Y-DNA and mtDNA Test Results for
David Robert Ramsdale

This page was last updated on

67 Y-chromosome Short Tandem Repeat (STR) markers

LocusDYS#Alleles
139313
239023
319*14
439111
5385a11
6385b14
742612
838813
943911
10389-113
1139213
12389-228
1345817
14459a9
15459b10
1645511
1745411
1844725
1943714
2044819
2144930
22464a**15
23464b**15
24464c**15
25464d**18
2646011
27GATA H411
28YCA II a19
29YCA II b23
3045616
3160715
3257618
3357017
34CDY a36
35CDY b38
3644212
3743812
3853112
395789
40395S1a15
41395S1b16
425908
4353710
4464110
454728
46406S110
4751110
4842512
49413a21
50413b23
5155716
5259410
5343612
5449012
5553415
564508
5744412
5848122
5952020
6044613
6161712
6256811
6348713
6457211
6564011
6649212
6756512

*Also known as DYS 394

**On 5/19/2003, these values were adjusted down by 1 point because of a change in Lab nomenclature.

***A value of "0" for any marker indicates that the lab reported a null value or no result for this marker. All cases of this nature are retested multiple times by the lab to confirm their accuracy. Mutations causing null values are infrequent, but are passed on to offspring just like other mutations, so related male lineages such as a father and son would likely share any null values.

Allele: one of the different forms of a gene that can exist at a single locus. Since mutations in the allele value occur very slowly with time, one should see the same allele value for a male and his great-grandfather for example.

DYS (DNA Y-Chromosome Segment): a nomenclature system which assigns DYS numbers to newly discovered markers. They are the "names" of each marker.

Locus (plural-loci): a specific spot in the genome. A variable locus will have several possible alleles.

Test results of a deep clade test have determined my exact subclade or branch of the haplogroup to be:

R1b1a2a1a1b*: P312+ M269+ Z196- U152- U106- SRY2627- M65- M153- L48- L238- L21- L176.2- L165- DF19-


(above) DNA Migration Route Map (1) for Haplogroup R1b

(above) DNA Migration Route Map (2) for Haplogroup R1b

(above) DNA Frequency Map for Haplogroup R1b

Haplogroups

The haplogroups are the major branches on the Y chromosome tree, defined single nucleotide polymorphisms (SNPs), which have accumulated along different lineages as Y chromosomes are passed from father to son over many generations. All haplogroups ultimately descend from a single Y chromosome carried by a male that lived in the distant past. The topology of the Y chromosome tree can be reconstructed by typing mutations in different human populations and, as more SNPs are discovered (e.g., M254), the structure of the tree changes. Originally, the Y Chromosome Consortium (YCC) arbitrarily defined 18 haplogroups (A-R), which represent the major divisions of human diversity based on Y chromosome SNPs. Currently there are 20 haplogroups (A-T). In turn, each of these major haplogroups has numbered subgroups, or subclades, that are named with alternating letters and numbers.

Single Nucleotide Polymorphisms (SNPs)

All people have a past that traces back to Africa. Over thousands of years, different groups have traveled and settled around the world. Each group has its own path and history recorded in DNA. Part of that record is found on the Y chromosome. Population geneticists study it using changes in the genetic code called Single Nucleotide Polymorphisms (SNPs). Once discovered, SNPs are placed on the Y Chromosome Consortium's (YCC) phylogenetic tree. This tree can then be used to explore our own shared past and place our Y chromosome in the context of historic migrations.

The Y chromosome contains two types of ancestral markers: Short Tandem Repeats (STRs) trace recent ancestry and SNPs document ancient ancestry. SNPs are small "mistakes" that occur in DNA and are passed on to future generations. SNP mutations are rare and occur at a rate of approximately one mutation every few hundred generations.

Toba catastrophe theory

The Toba supereruption was a supervolcanic eruption that occurred some time between 69,000 and 77,000 years BP at Lake Toba (Sumatra, Indonesia). It is recognized as one of the Earth's largest known eruptions. The related catastrophe theory holds that this event plunged the planet into a 6 to 10-year volcanic winter and possibly an additional 1,000-year cooling episode. This change in temperature resulted in the world's human population being reduced to 10,000 or even a mere 1,000 breeding pairs, creating a bottleneck in human evolution.

The Toba eruption was the latest of the three major eruptions which occurred at Toba in the last 1 million years. The last eruption had an estimated Volcanic Explosivity Index of 8 (described as "mega-colossal"). Dense-rock equivalent estimates of eruptive volume for the eruption vary between 2,000 km3 and 3,000 km3, but the most frequently quoted DRE is 2,800 km3 of erupted magma, of which 800 km3 was deposited as ash fall. It was two orders of magnitude greater in erupted mass than the largest volcanic eruption in historic times, in 1815 at Mount Tambora in Indonesia, which caused the 1816 "Year Without a Summer" in the northern hemisphere.

Although the Toba eruption took place in Indonesia, it deposited an ash layer approximately 15 centimetres thick over the entirety of South Asia. A blanket of volcanic ash was also deposited over the Indian Ocean, and the Arabian and South China Sea. Deep-sea cores retrieved from the South China Sea extended the known distribution of the eruption and suggest that the 2,800 km3 calculation of the eruption magnitude is a minimum value or even an underestimate.

Scientists agree that a supereruption like the one at Lake Toba must have led to very extensive ash-fall layers and injection of noxious gases into the atmosphere, having severe worldwide effects on climate and weather. Additionally, the Greenland ice core data display an abrupt climate change around this time, but there is no consensus that the eruption directly generated the 1,000-year cold period seen in Greenland or triggered the last glaciation.

Genetic bottleneck theory

It is thought that a bottleneck in human evolution about 50,000 years BP could be linked to the Toba eruption. The bottleneck theory has further developed to explain a severe culling of the human population.

According to the supporters of the genetic bottleneck theory, between 50,000 and 100,000 years BP, human population suffered a severe population decrease - only 3,000 to 10,000 individuals survived - followed eventually by rapid population increase, innovation, progress and migration. Several geneticists have proposed that the human race was reduced to approximately five to ten thousand people. Genetic evidence suggests that all humans alive today, despite apparent variety, are descended from a very small population, perhaps between 1,000 to 10,000 breeding pairs about 70,000 years ago.

In the late 1990s it was proposed that this bottleneck could have been caused by the climate effects of the Toba eruption. The supporters of the Toba catastrophe theory suggest that the eruption resulted in a global ecological disaster with extreme phenomena, such as worldwide vegetation destruction, and severe drought in the tropical rainforest belt and in monsoonal regions. This massive environmental change created population bottlenecks in species that existed at the time, including hominids; this in turn accelerated differentiation of the reduced human population. Therefore, Toba may have caused modern races to differentiate abruptly only 70,000 years BP, rather than gradually over one million years. A 10-year volcanic winter triggered by the Yoba eruption could have largely destroyed the food supplies of humans and therefore caused a significant reduction in population sizes.

Gene analysis of some genes shows divergence anywhere from 60,000 to 2 million years BP. This does not contradict the Toba theory, however, because Toba is not conjectured to be an extreme bottleneck event. The complete picture of gene lineages, including present-day levels of human genetic variation, allows the theory of a Toba-induced human population bottleneck.

However, research by archaeologists cast doubt on the Toba theory. Stone tools have been found in southern India, above and below a thick layer of ash from the Toba eruption. The tools from each layer were remarkably similar, and it is suggested that this shows that the huge dust clouds from the eruption did not wipe out the local population of people. Whoever was there seems to have persisted through the eruption.

A 2009 study challenges these findings. Pollen from a marine core in the Bay of Bengal with stratified Toba ash has been analysed, showing that the eruption caused prolonged deforestation in south Asia. This evidence is described as "unambiguous", and further argues that the Yoba eruption may have forced our ancestors to adopt new survival strategies, which permitted them to replace Neanderthals and "other archaic human species". However, both Neanderthals in Europe and the small-brained Homo floresiensis in southeastern Asia survived the Yoba eruption by 50,000 and 60,000 years respectively.

Although these arguments are accepted they are not yet compelling for two reasons: it is difficult to estimate the global and regional climatic impacts of the eruption, and, at the same time, we cannot conclude with any confidence that the eruption actually preceded the bottleneck. Furthermore, a 2010 geneticists' study seems to question the foundations of the Toba bottleneck theory: analysis of Alu sequences across the entire human genome has shown that the effective human population was already less than 26,000 as far back as 1.2 million years BP, suggesting that no Toba bottleneck was necessary. Possible explanations for the low population size of human ancestors may include repeated population bottlenecks or periodic replacement events from competing Homo subspecies.

Migration after Toba

It is currently not known where human populations were living at the time of the Toba eruption. The most plausible scenario is that all the survivors were populations living in Africa, whose descendants would go on to populate the world. However, recent archeological finds have suggested that a human population may have survived in Jwalapuram, Southern India.

Recent analyses of mitochondrial DNA have set the estimate for the major migration from Africa from 60,000-70,000 years BP, around 10-20,000 years earlier than previously thought, and in line with dating of the Toba eruption to around 66,000-76,000 years BP. During the subsequent tens of thousands of years, the descendants of these migrants populated Australia, East Asia, Europe, and finally the Americas.

It has been suggested that nearby hominid populations, such as Homo erectus soloensis on Java, and Homo floresiensis on Flores, survived because they were upwind of Toba.

Genetic bottlenecks related to the human population

"The record of our past is written in our parasites" - per Alan Rogers, professor of anthropology at the University of Utah. Rogers has proposed that the bottleneck may have occurred because of a mass die-off of early humans due to a globally catastrophic volcanic eruption. The analysis of louse genes confirmed that the population of Homo sapiens mushroomed after a small band of early humans left Africa sometime between 150,000 and 50,000 years BP.

Recent research demonstrates that genetic diversity in the pathogenic bacterium Helicobacter pylori decreases with geographic distance from east Africa, the birthplace of modern humans. Using the genetic diversity data, the researchers have created simulations that indicate the bacteria seem to have spread from east Africa around 58,000 years BP. Their results indicate modern humans were already infected by H. pylori before their migrations out of Africa, and H. pylori remained associated with human hosts since that time.

The population of the Eastern African chimpanzee, Bornean orangutan, central Indian macaque, the cheetah, the tiger, and the separation of the nuclear gene pools of eastern and western lowland gorillas, all recovered from very low numbers around 70,000-55,000 years BP.

DNA study deals blow to theory of European origins

Finding Family with DNA Testing

M42

So, in summary, in about 79,000 BP mankind was almost extinguished by the Toba super eruption, the greatest volcanic explosion known to science within the last 200,000 years.

Eurasian-Adam (aka Y chromosome Adam) is the surviving male that passed the M42 marker to all future males. "Adam's" descendants identified by the mutation M42 lived on the plains of east Africa some 80,000 years BP. He is the ancestor of the overwhelming majority of males today because it is his progeny who "founded" all Haplogroups B through R. Only Haplogroup A, which until fairly recently was confined to sub-Saharan Africa, does not carry M42. Otherwise, all the peoples of Africa and all the other continents are descended from M42 and, like ourselves, carry his mutation. It is believed that many of his descendants pushed their way to the African coasts and up into what is now the Sahara (which was then grassland) probably following the migrating herds north.

  M168

M168 predates the "Out of Africa" migration and occurred between 79,000 - 31,000 years BP. One must wonder if this great explosion set the impetus for the mutation that became M168 which is the first common marker of all non-African men. The base Y chromosome moved out of the Great Rift Valley of north east Africa [1], crossing what was probably a very shallow Red Sea, or followed the coast line of the Red Sea northward. Some stayed in the area of Israel, Syria, and northern Iran while others went south and eastward through India, then farther east and island-hopped into Australia.

[1] Volcanic valley formed by a rift running about 5,000 miles from the Jordan Valley through the Red Sea to central Mozambique in southeast Africa. For most of its length the Rift Valley has a width of some 35 miles and, in highland areas especially, is bounded by inward-facing escarpments with a height which often reaches 1,500 to 3,000 ft. It is marked by a series of lakes, including Lake Turkana, and volcanoes, such as Mount Kilimanjaro. The rift system associated with the Rift Valley extends into northern Botswana, with geological faults controlling the location of the Okavango Delta.

  M89

About 45,000 years BP M89 emerged from M168 in north Africa or the Middle East and marks 90% to 95% of all non-African males. These were the first people to leave Africa and eventually a branch reached Australia. While many stayed in the Middle East others followed the game into the vast steppes of central Asia. One branch continued into Iran and the Balkans. About 40,000 years BP a climate reversal began a new ice period, African came into drought and the grasslands that supported so much game reverted to desert, for the next 20,000 years the gateway thru the Sahara was closed.

  M9

40,000 years BP a man with the M9 mutation emerged from M89 somewhere on the plains of Iran or southern central Asia. It was the descendants of M9 that was to expand their range to the ends of the earth over the next 30,000 years. We will call them the Eurasian clan. They followed the herds across the steppes until stopped by the mountain ranges of central Asia - the Hindu Kush, the Tian Shan, and the Himalayas. Here they split with one group going north into central Asia while others went south into the Indian subcontinent producing a new branch.

  M45

The last major branch derived from "N" is the "R" branch which arose 50,000 years BP in the Levant or central Asia and is the parent to several other European and Asian haplogroups. Members of "R" are found in western Asia and southern Asia. Encompasses P,Q,R haplogroups: Q is the path to America now called Amerindians. 35,000 years BP M45 emerged from M9 in a man born in central Asia. Part of the clan that moved north of the Hindu Kush mountains onto the Steppes in the area of present-day Kazakhstan, Uzbekistan, and southern Siberia. This central Asian clan member is the ancestor of most Europeans and almost all Amerindians.

  M207

R: 30,000 years BP M207 emerged from M45 in a man of the central Asian clan. This man is the ancestor of almost all Europeans. This group split into two groups and while most began the colonisation of Europe, a number found their way into India, where archaeologists believe a large migration from the steppes into India occurred within the last 10,000 years. The "R" lineage is found in India, Pakistan, and central Asia.

  M173

R1: 30,000 years BP M173 emerged from M207. Born in a man of the central Asian clan. During this time the Eurasian steppe-lands ran from Germany and possibly France to Korea and China. Part of the Aurignacian culture, they developed more weapons, equipment, and skills. 20,000 years BP the glaciers forced our ancestors to move south into warmer climes. During the warming that began about 12,000 years BP our people moved back into the northern regions. This marker is carried by most men in western Europe. England is 70%. Most found in Spain and Ireland at 90%. Most Europeans are Cro-Magnon on both mtDNA and YDNA.

  M343

R1b: Around 30,000 years BP M343 emerged from M173. They are directly descended from the Cro-Magnon people and are at 70% in England and 90% in Spain and Ireland. In parts of north-western Ireland it reaches 98%. During the last ice age they moved into the warmer climate of Spain, Italy, and the Balkans. When the ice receded they moved west and north. There are many sub-lineages in R1b that are not yet well defined.

  P25

R1b1: The majority of R1b fits into this group and are most frequent in men in western Europe and many in parts of the Americas. P25 is not yet known to the IBM/Geographic Genome project.
P-25 has been re-assigned from R1b to R1b1, and M343 is now the node of the tree between R1 and R1b1.

  P297

R1b1a - this is a newly projected branch.

  M269

R1b1a2: The majority of R1b1-carriers of European descent belong to this subclade. M269 is not yet known to the IBM/Geographic Genome project.

  L23

Presumed R1b1a2a

  L150

Presumed R1b1a2a1

  L51

Presumed R1b1a2a1a

  L11

R1b1a2a1a1

  P312

R1b1a2a1a1b


This colour denotes the Y-chromosome SNPs leading to Haplogroup R
This colour denotes the Y-chromosome path of R leading to R1b1a2a1a1b

The R1b1a2 (M269) subclade is most prominent representative of the R1b branch and is abundant over Western Europe, especially in Atlantic coast countries. Nearly 90% of Basques carry this subclade and downstream or derivative subclades have been detected among this population: e.g. R1b1b12a2c (M153) and R1b1b12a2d (M167). These latter subclades are likely to have originated in the Basques. TMRCA for R1b1b12a2c (M153) is quite ancient: 18-21,000 years BP. TMRCA for R1b1b2/M269 in Sardinia was estimated at 23,000 years BP and in Sweden at 9,000 years BP. The R1b1b2/M269 is the most common subclade in the U.S. due to its hegemony in Western Europe and the latter's colonisation of the Americas. A glacial refugium of the R1b1b2/M269 subclade has been suggested to lie in Anatolia (Turkey) and may have entered this region via the Bosporus Isthmus. The presence of R1b in Lebanon is linked to European invasion during the Crusades (11th to 13th centuries AD and likely typified by the so called WES1 modal Haplotype) and Muslim expansion (beginning in the 7th century AD).

R1b1a2/M269 is also found in India and in Iran and is somewhat higher in the north than the south for both locations. R1b1b2 is present in Africa and the United States and it is apparent that as a prolific subclade, this Y-chromosome has traveled extensively.

mtDNA Results: K1c2

(above) My mtDNA Haplogroup (K1c2) CRS Differences

"Katrine", the founding mother of mitochondrial DNA haplogroup K, was one of the "Seven Daughters of Eve" as listed in the 2001 book of that title by Bryan Sykes. A lot has happened since 2001, but the book is still valuable. Katrine lived about 16,000 years ago. Perhaps the oldest known K descendant was Oetzi the Iceman whose frozen body was discovered in the Alps in 1991. Estimated at 5000 years BP, the Iceman proved to have the basic mutations for a K: 16224C and 16311C. Every K is a cousin of Oetzi.

Although the "defining motifs" for K are unusually shown as Hyper Variable Region 1 (HVR1) mutations 16224C and 16311C, virtually all K's have 16519C in HVR1 plus 073G, 263G and 315.1C in HVR2. Those K's not shown as having those mutations likely have not been tested for them, although "back mutations" do occur. The FamilyTreeDNA mtDNAPlus test should find them all. Virtually every K will also have other mutations as part of a subclade or as personal mutations. All mutations are differences from the Cambridge Reference Sequence (CRS). There is at present no K subclade test publicly available.


Top of Page