Paleoanthropology, genealogy and the miracle of DNA. Part Six: William’s DNA results

As per my previous explanatory posts, remember that the various types of tests (a) look at different ancestral lineages (male, female, both) and (b) focus on different genealogical and anthropological timeframes.

Y-DNA test

This test identifies genealogical connections on the direct paternal lineage and also suggests paternal ancestral origins via the Y-chromosome Short Tandem Repeats (STR) or Single Nucleotide Polymorphisms (SNP).

Y-Haplogroup (STR prediction)

I belong to the R1b1a2 Y-Haplogroup.  Haplogroup R is one of the two branches of the mega-haplogroup P and originated approximately 30,000 years ago in Central Asia. It has two main branches, R1 and R2. R1 spread from Central Asia into Europe while R2 spread east into the Indian subcontinent.

R1b is the most frequently occurring Y-chromosome haplogroup in Western Europe. One study determined its origin to be about 18,500 years before the present and are the direct descendants of Cro-Magnon man who dominated the Upper Paleolithic expansion into Europe.  R1b1a2 is believed to have expanded throughout Europe as humans re-colonized after the last ice age which ended approximately 10-12 thousand years ago. The Egyptian pharaoh, Tutankhamun (134 – 1323 BC) also belongs to the haplogroup R1b1a2.

Y-Haplogroup Deep Clade (SNP)

The SNP test put me in the R1b1a2a1a1a1 Haplogroup (short name is U198) which confirms the “lower resolution” STR prediction. According to the FTDNA group project, the highest concentration of R-U198 to-date is in men of English ancestry (but not in the Gaelic population) but even there, R-U198 is uncommon, making up about 2% of the male population. This does not mean that R-U198 necessarily originated in England but it seems likely that members of this haplogroup last shared a common direct-line paternal ancestor around 2,000-3,000 years ago which is indeed young enough to have originated in England after the last ice age had ended. It is believed that R1b in general spread rapidly (and relatively recently) westwards across Europe so the likely point of origin of R-U198 may lie anywhere on a track from south-eastern Europe to Britain.

FTDNA Y-chromosome Database Matches

My paternal line database match results are rather unexciting, due to size limitations of the databases. Over time, more and more individuals will hopefully add their data to them and more high-level matches could result.

·         67 marker test (shorter time to MRCA): No matches.

·         37 marker test: No matches.

·         25 marker test: 11 matches. One is Step 1 (a match of 24/25 markers); the others are Step 2 (a 23/25 match).  The countries of origin are UK/England & Germany.

·         12 marker test (longer time to MRCA): 749 of which many are Step Zero (12/12 match). Many European countries are represented but esp. UK/England/Germany. Five have the last name Hudson; all these are matches at Step 1.  

Hudson surname Y-DNA Project

No Hudson matches at the 25 marker level

Mitochondrial test (Full Genome MtDNA)

This tests sequences of the HVR1, HVR1 and the Coding Regions of the mitochondrial DNA. Due to the mtDNA slow mutation rate, the tests are often more applicable to deep-ancestry predictions than to more recent genealogical applications.

MtDNA Haplogroup

I belong to the Haplogroup U5a. The U5 Haplogroup (Bryan Sykes’ clan Ursula) is the oldest mtDNA haplogroup found in European Homo sapiens. It has a broad geographic distribution, ranging from Europe and North Africa to India and Central Asia. The wide distribution is due to its antiquity, with its appearance immediately following that of haplogroup R, after “the Out of Africa” exit.

The age of U5 is estimated at about 50,000 BP and approximately 11% of Europeans belong to this haplogroup. U5 most likely appeared in the Near East and spread into Europe in an early expansion before the last Ice Age and which also pre-dates the expansion of agriculture in Europe.  It was actually the principal mtDNA haplogroup of the Paleolithic hunter-gatherers in Northern Europe but declined through later times due to the influence of subsequent migrations. Interestingly, U5 individuals may have been come in contact with Neanderthals living in Europe at the time.

The sub-haplogroup or subclade U5a is a later mutation that arose around 20,000 years ago and thus most likely evolved during the last ice age.  The remains of Cheddar Man, a Mesolithic male found in Gough's Cave in Cheddar Gorge, Somerset and who died circa 7150 BC, were DNA tested and it was found that he also belonged to the U5a haplogroup.

The FTDNA U5 project placed me in sub-haplogroup U5a2a1d which is estimated to be about 3,500 years old.  The defining mutations for this group can be seen at Phylotree http://www.phylotree.org/tree/subtree_U.htm.

For many reasons, mtDNA and Y-chromosome lineages may indicate different migration patterns. However, the mtDNA haplogroup U is often associated with the Y-chromosome group R, predictably in Europe.

FTDNA MtDNA Database Matches and Project Groups

HVR1 only.   There are 38 matches, all in the U5 or U5a haplogroup. All have a maternal country of origin from Western or Central Europe.

HVR1 + HVR2. There are seven matches, all of haplogroup U5 or U5a and with maternal ancestry from England, Germany and Spain.

HVR1 + HVR2 + Coding Region (aka Full Genome Sequence, FGS). There are no matches at this (highest) level of resolution.

There are seven other people in the FTDNA U5 project group who are in the sub-haplogroup U5a2a1d. Of these, only three others have known ancestry and are from England, France and Wales.  Apparently, I also have one extra mutation at position 5892 that is unique for this group and this should be useful for identifying people who share a more recent common maternal ancestor.

Family Finder (autosomal) test

This test identifies and matches SNPs (Single Nucleotide Polymorphism) in the autosomal DNA which comes equally but randomly from both parents. It is thus a “gender neutral” test.

FTDNA Autosomal Database Matches

This can potentially match you with relatives descended from any of your ancestral lines from up to five generations.  I had eight pages of “matches” but most only in the “speculative” range with five in the “distant cousin” range (possibly the 3^rd – 5^th cousin range). One match included Hudson as an ancestral name but no other name matches were identified.

Autosomal Population Finder

This compares the subject’s autosomal signature to a world DNA population database which reflects the last 100 to 2,000 years (about 4 to 80 generations).  ).  This data is based on rapidly-emerging technology and will undoubtedly change over the coming years as the population definitions are further refined.

Continent (Subcontinent): Europe

Population: Orcadian reference group.  The DNA make-up is of ancient Britons with some components from the Picts (Iron-Age Celtic folks living in Scotland) and Vikings (Norse explorers who settled in wide areas of Europe from the late 8^th  to the mid-11^th century).

Percentage:  100.00%

Margin of Error: ±0.01%

FTDNA’s autosomal DNA tests use the Human Genetic Diversity Project (HGDP) at the University of Stanford to provide the reference groups for their population studies. In the breakdown I noticed that, the West European groups represented were Basque, French, Orcadian (Orkney Islands) and Spanish.  My own results happened to come back 100% Orcadian. Now clearly these groups are indeed no more or less than reference populations but surely anybody with a post Last Glacial Maximum heritage in northwest Europe would show other components. What happened to the Britons, the Celts and Anglo-Saxons? 

I pursued this concern with the Stamford group. Dr. Bruce Winney of the Department of Oncology at the University of Oxford is a coordinator of the “People of British Isles” study which is itself a component of the HGDP. He wrote:

You are absolutely correct in thinking that the HGDP doesn't really make a good set of reference populations for Europe.  This may well be why you came out 100% Orcadian and it cannot capture Ancient British and Anglo-Saxon ancestry at all.  However, we are hoping that with our project and collaborations, better possibilities are in the way, although I do suspect it will take a year or so before we get there.  You may want to keep an eye on our website (www.peopleofthebritishisles.org ), where we will make available a really interesting paper that we are writing at the moment.

A fascinating preliminary paper is here http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260910/?tool=pubmed 

Contrary to this point of view would be the argument that the DNA of most white Britons has been passed down from relatively few individuals who occupied the region immediately after the last Ice Age; some studies claim that the DNA of the base-population of the British Isles has not changed much since 6000 BC. This would indicate a genetic signature that largely minimizes the effect of subsequent migrations to Britain from Europe. In this instance, the Ancient British (late Paleolithic – Neolithic) component of the Orcadian reference group would make it an acceptable surrogate.  I guess this just reinforces that we are at the cutting edge of the science. At the present time, “Orcadian” remains no more than an autosomal surrogate for the British Isles.