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Mountains will be in labor, and an absurd mouse will be born, meaning all that work and nothing to show for it.

In a previous post we drew attention to an online article "Melungeons, A multiethnic Population,"published by the International Society for Genetic Genealogy in Journal of Genetic Genetic Genealogy, its authors Roberta J. Estes, Jack H. Goins, Penny Ferguson and Janet Lewis Crain.

The article is a bit forbidding at some 100 pages and it fairly bristles with self-importance and DNA, so we will attempt to summarize it.

Here are some highlights from the summary in the article itself, with our comments in italics:

Summary

Many sources exist where the Melungeons identify themselves variously as Indians and Portuguese.  Only one family, the Goins, are identified orally as having negro heritage.  Given the physically dark appearance of the Melungeons, they have unquestionable heritage other than European.

This seems to be an unsurprising conclusion, until you realize that after limiting their sights to Melungeons who called themselves Portuguese, preferably only those in the 37869 zip code, and Goins who already identified themselves as having Sub-Saharan African (please, not the n-word in 2012, or at least capitalize it), the authors are going to draw a further veil on proceedings and deepen the mystery. Read on.

Every Melungeon core family is indentified in multiple records as being "of color".


We won't comment on the equivocation going on here. Please read on.

DNA evidence identifies several lines conclusively as having African roots, specifically, Bunch, Collins, Goins (3 separate lines), Minor and possibly Nichols.  Gibson has one line who has tested and shows haplogroup E1b1a, but they also match another Louisa County affiliated family, Donathan.

 

Of these families, the Collins family has four different haplogroups within the same family group, a situation not unexpected based on the commentary by Will Allen Dromgoole wherein she states that of the Collins that while "they all were not blood descendants of Old Vardy they had all fallen under his banner and appropriated his name."

The Collins and Gibson founding lines, meaning Vardy Collins and Shephard "Buck" Gibson were said to be Cherokee and stole the names of white men in Virginia.  Their DNA indicates that if they were Native, it was not via their paternal line. 

Comma splice. Hate to be petty. How do you steal a white man's name? I certainly hope no Melungeons are going to steal mine. This is one of the funniest conclusions I have read so far. But do continue, Gentle Reader.

Dromgoole reportedly stayed with Calloway Collins who stated that his grand-father was a Cherokee Chief.  His Collins grandfather was Benjamin Collins who lived on Newman's Ridge and did not remove in 1835.  There are no known Cherokee who lived on Newman's Ridge.  The Cherokee Nation was significantly further south prior to removal in 1835, as shown in Figure 12.

After making fun of other people who claim Cherokee chiefs and princesses in their family tree, the authors seem willing to entertain an exception with their own relatives, or friends. We will not quibble with their Cherokee history but would have said "farther" rather than "further." Maybe that is a regionalism, however. Don't give up yet.

The Mullins line was reputed to be Irish and is confirmed genetically to be European.  However, "Irish Jim", the progenitor is listed as a "free person of color", a very unusual classification for an immigrant from the British Isles.  Droomgoole states that the Mullins will "fight for their Indian blood."  No Indian heritage is evident in historical records or DNA.

We would like to remark that Irish, like other undesirables in early America, were often considered non-white and persons of color. Please purchase the book by Nell Irvin Painter for your local library, The History of White People. 

The Denham line was said to be Portuguese and oral history indicates that the line originated "further south" or possibly from a shipwreck, yet the Revolutionary War pension application of David Denham says he was born in Louisa County, Virginia.  The Denham line may connect with the Gibsons as early as 1627 in Charles City County.  The Denham DNA is European and the Denham descendant who DNA tested has no Spanish or Portuguese matches.  Denham is not Portuguese on the paternal Y-line.

Watch that distinction between "further" and "farther." The latter is to be used of distance; the former of degree or depth. I was born pretty far south but not fur.

A significant amount of oral history regarding Portuguese heritage exists, but no historical, genealogical or genetic evidence has been discovered to corroborate the oral history.  Some historical information refutes the oral history. 

Really? Who have you been talking to?

Claims of Portuguese ancestry are a pattern that stretches beyond the Melungeon families and is found explaining a "dark countenance" across the eastern half of the US, providing a European answer to the question of why. 

Oh, no. Now we have "dark countenances." Please buy that book I mentioned.

One possible source of the pervasive Portuguese oral history is that the Portuguese were heavily involved prior to 1642 in the early importation of African indentured servants, some of whom would eventually become free and some of whom would become slaves.

So that's it!

On the 1880 census, several Melungeon families claimed Portuguese as their race.  An analysis of the families so claiming reveals that none of them were descended from the Denham line.  Some, but not all were descended from the Sizemore and Riddle Native families.  Of the 22 adults listed initially as Portuguese, more than half, 12 are descended from either the Goins or Minor families with African haplogroups, 11 are descended from the Sizemore family, 4 from the Riddle family, 4 are not descended from any of the above and 3 are unknown. 

Tsk, tsk. The word "none" requires a singular verb. You should write, "None of them is..." I am not even going to attempt to straighten out your punctuation or sentence predication. Gentle reader, please persist. The best is yet to come.

Ironically, the Sizemore family is not identified as Melungeon in Hancock/Hawkins Counties, but is ancestral to many Melungeon families and settled there are well.  The Sizemore family is proven genetically to be Native, haplogroup Q1a3a.  Furthermore, there are two Native Sizemore lines, although only one is known to be ancestral to the Melungeon families.  A European Sizemore line also exists, and the Bolins match the European Sizemore lines, suggesting that these families may have had a common genesis or that these Sizemores may in fact be Bolins.  Both families are found in early Virginia along the North Carolina border.

I always wondered about that. Now I know less than I thought I did before.

A link has been found through the Goins family to the Lumbee.  The "Smiling" Goins family was not thought to be an original Lumbee family, but subsequent research has shown that even though the group in 1915 was thought to be an "outside" group, the ancestors of this group were found in 1770 with other founding Lumbee families.  The Moore and Cumberland County Pocket Creek Goins groups have always claimed kinship with the Lumbee.  Other links to the Lumbee have not yet been found.  The Lumbee Tribe has been reticent to support DNA testing and common surnames between the Lumbee and the Melungeon Core group have not all been tested.

I don't blame the Lumbee tribe for being reticent to support DNA testing. Most folks I know are pretty reticent about DNA. A better word would have been "reluctant."

The Riddle family who is also ancestral to the Melungeon families is genetically European, haplogroup R1b1b2, but is documented historically to be Indian from a 1767 tax list where they are noted as such.  Furthermore, they are found in other "Indian Communities" such as Pocket Creek in Moore County, NC, tied to the Goins family.  In 1820 several Riddle families are found beside a Goins family whose first name is illegible.  In 1830 in Moore County, William Riddle is found beside both Levy and Edward Goins, believed to be the Goins family of the Lumbee. 

That Riddle family! And now we find out they are living next to "Smiling" Goins.

Edward Goins is later found in Sumter County, SC, a progenitor of one the Smiling Indian families in Sumter County, SC, also known as Red Bones.  This Goins family moved from Sumter County and settled in Robeson County, NC in 1907.  The progenitor of this line, Frederick Goen, is found with the Lumbee much earlier, on the 1770 Bladen County tax list. Testimony regarding this family in 1915 states that the father's line is Melungeon.

Are you sure this is the summary?!

The Goins family is found in multiple locations in Virginia, North Carolina, South Carolina and Tennessee, several of which are involved with legal proceedings relative to their race.  There are three genetic Melungeon Goins family lines, two E1b1a and one haplogroup A, all three being of sub-Saharan African origin. 

Wait a minute. Aren't we just talking about male lines, and only one family at that, and only three cases at that. That doesn't seem like a fair summary.

In Hawkins/Hancock County, Tennessee, Sumter County, SC, and Spartanburg District (Georgetown County), SC these Goins families are referred to as Melungeon.  Genetically, they share a common ancestor, probably John Goins found in Hanover County in 1735.

Indeed! So to carry this to its logical conclusion, Jack Goins is descended from John Goins. John Goins was a white man. So is Jack Goins. Did I miss anything?

The Sumter County, SC Goins family is found in Bladen in 1770 . . . where Louisa County families later settled. [several paragraphs omitted for brevity's sake]

Turning to autosomal genetic testing, no Native heritage was found using marker D9S919, although this finding does not disprove Native heritage.

Absence of evidence does not mean evidence of absence. That's what my father always told me.

It is possible in some cases that haplogroup E1b1ba could be found in rare instances in Europe through historical invasions such as the Roman Legions. However, given the Louisa County cluster, it's unlikely that a large cluster of haplogroup E1b1a of European origin would be coincidentally found together in the colonies.  It's much more likely that this cluster is a result of people with a common bond living in close proximity and intermarrying.  Furthermore, if haplogroup E were to be found in Europe, it's much more likely to be E1b1b, the Berber haplogroup, not E1b1a.  No Melungeon families are found with haplogroup E1b1b or subclades.

Thank goodness those Roman legions didn't make it to Tennessee. But it seems like no North Africans did either, which is strange. See our post Right Church, Wrong Pew.

Marriage partners in colonial Virginia were legally restricted beginning in 1691 with the passage of a law that forbid the English intermarriage with Indians, mulattoes and negroes.  Prior to that, interracial marriages and encounters outside of marriage occurred regularly.  This restriction, along with increasingly severe penalties in the event that the intermarriage did occur was repeated in various laws in 1705, 1753 and 1792 in Virginia and in 1715 and 1741 in North Carolina, in essence requiring anyone who was other than white to intermarry within their own group or groups of racially similar individuals, meaning others "of color."  Legal marriages between whites and other races would have had to predate 1691, although illegitimacy certainly knew no boundaries.  In marriages occurring after 1691 in Virginia, in couples where one individual was "other than white," both partners could be presumed to have at least some recognizable non-European heritage.

This is one of the most hilarious and bigoted parts of this article, so be sure you read it several times to absorb it in all its unintended humor.

Given the proven Native ancestral families to the Melungeons combined with cultural styles that are perhaps suggestive of a maternal culture, Native or African, via illegitimacy, one would expect to find Native or African mitochondrial DNA.  However, all mitochondrial DNA to date has been European.  This was not expected given the very high levels of consanguity and intermarriage within this group from at least the mid 1700s through the mid-1900s.  However, Heinegg's analysis of mixed race families in early Virginia and his discovery that the predominant pattern of African or mixed men fathering children with white indentured female partners may explain these findings.

Typo:  consanguinity. And sorry, but we don't buy your and Heinegg's theory about African men "fathering children with white indentured female partners." Those weren't African men, for one thing. But that is a whole other story, and it happened in Spain, and besides the wench is dead.

No evidence, historical, oral, genealogical or genetic has been found to support a Turkish, Middle Eastern, Jewish or Gypsy heritage.

Paydirt! The end! So what are they? You're not going to cop out and tell me they are just plain old folks. Or are you? Shucks, I guess that would make sense, though. Start out with a bunch of plain old folks, test them, and you can prove they are plain old folks. Your conclusions come from your premises. And your premises come from your conclusions.

I am normally all in favor of any DNA test or genealogy subscription or genealogical resource that can help the family researcher discover their ancestors. But "Melungeons, A multiethnic Population,"published by the International Society for Genetic Genealogy in Journal of Genetic Genetic Genealogy, by Roberta J. Estes, Jack H. Goins, Penny Ferguson and Janet Lewis Crain is without doubt one of the most pretentious, portentous and poorly conceived articles I have ever read in just about any field, and I will read almost anything. If you want a bitter laugh, though, check it out. You may find out why "Smilin' Goins" is smiling.

More information about Melungeons
Toward a Genetic Profile of Melungeons in Southern Appalachia
Melungeon Studies
Melungeon Match

Every year in the United States about half a million paternity cases are performed proving or disproving whether an alleged father is the true parent of a child. Sometimes there is a court order to do this; at other times, it is sheerly for personal information. The determination of parentage is made based on a simple comparison of a small rock-hard number of genetic markers in the DNA fingerprint of the child and alleged father. Samples are extracted from a 30-second cheek swab and processed at any of an estimated 2,000 forensic labs across the country. The standard in place since about 1997 has been a set of 30-32 biallelic or double values each person carries on loci spread across their chromosomes, making for a virtually unique identification signature that reflects the equal DNA input of mother and father (and in fact all grandparents and all ancestors).

Often termed CODIS markers (standing for Combined DNA Identification System), these alleles or variations are the magic numbers underlying the popularity of paternity tests as well as the national passion for jailing or exonerating crime suspects. If a value is found in the DNA profile of the child and is not present in the two observed values of the alleged father on the same locus, this constitutes what is known in the paternity business as an exclusion:  the alleged father is almost certainly not the true father. Conversely, if all the alleged father’s values can be detected in the child’s on each location, one after another, that male is judged to be the child’s biological father to a 99.999% certainty. Paternity tests are simple math.

A famous paternity test involved proving who was the true father of the baby born to Anna Nicole Smith in 2006. After her death in early 2007, several men came forward claiming to be in father, including a European prince, Anna Nicole’s bodyguard and a convict who had been a former boyfriend. Larry Birkhead pressed his case. When the results came in, he was declared by Bahamian court to be the baby’s biological father. The child’s original birth certificate was amended to show this.

Can paternity testing be used in a reverse process to establish the identity of a father, given only the child’s DNA profile? No, but with enough DNA profiles available for comparison the missing member of a family group can be reconstructed by comparing alleles they must share, called obligate.  Doing so is a matter of logic and statistics, mostly just either-or, deductive logic.

I became interested in reconstructing a parent’s profile after many of DNA Consultants’ customers inquired if such a calculation or estimate was even possible. Some were adopted persons who had no recourse to testing their parents, some knew one parent but not the other, and some had no access to parents. They were either uninterested or unavailable. In a special category were females who were only-children with both parents deceased who wanted to know something about their father, but who could not take a Y-chromosome haplotyping test, as they did not carry a copy of their father’s male DNA. In this respect, autosomal DNA testing is the great equalizer.

My father, Lawden Henry Yates, died in 1978. My mother, Bessie Cooper Yates, lived to the advent of DNA tests, but I failed to obtain any sample from her before her death in 2006. I had siblings and half-siblings still living, however, so in 2010, I constructed a family group autosomal DNA study with the help of Crystal Wagner at Chromosomal Laboratories/Bode Technology. The results were very satisfying. This paper and blog post will serve as a report to those who are interested.

Step One
I was fortunate to have the participation of three half-sisters by my father, along with his second wife, their mother. Comparing mother and daughters I was able to verify the obligate alleles each daughter must have received from the mother.

Autosomal alleles are fixed in our genealogy, have little or no mutations (unlike YSTRs, which mutate from generation to generation, as do mitochondrial nucleotide positions, though more gradually over time)[*] and derive from both parents equally by recombination at the moment of conception. They are copied and preserved without change in every cell of our bodies. The mother is responsible for half of the equation.  By a process of elimination the other number on each row of the lab report must represent the father’s contributions.  This method is completely logical and unequivocal. There can be no other answer to the problem. No studies suggest these pieces of our double helix DNA change significantly in transmission from one generation to the next or mutate over time in genealogies. Their values and patterns are strictly attributable to heredity.

Step Two
The father’s alleles are confirmed by a comparison with three children by his first wife, my mother.  

Step Three
By the same watertight process we can now proceed to the mother’s reconstructed DNA profile. In it, we can expect to visualize the final piece of the puzzle, proceeding from the known to the unknown according to the immutable laws of autosomal DNA and genetic inheritance.

We have arrived at my mother Bessie Yates’ DNA profile by a multi-step process of extrapolating it using three of her children and three children by her husband’s second marriage, along with the test results of my half-sisters’ mother. Seven tested profiles yielded two reconstructed ones. In the process we have also recovered my deceased father’s DNA profile.

Separating Mother and Father’s Contributions to Ancestry
Having overcome these hurtles, I was most interested in the utility of the results. I felt confidant about the method. But what excited me most was to see how my own autosomal ancestry results might be respectively apportioned in my parents. For this, I ran a DNA Fingerprint Plus on them both. The findings were very satisfying to me personally, helping solve many questions I had always had about what ancestry I got from my father, what from my mother and what from both.

Let’s start with American Indian admixture. My own DNA Fingerprint Test, as well as percentage tests through another company, suggested a relatively large amount, perhaps one-quarter all told by various measures, but family tradition had placed Native American heritage solely on my mother’s side. To be sure, my mother gave me a Native American mitochondrial haplotype, indicating a female line going back to a Cherokee woman in Georgia, traced as far back in records as 1790. Extensive genealogy research showed, however, that my father’s great-grandmother was also a Cherokee with the surname Thomas from North Carolina. What did the new autosomal DNA profiles say?

On a rough measure, I have received a “double dose” of Native American II, a marker co-relating with 80% of 24 tested American Indian populations in the atDNA 4.0 database. (Two siblings and one half-sibling received only single doses.) This seemed to indicate that I had some degree Native American (not possible to say how much) from both parents. True enough apparently, judging from the top world matches for my mother and father. I give here the top ten for comparison.

 

Mother Rank World Population Matches 1 Russia - Chukchi (n = 15) 2 White - Maine (n = 151) 3 Native American - Athabaskan (n = 101) 4 Swedish (n = 311) 5 Hispanic - U.S. (n = 199) 6 El Salvadoran (n = 296) 7 Native American - Choles - Chiapas (n = 109) 8 Portuguese - Azores (n = 100) 9 Argentinian - Patagonian - Chubut (n = 320) 10 Korean - Western U.S. (n = 63)

 

Father Rank World Population Matches 1 Melungeon (n = 40) 2 White - Canadian (n = 164) 3 Belgian - Flemish (n = 231) 4 Native American - Saskatchewan (n =105) 5 India - Indo-Caucasoid - Brahmin (n = 110) 6 Native American  - Minnesota (n = 191) 7 India - Indo-Caucasoid - Kayastha (n = 103) 8 Japanese - Central (n =164) 9 Argentinian - Santa Fe (n = 562) 10 Brazilian - Sao Paulo (n = 113)

 

My mother’s Native American population matches were slightly higher and more numerous than my father’s, including more peoples like the Chukchi and Mongols, but my father’s were not inconsiderable in their own right. Here’s how their two megapopulation rankings look:
 

Mother North Asian 1 in 35 billion Northern European 1 in 632 billion Central Asian 1 in 747 billion American Indian 1 in 827 billion European American 1 in 856 billion Iberian American 1 in 1 trillion Iberian 1 in 1 trillion Central European 1 in 2 trillion Melungeon 1 in 2 trillion Mediterranean European 1 in 2 trillion

Father European American 1 in 20 trillion Northern European 1 in 185 trillion Jewish 1 in 204 trillion Iberian 1 in 274 trillion Iberian American 1 in 728 trillion Central European 1 in 919 trillion Middle Eastern 1 in 924 trillion American Indian 1 in 1 quadrillion East European 1 in 2 quadrillion Mediterranean European 1 in 2 quadrillion

These results confirmed that my father did have some Native American, although evidently not as much. They also suggested that although both bore about the same mixture of European and Native American ancestry (including high matches to Melungeon), my mother had a more pronounced Native American cast, her highest match being to North Asian, one of the supposed Asiatic feeder populations of Native Americans, whereas my father’s top match was European American. Based on profile frequencies, my father was five times more likely to be European American than American Indian if subjected to forensic profiling, whereas my mother was 18 times more likely to come out as a Siberian Native than Northern European. Sometimes, it seems, exotic ancestry rises to the top. My overall conclusion was that my mother probably had 3/8 and my father 1/8 Native American heritage, which corresponds to their proved genealogies.

In my own profile, combining those of my parents, here are my megapopulation results:

 

Self (Donald N. Yates)

North Asian	1 in 3 billion
Central Asian	1 in 12 billion
American Indian	1 in 25 billion
East Asian	1 in 42 billion
European American	1 in 42 billion
Northern European	1 in 44 billion
Iberian American	1 in 50 billion
Central European	1 in 70 billion
Iberian	1 in 75 billion
Melungeon	1 in 103 billion

According to these frequencies, my mother and father’s Native American ancestry reinforced each other in me to make my top four matches Native American (or Siberian-Mongol-Turkic), so that I am about twice as likely to be graded into the Native American category by population statistics than the European. Similar conclusions emerged from my siblings’ tests, and a diminished presence of Native American indicators was confirmed in my half-siblings, although their mother seemed to evince some Native American as well as my father, the shared parent. All participants in this study had grandparents born in North Alabama.

Further observations are possible. For instance, I was surprised to see a large indication of Jewish ancestry in my father’s profile. Genealogy confirms as much, as the family surname is Hebrew (an anagram of Ger Tzedek similar to Katz, Kohen Tzedek). The emigrant Yates figure was reportedly an English Jew in seventeenth-century Virginia. My mother also showed Jewish ancestry. Both parents matched Melungeons, an Appalachian ethnic type suspected to have Sephardic Jewish forebears. My father’s family included uncles named Josephus, Manaen, Irbin, Azariah, Lazarus and Sherith—apparently his Middle Eastern matches were truthful to a partial Muslim background. My mother’s mother was named Palestine, and the names Isaac and Jacob were ubiquitous in her family tree. But neither side of the family claimed any Jewish heritage. It was left to autosomal DNA to reveal that hidden inheritance.

Although never performed before to my knowledge, this method of reconstructing autosomal profiles can be useful to others seeking to recover unavailable relatives’ genetic fingerprints and to separate parents’ contributions to their children’s ethnic and ancestral stories. Since it is based on immutable markers in DNA it rests on more solid ground than Y chromosome alleles or mitochondrial mutations. The challenge in exploiting the method is to have enough subjects in your family group study. In my case, I was fortunate to have a prolific father with six living children. I would like to conclude by thanking all my siblings, half-sisters and my father’s widow. Their participation made it possible to present a true first in DNA genealogy.

Read the working paper
A Method of Reconstructing Parentage and Ancestry by Autosomal DNA Profiles

Go to Learn about DNA

 

 

 

 

Lorton, VA – February 13, 2012 – Bode Technology (Bode), a leading provider of forensic DNA services, announced today the acquisition of Chromosomal Laboratories, Inc., a leading provider of DNA testing for immigration and private paternity.

By adding this expertise to its portfolio of service offerings, Bode will utilize its vast international and domestic presence to provide best inclass immigration paternity and private paternity testing to clients worldwide. Bode is a whollyowned subsidiary of SolutionPoint International, Inc.

“Chromosomal Laboratories has established an excellent reputation through its focus on clientservice, fast turnaround and high quality,” said Barry Watson, CEO & President of Bode. “Their focus on immigration and paternity testing complements Bode’s strengths in forensic casework and databasing, and enables us to expand our domestic and international offerings. With the increased use of DNA for immigration purposes and recent changes in the marketplace, we see opportunities for significant growth.”

“Having admired and respected Bode Technology as a competitor in forensics for years, I am extremely excited and proud that Chromosomal has this opportunity to join their team,” said Vladimir Bolin, CEO and co-founder of Chromosomal Laboratories, Inc. “The ethics, vision,resources and leadership of the Bode team is beyond reproach, and sets a solid foundation for Chromosomal’s technical and market leadership in the coming years.”

Chromosomal Laboratories, founded in 2004, maintains AABB accreditation for relationship testing activities and ISO 17025 accreditation in forensics. It provides relationship and forensic services both in the United States and internationally. Operating out of its state-of-the-art facility in Phoenix, AZ, Chromosomal Laboratories has provided services for samples from every state in the United States and approximately one hundred countries.

DNA Analysis from Fingerprints

Fingerprints are routinely used in crime scene investigations to characterize individuals associated with forensic evidence. However, fingerprints are sometimes smeared or incomplete and cannot be interpreted or used for further analysis. The use of mtDNA for the identification of fingerprints would be valuable in forensic investigations. The research department at The Bode Technology Group has developed a method to obtain mtDNA from processed fingerprints on both non-porous and porous substrates.

The research department at The Bode Technology Group is currently developing methods to obtain STRs from processed latent fingerprints. Many of the same substrates and chemical processes used for mtDNA recovery will be tested for STRs. Updates on our research will be posted periodically on the company's website.

Serbs, Croats “have most similar DNA”

Source: Blic

SKOPJE -- A six-year long DNA research of the Balkan peoples conducted by Skopje Forensics Medicine Institute has showed remarkable resemblance among them.

The Macedonian scientists received samples and data from most of the Balkan countries, except from Greece, who refused to take part in the project. All the other countries sent DNA analyses of the victims who had died in their territory to Skopje.

“By using sophisticated computer technology we have compared the data from Macedonia, Serbia, Bosnia, Bulgaria, Croatia and Kosovo,” Jakovski explained.

The research has been published in the leading world forensics magazines and the results will be used in criminal investigations in cases when victims are from the Balkans.

Jakovski pointed out that the research represented a very useful scientific work and that it had nothing to do with daily politics.


Photo:  A Serb. 

New Science/AAAS Webinar - Next Tuesday

The Hunt for Missing Heritability: Challenges and Opportunities for Novel Locus Discovery in Non-European Populations
Tuesday, January 31, 2012, at 12 noon U.S. Eastern Time (5 p.m. GMT)

A growing number of investigators are looking beyond European cohorts to study common and rare variants in populations around the world in the hunt for novel susceptibility genes. Join our expert panel to hear about how population genetics integrates with the genetics of complex disease to reveal novel disease genes and population-specific rare variants.
Ask your questions live during the event!
Register TODAY: www.sciencemag.org/webinar
Produced by the Science/AAAS Custom Publishing Office and sponsored by Affymetrix

Will explore theme of official and unofficial ethnic self-identification from perspectives of genetics, marketing and other disciplines

A team of professors has just submitted a proposal for a 90 minute panel discussion at the 12th International Diversity Conference in Vancouver, B.C., June 11-13, 2012.

We'll use this blog to announce updates and you may place comments here and link to it.

Title:
Perspectives on Ethnic Identity: Epigenetics, Marketing, DNA and Genealogy

Panelists:
Donald N. Yates, DNA Spectrum
Dr. Anne Marie Fine, Fine Natural Medicine
Elizabeth Caldwell Hirschman, Rutgers Business School
Teresa A. Panther-Yates, Paradise Valley Community College, Phoenix
Wendy D. Roth, University of British Columbia
Phyllis E. Starnes, DNA Consultants

Description
Genetics has transformed many of our notions of race, ethnicity and identity. How do people in North America's melting pot of emigrants admixed with indigenous and African slave descendants self-identify when naming their primary and ancillary ancestries for official and unofficial purposes? The fundamental question of who you are and what you claim to be will be raised from the perspectives of marketing and consumer studies, sociology and direct-to-the-consumer DNA testing, genealogy (with a focus on the ethnic group known as Melungeons), epigenetics and medical marketing, and the special case of American Indian Descendants and Partial Descendants.

Stream: Identity and Belonging; the Politics of Diversity; Globalisation
Presentation Type: 90 minute Colloquium in English

Gene surfing is a process in population expansion whereby certain variations become prominent and dominant in a short time, appearing to skip the slow, steady, uniform accumulation of variegation and diversification. According to a study of the population structure and genealogies of Saguenay Lac-Saint-Jean in Quebec, this type of drastic change accompanied the immigrant wave front that spread over the area in the 17th century. "Deep Human Genealogies Reveal a Selective Advantage to Be on an Expanding Wave Front" in Science magazine describes the resulting demographics.

Abstract
Since their origin, human populations have colonized the whole planet, but the demographic processes governing range expansions are mostly unknown. We analyzed the genealogy of more than one million individuals resulting from a range expansion in Quebec between 1686 and 1960 and reconstructed the spatial dynamics of the expansion. We find that a majority of the present Saguenay Lac-Saint-Jean population can be traced back to ancestors having lived directly on or close to the wave front. Ancestors located on the front contributed significantly more to the current gene pool than those from the range core, likely due to a 20% larger effective fertility of women on the wave front. This fitness component is heritable on the wave front and not in the core, implying that this life-history trait evolves during range expansions.

So gene surfing in an expanding colonization phase can produce a genetic revolution whose effects will be felt for hundreds or thousands of years downstream in history.

We wonder if the same wave front demographics might explain some of the following population phenomena:

• Large scale triumph of Norman male lineages following the conquest of England in 1066.
• Selective expansion of Middle Eastern genes in Tennessee (including Cherokee families, Jewish male and female lines and Melungeons)
• Relatedness among Jews and "Jewish diseases"
• Diversity-within-uniformity of Polynesians
• Population replacement of Old European (U, N) by Middle Eastern genes (T, J)  in Europe as a result of the Neolithic Agricultural Revolution

Many students of history are puzzled why old populations have the allele frequencies and heterozygosity clines they have. Genetic drift is only part of the answer. Gene surfing and selection in deep history are the rest of it.

At a time when it seemed that American science had bitten off more than it could chew with the Human Genome Project, Craig Venter and his innovative company published "A New Strategy for Genome Sequencing." Appearing in the journal Nature in 1996, the Venter multi-center approach bypassed laborious gene mapping and allowed the HGP to meet its goal of full sequence information on the human genome in 2000.

"In the race to sequence the human genome," write the editors of Nature's DNA Technologies Milestones, "research groups had to choose between the random whole genome shotgun sequencing approach or the more ordered map-based sequencing approach." The choice of randomness versus order was present from 1982, but the Venter strategy was resisted for many years. Finally, in 1996 it was accepted and given an equal emphasis with the more orthodox approach.

After a standoff between the two groups of scientists, "a showdown ensued, with the biotechnology firm Celera Genomics wielding whole-genome shotgun sequencing and the International Human Genome Sequencing Consortium wielding map-based sequencing. Yet when the dust settled, it was a draw -- both groups published their initial drafts of the human genome concurrently in 2001."

The maverick technology helped make high throughput genomic sequencing at commercial labs an economy reality and gave birth to a range of new DNA tests within the reach of ordinary consumers like you and me. Today, fifteen years later, those interested in autosomal ancestry testing and personal genomics have biologist and entrepreneur Craig Venter and his irascible persistence as a scientific pioneer to thank.

Phyllis Starnes drew many threads of Melungeon research together when she delivered her presentation on autosomal DNA validation studies at the Fifteenth Melungeon Union, held atWarren Wilson College, Swannanoa, NC July 15-16, 2011. Sponsored by the Melungeon Heritage Association of Kingsport, Tenn., the conference was appropriately titled, "Carolina Connections: Roots and Branches of Mixed Ancestry."

Starnes, who is administrator of DNA Consultants' Melungeon DNA Studies as well as an assistant investigator responsible for authoring reports, began her presentation by telling her own story. In 2002, she read an article about the occurrence of Familial Mediterranean Fever in Appalachia, where she grew up. "This article was the catalyst for me to address my own health and ancestry," she told participants.

She had met N. Brent Kennedy, author of the touchstone book The Melungeons:  The Resurrection of a Proud People, and soon became acquainted with both Elizabeth Hirschman (Melungeons:  The Last Lost Tribe in America) and Donald Panther-Yates, both speakers at Melungeon Fourth Union in Kingsport. The resources she needed for understanding her peculiar heritage were coming together.

Starnes summarized the Hirschman-Yates study of Melungeon DNA results published last December in Appalachian Journal and went on to reveal the results of a validation study of the Melungeon data in which the DNA profiles of the 40 participants were fed back into the database atDNA, expanded to reflect the world's only autosomal DNA Melungeon sample.

Astoundingly, many Melungeon DNA project participants had Melungeon as their No. 1 match, including Starnes.

In 1990, physical anthropologist and chemist James Guthrie analyzed blood sampled from 177 Southern Appalachian people identifying as Melungeon tested by Pollitzer and Brown in 1969. Guthrie's analysis was consistent to a remarkable degree with the Hirschman-Yates study.

All studies to date have verified and confirmed repeatedly that Melungeon descendants carry an unusual mix of Jewish, Mediterranean, Turkish, Iberian, Native American and African DNA. They also inherit genetic predispositions toward developing Familial Mediterranean Fever and other disorders.

This overarching thesis explaining what makes Melungeons different was advanced over twenty years ago by Brent Kennedy. It has now been re-examined, probed, tested and validated by unimpeachable followup studies, but little has turned up to change Kennedy's original thinking. It would be wrong to say that Melungeon origins today are controversial or mysterious. There is much we do not know about them, but their genetic and medical profiles are clear.

Starnes is enrolling people in Phase II of the Melungeon DNA Study. She has also inaugurated a password-secured blog where participants can freely share their experiences.

According to a professor of immunology and microbiology at Stanford University, humans were able to survive, spread and expand their populations once they left Africa because of immunities to disease they acquired from Neanderthals and Denisovans, who had lived in Europe and Asia already for hundreds of thousands of years.

A review of the new research appears in the online science magazine Discover under the date of June 20, 2011. The professor's name is Peter Parham.

Crux of the matter, according to Royal Society report

• Parham began by taking a close look at a family of genes called  human leukocyte antigens (HLAs), which play a central role in our body’s immune responses. We are able to react to a wide array of diseases because our HLA genes are highly variable, each containing dozens of  alleles (forms of genes).
• Our ancestors in Africa, however, would have had a small number of HLA alleles because they likely traveled in small bands and had little contact with other groups. Moreover, their HLAs would have only protected them against African diseases.
• When Parham compared the HLAs of modern humans with those of Neanderthals and Denisovans, he noticed some overlaps. In particular, he found that HLA-C*0702, an allele common in Europeans and Asians but nonexistent in Africans, was also present in the Neanderthal genome. Similarly, HLA-A*11, which is found in modern Asians but not in Africans, popped up in Denisovan DNA.
• Overall, about 50 percent of HLA Class I alleles in Europeans seemed to come from Neanderthals, 70 to 80 percent in East Asians from Denisovans, and 90 to 95 percent in Papuans from Denisovans, Parham said at a recent Royal Society meeting.

The latest revelation about the true nature of Neanderthals shows how fast current scientific and popular thinking is moving on the subject. Two years ago it was still debated whether "humans" could interbreed with Neanderthals, or whether Neanderthals were even a human species. Denisovans were only discovered in the last year.

DNA Consultants introduced its Neanderthal Index, a measure of affinity with archaic populations of Europe and the Middle East, one year ago this month.

Dr. Donald Yates says he is planning a visit to Vindija cave near Varazdin in Croatia this month to see firsthand the world's most important site for the discovery of Neanderthal bones and lifeways, dating to about 30,000 years ago.

Human history changed drastically with the 1974 Neanderthal discoveries at Vindija Cave. Photo Tomislav Kranjcic.