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- Grace DNA & Genetic Genealogy -
Last update: April 2010

[Member of ISOGG]

Introduction

Results For the GRACE Y-DNA Project

Summary

Some Definitions

Further Reading

You can compare your Y-DNA data with mine at:
Ysearch (UWF4Z), use my DNA worksheet or compare Y-marker frequencies

My current Haplogroup definition: R1b1b2a1a4* (shorthand R-L48)

My mtDNA:
HVS-1 sequence mutations from CRS defining Haplogroup
T1a - 16126C, 16163G, 16186T, 16189C, 16294T, 16519C
HVS-2 differences: 073
G, 152C, 183G, 195C, 263G, 309.1C, 315.1C
See also Mitosearch ref. 5M94F


Note: This webpage focuses on my reasons for doing the Y-DNA test to determine my ancestral origins. The majority of testing firms, ISOGG and online encyclopedias have excellent look-up webpages that explain the techniques, terminology and current nomenclature. However, bear in mind that 10-12 DYS markers will help estimate your haplogroup, and 20-25 markers for surname grouping (excluding abundant R1b1's like myself, where you will need more markers). A full 67-marker test is recommended.


INTRODUCTION

Some detail of the direct paternal line passing directly from father to son using the Y-chromosome (Y-STR) can be revealed for genealogical studies. As all males on the same family tree, bearing the same name and more distant paternity, share the same Y-chromosome, DNA is one way to show family connections over many hundreds of years - further back than historical records. Having R1b1, I have one of the most common haplotypes in Europe. Further SNP testing has refined this to revised 2010 subclade R1b1b2a1a4* (positive for L48). No further deep clade tests are currently available.

The basis for my project is to try to determine the genetic relationship, if any, between my GRACE family tree and any other GRACE family tree pre 1820, or any other family names. My personal interest is that the paper trail for my branch has not been found prior to 1836 (the marriage of my 3xGGF, born c1811). It is hoped that sufficient results will eventually be found to represent the main GRACE families, particularly those linked to ancient population centres of the name, such as Co. Kilkenny in Ireland and the Buckinghamshire area of England, and therefore confirm my GRACE surname origins, or confirm another family connection if my 3xGGF was an orphan, which is a possibility. So far other GRACE family names tested outside of my GRACE family are far-removed from my own. My haplotype, which was confirmed to be truly representative of my GRACE family tree in 2010, is closest to a type commonly referred to as Frisian, relating to the concentration of that haplotype in region of Frisia (the coastal islands of present-day Netherlands & Germany). This raises the interesting possibility my GRACE family may be immigrants within historical times.

View an animated history of human migration

R1b is considered to belong to the descendants of the first modern humans who entered Europe about 35,000-40,000 years ago (also referred to as the Aurignacian culture, which included the cave painters in today's France & Spain). They were the contemporaries of the European Neanderthals, a separate human species.

R1b is the most common Y haplogroup in Europe, with more than half of European men carrying it. Most of the present-day European males with the M343 marker also have the P25 and M269 markers, which together define the R1b1b2 subclade. This subgroup is believed by some to have existed before the last Ice Age. Archaeological evidence supports the view of the arrival of Aurignacian culture to Anatolia from Europe during the Upper Palaeolithic rather than from the Iranian plateau to the east. New age estimates suggest that R1b's parent, R1, is only about 18,500 years old.

Although the precise route of the M269 marker is not known, it is theorized to have originated in Central Asia/South Central Siberia. It could have entered prehistoric Europe from the area of Ukraine/Belarus or Central Asia (Kazakhstan) via the coasts of the Black Sea and the Baltic Sea. It is considered to have entered Europe sometime after the Last Glacial Maximum when the continent became increasingly uninhabitable. The genetic diversity narrowed as the population became limited to a few coastal refugia in Southern Europe. The present-day population of R1b in Western Europe are believed to be the descendants of a refugium in the Iberian Peninsula (Portugal and Spain). As conditions eased about 14,000 years ago, descendants of this group migrated and eventually recolonised all of Western Europe.

 

R1b1b2a1a (R-U106/R-S21.R/L44):

This subclade, to which I belong, appears to be in over 25% of R1b. This group has a maximum in Frisia. The U106 subclade may have originated towards the end of the last ice age, or perhaps more or less 7000 BC, possibly in the northern European mainland. A close match of the present-day distribution of the S21 marker and the territorial pattern of the Eastern Corded Ware cultures and the Single Grave cultures has been reported. Before the North Sea basin completely filled with water from glacial melting, Britain was attached by land to the Continent. I may be a descendant of the tribes who inhabited this area, now under water, sometimes referred to as "Doggerland".

RESULTS FOR THE GRACE Y-DNA PROJECT

Your DYS results can also be compared on to the publicly available Ysearch database.

Mutations are thought to occur (on average) once every 500 years, so theoretically an exact match could be traced back to within a time since surnames were established (C13th) assuming the paper trail exists and a genetic link is suspected (i.e. the same family name or a known "non-paternity event" (Non-Patrilineal Transmissions (King & Jobling 2009))). NPEs or NPTs, where calculated, are of the order of a few percent in modern times. Any greater difference is likely to indicate that a connection would be before the use of surnames, but would have regional significance. If there is any genetic link between 4 mutations and greater, then this is most likely to have been in excess of 2,000 years ago.

To find how my 3xGGF Jeremiah GRACE is related to any other family (if an orphan or immigrant), I will need to find a match to 4-5 generations, as defined on the chart above, i.e. using more than 40 markers, with associated regional and genealogical evidence, suggesting a connection within the last 200 years, possibly in the East Midlands & East Anglia region of England or a Frisian (Dutch or German) immigrant. I have 67 markers tested so far, with the best recorded match being 40 out of 44 markers for a non-GRACE surname, a provisional genetic distance (GD) of 4. In 2010, one of my most distant cousins (a third cousin or 3C) tested for 67 markers, and apart from 1 fast mutator (DYS576), confirmed the haplotype for our GRACE family tree. We can be sure we are descended from the same ancestor, the current known head of our family tree, and that there has been no NPT along our two lines. With this confirmed, the focus for the genetic history of our family can focus outside of the known tree.

Early statistic on DYS576, a fast mutator, 42% of R1bs have 18 tandem repeats. With my value at 17 (26%) and my 3C at 16 (6%), suggests the mutation that separates us most likely occurred along his line (although mutations can mutate up as well as down). This would only be revealed if more GRACE cousins were tested.

My GRACE Y-DNA Project, compared to the small sample of other GRACEs tested so far, finds no match. The nearest GRACEs on YSearch are a GD of 9 on 25 markers and 13 on 37 markers, both with connections to Ireland. Based on the lack of a genealogical trail that explains the origins of my 3xGGF Jeremiah GRACE (possibly an orphan born around 1811), I am looking for "the needle in a haystack" genetic connection to any other family.

Any GRACE family name DNA worldwide can be compared at the Worldwide GRACE DNA Study. All GRACE males interested are welcome to join.

SUMMARY

  • R1b1 Y-DNA is generally of no assistance to those wishing to find a genealogical connection, since a large proportion of the population with ancient European origins carries this haplotype. There are millions of individuals in thousands of families. Even people with the same surname cannot be linked using this alone, unless proven by a family tree, as they may have origins with non-relations in a particular location (e.g. HILL) or with a specific occupation (e.g. SMITH). It is very likely that similar family names were attained for different reasons in different places, and have since been standardised, and as result there will be no modern family connection, even among most GRACEs. However, we do have an ancient family connection, as genetics have already established that all humans are related and therefore we are all cousins. It is just a question of time.

  • Statistically, there is a web that connects not only people living on the planet today, but to everyone who ever lived. Calculations show that you would have to go back in time only 2,000 to 5,000 years to find somebody who could count every person alive today as a descendant. A little further back, about 5,000 to 7,000 years ago, everybody living today has exactly the same set of ancestors. In other words, every person who was alive at that time is either an ancestor to all 6 billion people living today, or their line died out and they have no remaining descendants. It is exponential growth combined with the facts of life. By the 15th century everyone has a million ancestors. By the C13th you've got a billion. Sometime around the 9th century, about 40 generations ago, the number tops a trillion. The individual from whom all modern human mtDNA is descended, would have lived 120,000 to 150,000 years ago.

  • DNA patterns found in people throughout the world have now identified lineages descended from 10 sons of a "genetic Adam" and 18 "daughters of a genetic Eve".

SOME DEFINITIONS


Most of us are not geneticists, so here is an attempt at a plain language guide to some of the terms used. Words defined elsewhere in the alphabetical list are given in italics:

  • Allele - any of two or more genes that have the same relative position on related chromosomes

  • Allele Value - The number of repeats of the short nucleotide sequence in the locus, obtained by adding a fixed offset to the score (see DYS charts)

  • AMH - a common haplotype known as 'Atlantic Modal Haplotype' found in surnames along the Atlantic coast in Europe. Defined as R1b, it is further defined by DYS 19, 388, 390, 391, 392 & 393 with repeats 14, 12,  24, 11, 13, & 13 respectively.

  • Chromosome - A group of several thousand genes. Humans are defined by 22 pairs of chromosomes plus X & Y. An  X chromosome pair defines a female, while an X & Y pair defines a male (23 pairs in all)

  • CRS - Cambridge Reference Series otherwise known as haplotype H for mtDNA (more recently refined to be H2b

  • DNA - Deoxyribonucleic Acid; the main constituent of chromosomes - the double helix containing the chemical code that defines who and what we are. The main four chemical bases that make up that code are Adenine, Thymine, Cytosine & Guanine (indicated by their first letter)

  • DYS (number) - DNA Y Chromosome unique Segment, also known as microsatellite loci (pronounced "lo-see" In Europe and "lo-si" in the US). The numbering scheme is controlled by the HUGO standards body. These loci are where the genotyping takes place, however caution is advised when comparing results between different labs as full international standards are yet to be established

  • Gene - A unit of heredity, capable of replication and mutation, occupying a fixed position on a chromosome, and passed on from parents to offspring during reproduction

  • Genetic Distance or GD - The difference in the number of mutations between individual samples

  • Haplogroup or Clade - A group of individuals sharing the same haplotype and therefore share a common ancestor. In the case of mtDNA they have motifs such as H, T, U, X, etc., which have been popularized through the use of virtual maternal clan names such as Helena, Tara, Ursula, Xenia, etc. Y-chromosome haplogroups have been given names relating to locations where they commonly occur, such as AMH.  8 Y-chromosome haplogroups in Europe are connected by a defined mutation event. These are defined by DYS & UME. A haplogroup is defined by "slowly" mutating loci (cf. haplotype), so matching or close matching haplotypes belonging to different haplogroups are not closely related genetically

  • Haplotype - The results of the Y-chromosome test that can be used for DNA matching. It can be a single or unique set of chromosomes. Haplotypes are described by the number of base repeats (A, C, T or G) at the microsatellite loci (DYS) and in general are defined by "rapidly" mutating loci (cf. haplogroup). The Extended European Haplotype is defined by loci DYS 19, 385 I/II, 389I, 389II, 390, 391, 392, 393, YCAII a/b

  • HUGO - Human Gene Nomenclature Committee; a standards body

  • HVS-1/HVR-1 - When geneticists test mtDNA, they look at an area where mutations are most likely to occur. Then they compare the result to a standard reference series (CRS) to see which bases are different. One common region to test is Hypervariable Segment 1 (HVS-1) also known as Hypervariable Region 1. HVR-1 starts at base 16,001 and looks at the next 400 or 500 bases. More detailed analysis includes HVS-2. People with an identical HVS-1 panel are currently thought to have a time to MRCA of about 52 generations (median value), whereas an additional match of the HVR-2 panel gives a median number of 28 generations. My direct maternal line only goes back to 1818 and 6 generations

  • Mitotype - Deviations or mutations found in mtDNA tested HVS-1 or HVS-2. Compared to the reference series (CRS) my results, as an example, showed the following mutations at bases on HVS-1: 16126C, 16163G, 16186T, 16189C, 16294T & 16519C & on HVS-2: 073G, 152C, 183G, 195C, 263G, 309.1C, 315.1C. This defines my mitotype. The base numbers are often shortened to 126, 163, etc. Larger groups of mitotypes are called haplogroups. mtDNA haplotypes are also referred to as mitotypes. I belong to haplogroup T1a (as defined by Pike), part of "clan Tara", a direct maternal ancestral origin estimated about 17,000 years BP in Tuscany. As T1 has recent origins, there has been relatively little time for mutations (est. 7000-8000 years BP) so a large number of matches will be found all over northern and southern Europe west of the Urals. It is estimated 1% of Europeans have the same, so millions of us have the same mtDNA roots. Frustratingly, most sites that further define T1 are located in mtDNA coding regions not part of commercial sequencing at this time. Currently it is considered that if you match mtDNA (both of HVS-1 & HVS-2), then common maternal-line ancestry probably goes back 350-1,250 years (50% probability of a common maternal ancestor in 14 generations). As of May 2009 I have 3 exact matches for my mtDNA based on HVS1+HVS2, all based in Germany. This suggest a distant common maternal ancestor from the area now known as Germany.

T1 mt-Haplogroup project

For those part of "clan Helena", my wife's mtDNA (Irish ancestry) is coded with only two mutations 16179T & 16304C (based on the first 400 bases). Helena is the most widespread, with origins about 20,000 years BP in the borders of present day Spain & France. 304C (along with 519C not tested for) defines H5a, with origins 7000-8000 years ago in Central Europe post-Ice Age recolonisation. Alternatively, she is in subclade H1, noting that the mutation at position 179 is rare, and probably happened first. 304 is much more mutable. You can check your mtDNA at Mitosearch
  • MLE - Most Likely Estimate when your MRCA appeared (using a 50% probability)

  • MRCA - Most Recent Common Ancestor (between two people)

  • mtDNA - Mitochondrial DNA. Found in all cells and passed on only by a mother to her offspring, i.e. preserved through the mother-daughter relationship only. As of May 1009 I have 2 exact matches for mtDNA, which provides a 50% probability that there is a common maternal ancestor within 14 generations

  • Mutation - It is estimated that a mutation occurs once every 500 generations per loci. (Assuming five generations per century, this would be a mutation every 10,000 years*). This gives geneticists a tool for estimating how far back a common ancestor may have been shared by two individuals. In the case of 12 loci being genotyped, then this would provide a probability of at least one mutation every 40 generations, or 800 years (using the same assumption above). Since a large proportion of the Eurasian population was wiped out in the C14th by the Black Death (up to a third in the period1348-50), then for those of European & Asian origins this should provide a good guide to any common ancestor that survived this pandemic. It was also a time when many modern family names were being established. It should also be noted that a particular mutation, which may define one branch of the family tree, can, in some cases, mutate back! [*some demographic experts suggest an average of 18 years per generation prior to the Industrial Revolution and 22 years per generation since]

  • Mutation Rates - Reference Y-STR(67) haplotype mutation rate (ystrHMR67) calculations:

    .002 x 67 DYS STR markers = .134 per birth of new generation. (1/.134)=7.5. A new mutation can happen at any time but a 67 marker haplotype using the .002 historical mutation rate indicates it can typically survive unchanged since the generation of the prior mutation event for a bit more than seven generations. Random matches will be minimal, if any. The resolving power of a 67 marker test places the most likely time to recent common ancestor definitely in a time frame of genealogical interest and a time frame when many male lines had already adopted their surnames and written birth records started to be maintained. If you share the same or similar surname and match closely with a 67 marker test you probably share a genealogically relevant most recent common male ancestor even if not known via the traditional evidence. A more recent study by FamilyTreeDNA indicates the average Y-STR marker mutation rate may be more like .004. .002 was based on fewer markers in earlier tests, therefore:

.004 x 37 DYS STR markers = .148 per birth of each new generation. (1/.148) = 6.8 generations from MRCA
.004 x 67 DYS STR markers = .268 per birth of each new generation. (1/.268) = 3.7 generations from MRCA

  • Score - The private code used by a lab. Add a fixed offset to the score to get the allele value (see DYS charts)

  • SNP - "snips"; Single Nucleotide Polymorphisms. The substitution of one DNA base for another. This are commonly tested for to further define subclades. The following results place me in the former R1b1ba1a* (revised FTDNA 2008 nomenclature). The * in 2008 denoted not a1 or a2 and untested for a3:

  • UEP - Unique Event Polymorphisms used by the YCC. Mutations which presumed have occurred only once in human history because the observed mutation rate is so very low

  • UME - Unique (or near-Unique) Mutation Event that can be used to further define a haplogroup. These are diallelic markers notated as SY81, SRY4064, YAP, SRY1532, SRY10831, M13, M9, TAT, M20, SRY+465, 92R7 & M17, as examples. The Basque population is a subclade defined by a mutation at SRY2627. These UMEs are included in the new Y-chromosome tests for genealogy and are part of the new YCC nomenclature. See also SNP.

  • YCC - Y-Chromosome Consortium introducing a new and standardised nomenclature for haplotypes.  http://ycc.biosci.arizona.edu/nomenclature_system/frontpage.html
    The nomenclature is based on results of UEPs, including SNPs and indels (insertions or deletions of DNA segments). Note: Genealogical testing is done on other kinds of mutations with a higher mutation rate, whereas population geneticists use the slower rates for the bigger picture.

Caution: It is important to note that this is a developing science and includes assumptions, estimates and statistical probabilities. Exact matches will show a clear, recent MRCA, while one or two differences will indicate common ancestry much further back in time.


FURTHER READING

National Geographic Genographic Project

http://www.ibdna.com/assets/YHaploGroups.pdf (for current definitions and origins)

http://www.dnaheritage.com/masterclass.asp

Glossaries: http://www.dnaheritage.com/glossary.asp

FAQs: http://www.ibdna.com/assets/AncestryFAQ.pdf & http://www.dnaheritage.com/faqs.asp

One Name DNA Y-chromosome projects

Genetics and Genealogy Y Polymorphism and mtDNA Analyses - an overview

Y-STR Database (European & Other Haplotypes)

FamilyTreeDNA (Name search facility)

RootsWeb: Browse the GENEALOGY-DNA archives

Home Page & Contact Info / Back to Gen Index Home Page

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