Epigenetics – Forgotten Perhaps, But Not Gone

Posted on September 8, 2013 by Roberta Estes

Recently, an extremely interesting article about epigenetics appeared in Discover magazine titled “Grandma’s Experiences Leave a Mark on Your Genes.” The tag line says that your ancestors’ lousy childhood or excellent adventures might change your personality, bequeathing anxiety or resilience by altering the epigenetic expression of genes in the brain. Wow!

Those of us who work with genetics on a daily basis are used to looking at inheritance, pure and simple, DNA, STRs, SNPs, RNA and mitochondrial DNA. Nothing more, nothing less. All straightforward, right?

Epigenetics changes all that….or so we think…but how?

In 1992, two researchers, Moshe Szyf and Michael Meaney, one a molecular biologist and one a neurobiologist met at a conference, had a beer, and from there, epigenetic history has been made.

Epigenetics has to do with changes to molecular structure after the birth of a child – changes that can alter the function of DNA, which can alter you – many parts of you. It can make you susceptible to diseases and alter your personality, genetically. This is in direct conflict with what we thought we knew.

Until epigenetics, the basic story line on how genes get transcribed in a cell was neat and simple. DNA is the master code, residing inside the nucleus of every cell; RNA transcribes the code to build whatever proteins the cell needs. Then epigenetic research showed that methyl groups could attach to cytosine, one of the chemical bases in DNA and RNA, much like a clinging vine. Cytosine is one of the 4 nucleotides of DNA, the most basic building blocks.

The methyl groups could become married permanently to the DNA, getting replicated right along with the DNA through a hundred generations, but how?

The attachment of the methyl groups significantly altered the behavior of whichever gene they wed, inhibiting its transcription. It did so by tightening the thread of DNA as it wrapped around a molecular spool, called a histone, inside the nucleus. The tighter it is wrapped, the harder to produce proteins from the gene.

Think about what this means. Without a mutation to the DNA code itself, the attached methyl groups cause long-term, inherited change in gene function. Other molecules, called acetyl groups, were found to play the opposite role, unwinding DNA around the histone spool, and so making it easier for RNA to transcribe a given gene.

It was found that this is particularly pronounced in the situation where mothers are either highly attentive or neglectful of their offspring.

Next came experiments on rats. Szyf and Meaney began by selecting mother rats who were either highly attentive or highly inattentive. Once a pup had grown up into adulthood, the team examined its hippocampus, a brain region essential for regulating the stress response. In the pups of inattentive mothers, they found that genes regulating the production of glucocorticoid receptors, which regulate sensitivity to stress hormones, were highly methylated; in the pups of conscientious moms, the genes for the glucocorticoid receptors were rarely methylated.

Methylation just gums up the works. So the less the better when it comes to transcribing the affected gene. In this case, methylation associated with miserable mothering prevented the normal number of glucocorticoid receptors from being transcribed in the baby’s hippocampus. And so for want of sufficient glucocorticoid receptors, the rats grew up to be nervous wrecks.

Even more surprising, in subsequent experiments, when they infused their brains with trichostatin A, a drug that can remove methyl groups, these animals showed none of the behavioral deficits usually seen in such offspring, and their brains showed none of the epigenetic changes. In effect, an eraser.

This information not only was revolutionary, it was highly resisted within the scientific community. In the end, their landmark paper, “Epigenetic programming by maternal behavior,” was published in June 2004 in the journal Nature Neuroscience.

Meaney and Szyf had proved something incredible. Call it postnatal inheritance. With no changes to their genetic code, the baby rats nonetheless gained genetic attachments due solely to their upbringing — epigenetic additions of methyl groups sticking like umbrellas out the elevator doors of their histones, gumming up the works and altering the function of the brain. Bad news.

Another scientist found that inattentive mothering in rodents causes methylation of the genes for estrogen receptors in the brain. When those babies grow up, the resulting decrease of estrogen receptors makes them less attentive to their babies. Generational neglect.

Think about what this means for people, for you, for your ancestors. Think about the potential effects of extreme stress, like the holocaust, for example, on the children born to those who survived.

Since the landmark, barrier-breaking 2004 paper, more than 2 dozen papers on this topic have been published. And as you might guess, research on humans has begun as well.

In a 2008 paper, scientists compared the brains of people who had committed suicide with the brains of people who had died suddenly of factors other than suicide. They found excess methylation of genes in the suicide brains’ hippocampus, a region critical to memory acquisition and stress response. If the suicide victims had been abused as children, they found, their brains were more methylated.

What constitutes stress? It turns out that economic stress factors can affect epigenetics too. In 2011 Szyf reported on a genome-wide analysis of blood samples taken from 40 men who participated in a British study of people born in England in 1958.

All the men had been at a socioeconomic extreme, either very rich or very poor, at some point in their lives ranging from early childhood to mid-adulthood. In all, Szyf analyzed the methylation state of about 20,000 genes. Of these, 6,176 genes varied significantly based on poverty or wealth. Most striking, however, was the finding that genes were more than twice as likely to show methylation changes based on family income during early childhood versus economic status as adults.

Timing, in other words, matters. Your parents winning the lottery or going bankrupt when you’re 2 years old will likely affect the epigenome of your brain, and your resulting emotional tendencies, far more strongly than whatever fortune finds you in middle age.

The message here is that epigenetic changes seem to be more pronounced in the very young, infants of nonnurturing mothers, and children, as opposed to older adults.

Epigenetic changes seem to be inherited by children. If this is true, then how does this happen and is it measureable? In terms of genetic genealogy, these epigenetic changes might be able to be attributed to a particular ancestor, say, a Revolutionary War or Civil War solder, perhaps.

Would there be any way to tell where the epigenetic change came from, which ancestor? Is this trackable genealogically, and would it be beneficial to ancestor identification?

And if it’s true that certain drugs, an epigenetic elixir of sorts, can remove methyl groups and effectively wipe the slate clean, would we want to do that? Would it in effect erase the family curse of, say, serial alcoholism or mental illness. Are there benefits that we aren’t aware of or could too much be wiped out? How would that affect memories, like Post Traumatic Stress Disorder? Would a terrible memory be turned into something less terrible or at least manageable? Would our perspective of what happened to us change? Would our outlook on life change? Would we become an optimist if we are a pessimist? Could it cure depression?

This information also makes me wonder why we aren’t all blithering piles of goo? None of us has escaped a lineage with a terrible event. In my own line, I have an alcoholic grandfather, a grandmother who abandoned her kids, a Civil War veteran who was a POW, a War of 1812 veteran, a Revolutionary War veteran who was with George Washington that terrible winter, and that’s just one quick glance up one line on my tree. What protects us from the accumulated epigenetic tangle? Something must be at play here, protecting us in some way, because we can still function.

Let’s look at the other side of that coin. Until we figure out how to cure epigenetic trauma and its effects on our DNA, could we harvest the information from this new world of clinging vine DNA for genetic genealogy?

Please do take time to read the original Discovery article. I have excerpted parts of it here, but it’s very detailed and describes the discovery process and subsequent proofs in much greater detail. Epigenetics is likely the next frontier in genetics, and it has already arrived. I have to wonder if it has a place in genetic genealogy as well.

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Mexican Women’s Mitochondrial DNA Primarily Native American

Posted on August 30, 2013 by Roberta Estes

Mitatwe’eptes (aka Amy Tilden) – Nez Perce – circa 1910

In the paper, “Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins,” Kumar et al provide a piece of information I find extremely interesting.

“For mtDNA variation, some studies have measured Native American, European and African contributions to Mexican and Mexican American populations, revealing 85 to 90% of mtDNA lineages are of Native American origin, with the remainder having European (5-7%) or African ancestry (3-5%). Thus the observed frequency of Native American mtDNA in Mexican/Mexican Americans is higher than was expected on the basis of autosomal estimates of Native American admixture for these populations i.e. ~ 30-46%. The difference is indicative of directional mating involving preferentially immigrant men and Native American women. This type of genetic asymmetry has been observed in other populations, including Brazilian individuals of African ancestry, as the analysis of sex specific and autosomal markers has revealed evidence for substantial European admixture that was mediated mostly through men. In our 384 completely sequenced Mexican American mitochondrial genomes, 12 (3.1%) are of African ancestry belonging to haplogroups L0a1a’3’, L2a1, L3b, L3d and U6a7; 52 (13.6%) belong to European haplogroups HV, JT, U1, U4, U5; and K and the majority (320, 83.3%) are of Native American ancestry.”

If you have Mexican ancestry or your direct matrilineal line, meaning your mother’s mother’s mother’s line, on up the direct maternal line, please test your mitochondrial DNA, here, and join the American Indian project at Family Tree DNA.

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You Might Be A Pict If….

Posted on August 24, 2013 by Roberta Estes

…if what Dr. Jim Wilson, announced via press release instead of the more standard academic publication, is true.

“A Young Daughter of the Picts” attributed to Jacques le Moyne de Morgues, circa 1585.

Dr. Wilson indicates that he, in conjunction with Scotland’s DNA, an ancestry testing company that he is affiliated with, a new SNP, S530 has been discovered and it is a Pict marker. He says that this marker is evidence that the Picts are living among us today and can be identified genetically. As proof, he offers that 10% of the 1000 Scottish men tested carry this marker, while it is found in only .8% of English men and about 3% of the men in Northern Ireland. Dr. Wilson indicates that this marker is 10 times more prevalent in men with Scottish grandfathers than men with English grandfathers. You can read the articles in “The Scotsman” and “The Telegraph and the press release by Scotland’s DNA here.”

The Picts were Scotland’s earliest known people. It’s unknown what the Picts called themselves, but the Roman’s gave them the name Picts, meaning “painted ones.” They were Celts, but their early history in the British Isles is unclear. By the time they entered recorded history, they were in Scotland, north of the Forth and Clyde, beyond the stronghold of the Roman empire with whom they fought bitterly on their borders. Their kingdoms in about 800 and 900 CE are shown on the map below.

Eventually, in about the 1100s, and rather gradually, the Picts disappeared from the records as a separate people, having assimilated as fully Gaelic Scots, their Pictish heritage forgotten, into the mainstream of the British Isles, along with other Celts, Angles, Saxons and Vikings.

Dr. Wilson says that S530, the newly discovered Pictish marker parallels the Pictish locations, in Fife, Perthshire, Tayside and the Northeast and around Moray Firth coastlands.

Normally, this kind of an announcement would be met with an extremely positive reaction in the genetic genealogy community, but in this case, not so much. It seems that Dr. Wilson along with Britain’s DNA and Scotland’s DNA have been involved in some less than reputable actions recently, and one has to wonder if this is legitimate.

By legitimate, I mean whether, if provided with the same data and opportunities, another independent academic researcher could reproduce the same results and if unbiased, would come to the same conclusions. This, of course, is part of the purpose of peer review during the academic publication process. This isn’t the first time this has happened, either. For more information about these companies, their issues, their scientific announcements via the media and resulting scuttlebutt, check the following links.

http://dna-explained.com/2012/12/20/britains-dna-caveat-emptor/

http://www.genomesunzipped.org/2012/12/exaggerations-and-errors-in-the-promotion-of-genetic-ancestry-testing.php

Be sure to read the comments by Debbie Kennett on the link above, and the article below, on Debbie’s blog.

http://cruwys.blogspot.com/2013/06/britainsdna-times-and-prince-william.html

I checked the Scotland’s DNA website, and fully expected to find a new “Pict” test, but it’s not there yet. Unless I’m terribly off the mark, I’m betting it will be soon, which might have something to do with circumventing the academic publication process, aside from the minor details of peer review and accuracy. Academic publication takes about 18 months to write the paper and shepherd it through the peer review process. Not trivial, and there is no “big splash” so to speak about an academic paper appearing in a little known scientific journal. Much bigger splash this way and one can offer a product immediately, no waiting. The problem is that science isn’t a “trust me” type of field and this type of science-in-the-media announcement with no documentation flies against all of the safeguards built into the scientific publication process.

So, you just might be a Pict if Jim Wilson is correct and you carry S530….but until an academic paper is published, there is no way to know for sure unless of course, you’re into “trust me.”

However, if you’re dying to know, and can’t wait, I have a hint for you, this SNP was discovered earlier this year, at Family Tree DNA. It’s also called SNP L1335, and is equivalent to S530. Kind of sheds a different light on the big announcement doesn’t it. If you need to know, and you’re a haplogroup R1b male, just order this SNP for $39 from Family Tree DNA and you’ll know if you carry this marker, or not. However, until Dr. Wilson publishes a paper and makes his data available for review, you won’t know if you are a Pict or just another L1335 Scottish male.

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Acadian Maryland Historical Marker Unveiling

Posted on August 21, 2013 by Roberta Estes

Acadians, as we know, are a French-Canadian people who settled at Port Royal, Nova Scotia, in 1605 (replica above) and intermarried with the Native people, primarily Mi’kmaq. They were expelled from Canada by the British in 1755 and set adrift, winding up literally dispersed to the winds, landing in various places in the US, Europe and in the Caribbean, before they congregated in Louisiana and became known as Cajuns.

A group of about 900 of these displaced people, now refugees with nothing to their name, arrived in Maryland, a Catholic colony, and spent several years living there, many trying to make their way back to Canada. With the end of the war in 1763, these Acadians desperately wanted to settle among their own people. Some did return to Canada, but the rest found their way to Louisiana, the last group leaving in 1769.

Marie Rundquist, an Acadian descendant and founder of the Amerindian – Ancestry Out of Acadia DNA project, lobbied for 2 years for a sign commemorating this forgotten episode in Acadian and Maryland history.

Marie says, “One of my personal goals is to assign dignity to the heritage that I have learned is truly mine. To have a sign like this brings an Acadian history into the mainstream, and recognizes a people whose ancestry has not always been held in the highest esteem, and whose integral role in early American history has been largely dismissed by traditional scholars.

That the DNA of Native Americans of Canada rolled into Louisiana, and other parts of the United States, by way of this diaspora is at the heart of the Amerindian Ancestry out of Acadia project. The British didn’t pick and choose among whom they would toss into the Ocean…all went; it mattered not if your family had been in the area 150 years or 18,000!”

On July 28^th, 2013, on the day of the Acadian Memorial and Remembrance, when Acadians around the world recall the expulsion of 11,000+ Acadians from Nova Scotia in 1755, Marie celebrated by unveiling the sign in Princess Anne, Maryland. Way to go Marie!!!

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British Royal DNA

Posted on August 17, 2013 by Roberta Estes

In an article recently published, Bradley Larkin has done an excellent job of sorting through the various DNA results from different companies and locations and assembling them together for a paper on British Royal DNA titled Y-DNA of the British Monarchy, A Review on the occasion of the birth of the Prince of Cambridge.

Paper Abstract

A review was made of existing genetic genealogy findings that infer characteristics of the Y-DNA of members of the British Monarchy. Nine sustained Y-DNA lineages since the year 927 CE were noted as dynastic groups. Haplogroup and haplotype characteristics of three of the dynasties were presented with two more dynasties noted as testable but unpublished. Cultural and geographical origins of these dynasties were considered as context for their DNA haplogroups. Specimen candidates for further testing were identified noting that some will require Ancient DNA (aDNA) recovery and analysis.

Brad covers 8 major dynasties dating from 1603-2013, the Mountbatten, Hanover, Windsor and Stuart.

After discussing each dynasty, Brad ends his article with a summary table of the dynasties, monarchs from that dynasty, the Patriarch, origin and known DNA. It’s a great paper and an interesting read. Take a look. Who knows, this just might be relevant to you! Good job Brad!!!

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Black, White or Red – Changing Colors

Posted on August 11, 2013 by Roberta Estes

The Root recently published the article, “Did My White Ancestor Become Black?”, written by Henry Louis Gates Jr. and Eileen Pironti. We all know who Henry is from his PBS Series, Finding Your Roots.

America is the great mixing bowl of the world, with Native American, European and African people living in very close proximity for the past 400 years. Needless to say, on the subject of admixture and race, things are not always what they seem.

Henry Gates sums it up quite well in his article, regardless of what your ancestor looked like, or your family looks like today, “the only way to ascertain the ethnic mixture of your own ancestry is to take an admixture test from Family Tree DNA, 23andMe or Ancestry.com.”

Interestingly enough, in an earlier issue of The Root, Henry talks about how black are Black Americans.

In that article, Henry provides this information.

* According to Ancestry.com, the average African American is 65 percent sub-Saharan African, 29 percent European and 2 percent Native American.

* According to 23andme.com, the average African American is 75 percent sub-Saharan African, 22 percent European and only 0.6 percent Native American.

* According to Family Tree DNA.com, the average African American is 72.95 percent sub-Saharan African, 22.83 percent European and 1.7 percent Native American.

* According to National Geographic’s Genographic Project, the average African American is 80 percent sub-Saharan African, 19 percent European and 1 percent Native American.

The message is, of course, that you never know. Jack Goins, Hawkins County, Tennessee archivist, is the perfect example. Jack is the patriarch of Melungeon research. His Goins family was Melungeon, from Hawkins County, Tennessee. Jack founded the Melungeon DNA projects several years ago which resulted in a paper, co-authored by Jack (along with me, Janet Lewis Crain and Penny Ferguson), cited by Henry Louis Gates in his above article along with an associated NPR interview, titled “Melungeons, A Multiethnic Population.”

Jack, shown above with the photo of his Melungeon ancestors, looks white today. His family claimed both Portuguese and Indian heritage. His ancestors and family members in the 1840s were prosecuted for voting, given that they were “people of color.”

But Jack’s Y DNA, providing us with his paternal link to his Goins male lineage, is African. No one was more shocked at this information than Jack. Jack’s autosomal DNA testing confirms his African heritage, along with lots of European and a smidgen of Native in some tests.

When in doubt, test your DNA and that of selected relatives to document your various lines, creating your own DNA pedigree chart. For a broad spectrum picture of your DNA and ethnicity across of all of your heritage, autosomal DNA testing is the way to go. Without all of these tools, neither Jack nor Henry would ever have known their own personal truth.

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Gene By Gene Acquires Arpeggi

Posted on August 7, 2013 by Roberta Estes

Gene by Gene Acquires Arpeggi, a StartUp Health- and GE-Backed Company, to Build World’s Leading Genetic Testing and Genome Diagnostics Company

— Merger will make DNA testing more accessible and affordable for consumers, researchers and healthcare providers —

HOUSTON–Aug. 7, 2013 Gene by Gene, Ltd., the world’s first company to develop consumer DNA testing products for ancestry and genealogy applications, announced today the acquisition of Arpeggi, Inc., a StartUp Health- and GE-backed company that develops solutions for genome sequencing, data management and computational analysis.

The combined company will enable the acceleration of an innovative suite of more affordable genetics testing and diagnostics services available to consumers, researchers and healthcare providers.

“The acquisition of Arpeggi’s technology and world-class team of data and technology experts will enable us to accelerate Gene by Gene’s plan to make next-generation DNA sequencing and clinical genomics accessible and affordable to all,” said Max Blankfeld, Managing Partner of Gene by Gene. “We are on a mission to transform healthcare by dramatically speeding up the process, and reducing the costs, of genetic tests, which today are often far too expensive for the average consumer.”

Founded in 2012, Arpeggi develops solutions for genome sequencing, data management and computational analysis. In April, the company released GCAT Genome Comparison and Analytic Testing, a free community driven platform for evaluating the performance of next-generation sequencing (NGS) data analysis methods. The platform has gained tremendous traction and was recently showcased at BioIT World and the Clinical Genome Conference. Arpeggi has developed proprietary sequencing tools, designed for scale, that enable accurate, fast, and cost-effective analysis of genomes. This year, Arpeggi was selected as one of 14 startups, out of 400 applicants, to join the StartUp Health and GE Entrepreneurship Program to help grow, commercialize and scale new innovative healthcare technologies.

“We are thrilled by the acquisition of Arpeggi and excited to continue to help Gene by Gene on its mission to lead the rapidly advancing genetics testing and sequencing market,” said Unity Stoakes, cofounder and President of StartUp Health. “This acquisition represents a significant combination of technologies, expertise and infrastructure that we believe will make an important impact on the future of the genomics sector and how many people have access to these innovations.”

Rafael Torres, Senior Managing Director, GE Ventures- Healthcare said, “The deluge of data generated from genomic testing and the ability to store, analyze and interpret it efficiently has been a bottleneck for organizations focused on large scale sequencing. Arpeggi’s solution provides an infrastructure that helps human genomic and bioinformatics companies get the most out of their data. We’re proud to have Arpeggi involved with our Entrepreneurship Program with StartUp Health and cannot wait to see them further advance DNA testing through the marriage of science and technology.”

The entire Arpeggi team and technology platform will be incorporated into Gene by Gene. Additionally, Arpeggi’s founders will join Gene by Gene’s management team, effective immediately. Arpeggi’s Nir Leibovich was named Gene by Gene’s Chief Business Officer, Jason Wang was named Chief Technology Officer and David Mittelman, Ph.D was named Chief Scientific Officer.

Gene by Gene’s Doron Behar, M.D., Ph.D. was also named Chief Medical Officer. Gene by Gene’s Blankfeld and Bennett Greenspan continue to serve as the company’s Managing Partners.

Financial terms of the transaction were not disclosed.

About Gene by Gene Ltd.

Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

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Media Contacts:

For Gene By Gene, Ltd. and Arpeggi, Inc.:

Kate Croft

Casteel Schoenborn

croft@csirfirm.com

888-609-8351

For StartUp Health:

Unity Stoakes

President

StartUp Health

unity@startuphealth.com

646-416-4121

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Autosomal DNA, Ancient Ancestors, Ethnicity and the Dandelion

Posted on August 5, 2013 by Roberta Estes

Understanding our own ancient DNA is a little different than contemporary DNA that we use for genealogy, but it’s a continuum between the two with a very long umbilical cord between them, then, and now. And just when you think you’re about to understand autosomal DNA transmission and how it works, the subject of ancient DNA comes up. This is particularly perplexing when all you wanted in the first place was a simple answer to the question, “who am I and who were my ancestors?” Well, as you’re probably figured out by now, there is no simple answer.

Inheritance

In a nutshell – we know that every generation gets divided by 50% when we’re talking about autosomal DNA transmission.

So you inherit 50% of the DNA of each of your parents. They inherited 50% of the DNA of each of their parents, so you inherit ABOUT 25% of the DNA of each of your grandparents.

Did you see that word, about? It’s important, because while you do inherit exactly 50% of the DNA of each parent, you don’t inherit exactly 25% of the DNA of each grandparent. You can inherit a little less or a little more from either grandparent as your parents 50% that you’re going to receive is in the mixer.

This is also true for the 12.5% of each of your great-grandparents, and the 6.25% of each of your great-great-grandparents, and so forth, on up the line.

The chart below shows the percentages that you share from each generation.

Relationship to You	Approximate % Of Their DNA You Share
Parents	Exactly 50%
Grandparents	25
Great-grandparents	12.5
Great-great-grandparents	6.25
Great-great-great-grandparents	3.125
Great-great-great-great-grandparents	1.5625

Ethnicity

So, here’s the question posed by people trying to understand their ethnicity.

If I have 3% Melanesian (or Middle Eastern, Indo-Tibetan or fill-in-the-blank ethnicity), doesn’t that mean that one of my great-great-great-grandparents was Melanesian?

There are really two answers to this question. (I can hear you groaning!!!)

If the amount is 25% (for example) and not very small amounts, then the answer would be yes, that is very likely what this is telling you. Or maybe it’s telling you that you have two different great-grandparents who have 12.5 each – but those relatives are fairly close in time due to the amount of DNA that came from that region. See, that was easy.

However, the answer changes when we’re down in the very small percentages, below 5%, often in the 1 and 2% range. This answer isn’t nearly as straightforward.

The Dandelion – Your Ancestor

The answer is the dandelion.

The dandelion is one of your ancestors who lived in the Middle East, let’s say, 20,000 years ago, maybe 30,000 years ago. In case you’re counting generations, that is 800 to 1200 generations ago. The percentage of DNA you would carry from a single ancestor who lived 20,000 years ago, assuming you only descended from that ancestor 1 time, is infinitesimally small. There are more zeroes following that decimal point than I have patience to type. Let’s call that ancestor Xenia and let’s say she is a female.

However, you did inherit DNA from many of your ancestors who lived 20,000 years ago, thousands of them, because all of them, through their descendants, make up the DNA you carry today. So infinitesimally small or not, you do carry some of the DNA of some of those ancestors. It’s just broken into extremely small pieces today and their individual contributions to you may be extremely small. You don’t carry any DNA from some of them, actually, probably most of them, due to the recombination event, dividing their DNA in half, happening 800 times, give or take.

Now, given that your ancestors’ DNA is divided in every generation by approximately half, and we know there are about 3 billion base pairs on all of your chromosomes combined, this means that by generation 32 or 33, on average, you carry 1 segment from this ancestor. By generation 45, you carry, on average, .00017 segments of this ancestor’s DNA. And for those math aficionados among us, this is the mathematical notation for how much of our ancestor’s DNA we carry after 800 generations: 4.4991E-232.

But, we also know that this dividing in half, on the average, doesn’t always work exactly that way in reality, because some of those ancestors from 20,000 years ago did in fact pass their DNA to you, despite the infinitesimal odds against that happening. Some of their DNA was passed intact generation after generation, to you, and you carry it today. The DNA contributed by any one ancestor from 800 generations ago is probably limited to one or two locations, or bases, but still, it’s there, and it’s the combined DNA of those ancient ancestors that make us who we are today.

The autosomal DNA of any specific ancestor from long ago is probably too small and fragmented to recognize as “theirs” and attribute to them. Of course, the beauty of Y DNA and mitochondrial is that it is passed in tact for all of those generations. But for autosomal DNA and genealogy, we need hundreds of thousands of DNA pieces in a row from a particular ancestor to be recognizable as “theirs.” When we measure DNA for genealogy, what we are measuring is both centiMorgans, a measure of distance between chromosome positions (length) and the number of contiguous SNP (Single Nucleotide Polymorphism) base locations that match (quantity). The values from these calculations tells us how closely we are related to people, because remember, DNA is divided in each generation so there is a mathematically predictable amount we will share with specific relatives.

Here is an example from a Family Finder comparison table showing both centiMorgans and matching SNPs with a second cousin.

The matching threshold for genealogical significance is either 5 or 7 cM depending on which of the major companies you are using. At Family Tree DNA, if you match above the threshold, then you can view down to 1cM, which is the case above. Another match criteria is the number of SNPs, or locations, matching contiguously. Anything below about 500-800 is considered to be a population match, not a genealogical match, unless you also have a significant number of genealogical matches at higher cMs and segments with this person.

OK, where is all of this going?

Dispersion

Think of your ancestor 20,000 years ago as the dandelion. Now, blow.

Xenia lived in the Middle East. Where might her descendants land, over time, with every new generation? In Europe? In Asia? In India? In America via the Native Americans through Asia? In North Africa? Where?

So let’s say that groups of descendants settle across the globe. Let’s say that her mitochondrial haplogroup is X. Yes, haplogroup X is found both in Europe and in Asia and in the Native Americans, so this is actually a good example. So Xenia carried mitochondrial haplogroup X and we know for sure via mitochondrial DNA testing that indeed, Xenia’s seeds were scattered to all of the winds. The only place we haven’t found Xenia’s children is in Subsaharan Africa and the Australian archipelago, at least not yet.

Ok, so now that we know where her children and their children went, let’s go back to ancient DNA.

Predictive DNA

The way ethnicity is determined is by studying the frequency with which a specific allele or group of alleles is found in any particular population. Two “pure” examples come to mind.

The first example is the Duffy Null allele that is only found in the Subsaharan African populations. Currently this marker is found in about 68% of American blacks and in 88-100% of African blacks. If you have the Duffy Null allele, you have African heritage. Of course, you don’t know which line or which ancestor it came from, or how far back in time, but it assures you that you do in fact have African heritage. It could have been from an ancestor long ago. It could have been very recent. This is one of the factors considered when determining percentage of ethnicity.

A second example is the STR marker known as D9S919 which is present in about 30% of the Native American people. The value of 9 at this marker is not known to be present in any other ethnic group, so this mutation occurred after the Native people migrated across Beringia into the Americas, but long enough ago to be present in many descendants. There is also no other known marker that is only found only among Native Americans, although I expect as we move into full genome sequencing we will discover more. You can test this marker individually at Family Tree DNA, which is the only lab that offers this test. If you have the value of 9 at this marker, it confirms Native heritage, but if you don’t carry 9, it does NOT disprove Native heritage. After all, many Native people don’t carry it. Again, you don’t know how long ago this marker was introduced into your ancestry.

These two examples are very unique because the markers are found only in certain groups. Generally, with the rest of the DNA values, they are found in different amounts, or frequencies, in different parts of the world and ethnic groups.

So, if you’re trying to determine the ethnicity of an individual, you’re going to compile a huge data base of percentages of DNA values found of Ancestrally Informative Markers (AIMs) in different parts of the world.

So, you would compare the participant’s values against your data base and you will come up with those regions or ethnicities that are present most often in your comparison. This is exactly what the products and services that provide you with your ethnicity percentages do – and how accurate the results are depend highly on the data base itself, the amount of data, and the quality of data. Dare I mention Ancestry’s issue that they’ve had since they first began offering their autosomal product over a year ago where everyone seems to have Scandinavian ancestry? Ancestry doesn’t share with us their sources, so as a community we have no idea how they have come up with these numbers.

You can easily compare your autosomal results in nauseating detail at both 23andMe and Family Tree DNA by testing with both companies, or by testing with either 23andMe or Ancestry and transferring your autosomal results to Family Tree DNA. All 3 of these companies will give you a somewhat different result, but they should be in the same ballpark. You can also then download your raw data file from any of those vendors and upload it to www.gedmatch.com where you can then do ethnicity comparisons using a variety of tools. These tools, an example shown below, will have much more variance and detail than the vendor’s tools or results. And because of that, they tend to be more confusing as well.

Many people with small amounts of minority admixture are disappointed with the results through the vendors, especially if their Native American admixture doesn’t show. I wrote extensively about this in my series, The Autosomal Me, so I won’t rehash it here, but using the GedMatch tools is very enlightening, as you can see above with my results. And do I really have Indo-Tibetan and Indo-Iranian ancestors?

Where’s Xenia?

Back to Xenia and her descendants. Let’s say that Xenia’s descendants settled in four primary locations. One is in the Middle East – they never left home. One is in Asia and from there, to the Americans to become the Native Americans and lastly, to Europe. Now let’s say there is a pocket of them in the Altai region of Asia and a pocket in France. The Altai is the ancestral home of the Native Americans and could explain the Indo-Tibet result, above. We’ll call that Central Asia. And France is where my Acadian ancestors were from. Hmmm….this is getting confusing. To make matters even more confusing, I might well descend from both groups, who originally descended from Xenia.

Let’s say that I do in fact carry small segments of Xenia’s DNA. Now let’s say that this same DNA is found in a group of people in Central Asia, maybe in Tibet, it’s published in an obscure journal someplace, and it finds its way into a data base. Voila – there you go – I now have a match in Central Asia in a place called Indo-Tibet. But do I really?

Does this mean that my ancestor was from Central Asia? Not necessarily. And if so, maybe not recently, but the people from that location for some reason share some of the DNA that I carry. The question of course is why, how and when?

What this really means to you is a matter of degrees. If you have a few matches from obscure regions, along with very small percentages, it is likely a result of the dandelion’s dispersion. If you have a lot of matches, meaning a high percentage hit rate, from a particular region, pay attention, it probably has some genealogical significance.

It’s no wonder people are confused by this! Now, just think how many dandelions you have. In 15 generations, you have 32,768 ancestors. In fact, this is how we know for sure that we all descend from the same ancestor multiple times. Our number of ancestors quickly exceeds the world population. In 30 (25 years) generations, in about the year 1263, we reach about 1 billion ancestors. In 1750, there were 791 million people on Earth, in 1600, 580 million, in 1500, 458 million and in 1000, 310 million.

We know that we very likely descend several times from a much smaller group of ancestors from isolated local populations. However, just looking at the 32,000+ ancestors in 15 generations, it’s still an entire dandelion field!!!

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Kitty Cooper’s Chromsome Mapping Tool Released

Posted on August 3, 2013 by Roberta Estes

I haven’t had time to try this yet, but I can hardly wait. Kitty Cooper’s chromosome mapping tool enables those who have taken one of the autosomal tests from Family Tree DNA or 23andMe and downloaded matches to map the segments that you know are associated with certain ancestral lines on your chromosomes with a color key.

The genetic genealogy community has been anxiously waiting for this tool. You can find it here: http://kittymunson.com/dna/ChromosomeMapper.php

Until now, we were relegated to keeping this kind of information on a spreadsheet. I covered how to do this in my blog on Autosomal Triangulation and also in one of the Autosomal Me segments.

But thanks to Kitty, we can take the information above and make it look like the example below from Kitty’s blog.

We can’t think you enough Kitty!!! Way to go! Woohoo!

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Sunday Stories

Posted on July 31, 2013 by Roberta Estes

This topic isn’t exclusively about DNA – but then sometimes it’s all about DNA and the discoveries I’ve made in my family using genetic genealogy.

By the time genetic genealogy came along, I had spent 25 years, a quarter of a century, working on my genealogy. There was no low-hanging fruit left – just the tough stuff – those brick walls and dead ends. A few fell pretty quickly with DNA, but now, every new piece of genealogy information is like a gold nugget.

This brings me to the topic of Sunday stories.

Every Sunday I write something to my family. Let’s put this in perspective. What would you give to have a journal from your great-great-grandmother? A letter she wrote once a week?

My cousin gave me part of a letter (page 3 of 4 is missing) written by my great-grandmother, Eva Miller Ferverda, to someone about what was going on in her life at that moment. I cherish that letter and the oh-so-brief glimpse into her personality, writing style and what she thought – as told by her, in her own voice and handwriting that was silenced before I was born.

She lived from 1857 to 1939 – so if she had written Sunday stories, they would have covered what was going on that affected her life from about 1870 or 1880 through 1939 – a span of more than half a century. Think of all the things she could have discussed and how well we would still know her today.

She could have talked about the Spanish American War which took place in 1898 and in which her son fought, in spite of the fact that the family was of the Brethren faith. That must have caused her a great amount of consternation on several levels. It seems that topic would have been good for several Sunday stories, all by itself.

She could have talked about getting electricity in her home. She could have talked about the fact that her son’s house (my grandfather) had indoor plumbing, at least in the bathroom. In the kitchen, we still pumped water in the 1960s.

She could have talked about riding in a car for the first time, as an adult.

She could have talked about the 1933 Chicago World’s Fair.

She could have talked about moving to town from the farm.

She could have talked about WWI and the effect on both her family and the Brethren Church.

And she could have talked about what her family and church groups were doing.

But she didn’t. She wrote a letter than someone gave back to the family. We have pages 1, 2 and 4 from her – and other than a poem she wrote or more likely, copied, and gave to her husband for his 46th birthday, that’s it. That is all of her voice that is left, and we consider ourselves lucky to have that much. I know very little about her as a person, aside from those oh-so-dry birth, marriage and death dates.

Mickey

A few years ago, I attended the Caruso Leadership Institute. Joe Caruso hosted this seminar in Hawaii, at Kapalua Bay, an experience unlike any other, and Joe’s father, Mickey, came along. By the way, if you ever have the opportunity to hear Joe speak, by all means, do.

Mickey was a very nice older gentleman, and he was everyone’s father or grandfather. Born in Italy in a different time, he had all kinds of little anecdotes and tidbits of wisdom. He made us laugh and cry and we all loved him.

Somewhere in one of our conversations, Mickey told us about what he did every Sunday. He wrote a letter to his children. He wrote one original, and then on Monday, he went to the copy store and made enough copies to send to all of his children who were scattered to the winds, across the US. I asked him what was in the letters, and he said whatever he wanted to write about. I asked him what was in the last one he wrote, and he said he told his kids about the “old country,” which was Italy, and what life was like there. He said that he knew that if he didn’t tell them, whether they wanted to know or not at the time, that the knowledge would be lost. He said that sometimes he wrote about current events, sometimes about what was going on within the family, and sometimes, just shared his thoughts. At the time, I thought about how wonderful that was, but I thought about it as an adult child, not as the parent. I thought about how wonderful it would be to receive those letters, and as a grandchild someday, how I would love to receive that box of letters, and how much they would be cherished eventually by descendants a hundred or two hundred years hence.

Someone asked Mickey if he thought his kids actually read the letters. Mickey’s eyes lit up, and he got this mischievous twinkle in his eye, and he said, “I know they don’t, but someday they will.” He winked at us, and the topic was changed. We all knew what he meant.

That was in 1997 or 1998.

A couple of years later, I attended another Caruso event, this time in the midwest, and Joe told us that his father had passed away. That was a very sad say for us, as we all loved Mickey.

There were several of us at that event that has been to the Hawaii seminar. At one of the meals, we talked with Joe about Mickey, and someone mentioned the Sunday stories. I don’t remember if that was his name for them, or mine, truthfully. In any event, someone, maybe Joe’s brother, said “You wouldn’t believe what happened.”

It seems that after Mickey died, those letters somehow became valuable commodities to his children. Some of them had been unopened during Mickey’s lifetime. Can you imagine? But after Mickey’s death, his kids wanted Mickey to speak with them one more time, and what better way than the letters he wrote to them. But somehow, some of those letters shoved into drawers got lost. So the kids set up a “swap” – “I’ll trade you an August 7, 1993 for a September 3, 1996.”

Now, they wanted to read those letters, to cherish every single word. Now that Mickey couldn’t talk to them, they desperately sought his voice.

But there was a problem. There were a few letters that no one seemed to have a copy of. They were entirely lost to posterity. Do you think we should have told them that Mickey kept the original copy of all of the letters? The funny thing was that many of us knew that, and not a soul said a word. We figured that one day, they would stumble across the treasure chest that we knew awaited them someplace. Mickey’s ultimate poetic justice:)

It was a few years later, after my own grandchildren were born, and after my Mother’s passing, that I decided that yes, Sunday Stories were a wonderful opportunity. I began to view them from Mickey’s perspective, as the author, instead of being the recipient. I knew that the torch had somehow been passed to me even though I wasn’t ready for it and surely didn’t want it.

I also realized, from Mickey, that indeed, the stories wouldn’t be read consistently. I know that to be true, because the “prize” of $100 to the first person to come forth with one particular Sunday story has remained unclaimed. I intentionally don’t ask questions that would “reveal” whether or not my children have read them. My goal isn’t to embarrass the kids. I don’t want them to dread receiving them because they have to read them because they know a quiz is in the offing. I know that if they don’t read them today….eventually, they will. Sometimes when I write the stories, it is with “someday” in mind.

What I have to say really isn’t so important that it needs to be read immediately. These stories are probably more valuable to future generations. It’s important that the stories be passed on. And yes, there are many DNA stories – stories about family discoveries, stories about haplogroup discoveries that I’ve been involved with, stories about the National Geographic team, stories about the DNA conferences, and more. DNA discoveries, the leading edge of this wonderful new scientific field is a part of my life and because of that, it’s also part of the Sunday stories in various ways.

Cat Got Your Tongue???

How are you passing on your important stories to your as yet unborn descendants and relatives? How will they know you? What is your voice to the future? How will they know what important family information you’ve found? And yes, what about documenting your DNA journey? If you think finding out about your ancestor getting electricity or maybe their role in the Civil War is exciting, just think about the journey of DNA discovery. Don’t let your family miss it! You too are a pioneer.

Don’t know what to talk about? It doesn’t matter, just talk and be yourself.

Here’s a small example of my recent rants, err, I mean topics…

Spring Now and 20 Years Ago – The Blizzard of 1993 (I was trapped in Mt. Airy, NC)
Easter and USA Today (family member in the paper)
A Sea of Red For Equality (DOMA and Facebook)
The Bombing of the Boston Marathon and the Week of Terror
Mischief – Saying Goodbye (to the family cat)
Near Death Experiences
Mother’s Day 2013 (mostly pictures)
Dad, Beginning and End (my father’s delayed birth certificate and a photo of his tombstone)
John Y. Estes, Confederate Civil War Soldier (new genealogy discovery)
PreSchool Graduations and other Happenings
I Hope You Dance – June 2013 (dance recitals)
Still Missing Dads (Father’s Day memorial to my father and step-father)
Elizabeth and the Bowling Family of Charnock Richard, Lancashire

There are a few differences between what I’m doing and what Mickey did. I’m distributing all of my stories electronically as PDF files which is so much easier. Size then becomes entirely irrelevant and photos are easy to include. People like pictures and my stories are photo-rich.

And yes, of course, I keep an “original.” I print these once a year too and I keep a book of each year – 52 stories. So that is the functional equivalent of Mickey’s original. This is my 5^th year, so at the end of 2013 there will be approximately 260 stories. That number sounds overwhelming, but believe me, one at a time, it’s fun and rewarding and helps you organize your own records and thoughts.

Hey, this article, slightly adapted, could be my next week’s Sunday Story!!!

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