South Wales represent the Landskyr Line, a linguistic division that is still very obvious in the area today. Geographic and administrative barriers create natural circulation loops. Think school zones etc.
Also in 2012 someone said that the colours and shapes were random and had no genetic association. A pink circle is not related to a pink square. A pink circle is not related to a yellow circle. Not sure if that has changed.
The POBI Green Squares Cluster in NW Wales are based on ~600,000 Autosomal DNA SNPs. Bodmer's colleague, Dr. Donelly has said this Welsh Cluster is "Ancient British" I agree with him, The YDNA Wales Discovery Group has done Full YDNA Sequencing of 10 R1b-L371 men. https://groups.yahoo.com/neo/groups/RL371/info Each of these 10 R1b-L371 have 44 common Y-SNPs in the oldest Group A level pointing back to at least 5,000 YBP below R1b-DF13. These ancient L371 men can be traced back into France / Netherlands / Low Lands and arrived on the NW Wales Shores from the sea.
I am sure that Bodmer and others on the upcoming POBI Paper in NATURE will discuss the age of the various clusters.
This should include a comparison of more recent clusters such as the Anglo Saxon (RED Squares) which arrived in Eastern Britain (not Western Wales) about 1300 YBP (700 AD).
Then compare those RED Squares to the GREEN Squares in NW Wales which represent a "Ancient British" population cluster which dates back to at least 5000 YBP (3000 BC).
One can look at the BRANCH LENGTHS in the upper right hand section of the POBI map and see that the GREEN Squares have a BRANCH LENGTH 5X to 7X of that for the younger RED Squares.
There were two major English industrial zones in the 1800s. Newcastle and the region between Manchester and Liverpool. They were major draws to local populations.
My Cumberland family lines (white triangles) crept east towards Newcastle in the 1800s and you can see this in the map. I am not sure what the yellow Scottish circles of North West Cumberland are. It could be the 10th century occupation of the Solway plain by the Kings of Strathclyde, or something to do with the nuclear power station (Sellafield).
The blue triangle "West Yorkshire" cluster looks like the folk who live in the Pennines to me (mountains) as opposed to the red squares of the folk on the broad southeastern plains.
Pink crosses are the Welsh Marchers (English folk who live near the Welsh border). A geographically distinct gap/valley between the Pennines and the Welsh mountains.
Plains folk (red), mountain folk (blue) and Marchers (pink) are all mixed up in the Manchester ship canal industrial zone as expected. My best guess is that these folk would once (preindustrial) have painted like the Marchers (pink) although Pennine blue is also possible.
@Arch Hades, you're in the wrong post.
Very cool and what I expected (apart from Cornwall - didn't know about that at all).
Ty all for extra info.
A relief map helps to illustrate the clusters (note the surrounded blue uplands)
http://gepeskonyv.btk.elte.hu/adatok/Anglisztika/49Pint%E9r/LRSetup/UK/GEOGRAPHY/images/UK_topo_ok.jpg
"Would be concerned about the title being misrepresentative since The Isle of Man, Channel Islands and The Irish Republic are excluded from the Study according to the map shown."
Actually the Channel Islands are part of Normandy, the only part the British monarchs still retain.
For those commenting on the Irish not being represented, are you suggesting the people in Northern Ireland sampled were only colonists? There was much contact going back to prehistory between Ireland and Scotland and it seems apparent most native north and west Irish peoples' ancestors (paternally at least) came via north Britain. Look at M222 for instance.
George, the N Wales green may be ancient British but they likely represented only one group of them as Romans wrote about the differences between the Brythonic groups in various parts, ie. the Belgae of ancestry from Germany different in culture to the the British of north England, Caledonii with large numbers of red heads vs darker Silures of mediterranean looks with curly hair, etc.
Any Aberdeenshire folk know why there might be a difference between Peterhead/Fraserburgh (white square) and the rest of Aberdeenshire (pink circles)? I am stumped.
Will there be any further county/regional break-downs when the full paper and dataset are released? I'm guessing so, since Kent and Argyll (1000 Genomes) are regional samples from this project but aren't labelled on the map.
Annie Mouse,
The blue triangle "West Yorkshire" cluster looks like the folk who live in the Pennines to me (mountains) as opposed to the red squares of the folk on the broad southeastern plains.
I don't know whether West Yorkshire was defined as modern West Yorkshire or historical West Yorkshire (i.e. The West Riding of Yorkshire, which basically encompassed modern West and South Yorkshire). If it's the former, then modern West Yorkshire is a small, highly urbanised county whose three cities' significant 19th century growth probably involved large migration from surrounding rural areas.
But considering there aren't really many other counties (especially urbanised ones) to compare West Yorkshire's distribution to, perhaps it's normal for many county clusters to overlap with surrounding regions, especially those with evidence of a shared background, e.g. similar accent, dialect, surnames etc., as between Yorkshire and Lancashire. At any rate, the Pennines are barely inhabited and aren't important in the distribution of blue triangles, IMO (if they had any effect at all, it would be to reduce West Yorkshire's affinity with Lancashire, not enhance it, as seen).
Pink crosses are the Welsh Marchers (English folk who live near the Welsh border). A geographically distinct gap/valley between the Pennines and the Welsh mountains.
It's not a valley. People whose families have lived on the Welsh border (English side, at least) have a mixture of English and Welsh ancestry. In terms of surnames in my Ludlow lineage, it seems to be about 50/50. Occasionally, they'd receive Welsh or English input, in my ancestors' case always from North Wales or the West Midlands. Similar, but more modern (and more extreme), examples of this probably explain some Welsh Borders outliers deep in England and Wales.
Plains folk (red), mountain folk (blue) and Marchers (pink) are all mixed up in the Manchester ship canal industrial zone as expected.
I'd say Welsh Borders folk were sampled in two distinct regions, and people along the border with mid-Wales weren't included. Red represents everyone from England sampled who didn't make the Devon, Cornwall, Cumbria, Northumbria, W. Yorkshire or Welsh Borders categories, so is geographically unspecific, and, in the absence of a Lancashire-specific label, the red squares in the Manchester region may well just represent people with four grandparents from Lancashire.
@GRey
I think what we are seeing in Cornwall is the division into the modern English administrative counties of Devon and Cornwall. But it could be a residual effect of the Cornish language which died out in the 1700s sometime.
@Annie Mouse
I don't know the answer but the place names are a jumble of Saxon and not:
Fraserburgh, Peterhead, Newburgh, Stonehaven
vs
Aberdeen, Banchory, Braemar, Banff
@ Annie Mouse
Possibly due to the resettlement of Northumbrians (and some people from the Midlands) around Aberdeenshire during the Canmore dynasty. Listen to this amusing BBC Radio 4 item, Jim Naughtie is an englisman.
http://news.bbc.co.uk/today/hi/today/newsid_9501000/9501822.stm
The title of the project is a bit of a misnomer because it covers the UK not the whole of the British Isles. There is a separate project for Ireland - the Irish DNA Atlas Project:
http://www.isogg.org/wiki/Irish_DNA_Atlas_Project
There was a presentation up on Youtube from September that I watched over Christmas on the results of the POBI, given by Daniel Crouch, one of the guys who worked on the project as the genetic statistician, to a group called Genetic Genealogy Ireland.
They indeed did a haplotype analysis on the clusters that I think suggested coalescene of the clusters to a Celtic block involving relatively more sharing with North Europe and Iberia and an Anglo-Saxon block involving relatively more sharing with North Europe and Germany and France in different patterns.
This stuff is all haplotypes based because common SNP frequencies essentially don't really differ usefully between these populations; you can't get these kind of components out of unlinked SNPs in Britain, apparently from what I remember of Crouch, because they essentially don't really differ sufficiently. He also mentioned rare SNPs in future will allow them to do away with much of haplotype analysis, but not this needs very high levels of genotyping per individual.
Anyway, dating the coalescence of the cluster, IRC, is difficult because they're very, very admixed and it was more the sharing of the populations that hinted at the main formation of the clusters during the Anglo-Saxon period. (Christine Kenneally's book on genetic genealogy "The Invisible History of the Human Race" has some discussion of the POBI and how she visited the POBI and their theory that each cluster seems to correlate to an ancient kingdom, if anyone is really in suspense).
Written interview with him is still up but unfortunately it seems that the video of the presentation has been taken down, perhaps because it was too much of a spoiler for their paper - http://ggi2013.blogspot.co.uk/2014/09/daniel-crouch-genetic-analysis-of.html There might be an archive somewhere online.
Now, for those interested in Ireland (as GGI unsurprisingly were) there is a new project going on in Ireland, that Crouch discussed, for Irish only (assume this is the http://www.isogg.org/wiki/Irish_DNA_Atlas_Project Debbie Kennett mentions), and perhaps they can link their dataset with the British one at some point. Apparently it is more scrupulous (8 great grandparents from the same area rather than 4 grandparents) although Crouch didn't think this would give them any more statistical power particularly.
More on the NW Welsh represented by the POBI 'Green Squares': Bodmer says on page 276 of his paper "...with the next major perturbation being the arrival of agriculture 5000–6000 years ago ..." So Bodmer is saying that agriculture arrives between 5,000 YBP to 6,000 YBP based on Autosomal DNA analysis of the 17 POBI Clusters ... the oldest or 'Ancient British' being represented by those 'Green Squares' in NW Wales. My independent analysis of male Y-DNA in this area in NW Wales (R1b-L371)indicates a Y-DNA L371 Founder / Adam age of 5,100 YBP. This 5,100 YBP age is confirmed by independent analysis at YFULL.com showing the same 5,100 YBP. Here's a PDF of the Bodmer paywalled paper for your enjoyment and comment. http://goo.gl/qP2Crb
The branch lines at the top are very interesting as they appear to show how the UK clusters relate to one another.
So, we can see that West Yorkshire, Devon and the Welsh Borders are closest to the red putative "Anglo-Saxon" cluster. Even Cornwall is closer to the English than anywhere else.
What strikes me as really interesting is that the Scottish and English clusters are closer to each other than either is to the Welsh clusters.
I wonder if this is due to more "Anglo-Saxon" admixture in Scotland during historic times. For instance, we know that the Angles settled in Northumbria as far north as the Firth of Forth and then in the 12th century David I of Scotland resettled people from Northumbria and other parts of England in to the NE of Scotland - Moray, Aberdeenshire. Gaelic was replaced by English in this part of Scotland eventually.
Another thing about Scotland is that the highland clearances must have had an impact on the DNA of the indigenous Pictish/Gaelic Scots, many of whom were forced to leave the highlands.
Apart from the Orkneys, the main break is between Wales and the rest. This seems to reflect the higher proportion of Mediterranean ancestry in Wales, leaving the rest as more Celtic.
The next break is between most of England and the north. This seems to reflect the greater proportion of Anglo-Saxon ancestry in the former.
The northern British branch is then divided into a northern Scotland branch and a northern England/South Scotland branch. I assume that the first branch the first branch covers the Picts and the Scots and the second branch covers Cumbria and Northumbria (too bad that few samples were taking from southwestern Scotland—that is, northern Cumbria—but I expect that they would be similar to southern Cumbria). It is interesting that the Northumbrian sample is closer to Cumbria than to the rest of England. That seems to mean that, though the Anglo-Saxons conquered the area of Northumbria, they did not settle as heavily there as in more southerly areas. So I would say that Northumbria and Cumbria are areas in which relatively Brythonic Celts (as opposed to Brythonized Mediterraneans in Welsh) most survived.
Finally, the branching among the northern Scotland group seems to reflect the differing ratios of Scottish to Pictish ancestry.
Gregory76,
I don't think there is much autosomalDNA evidence of Mediterranean ancestry in the Welsh.Do you perhaps mean Neolithic?
The POBI project appear to be saying that the Welsh show a genetic affinity with Western France which is the Atlantic not the Mediterranean.
Also, you describe the Welsh as Brythonised Mediterraneans as opposed to the Brythonic Celts in Northumbria - I am not quite sure what you mean? You are aware that the Welsh still speak a Celtic language!
Mists of Avalon,
I am thinking of the Mediterranean peoples who settled in Ireland and Western Britain in the Neolithic, before the Celts.
Yes, the Welsh are certainly Celtic in terms of language and self-identification. But often in human history people have been conquered by others and taken on the conquerors language, self-identification and other cultural traits, but still retained their phenotype and gentotype.
Based on what we have in Y samples in East Anglia, I still think that this project is flawed for the region. We now have 570 family lines in the East Anglia dna project, and typically with ancestry back to at least the early 18th century.
They are more or less evenly divided in descending order between R-U106 [Anglo], R-U152 [s Germanic/n French] , R-L21[Celtic/British], I1 [Danish Viking], R-DF27 [e France & ..], I2 [Swedish/n Germanic] and the rest, mainly G2, E1, R1a & J.
Additionally, R1b, I and the minority haplogroups are generally in distinctly separate geographic areas.
My main point, is that anything that appears to shows the region as a uniform whole doesn’t match our own samples, nor is consistent with historical records.
Whether this is from the short minimum period their project goes back to [grandparents] or the way they have interpreted their results or both, I don’t think it is a valid representation for East Anglia.
Stephen Arbon
Sarbon,
I would make the point that the POBI clusters relate to Autosomal DNA, which will give a better idea of a person's general ancestry than just the paternal Y-DNA alone.
East Anglia was heavily settled by the Angles and then later the Danes so it doesn't surprise me that the POBI project has detected a genetic input from North Germany, Denmark.
From what I have read, the red swathe that covers much of lowland England has the largest "Anglo-Saxon" input but it is also remarkably homogenous.
I am no expert but I suspect this is due to more mobility and sharing of genes within lowland England than in other parts of the country that were more geographically/culturally isolated.
@sarbon
The map is based on some 500,000 SNPs across the genome, not just one SNP on the Y chromosome. Whilst the Y may be informative about the paternal ancestry, it says nothing of the 'neighbourhood' into which the ancestor was born. After about 30 generations, most of the original autosomal dna is flushed out and has been replaced by those neighbours. The striking observation in that map is the clustering within the British Isles, even if it doesn't tell us anything directly about how the clusters originally formed, eg. did an anglo saxon male marry a british woman or did a male of norse descent but born in Ireland with an irish mother, flee in the 10th century to the north west and marry an anglo saxon or british woman.
I’m one of the blue circles in Devon. My grandparents were obviously part of a noticeably immobile population which is more-or-less unique to (and very much predominant in) Devon, so presumably I’m descended from those Bronze Age folks who left such a wealth of archaeological remains on Dartmoor. Or am I? Comments in this blog suggest that we can use the “tree” to date the different groups and the time of their arrival (?) in the various locations. Measuring by eye, it looks as though my Blue Circle people appeared in Devon approximately 2,000 YBP. So those Bronze Age remains were left by someone else. Where did they (all) go? Or have I misunderstood something?
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