Friday, May 17, 2013

DNA Testing Results 5/17/13

It's Here!:
Wow! So after nearly two months of waiting, I finally got my results back from 23andMe. Drum roll please... The DNA genome testing (it is technically called 'genotyping') cost me just $99. They send you a kit with a test bottle in the mail. You fill it with saliva, then ship it back (in the prepaid container the kit came in). And they test it in their laboratory somewhere in northern California. They received my completed sample on March 22, 2013 (the kit was a birthday present I gave myself). Today is May 17, 2012 and here are the results:
Rob Taylor's Ancestry Composition 

How it works:
23andMe's lab receives your sample, DNA is extracted from cells preserved in your saliva. The lab then copies the DNA many times — a process called “amplification” — growing the tiny amount extracted from your saliva until there is enough to be genotyped.In order to be genotyped, the amplified DNA is “cut” into smaller pieces, which are then applied to their DNA chip, a small glass slide with millions of microscopic “beads” on its surface (read more about this technology). Each bead is attached to a “probe”, a bit of DNA that matches one of the approximately one million genetic variants that they've tested previously. The cut pieces of your DNA stick to the matching DNA probes. A fluorescent signal on each probe provides information that can tell them which version of that genetic variant your DNA corresponds to.   Although the human genome is estimated to contain about 10-30 million genetic variants, many of them are correlated due to their proximity to each other. Thus, one genetic variant is often representative of many nearby variants, and the approximately one million variants on 23andMe's genotyping chip provide very good coverage of common variation across the entire genome. Their research team has also hand-picked tens of thousands of additional genetic variants linked to various conditions and traits in the scientific literature to analyze on their genotyping chip. As a result they can provide you with personal genetic information available only through 23andMe.

Dad's Family (Robert Elvon Taylor, my "Y"-chromosome):
My Paternal sub-Haplogroup is I2b1*, of which its main Haplogroup is I2. Haplogroups are groupings of individuals with the same genetic characteristic at the same location on the DNA. Haplogroups represent fractures in the human family tree and are tied to deep ancestry (think in terms of thousands or even 10s of thousands of years) and are shown in the human Phylogenetic tree. The value is that it tells researchers about migratory patterns and gives information about the age of the group of people.

This is the best single location explanation I have found on the Internet for our Y-DNA (as you read it, look for references to the M223 SNP Location: Haplogroup I

This is the current Wikipedia entry for M-223 (our subclade within I2 Haplogroup):
"I-M223: The age of YSTR variation for the I-M223 subclade is 13.2±2.7 kya and 12.3±3.1 kya. I-M223 has a peak in Germany and another in eastern Sweden, but also appears in Romania/Moldova, Russia, Greece, Italy and around the Black Sea due to movement of Alans/Sarmatians/Scythians. Haplogroup I2a2a has been found in over 4% of the population only in Germany, the Netherlands, Belgium, Denmark,probably moving tribes of Dacians. England (excluding Cornwall), Scotland, possibly descendants of the Iazyges, Legio VI Victrix, ] 175 410 AD, also the southern tips of Sweden and Norway in Northwest Europe; the provinces of Normandy, Maine, Anjou, and Perche in northwestern France; the province of Provence in southeastern France; the regions of Tuscany, Umbria, and Latium in Italy; Moldavia and the area around Russia's Ryazan Oblast and Republic of Mordovia in Eastern Europe maybe AgathyrsiKhazars. Of historical note, both haplogroups I-M253 and I-M223 appear at a low frequency in the historical regions of Bithynia and Galatia in Turkey, possibly descendants of the Thracians, Cataphract of Alexander the Great at 334 BC, and Varangians, who are historically recorded to have invaded those parts of Anatolia from the 9th to 11th centuries. They ventured southwards along the rivers of Eastern Europe, connecting Scandinavia with Constantinople and Byzantine Empire. Haplogroup I2a2a also occurs among approximately 1% of the Sardinians - Vandals. The subclade divergence for M223 occurred 14.6±3.8 kya (Rootsi 2004).
Haplogroup I-M223 can be further subdivided in several subclades designated in the Y2012 ISOGG tree as follows: Haplogroup I-M223* with no further known polymorphisms, Haplogroup I-M284 defined by M284 polymorphism and including an undergroup Haplogroup I-L126 reserved for individuals derived for the L126/S165, L137/S166 polymorphisms, Haplogroup I-L701 associated with L701 polymorphism, and Haplogroup I-Z161 denoting individuals derived for the Z161 polymorphism. I-Z161 is further subdivided into I-Z161* with no known polymorphisms, I-L801 defined by L801 polymorphism, and I-L623 designated by L623 polymorphism. I-L801 (L801) is further subdivided into I-L801* and I-P95, the latter being associated with the P95 polymorphism. Recently, several new SNPs have been identified including Z76, which is believed to be phyloequivalent with L801, and L812 Roots polymorphism. The recently added L801 Continental is estimated to be around 3000 years old. Other SNPs currently being investigated for placement in the tree include: Z78, Z79, Z190, and L1198, all of which are believed to be downstream of both Z161 and L80."

*Haplogroup "I2b1" is called "I2a2a" most places now, except for at the testing companies like FTDNA and 23andMe, which are slow to update their nomenclature. This fact is born out in the fact that the latest Y-DNA Haplogroup research page lists the mutations found in my Y-DNA as belonging to the I2a2a subgroup, as: S151, L36/S152, L59, L368, L622, M223, P219, PF3859, S24,P220/S119, P221, S120, P222, U250/S118, P223, PF3860, Z77. On the 23andMe site Haplogroup Mutation report I see the same mutations still listed as I2b1: 

I2b1 defining mutations
variantcallancder
i4000090 (M223)AGA
rs17221964 (P219)GTG
rs17222244 (P223)GCG
rs17315723 (P222)GCG
rs17316729 (P221)ACA
rs17316910 (P220)TGT


Haplogroup I2a2a (formerly I2b1) 

Amounts to 90% of I2a2. The Taylor heritage is linked to SNP M223 Haplogroup I2a2a - called the Stonemasons. Haplogroup I2a2a has two basic parts - Continental & Roots. The Continental clades seem to have had their foundings some 9,000 years ago on the north German plain. I2a2a-M223 (which is possibly Danubian) has a peak in Germany and another in eastern Sweden but also appears in Russia, Greece, Italy and around the Black Sea. There is a little among Armenians. An earlier, but more detailed, distribution map shows a little in the Near East, North Africa and along the Western seaboard of Iberia. This haplogroup occurs at a moderate frequency among populations of Northwest Europe, with a peak frequency in the region of Lower Saxony in northwestern Germany. I have a tendency to believe that our first Haplogroup I2a2a male was pre Celto-Germanic-Danubian. That their ancestors traveled from around the Black Sea either up the Danube or through the European Plain of the Ukraine, Poland and Germany. Since I2a2 ancestors were co-founders of several old Ukraine cities I tend to favor the European Plain migration route along several rivers that exist in the European Plain. Particularly the Western Bug & Vistula Rivers to the Baltic Sea. Haplogroup I2a2a has five subclades - I2a2a1(British), I2a2a2(Continental), I2a2a3(Germanic), I2a2a4(Anglo-German) & I2a2a5. 

Main Haplogroup I2 is most abundant in eastern Europe and on the Mediterranean island of Sardinia, where it is found in 40% of the male population. Like its brother haplogroup, I1, I2 expanded northward at the end of the Ice Age about 12,000 to 14,000 years ago. But unlike I1, which expanded from the Iberian peninsula into northwestern Europe, I2 radiated outward from the Balkans into the eastern half of the continent as well as into northern Europe (areas which are now English, German, Dutch, Norse or Gaelic, in the the British Isles, Normandy, the Netherlands and Scandinavia). Haplogroup I is called "EUROPE'S NATIVE SONS" and is found in a frequency of about 20% in Europe. Haplogroup I2 might have originated in southeastern Europe some 17,000 years ago.

Doggerland: A Real-Life Atlantis
One of the places that was repopulated as the Ice Age waned no longer exists. During the Ice Age and for some time afterward, lower sea levels exposed much of the area that is now covered by the North Sea. Known as "Doggerland," it must have been occupied by men bearing haplogroup I, because today that haplogroup is abundant in all of the countries surrounding the North Sea. As the meltwaters of the retreating Ice Age glaciers caused sea levels to rise, the low-lying forests and wetlands of Doggerland gradually became inundated. Doggerland's inhabitants retreated to the higher ground that is now the North Sea coast. Today the I2b1 branch of I2 is common in the Netherlands and Germany. Like I1, which is most common in Denmark and Sweden, it was probably found among the men who inhabited Doggerland. The presence of I2b1 in Sweden, particularly the northern province of Vasterbotten, is likely due to the more recent arrival of German and Dutch immigrants during the 17th century.

Germanic or Viking Origins (I2b1)
The distribution of Haplogroup I2b1 is closely correlated to that of Haplogroup I1 except in Fennoscandia (Scandinavian Peninsula, the Kola Peninsula, Karelia and Finland), which suggests that it was probably harbored by at least one of the Paleolithic refuge populations that also harbored Haplogroup I1; the lack of correlation between the distributions of I1 and I2b1 in Fennoscandia may be a result of Haplogroup I2b1's being more strongly affected in the earliest settlement of this region by founder effects (defined as a genetic variation that occurs when a new population is established by a very small number of individuals from a larger population) and genetic drift (defined as a change in the relative frequency in which a gene variant occurs in a population due to random sampling and chance) due to its rarity.The Germanic settlement of Britain resulted in Anglo-Saxon, or English, displacement of and/or cultural assimilation of the indigenous culture, the Brythonic speaking British culture causing the foundation of a new kingdom, England. As in what became England, indigenous Brythonic Celtic culture in some of the south-eastern parts of what became Scotland (approximately the Lothian and Borders region) and areas of what became the Northwest of England (the kingdoms of Rheged, Elmet, etc) succumbed to Germanic influence c.600—800, due to the extension of overlordship and settlement from the Anglo-Saxon areas to the south. Between c. 1150 and c. 1400 most of the Scottish Lowlands became English culturally and linquistically through immigration from England, France and Flanders and from the resulting assimilation of native Gaelic-speaking Scots. The Scots language is the resulting Germanic language still spoken in parts of Scotland and is very similar to the speech of the Northumbrians of northern England. Between the 15th and 17th centuries Scots spread into Galloway, Carrick and parts of the Scottish Highlands, as well as into the Northern Isles. The latter, Orkney and Shetland, though now part of Scotland, were nominally part of the Kingdom of Norway until the 15th century. A version of the Norse language was spoken there from the Viking invasions until replaced by Scots.Sources:  http://www.familytreedna.com/public/Cain-Caine/default.aspx?section=results http://en.wikipedia.org/wiki/Haplogroup_I2_(Y-DNA)#I2b1 http://www.en.wikipedia.org/wiki/Haplogroup_I2_(Y-DNA)  As Haplogroup I2b1 is somewhat rare, and comprises less than 10% of the total Y-chromosome diversity of all populations outside of Lower Saxony (A state in northwest Germany). The distributions of Haplogroup I1 and Haplogroup I2b1 seem to correlate fairly well with the extent of historical influence of Germanic peoples.Haplogroup I2b1 has been found in over 4% of the population only in the following countries:  Germany, the Netherlands, Belgium, Denmark, England (not including Wales or Cornwall), Scotland, and the southern tips of Sweden and Norway in Northwest Europe; the provinces of Normandy, Maine, Anjou, and Perche in northwestern France; the province of Provence in southeastern France; the regions of Tuscany, Umbria, and Latium in Italy; and Moldavia and the area around Russia's Ryazan Oblast and Republic of Mordovia in Eastern Europe.

Mom's Family (Penny Smith Taylor, my "X"-chromosome):
My Maternal sub-Haplogroup is H1a1, of which its main Haplogroup is H1. Haplogroup H1 is widespread in Europe, especially the western part of the continent. It originated about 13,000 years ago, not long after the Ice Age ended.The H1 mutation likely arose in a woman living on the Iberian peninsula. Even today, almost 25% of the Spanish population carries the H1 haplogroup. With the waning of the Ice Age, some populations grew rapidly and expanded northward from the Iberian refuge. Others turned southward, crossing the Strait of Gibraltar into northern Africa.Following the Atlantic coast northwards, hunter-gatherers carried H1 into what would become the British Isles. As the ice sheets retreated farther they carried the haplogroup as far as Scandinavia.

The H1 haplogroup remains quite high in the present-day populations of Britain and Ireland as well, ranging from levels of 15% to 40%.About 13% of present-day Europeans trace their maternal ancestry to the H1 haplogroup. Though it is of western European origin, it also reaches significant levels outside Europe, from Morocco and Tunisia to Lebanon and east into Central Asia.

H1a
H1a originated during the Younger Dryas Cycle, a short cold snap between 12,900 and 11,500 years ago that interrupted the general warming trend at the end of the Ice Age. Forests in Scandinavia were replaced by tundra, and droughts occurred in the Near East. After this cooling cycle ended, a group carrying H1a rapidly expanded from southern Europe northward into Finland and eastern Europe. After reaching the Baltic Sea, individuals with H1a eventually moved farther east into the Finno-Ugric speaking populations who lived along the Volga River and in the Ural Mountains of Russia.




DNA Semantics and Statistical Summary:

Genetic make-up is the sum of the 23 chromosome sets that complete the DNA double helix (one side coming from the father, the other from the mother). Chromosomes are broken down into tiny segments called genes, the root word for terms such as genealogy. DNA researches refer to genes as snips or SNP's. Another key term used in DNA analysis is "Allele," which is an alternative form of a gene (a member of a pair) that is located at a specific position on a specific chromosome. Genotyping is not the same as gene mapping in that it does not look at the entirety of the genome with all of its thousands of SNP's. SNP's (short for single-nucleotide polymorphism (SNP, pronounced snip; plural snips) is a DNA sequence variation occurring when a single nucleotide — ATC or G — in the genome (or other shared sequence) differs between members of a biological species or paired chromosomes in a human. For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles. Almost all common SNPs have only two alleles. The genomic distribution of SNPs is not homogenous; SNPs usually occur in non-coding regions more frequently than in coding regions or, in general, where natural selection is acting and fixating the allele of the SNP that constitutes the most favorable genetic adaptation.
My Ancestry Report:
99.5% = European [broken down as 90.6% Northern European, 0.1% Eastern European*, 8.9% Undefined European]. The Eastern European ancestry is from an allele on my Dad's 10th chromosome side.
0.2% = Sub-Saharan African*. *100% of this African ancestry is found on alleles of my father's chromosome sides, broken down as 0.04% of the 3rd chromosome and 0.16% found on the 9th chromosome.
0.1% = Eastern Asian**. **100% of my Asian ancestry is derived from my mother's side of my 20th chromosome set.
0.2% = Unassigned origin***.
Total = 100%, ***My unassigned origin DNA could be anything. Another reason I would like to examen my parents', siblings' and cousins' DNA...please help me...it only costs you $99!


Final Thoughts:

I want to at first state again for the record that I have zero formal training on this subject. I think I studied DNA for exactly one week during my sophomore year in college (back in 1988). So if I have some of these terms wrong please forgive me and correct me (I would like to get it right eventually). With that said, I'm not exactly sure how to interpret the above report. This is my best shot at it. First, I am overwhelmingly a white, male of European descent. My genes with rare exception go back to that continent back for thousands of years. 99.5% or possibly even 99.7% of my ancestors came from either the British Isles, Scandinavia, France, Germany or the Netherlands. After that, there are two interesting (although not genetically very significant) departures. I definitely have some African blood on my father's side of the equation. Where and when did this happen? My father's known genealogy reads like a Whose Who in American History going back to mother England without exception. Well, there is one exception of which I am aware. My great great grandfather Crispin Mennell was born illegitimately and took his mother's maiden name (Mennil or Mennell) as his surname.  Speculation was that it was a man named Christopher Ander. Was this man black? Probably not. Crispin Mennell was born in Yorkshire, England in 1786. Though certainly there is a possibility of this happening in 18th-century England, the likelihood is very doubtful. Conclusion, it must have happened prior to recorded history. My father's family is noteworthy for its being dark complected and over the years there is the oft-repeated remark that this must be due to the "Black Irish" in the family. However, no family historian has ever even identified an Irish ancestor on that side of the family, let alone any "Black Irish." A quick, but non-definitive search of the term in the Internet reveals such statements as: "Black Irish is an ambiguous term sometimes used (outside Ireland) as a reference to a dark-haired phenotype appearing in people of Irish origin. Opinions vary in regard to what is perceived as the usual physical characteristics of the so-called Black Irish: e.g., dark hair, brown eyes and medium skin tone; or dark hair, blue or green eyes and fair skin tone. Unbeknownst to some who have used this term at one time or another, dark hair in people of Irish descent is common, although darker skin complexions appear less frequently." Then there is this: "Another theory of the origin of the term 'Black Irish' is that these people were descendants of Spanish traders who settled in Ireland and even descendants of the few Spanish sailors who were washed up on the west coast of Ireland after the disaster that was the 'Spanish Armada' of 1588. It is claimed that the Spanish married into Irish society and created a new class of Irish who were immediately recognisable by their dark hair and complexion. There is little evidence to support this theory and it is unlikely that any significant number of Spanish soldiers would have survived long in the war-torn place that was sixteenth century Ireland. It is striking though how this tale is very similar to the ancient Irish legend of the Milesians who settled in Ireland having travelled from Spain." I have nothing to add to this conversation, except to say that Dad's African ancestry now adds fuel to speculation as to the origins of his 'black' Irish ancestry. We will probably never know. As for Mom's Asian ancestry, I have only to say that the source is probably from well-known migrations of vast hoards of nomadic horsemen during the 13th-century associated with the infamous Genghis Kahn who were of Mongolian origin. Other than that, I cannot think of another possible explanation except that mother's family as often speculated that they had at least one Cherokee Indian relation in the Powell line of Tennessee during the 18th or 19th centuries. Native American genes are often coded and listed as Asian (due to scientific bias that supposes the only viable Ice Age bridge into the Americas would have been from Asia via the Bering Straight). If Mom's family ever succeeds at proving that our 'Granny' Powell was in fact Cherokee then we will know the origins of her Eastern Asian ancestry.


Plea for Family Members to Buy the $99 DNA Kit and Get Tested at 23andME:

Because of the nature of how genotyping is accomplished (see above), and only a small segment of DNA is analyzed the site is only useful as a tool if many relatives get the same testing done. In short, if I can convince my parents, siblings, aunts, uncles and first cousins to do this too, I can learn so much more about my DNA.

Interesting case in point. Unbeknownst to me, a distant cousin, Brent Burch has had his DNA tested by 23andMe. He is the great grandson on his mother's side of the family of my great, great grandparents, Joseph Henry and Florence Ridges Dean.

The 23andMe site allows us to share genotype information. From this comparison, I was able to discover that my Dad's African ancestry does not come from his grandmother's family lines (that eliminates 1/4th of possible sources). The reason I know this is that Brent's DNA match with mine (where we share 1/2 of our alleles) occurs on the 2nd, 3rd, 4th, 6th, and 20th chromosomes. My paternal African ancestry again occurs on the 3rd and 9th chromosomes. Please get tested! $99 is a bargain and then we can compare DNA information!

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