Showing posts with label mtDNA. Show all posts
Showing posts with label mtDNA. Show all posts

Thursday, April 18, 2013

Family Tree DNA's DNA Day Sale Starts Now!

***UPDATE - THIS SALE HAS BEEN EXTENDED THRU THURSDAY, APRIL 25th***

Just in from Family Tree DNA. (These are really great prices!)

FAMILY TREE DNA ANNOUNCES SPECIAL DNA DAY REDUCED PRICING
••••••••

LOW PRICES ON THESE AND MANY MORE:
Full Mitochondrial Sequence: $189
Family Finder:  $169
Y-DNA + Full Sequence: $358


We are pleased to announce our 2013 DNA DAY Promotion. While the special pricing features all the major tests, we’re placing particular emphasis on the Full Mitochondrial Sequence and Family Finder. We’ll offer Y-DNA upgrades during a Father’s Day sale and will give you those details
at that time. By carefully choosing the sale options and limiting the length of the sale, we will be better able to focus our resources on processing the tests efficiently and avoiding delays in delivering results.

We are proud to announce we have successfully moved our mtDNA Full Sequencing line from Sanger DNA sequencing to what is called Next Generation Sequencing (NGS). This gives us much greater capacity to process tests, to reduce costs without sacrificing quality, and to ensure shorter turnaround times. We must run the entire sequence every time we process an mtDNA full sequence test, even for upgrades. However, in recognition of your prior investment- and National DNA Day – we’re offering our lowest price ever for the FMS and upgrades. Rather than the 8-10 weeks first generation sequencing required, we expect results to be completed within 5-6 weeks. This does depend on the number of orders received though. If their DNA is already at our lab, those who order first may expect even shorter turnaround times. For a limited time we will be selling the FMS for $189 and whether you’ve tested HVR1 or HVR1+2, you’ll be able to upgrade to the Full Sequence for just $129!

In addition, we are also lowering the Family Finder to $169 for this sale! Here is the list of all tests under the promotion:

Full MtDNA Sequence…. $189
Upgrades to FMS….$129
Y-DNA37 (new and add-on)…. $119
Y-DNA67 (new and add-on)…. $199
Y-DNA37 + Full MtDNA Sequence…. $308
Y-DNA12 + FF…. $218
Y-DNA37 + FF…. $288
Y-DNA67 + FF…. $368
Family Finder.... $169
Family Finder + Full MtDNA Sequence…. $358
SuperDNA….$388 (Y-67 + FMS)
Comprehensive DNA…. $557 (Y-67 + FMS + FF)


The sale will begin tonight, April 18th, at 6PM CDT and will conclude at 11:59PM CDT on Monday April 22nd. All orders must be placed and paid for by the end of the sale to receive the promotional price. There will be no need for a coupon - all prices will be automatically adjusted on the website.  Order here.

THANK YOU FOR YOUR CONTINUED SUPPORT
Bennett Greenspan
President
Family Tree DNA

All orders must be placed and paid for by 11:59PM on Monday April 22nd, to receive the promotional rate. As with all promotions, orders need to be placed by the end of the sale and payment must be made by end of this sale.

Wednesday, December 12, 2012

My Geno 2.0 Results: Step-by-Step

As much fun as I have had posting and reading about other people's Geno 2.0 results in the last couple of weeks, I have to admit, there's nothing quite like getting my own (finally)!

OVER THIRTY-FIVE THOUSAND SOLD
According to the "infographic" below, I am one of 559,515 Genographic Project participants. (You can access this individualized image through the yellow "Share" button on the top right of the "Your Story" page.)


There were 524,384 participants from Geno 1.0, so judging from this, there are now 35,131 new Geno 2.0 participants. That is certainly a lot and we don't even know if that is the number of kits sold to date or just the number of results being returned now. This means at least 35,131 kits have sold since Geno 2.0's introduction in July of this year. (Pretty awesome!)

MY STORY




















MY MATERNAL LINE
My Geno 2.0 mitochondrial DNA haplogroup is U5b1b2 which is consistent with 23andMe's and mtDNA Community's label for me, while my full mitochondrial sequence at Family Tree DNA designates me as mtDNA Haplogroup U5b1.

If you click on the arrows on your map, you will be walked step by step through the migration pattern of your direct maternal line ancestors, ending with a heatmap of the frequency of your subclade (if available). Of course, being female, I don't have a Y-chromosome to explore, but as part of their results, males also receive their Y-DNA haplogroup subclade (terminal SNP), direct paternal line's migration route and heatmap.

















The next step that is recommended by National Geographic is to "Complete Your Profile" and "Contribute Your Story". These can be accessed through the Profile tab and the Our Story tab respectively, but for the first to be accessible, you need to opt into research participation under Profile > Account Settings. The default is "You are currently not participating", but if you check the box below and click on save...

 
...it changes to this:


Then, under Profile, go to "About Me", "About My Family" and "About My Ethnicity" and fill in the pertinent details.


Next, go to the Our Story tab at the top and you will see this:


If you scroll down below this, you will find this window, where you should enter information about your direct maternal ancestral line. This story should only include information on your mother's mother's mother's (etc...) line. Here's mine:


To see your story and the others that have been contributed, click on the "Read Stories" button on the opposite window under "Browse All Stories".


These are the other participants whose mtDNA haplogroup is U5b and have contributed their stories so far. There aren't very many people tested with mtDNA like mine yet as you can see from the "Universe" graphic above (the big blue circle with the red-orange center). The five dots are people whose mtDNA is most similar to mine.

Just for fun, here is peek at a few of the public Y-DNA stories. See anything interesting?



WHO AM I: AUTOSOMAL DNA AND ADMIXTURE
Next, let's take a look at my autosomal admixture results.


According to this, my admixture includes:
45% Northern European
35% Mediterranean
15% Southwest Asian
2% Northeast Asian

Which places me closest to...


Pretty cool since I am 25% Finnish, which as far as I know, is my biggest chunk of ancestry from any single area. My percentages don't match up exactly by any means. My Mediterranean component is significantly higher and my Northeast Asian component is lower than the typical Finn. The description for this latter component notes "... it is also found at a frequency of 5-10% in the Finns, likely introduced by the migrations of the Saami people from Siberia into Finland over the past 5,000 years." Since only one quarter of my ancestry comes from Finland, this discrepancy makes sense.

But, wait, hold on...


Iberian?! I don't have any known Iberian ancestry. Anyway, it doesn't look to me like I match it all that closely anyway.  (For details on how they reach these conclusions, read my earlier post.)

I'm not sure that this method of trying to match all of a person's ancestry to one population label works well for very admixed individuals like me. My individual components may appear to fit best with these two populations when taken as a whole, but this doesn't account for the mixed ancestry I have from multiple regions.

HOMINID DNA
This part of the test is definitely intriguing although I don't really know what to make of it.


The Neanderthal percentage is very close to my 23andMe Neanderthal result of 2.5%. The Denisovan seems on the higher end compared to other results I have seen, but investigating that will have to wait for another day.

EXPERT OPTIONS: TRANSFERRING AND DOWNLOADING
There seems to be much confusion regarding downloading the raw data file and transferring the results to Family Tree DNA, so I thought I would review the Expert Options section.

To transfer your results to Family Tree DNA, go to the Profile tab and then Expert Options:


Click on "Transfer to FTDNA":


Check the option for Geno 2.0 and enter your NatGeo Kit Number (found on your box and/or Profile> Account Settings> Geno 2.0 ID Code, where you have previously entered it to register). Then, check the box if you have a Family Tree DNA kit and enter your kit number and password as above. Click on "Next". On the next screen, you will be prompted to enter your address and it will look like you are going to be charged, but choose "Invoice" (instead of Credit Card) and keep going. Then, you will receive a screen to review that will show a cost of $0. Place the order and, if successful, you should get this:


and this:


 If you aren't sure if it worked, check your home page for this:


So far my account results don't show anything different, but I already have the mtDNA full sequence, so I'm not sure what would be imported anyway.  Many of the men importing their results are getting an extensive list of Y-SNPs on their Haplotree page like this:


Although importing Geno 2.0 results doesn't delete the results from the SNP testing that was previously performed at FTDNA, it will override what appears on the project pages.

Apparently, there is a delay for some accounts receiving the raw data download option and so far, mine hasn't appeared yet. When it does, it will be located under the "Expert Options" tab, just above the "Transfer Data to Family Tree DNA" option and look like this:


It is downloaded into a CSV file after clicking on the Download button.

I was hoping to be able to check my raw data file to see how my mtDNA heteroplasmy was reported, but apparently that will have to wait for another time. 

LOTS MORE TO COME...
Obviously, I don't have my own Y-DNA results to review, but I have been reading all of the reports from our citizen scientists who are already immersed in investigating those newly released results. I will be sure to report on their findings since this will, undoubtedly, be the area of the most groundbreaking discoveries.

In my next post, I will compare and review my admixture results from all four companies.

[Disclosure: I received a complimentary Geno 2.0 kit from National Geographic for review purposes. This has not affected my opinions or analysis.]

Wednesday, July 25, 2012

National Geographic and Family Tree DNA Announce Geno 2.0


Today we have some news that is incredibly exciting for our citizen scientists and for all those who are interested in determining their ancestral origins through DNA testing. 

National Geographic is entering the next phase of their Genographic Project in partnership with  Family Tree DNA and the genetic genealogy community. Continuing to move toward their goal of mapping the pattern of human genetics, they are introducing the new GenoChip 2.0. This chip is specifically designed for ancestry testing and includes SNPs from autosomal DNA, X-DNA, Y-DNA and mtDNA. The design of the new chip was a collaborative effort between Eran Elhaik of Johns Hopkins, Spencer Wells of National Geographic, Family Tree DNA and Illumina. The testing will be done at FTDNA in Houston.

Dr. Wells explained that "off-the-shelf chips are not good for studying ancestry" for the simple reason that they are skewed in favor of medically relevant SNPs and are not focused on detailed inclusion of the sex chromosomes and the mtDNA. As a result, this team started from scratch choosing SNPs for the Illumina iSelect HD chip platform one and a half years ago. The resulting chip includes approximately 146,000 SNPs, avoiding all known medically relevant markers and exclusively concentrating on ancestry informative ones. This new chip will be used for both the research and the public participation component of the project.

The new funding structure for the project will be announced in September.

[Caution ahead: Some of the following is quite advanced, so if you are new to genetic genealogy, please skip over the unfamiliar portions. I am including as much as I can from my notes for the more advanced in our community who may want specific details.]

BASICS
The Geno 2.0 test will be offered for $199.95 with free shipping within the US on the National Geographic site and will only require a cheek swab. All resulting data will be downloadable. They will begin accepting pre-orders today for a fall shipping date (10/30/12). In the future, orders will  also be accepted through the Family Tree DNA website (no date is set for this option). Although this is not a traditional relative finder matching tool and is not meant to replace Family Finder, it will cluster you to your closest genetic matches and you will be able to send an anonymous email to correspond with them (not functional at launch). These circle clusters will demonstrate how you connect to people one thousand years ago.


Y-DNA SNPs
The chip includes just over 12,000 Y-DNA SNPs. Ten thousand of these are completely unique and have “never been published before”.  First, the team created probes for all of the 862 Y-SNPs from the current YCC 2010 Tree. Next, they contacted research centers all over the world and asked them to provide a list of all the Y-SNPs that they had data mined or discovered, including the L SNPs, the Z SNPs and “private Hammer” SNPs, and created probes for those. Y-SNPs discovered by citizen scientists were also included.

More details:
- Many new terminal branches will be gained and, according to Bennett Greenspan, this will completely replace the deep clade test currently offered by Family Tree DNA.
- Y-SNPs were vetted against Family Tree DNA’s “Walk Through the Y” samples.
- 862 SNPS from YCC 2010 Tree vs. 6,153 SNPs on the New Tree
- About 200 SNPs from 2010 failed with ~160 SNPS from 2010 unconfirmed
- Most failures were at roots such as R, P, A2 and F. Many have synonymous SNPs.
- 115 SNPs from YCC 2010 Current R-Tree vs 550 SNPs on the New R-Tree with ~200 more potential
- 31 SNPs from 2010 failed with 25 more unconfirmed, but in progress
- Rebekah Canada wrote and/or performed comprehensive rewrites of 182 different Y-DNA stories based on  approximately 1000 peer reviewed publications and information from the genetic genealogy community.
- New, updated Y haplogroup maps



mtDNA SNPs
The chip also includes over 3200 unique mtDNA SNPs. They started by creating probes for the 3352 highest frequency mtDNA SNPs from Family Tree DNA and GenBank. According to Elliott Greenspan, the level of difficulty was greatly increased due to variability in mtDNA. It was necessary to create about 31,000 probes to cover all of the variation that can be found in the surrounding flanking regions. Ultimately, they were able to detect about 3200 of those and, as a result, they can determine about 90% of the known haplogroups at this point.  

More details:
- All SNPs were vetted by running known samples.
- Rebekah Canada wrote new and/or performed comprehensive rewrites of 248 different mtDNA stories based on ~1000 peer reviewed publications and information from the genetic genealogy community. 
- New, updated mtDNA haplogroup maps




Autosomal and X-chromosomal SNPs
 
Over 130,000 autosomal SNPs and X-DNA SNPs were chosen
- AIMs harvested from literature
- AIMs identified using two methods
- Contributed by Family Tree DNA
- Identified at Random
 
Ancestry Informative Markers (AIMs) are SNPs that show substantial differences in allele frequency across population groups. Approximately 75,000 AIMs were chosen from approximately 450 populations around the world. About half of these AIMs were collected from about two dozen published papers and the rest were calculated from private and public datasets. Many of these populations datasets had not previously been studied for this purpose, so they used two algorithms to develop new and never before used AIMs: infocalc by Rosenberg and a private algorithm developed by Dr. Elhaik called “AIMsFinder” (PCA approach). Dr. Elhaik personally collected over 300 population datasets from which they had genotype data from thirty thousand to over one million base pairs and did very exhaustive pairwise comparisons between difficult-to-distinguish populations to build a unique database of AIMs. 

They also wanted to address the question of how much interbreeding occurred between modern humans and ancient hominins. Once again, they collected all relevant SNPs from existing literature on the subject and included those on the chip. However, they wanted to go further so they used a novel approach. They identified regions in which modern humans and Neanderthal shared the derived allele where Denisovan and Chimp share the ancestral and then repeated the exercise for derived alleles in Denisovan, but not Neanderthal and Chimp. Ultimately, they collected about 30,000 such SNPs that they feel can help identify interbreeding between ancient hominins and modern humans.



The team also included SNPs from underrepresented populations such as Paleo-Eskimos and Aboriginal Australians. What they call “control SNPs” came from 7,500 random SNPs that have high frequency in the HapMap and 1000 Genome Project. They were included to facilitate future studies on these SNPs and how they distribute in different populations. They excluded a large number of SNPs that had high linkage disequilibrium (LD) in all populations, excluding those found in the Hunter Gatherer and Papuan populations because these are of special interest for future studies. (An interesting side note, when these high LD SNPs are removed from the commercial platform chips, only about half of the total remains.) The team only included SNPs that were confirmed by both HapMaps and 1000 Genomes to reduce the number of erroneous SNPs.

To ensure that the genetic results will not be used for unethical purposes such as political ends, pharmaceutical ventures, etc… all samples are anonymous, no medical or trait data is collected, and all SNPs are non-coding and have no known function. In order to facilitate this process, the team built a huge database that included all SNPs that were known, suspected or implied to have associations with disease or traits. To avoid imputation, they also removed high LD SNPs. They are confident that phenotype cannot be inferred.

More details:
- 23,962 Neanderthal SNPs
- 1,357 Denisovan SNPs
- 12,027 Aboriginal SNPs
- 10,159 Eskimo Saqqaq SNPs
- 998 Chimpanzee SNPs
- 975 X chromosome SNPs (the team is looking for more X chromosome AIMs from citizen scientists)
- 76% of SNPs overlap with Illumina 660k array
- 55% of SNPs overlap with Illumina HumanOmni1-Quad and Express and Affy 6.0
- 40% of SNP overlap with Affy 5.0 and Human Origins Chip
- GenoChip is enriched for Common Alleles
- Heat maps




Summary
All of this adds up to an unprecedented effort by National Geographic and Family Tree DNA to move genetic genealogy in an innovative new direction. This is a very exciting time for all of us citizen scientists since it appears that there is increasing opportunity to contribute to this advancing field and recognition for those who do.

This blog post is really just a start. There will be much more to report in the coming weeks, including a product review. So, be sure and check back!



[Update 12/13/12 - You can see my results here and others here and here.]

Saturday, July 14, 2012

Family Tree DNA Adds New RSRS Reporting for Mitochondrial DNA


STAYING AHEAD OF THE GAME

Family Tree DNA is staying on top of the latest advancements in genetic genealogy, adding a new way of reporting our mitochondrial DNA.
PAPER

In April of this year a paper by Doron Behar (et al) was published proposing a new method of reporting mtDNA. This method uses mutations referenced to a Reconstructed Sapiens Reference Sequence (RSRS) instead of the traditional revised Cambridge Reference Sequence (rCRS). In the author's own words:

In this study, we propose a “Copernican” reassessment of the human mtDNA phylogeny by switching to a Reconstructed Sapiens Reference Sequence (RSRS) as the phylogenetically valid reference point. We aim to trigger the radical but necessary change in the way mtDNA mutations are reported relative to their ancestral/derived status, thus establishing an intellectual cohesiveness with the current consensus of shared common ancestry of all contemporary human mitochondrial genomes.

 NEW RESULTS

In line with this proposal, FTDNA has added the new RSRS values in a tab next to the rCRS values that we are used to seeing.  Here is what it looks like in my account:

rCRS Values (old mutation list)

RSRS Values (new mutation list)

  
IMPROVEMENT OVER rCRS

This new method is an improvement over the old method (based on the 1981 sequence which is now being classified as belonging to the haplogroup H2a2a1), in part, because it uses the root of the tree as the base from which to count mutations rather than the differences from the random sample that has been used in the past. More from the authors:

Mutational events along the human mitochondrial DNA (mtDNA) phylogeny are traditionally identified relative to the revised Cambridge Reference Sequence (rCRS), a contemporary European sequence published in 1981. This historical choice is a continuous source of inconsistencies, misinterpretations and errors in medical, forensic and population genetic studies. Here, after having refined the human mtDNA phylogeny to an unprecedented level by adding information from 8,216 modern mitogenomes, we propose switching the reference to a Reconstructed Sapiens Reference Sequence (RSRS), which was identified by considering all available mitogenomes from Homo neanderthalensis. 

mtDNA Phylogeny - found under "Resources" tab

NEW SITE
 
With this change, FTDNA has also launched a new website:
mtDNACommunity.org is brought to you as a free public service, aiming to facilitate the further understanding of the human mtDNA phylogeny. 

New mtDNA Community Website

Its stated goal is:
This website is committed to the support of the "Copernican" reassessment of the human mtDNA phylogeny and to the establishment of computational tools meant to facilitate phylogenetic analysis and comparison of complete mtDNA sequences. 

It appears that Dr. Behar will be actively involved in the site:

TOOLS TO EASE THE TRANSITION

There are two new tools to help us ease into the transition:
To facilitate data transition from an rCRS to an RSRS based nomenclature we release the tool "FASTmtDNA". Additionally, the tool "mtDNAble" automatically labels haplogroups, performs a phylogeny based quality check and identifies private substitutions. These noted features are fully supported in this website or as standalone versions, which can be freely downloaded from the website including their manual and example files.

MORE DETAILED HAPLOGROUP

On FTDNA's website, I am still listed as haplogroup U5b1, but on mtDNA Community, my full U5b1b2 Haplogroup is reported. That is the same haplogroup reported by 23andMe for me and my matrilineal relatives, so it is nice to see it confirmed here.

More detailed haplogroup

 OUR CITIZEN SCIENTISTS

It is exciting to see that the contributions of genetic genealogists and "citizen scientists" Rebekah Canada and William R. Hurst were acknowledged in this paper and, as we in the genetic genealogy community know, this is well deserved. However, Ian Logan's earlier paper with similar ideas published in 2007 by the Journal of Genetic Genealogy was also deserving of acknowledgement and, perhaps, mistakenly, overlooked.

 MATCHES

Matches can be accessed under the "Community" heading on the new site. I uploaded my results, but I don't have any matches there, so hurry up and add your full sequence so mine isn't so lonely!

**Update - Ann Turner shared the following information in a comment below. I thought it was important enough to add it to the body of this post:
mtDNACommunity is indeed restricted to full mitochondrial sequences. I agree that upgrading would not be informative in terms of finding matches, but you would learn a more detailed haplogroup assignment if that is of interest to you.
All who have tested at 23andMe: you can learn your differences from the RSRS by going to Ancestry Labs / Haplogroup Tree Mutation Mapper. 23andMe doesn't test every position, but all the positions listed will be differences from "mtEve." I did a quick check, and it looks like 73 and 16311 would be the only positions missing along the route between the RSRS and the CRS.
Thanks Ann!
And Bill Hurst (the same William R above) posted on the ISOGG list this new info: FTDNA has listed your "NCBI Number" or GenBank accession number beside your haplogroup designation on your personal page. For me it wasn't there because I submitted to GenBank through Ian Logan, but for anyone who submitted through FTDNA, you should be able to see it. Thanks, Bill!

This is as new to me as it is to the rest of you, so we will learn together as we go. Rebekah Canada has kindly posting an extremely informative "tutorial" on the ISOGG Facebook page, so follow along to learn more.**

Monday, May 21, 2012

"Finding Your Roots with Henry Louis Gates, Jr." - DNA in the Tenth Episode


Last night, the final episode of Finding Your Roots with Henry Louis Gates, Jr. featured Michelle Rodriguez, Adrian Grenier and Linda Chavez. Although the three guests share Spanish Colonial ancestors, Dr. Gates noted that it is interesting that these celebrities who have such similar family trees each have a different view of their own identities: self-identifying as mixed-European, Native American and Hispanic. I was pleased to see that Dr. Gates "turned to two of America's top genetic research firms, Family Tree DNA and 23andMe" to assist in exploring their multiracial ancestries.

Exploring multiracial ancestries on "Finding Your Roots"

In the DNA portion's introductory voiceover (starting at 44:50), Dr. Gates explains, "DNA Analysis can tell us many things about our families, from where our earliest ancestors originated tens of thousands of years ago, to their ethnic and geographical distributions over the last five hundred years." In the first part of this statement, he is referring to the deep ancestry revealed through our Y-chromosome DNA and mitochodrial DNA haplogroups and, in the latter, to our admixture results like 23andMe's Ancestry Painting and FTDNA's Population Finder. In this episode, Dr. Gate's team utilizes both to find and confirm evidence of  the guests' ancestry.

Linda Chavez' Population Finder chart from FTDNA

For Linda, who considers herself a mix of European, there was a very interesting surprise. DNA admixture results support suggestions from early paper records and memories of symbolic traditions that Linda's family from New Mexico were likely part of the Crypto-Jewish community. Her Population Finder pie chart from Family Tree DNA reveals that she possesses 73.31% European, 5.82% Native American and 20.87% Middle Eastern ancestry.  Dr. Gates explained to her, "According to our researchers - the geneticists - your Middle Eastern result is strongly suggestive of Semitic or Jewish ancestry." Linda was surprised at just how much Jewish ancestry she appears to have. Prior to this type of DNA testing, she would have never known how significant this part of her ancestry really is.

New Mexico's Crypto-Jewish roots

Adrian had grown up strongly identifying with Native American culture, but the genealogy research of Dr. Gates' team had raised some questions about his claim of significant Native American ancestry. Adrian's eyes lit up with pride when his direct maternal line's Native American descent was confirmed by his mitochondrial haplogroup C12b. (A person can discover his or her mtDNA haplogroup by taking either a 23andMe test or Family Tree DNA's mtDNAPlus test.) 

Adrian beamed with pride when learning about his Native mtDNA

Dr. Gates explained that "C1b2 is recognized as one of the four haplogroups found among Native Americans." I think he is referring to mtDNA haplogroups A, B, C and D, but this statement is a bit of an oversimplification, especially since sub-haplogroups of X have also been found exclusively in Native Americans. The 2008 academic article The Phylogeny of the Four Pan-American MtDNA Haplogroups states:

As for mitochondrial DNA (mtDNA), it has been clear, since the early nineties, that mtDNAs of Native Americans could be traced back to four major haplogroups of Asian origin shared by North, Central and South American populations [3][7]. These were initially named A, B, C and D, and are now termed A2, B2, C1 and D1 [8]. Afterwards, a fifth haplogroup – now known as X2a – was described in Native Americans, but in contrast to the four “pan-American” haplogroups, its geographic distribution is restricted to some Amerindian populations of northern North America [8][12]. Later, two more haplogroups – D2a and D3 – were identified: D2a in the Aleuts and Eskimos [13], [14] and D3 only in the Eskimos [15], [16]. Most recently there were two further (uncommon) additions – D4h3 and C4c [14], [17] – bringing the total number of Native American haplogroups to nine.

Adrian looking at the frequency map of his C1b2 mtDNA

Dr. Gates stated that Adrian's admixture percentage for Native American was not "especially large", however from working with many people who have oral traditions of Native American ancestry, I felt that his 8.44% Native American was relatively significant, as Dr. Gates said "the equivalent of one great grandparent". (A great grandparent would be expected to contribute an average of about 12.5% of your DNA.)

Adrian's admixture results reveal 8.44% Native American

The fact that his results revealed 91.56% European DNA appears to support Dr. Gates' contention that the majority of the ancestral mixing between Natives and Spaniards took place early in Colonial times and was short lived. However, we must not forget that Adrian's father, John Dunbar, is primarily of Northern European ancestry, so his mother most likely has significant Native American ancestry, probably about 17%. (The admixture test used is 23andMe's Ancestry Painting or Family Tree DNA's Population Finder which is included with their Family Finder product.)

Next, Michelle Rodriguez was "appalled" to discover that she is primarily European - 72.4%.

Michelle learning that she is genetically primarily European

Her admixture results also revealed what seemed to be a more welcome surprise - 21.3% African.

Michelle's admixture result reveal substantial African ancestry

She was very disappointed to learn that she only possesses 6.3% Native American exclaiming, "I wanted to be Native American!" From my experience, she joins many Americans in this often repeated desire. As Adrian expressed at the end of the episode, DNA testing can be a life-altering experience, sometimes leading one to reinterpret their self-identity. He said that it would definitely change how he sees himself and how he represents his ancestry to others in the future.

Sadly, this brings us to the end of Dr. Gates' miniseries. I have been disheartened that both of the genealogy series aired their last episode this weekend, so I was extremely pleased to hear Lisa Louise Cooke's Genealogy Gems interview with Dr. Gates (33:00) where he discusses the fact that his team is already in pre-production for the next season of this series. Please hurry up, Dr. Gates, I can hardly wait!


Let's not forget that we all have the continuing opportunity to discover more about ourselves through genetic genealogy. I encourage you to start or continue this fascinating journey. Now that the show is over, I will have a chance to write more about my own DNA research. I hope you will keep reading.


I have been writing a review of the DNA testing used in each episode:
Week 1- Episode 1 & Episode 2 - Harry Connick Jr. & Branford Marsalis; Cory A. Booker & John Lewis
Week 2- Episode 3 - Barbara Walters & Geoffrey Canada

Week 3- Episode 4 - Kevin Bacon & Kyra Sedgwick
Week 4- Episode 5 -  Rick Warren, Angela Buchdahl & Yasir Qadhi
Week 5- Episode 6 - Robert Downey, Jr. & Maggie Gyllenhaal 
Week 6 - Episode 7 - Condoleezza Rice, Samuel L. Jackson & Ruth Simmons 
Week 7 - Episode 8 - Martha Stewart, Margaret Cho & Dr. Sanjay Gupta 
Week 8 - Episode 9 - Wanda Sykes, John Legend & Margarett Cooper

Monday, May 14, 2012

"Finding Your Roots with Henry Louis Gates, Jr." - DNA in the Ninth Episode


The ninth episode of Finding Your Roots with Henry Louis Gates, Jr. featuring comedian Wanda Sykes, musician John Legend and 98-year old Margarett Cooper aired last night. Unfortunately, this was the shortest DNA segment of any episode so far (starting at 48:30), clocking just under two minutes. I have to admit that even without much genetic genealogy, I really enjoyed the thorough research tracing all three of these African Americans' family trees to their free ancestors of color. That was some outstanding genealogy work!

Although the genetic genealogy that was discussed in the episode was squeezed into a very small segment, I thought the explanations offered were very clear, so I will quote some of Dr. Gates' words here. In order to trace some of the guests' African ancestry back to its origin in Africa, the show used the company African Ancestry again. African Ancestry performs only Y-DNA and mitochondrial DNA (mtDNA) tests, so keep in mind that they are only examining the direct paternal and/or direct maternal ancestral lines.

The paths of Y-DNA (in black) and mtDNA (in red) in our family trees

Dr. Gates explains, "Fathers pass on exact copies of their Y-DNA to each of their sons and mothers pass on replicas of their mitochondrial DNA to all of their children." This means that the Y-DNA follows only the direct male line because fathers pass their Y-chromosome only to their sons. Conversely, mtDNA follows only the direct maternal line because only women pass their mitochondrial DNA on to their children. For example, if you are a female and have a brother, you share the same mtDNA that was inherited from your mother, but only you will pass it to your children, while your brother's children will receive their mother's mtDNA instead of his. (One caveat to Dr. Gates' statement is that both Y-DNA and mtDNA occasionally mutate, so they are not always "exact copies".)

Dr. Gates goes on to say, "So, if an African American shares either of these DNA segments with a member of a present day ethnic group in Africa, then it is likely that they share a common ancestor." It is on this basis that African Ancestry reaches their conclusions. (I commented on this idea further in an earlier episode.) In order to be able to do this, African Ancestry has compiled a database of samples collected from "the ethnic groups in West and Central Africa that were most heavily raided during the slave trade."

Map of the regions sampled for African Ancestry's DNA database

Each of Dr. Gates' guests were tested to determine to which tribe this small portion of their DNA most closely matches. Being male, John Legend was fortunate to be able to trace both his Y-DNA and his mtDNA. His mtDNA was most similar to the Mende people in Sierra Leone and his Y-DNA was most similar to the Fula people in Guinea-Bissau. As Dr. Gates states, this "suggests" that these specific branches of his family tree lead to these areas.

John Legend's mtDNA traces to the Mende People

John Legend's Y-DNA traces to the Fula tribe.

The women only had the opportunity to trace their mitochondrial DNA since they do not have Y-chromosomes. Wanda didn't seem to have received a very specific result. The show stated that her mtDNA matched several groups, including the Tikar and Fulani (appears to be the same as the Fula) people of Cameroon. Incidentally, without seeing her family tree, this demonstrates to us that her white ancestor Elizabeth Banks who mothered Wanda's line of free ancestors of color was not her direct maternal ancestor (mother's mother's mother, etc....). If she had been, Wanda would have likely possessed European mtDNA.

Wanda Sykes's mtDNA traces to the Tikar and Fulani people

As a side note, I thought it was a lot of fun watching the lovely Margarett fulfill one of her stated life goals by learning more about her ancestors before she dies. Her welcome inclusion in the show supports the idea that watching non-celebrities unravel the secrets of their family trees can be just as compelling (sometimes more so) than the stream of celebrities being offered these opportunities.

Margarett right after learning the origins of her mtDNA

Margarett was extremely pleased to discover that her maternal roots traced back to the Temne people of Sierra Leone. (I strongly suggest following the links to read about all of these interesting African groups.)

Margarett's mtDNA traces to the Temne Tribe of Sierra Leone

Let's not forget that in focusing exclusively on the Y-DNA and mtDNA, large portions of the guests' genetic heritage was ignored. My wishlist for this episode would have, of course, included the popular pie-charts with the ancestral origin percentages (admixture) for each of the guests. It would have been interesting to see how much European DNA each of these guests possess, as well as if there is potential for Native American ancestors in their family trees. Usually Dr. Gates uses 23andMe's Ancestry Painting for this, although he sometimes also uses Family Tree DNA's Population Finder as well. At the top of the list would have been an autosomal DNA test performed on John Legend's delightful fourth cousin John Hale to determine if they share any detectable DNA segments inherited from their mutual third great grandfather, the legendary Peyton Polly and his unknown wife. A test such as 23andMe or Family Tree DNA's Family Finder have about a 50% chance of detecting shared DNA between fourth cousins. As I have said before, the use of genetic genealogy in exploring these types of questions is my favorite application of the science. Autosomal DNA testing works best for examining a theory that two people are related to each other in relatively recent times. A negative result does not disprove the connection at this level of relatedness, but a positive one can strongly support it. Unfortunately, while Dr. Gates' team likely performed many of the DNA tests on my list, there wasn't time to show all of the results.

Sadly, next week is the last episode of the series, so I hope it is chock full of genetic genealogy! I don't know where all of us will go to get our television genealogy fix since "Who Do You Think You Are?" is also ending next week (apparently for good). I sure hope that Dr. Gates hurries up and produces another one of his great family history series!

For the last episode, Dr. Gates and his team will be exploring the multiracial ancestry of Michelle Rodriguez, Adrian Grenier and Linda Chavez. See you then!



I have been writing a review of the DNA testing used in each episode:
Week 1- Episode 1 & Episode 2 - Harry Connick Jr. & Branford Marsalis; Cory A. Booker & John Lewis
Week 2- Episode 3 - Barbara Walters & Geoffrey Canada

Week 3- Episode 4 - Kevin Bacon & Kyra Sedgwick
Week 4- Episode 5 -  Rick Warren, Angela Buchdahl & Yasir Qadhi
Week 5- Episode 6 - Robert Downey, Jr. & Maggie Gyllenhaal 
Week 6 - Episode 7 - Condoleezza Rice, Samuel L. Jackson and Ruth Simmons 
Week 7 - Episode 8 - Martha Stewart, Margaret Cho and Dr. Sanjay Gupta