You've heard of Gaius Flavius Antoninus, the assassin of Julius Caesar. You are probably familiar with crocodile shears, a notorious torture device. If you are an aficionado of the annals of rock and roll, you know about the band named Tilly that perished in an airplane crash on December 12, 1956 en route to a "Lester Concert Hall." And if you are really into military trivia, you probably could name the Bicholim Conflict as a little known Dutch war of the seventeenth century, right? 

The trouble is none of these persons, places or things ever existed, happened or lived. They are all fictions, examples of hoaxes on Wikipedia. The Gaius Flavius Antoninus hoax lasted for eight years and a month, from 2001 to 2008. During that time, probably many high school or college papers mentioned Gaius Flavius Antoninus' name without realizing that he never existed, that he was one of the jokey little displays of sophomoric humor in a cheap online information source whose content anyone can alter.  

You may think it is a harmless prank to invent a spurious entry like the Adyhaffe people (whose civilization lasted for five years on Wikipedia's list of ethnic groups, until last October when they were wiped out with a single click of a mouse), but depending on your motives and your practice of deceit such juvenile behavior may easily cross the line into cyber-bullying. 

Here's Not Looking at You, Kid
On a personal note, we were recently a bit bent out of joint when an article about our Principal Investigator Donald N. Yates in Wikipedia was vandalized (for the second time in a year) and attempts to remove offensive and defamatory material about him, the company and others were frustrated by the Wikipedia team of super-editors. 

To summarize, an article begun on Living Authors by ClaudeReigns (remember the actor in the 40s . . . cute, right?) in December 2010, survived until February 24, when two "users" began to blow it up and replace it, word for word. We became curious about the identities and motives of the two users. Both have been active in the upper echelons of Wikipedia for six to eight years, but are not identifiable by name. One hides behind a picture of himself or herself with a ski mask that makes himself or herself look like a terrorist. We were sufficiently scared to stay away from further research or poking around, especially after a Wiki official stepped in by the name of Red Pen of Doom (also unidentifiable). 

The M.O. of these losers, excuse me, users is similar. They become puffed up by power after volunteering content and help in no recognizable pattern of interests for year after year. Some are in the top 25% of contributors in terms of sheer mass of megabytes they have edited for Wikipedia. Like vultures, they often descend on controversial, especially racially charged subjects. Insecure as Walter Mittys going to Toastmaster sessions, they display "awards" and Thank You certificates on their home user pages. It is doubtful from their wide interests and anonymity and mechanical citation of administrivia that they actually correspond to real people you might be able to reach on the phone. 

Well, as said, we felt pretty bad about our experience being featured in Wikipedia, fairly abused and manhandled by malicious people you could never expose. Creepy? Yes. Wrong? Yes. Anything you can do about it? No. At least, however, nothing ended in tragedy, like the suicide victim in Maryland. 

One of the insidious things is you cannot combat libel or other abuses "within" Wikipedia. You will be banned for insisting on correcting the record or threatening legal action. This actually happened to one of the well-wishers who wrote to us. 

Read on in the comments. Unfortunately, you cannot edit or censor them. This is not Wikipedia. It is reality. 

To get to the crux of the cyber-bullying, read "A Personal Message from Donald N. Yates" in the February DNA Consultants Newsletter. 

PHOTO:  Bloviators, anarchists and agents provocateurs can hide behind anonymity on Wikipedia. 

Shakespeare painted the last of the York rulers of England as a murderous maniac who was rightly dispatched to hell by Henry Tudor in 1485. But the story of Richard III's skeleton supposedly dug up last year in a parking lot may top that of the Bard for pulling the wool over our eyes. Or it may be the luckiest archeological find since King Tut . . . . 

The last of the York dynasty was buried in Greyfriars, Leicester, but Britons are now talking about re-interring the bones believed to be Richard's in Westminster Cathedral with England's other beloved monarchs. In 2012, a writer from Edinburgh, Philippa Langley, was walking over a particular spot in the municipal parking lot when she got goosebumps and "absolutely knew I was walking on his grave." Langley helped fund an archeological excavation and on February 4, 2013, the University of Leicester confirmed that a skeleton found in the excavation was, "beyond reasonable doubt," that of Richard III, based on a combination of evidence from radiocarbon dating, comparison with contemporary reports of his slight frame, and a comparison of his mitochondrial DNA with two matrilineal descendants of Richard III's eldest sister, Anne of York. 

Hunches and Hunchbacks

According to a BBC article, “Richard III: The Twisted Bones that Reveal a King,” the skeleton had a “striking curvature” that could only be that of the hunchback king. But according to a Daily Beast article, “Unraveling King Richard III’s Secrets,” Shakespeare wrote a century after the fact and had a pro-Tudor, anti-York political agenda. “Portraits made after his defeat that show Richard with a hump- or at least uneven shoulders- are suspect as Tudor propaganda.” There is no historical evidence of Richard III having a “striking curvature” of the spine. Or even “uneven shoulders.”  There is no evidence beyond Shakespeare of his deformity. In fact, there is historical evidence to the contrary. The article, “Richard’s Comeback,” quotes the historian, Thomas More, as saying Richard III was of “bodily shape comely enough, onely (sic) of low stature.” The Countess of Desmond reported that, at a royal ball, Richard was the ‘“handsomest man in the room . . . except for his brother, Edward, and was very well made." 

Despite historical evidence, most articles that discuss remaining doubts about the case like, “Doubts Remain that the Leicester body is Richard III,” miss this point and take it as a historical fact that Richard III had scoliosis as does the skeleton that has been found in the parking lot.

What of historical depictions of Richard III’s face? “No portraits made during his lifetime have survived  and some later copies show signs of having been altered to make him appear more sinister” (“ Richard III: The Twisted Bones”). Nevertheless, a 3D scan of the skull was taken, and a 3D face created and painted. Ashdown –Hill is quoted as telling the BBC in the article, “Richard III Facial Reconstruction Reveals Slain King More than 500 Years After His Death,”that it “largely matched” the “prominent features” in posthumous representations of the king. The artist, Janine Aitken said her part was “interpretive not scientific.” At least it is a pleasant face. But is it Richard III’s face?

Jumping to Forensic Conclusions

And the skeleton includes 10 battle wounds showing Richard III “met a violent death…”eight to the head and two to the body—which they believe were inflicted at or around the time of death. Since he died in a battle, did not other soldiers meet untimely wounds in such a manner?

Not a few scientists are waiting for peer-reviewed results. But there are none. Instead of waiting for a boring academic conference, the sponsors at the Richard III Society chose to release the results via a Hollywood style press conference. 

What kind of DNA analysis was used? Mitochondrial DNA. According to Bryony Jones in his CNN article, “Body Found under Parking Lot is King Richard III, Scientists Prove,” “the mitochondrial DNA extracted from the bones was matched to Michael Ibsen, a Canadian cabinetmaker and direct descendant of Richard III’s sister, Anne of York, and a second distant relative who wishes to remain anonymous.” Well, end of story and close that book. Right? Not so fast. Some scientists believe that the testing done was not sufficient. Why?

Mitochondrial DNA has limitations. It does reflect the deepest ancestry [see The Seven Daughters of Eve by Bryan Sykes], but is also prone to contamination [under such circumstances]( Pappas). Especially when we are discussing skeletons reminiscent of Night of the Living Dead interred improperly for centuries in damp soil. Timothy Bestor, Professor of Genetics and Development at Columbia University Medical Center, is quoted in the NY Academy of Sciences article, “Skeletal Remains of King Richard III Reportedly Discovered,” as saying that the possible quality of the [mitochondrial] DNA [under the given circumstances] was one of his key reasons for skepticism. “’After 500 years or more in a wet environment like England’s, “‘the microbes are going to degrade the DNA. It’s just food to them, ‘” says Dr. Bestor.  And Pappas quotes Maria Avila, a computational biologist at the Center for GeoGenetics at the Natural History Museum as saying, “The DNA results presented today are too weak, as they stand, to support the claim that [the] DNA [sample] is actually from Richard III…more in depth DNA analysis summed to the archaeological and osteological [bone analysis] results would make a round story [She is requesting Autosomal DNA analysis akin to what was done with the hominin discovery of the Denisovans].”  And she wonders about contamination with the type of DNA testing that was done. Avila says that, “Before being convinced of ANY atDNA study, it should be explicit that all possible cautions were taken to avoid contamination” and … “ also warned that people could share mitochondrial DNA even if they share a family tree” ( Pappas). The article, “Doubts Remain that the Leicester Body is Richard III,” a Mark Thomas at University College London is quoted as saying that “people can have matching mitochondrial DNA by chance and not be related.”

And Bestor asserts there other reasons to be skeptical, even though “Richard Buckley, lead archeologist from the University of Leicester, asserts ‘“this is beyond reasonable doubt’” based on genetic and historical forensic evidence.” Bestor argues that beyond the high risk of sample contamination, there are three other “particularly complicating factors.”  Of course, it is often an overlooked fact that “the English aristocracy reproduced within a closed gene pool in order to preserve lineages. This inbreeding results in consanguinity” (“Skeletal Remains of King Richard III”).  Dr. Bestor is quoted as saying, “ You may have the same mitochondrial haplotype, but that does not guarantee a lineal descent from a given individual.” [ Mitochondrial DNA analysis is not the same as Y haplotype DNA analysis because it focuses on deeper ancestry whereas male haplotype DNA analysis is linked to more recent male lines ]. He also points out the possibility of adoption. [The possibility of an adoption or any type of non-paternity event increases as one delves back into the distant past of any family tree]:

Another confounding factor is that, in the 17-25 generations separating King Richard’s sister from her extant relatives, there is a fair chance that children of deceased parents’ may have been adopted by their parents’ siblings somewhere along the way. After all, medieval lives were short. Such adoptions may have been kept private and excluded from historical or genealogical records. 

Moreover, Bestor points out that the “genetic sequences and statistical data are yet to be released” but adds that the “historical evidence is quite compelling.” According to this article, forensic evidence of the bones (1455-1540)matches with the time that Richard III was to have died ( 1485). But didn’t many people die at this same time during the same battle with similar wounds?

Behind the Numbers:  Jim Bentley

Jim Bentley, DNA Frontiersman

(Part Three of a Series)

We interviewed  one of Chromosomal Labs Bode Technology’s senior staff members, Director of Sales and Marketing Jim Bentley, to get his perspective on industry changes over the past thirty-five-plus years.

Jim Bentley.

When did you first get interested in DNA?

JB: I’ll have to preface my answer with a few remarks on “the early days.” When I graduated from Arizona State University in the 1970s, DNA testing as we know it, was not really a field that was in existence. There was not a lot going on. The little work I did with chromosomes was using electron microscopy. I worked in the biochemistry department, however and performed hundreds of assays using poly-acrylamide gel electrophoresis, mainly for separation of proteins. This technique, although improved and streamlined remains in use today for DNA-STR separation. The field we’re in today where we can determine a person’s profile and compare it with others for forensics  for relationships, ancestry, missing persons, adoptions and the like, that technology hadn’t been developed yet. It wasn’t quite as easy as it is today.

Tell us more about the evolution of DNA testing.

JB: It basically began with blood groups and types. The first paternity test was done in a court case with Charlie Chaplin in the 1940s. He was excluded as the father, but the court said he could go ahead and pay child support anyway—probably, because he could afford it. Since that time, scientists started moving past groups and types into some other techniques. Human Leukocyte Testing (HLA), DQ-Alpha, and Restriction Enzyme STR testing (RFLP) are examples of the evolution of DNA testing.

The big breakthrough came when Dr. Alec Jeffreys at the University of Leicester discovered STR testing in England the late 1980s. He used STR profiling on the Colin Pitchfork case. Colin Pitchfork became the first criminal convicted on the basis of DNA evidence and as a result of a mass DNA screening operation. He was charged with raping and murdering two teenage girls. Since that time the forensic community has really refined the techniques to perform STR testing. They’ve made it simpler and more accurate. It’s really moved exponentially in the last twenty years. Today competent biologists and chemists can produce excellent results, every time.  Dr. Jeffreys has been knighted for his contributions.

So what got you involved?

JB:  I came out of college as a chemist, one interested in the medical field. I started out working in clinical chemistry and toxicology. The work we did with DNA was extremely limited and very costly. But I did stick with a career in clinical chemistry. Within four years after graduating from school I was managing a clinical laboratory in Houston, Texas called National Health Laboratories. It was a laboratory of about one hundred scientists and support staff. After mergers, acquisitions and such, that company remains as Lab Corp. (It performs more than 1 million tests on more than 370,000 specimens each day.)

What opportunities for professional growth did you have over the years?

JB: Through taking a lot of continuing education coursework, I became proficient and qualified as a general supervisor in clinical chemistry, toxicology, hematology, parasitology, microbiology, serology—everything except for tissue work like histology and cytology, which was done by certified medical experts in those specialties. My interests kept me in touch with the staff pathologists, however, as well as all the rest of the laboratory. Though my present-day field did not exist at the time I graduated, by staying current I was able to benefit from the changes and be part of an emerging valuable service provided not only to the medical community but also to the forensic one, and the general population at large.

What are some famous cases you’ve been involved with . . . that you can talk about?

JB:  Actually, that’s my problem. We’ve been involved in a number of high-profile cases, but we’re not allowed to talk about any of them. Most have been on the forensic side, serial killer trials in Arizona, also in California, some that made the news in Florida . . Texas . . .Georgia.

Were you involved in catching the Grim Sleeper?

JB:  Actually, that’s an ongoing case in Los Angeles we are familiar with, but we didn’t do the work on it, so we can talk about that one. The importance of the Grim Sleeper case has to do with familial testing and autosomal DNA. It was termed the Grim Sleeper case because there were a number of homicides that took place beginning in the mid-1980s, all with the same basic MO [modus operandi], and then the murderer went underground for fourteen years. The victims were typically prostitutes shot with a firearm. In 2010, a suspect, Lonnie David Franklin Jr., 57, was arrested and charged with multiple counts of murder. He has not yet been convicted, nor the evidence against him tested in court.

How was DNA used to catch him?

JB: So here were a number of cold cases, but they were being tracked, and the law enforcement authorities in Los Angeles continued to monitor progress. The sole survivor of one of the Grim Sleeper’s attacks furnished a description of him as a black man in his 30s, along with other details. According to her story in the press, he lured her into an orange Ford Pinto, shot her in the chest with a pistol, took Polaroid’s and raped her, leaving her for dead. In 2008, the body count was thirteen, and a $500,000 reward was put out for “America’s Most Wanted.”

It became the first use in California, and one of the first three cases in the United States, of the use of familial DNA searching, that is, using the FBI’s CODIS database to match one family member’s profile with a suspect’s profile. The LA police were able to provide a close partial match to  Franklin’s crime scene profile with that of his son, whose CODIS markers were on file for a minor crime. They then set up a kind of mini-sting operation at a pizza parlor in Buena Park, where they knew the family liked to eat. Undercover detectives masqueraded as waiters and busboys. When the family left, they whisked away an unfinished pizza slice. The crust yielded DNA which police linked on a more solid basis to Lonnie Franklin. It was the first high-profile case in which a family member’s DNA had been used to catch a criminal. The ACLU and others had been critical of familial searching on grounds of privacy, and there is still a lot of debate over familiar searching because it might open up the search and include those who hadn’t committed any crime.

Did this help produce new commercial products like the “cousin finders”?

Only a few states are doing familial searching, and they are pretty guarded about it. It’s hard for me to make a connection. Certainly, these developments have been concentrated in the past three or four years, but the use of this technique is spreading.

Are people legitimately suspicious about DNA databases?

JB: Fears surface from time to time. There have been claims that keep popping up that someone’s going to take everything that’s in the database and use it to determine genetic deficiencies that could lead to medical issues down the road. Once it was speculated that if such  information was released, insurance companies would begin denying people coverage based on their profiles.

This is the mother of conspiracy theories, isn’t it?

JB:  It really is. For the most part—not for everyone—the vast majority of the markers we are using are in the “junk DNA” area. That is, they don’t by themselves “do” anything or give you genetic information on the face of things. There may be one or two markers that possibly could be construed as yielding some medical information—such as a trisomy at vWA or TPOX [a CODIS locus]. But by and large, you are not going to be able to do any medical diagnostics with the markers we run. Usually trisomies such as Down’s syndrome would be physically expressed and not hidden. It’s a little different with SNP panels [single nucleotide polymorphisms] such as those run by 23&me. With a high number of those, it’s entirely possible to predict medical predisposition. That’s what they base their business on.

Let’s talk some more about the CODIS database.

JB:  It’s important to realize that even law enforcement doesn’t provide much access to the CODIS [Combined DNA Identification System] databank. That’s something I have to give the FBI credit for. They have developed a system that is secure. It’s the DNA administrator at each facility who has undergone FBI training and uploads the data under very strict rules, and they are notified of any “hits” that involve them, but otherwise there is very little access, and the use of the database is very even across the country. There are not a large number of portals that can be used to access the CODIS database. There are several hundred law enforcement laboratories that are running profiles across the country, and the database is best thought about on three different levels:  LDIS, SDIS and NDIS, local, state and national versions. Between our labs in Phoenix and Virginia, we’ve tested over a million profiles for entry into CODIS. That’s about one-tenth of the entire number. I can tell you there is tight security. Hundreds of thousands of investigations have been aided by a DNA hit (we don’t like to say “match” so much, because statistically nothing is 100%) generating a lead.

How did you get bitten by the genealogy bug?

JB: I’ve always been fascinated with ancestry. I think it came about because my father took an interest in discovering our family’s roots and had to do so at the time by traveling to Salt Lake City, Utah, and poring over whatever records he could find there about our fathers, and great-grandfathers, and great-great-grandfathers, and so forth. He had tintypes of some of the relatives. We had various pieces of the puzzle. My father pretty much consolidated everything back to William Bentley, who settled in Rhode Island in the early 1700s and had come from Bedfordshire, England. He put together a book for family use. He glorified a few of them and left a few out that weren’t ready for glorification. For the sensitivity of some of the relatives, he left a few details out, but it was a pretty solid piece of work. For me, it kind of fostered this interest in ancestry and its importance. Certainly, when I started at Chromosomal Labs • Bode Technology, we started looking at the various tools that could be used. Our history, to be sure, is passed down from generation to generation. Initially, we were using mitochondrial DNA, Y-SNP’s and Y-STRs and then autosomal STRs to determine how we’re connected to general and specific individuals back to the Revolutionary War days and how you are linked with the world population, what your roots were. I have a particular Y haplogroup of G2a, which is not one of the more common ones.

Hmm . . . you and Joseph Stalin.

JB:  [Laughs]. Is that what his haplogroup was? Uh-oh! He was one of the worst. Well, I got interested in G2a and hooked up with about 50 other Bentleys and we identified our founder  patriarch haplotype. I get emails from them on a regular basis. The other thing we tried to find out was what in the world were all these G2a’s doing in England. I don’t know. But one of the things I find in the literature most often was that the Sarmatians were horsemen that gave the Romans a pretty rough time. Eventually, they were decimated. The Romans took their remaining cavalry and pressed them into service for 12 to 13 years or longer. Some were dispatched to Hadrian’s Wall. Now do I know for a hundred percent certainty that’s where I came from? No, but its fun to regard that as a hypothetical personal history.

You have a Scythian gene, don’t you?

JB:  Yes, I do according to the analysis DNA Consultants did for my autosomal ancestry. The work Dr. Yates has done on the rare alleles supports a lot of the stuff the family has been putting together for years and years.  I was very pleased to get my Rare Genes from History report back showing I had the Scythian gene. That seems to go along with the Sarmatian theory about the Bentleys.

How do you see the industry changing over the next few years?

JB:  I can speak best about changes I am seeing in the field. They’re getting closer to having rapid DNA testing on a chip. This gives flexibility to those who want to use DNA as “point of use” testing. The FBI this past year came out at the Promega conference and said that within the next two years they would like to see wide adoption of “point of use” testing. The IntegenX prototype allows you to put your swab into a cartridge, insert it into the instrument on the fly and get your STR results in a few hours. Previously, Rapid DNA testing was not only time-consuming and lab-bound but it was very expensive. It cost several hundred dollars in reagents alone. As the technology improves to allow 2 hour testing in our lab or on a chip, reagent and personnel time continue to drop,  Now, the FBI would like to see point of use testing in every booking station in the country. At the last show, I also saw an instrument from Illumina that would run Y-STRs, mtDNA and autosomal DNA profiles simultaneously on one sample. Another change that is coming is we will see an expanded profile becoming the standard, perhaps something similar to the GlobalFiler kit from Life Technologies with its 24 loci. With the new technology you can increase the speed for amplifying the specimen by five times and achieve nine times the discriminating power or resolution.

Any final remarks?

JB: The DNA testing field is on the threshold of even greater accolades of appreciation both from the scientific community and the public. If DNA wasn’t even in anyone’s mind twenty years ago, soon it will be part of everyone’s daily lives.

 
























Sir Alec Jeffreys, inventor of DNA fingerprinting, and Jim Bentley at forensics meeting.

Genome-wide data substantiate Holocene gene flow from India to Australia

We are our DNA. It was not a surprise to find that our entire DNA is Functional (“Junk DNA Isn’t Junk, and That Isn’t Really News”). The surprise is in the discovery of what we can do with what we once thought was junk. According to that recent NPR article, “It is a massive control panel that regulates the activity of our genes.” Our genes “would not work” without it. So instead of being junk- they are critical and “control how cells, organs, and other tissues behave.” But we can also now read the markers and mutations on this “panel” and discover much more information than knowing it is just working efficiently for our body. This knowledge is considered a “major medical and scientific breakthrough” (Ibid.). We just have to read it well.

But first, what is DNA exactly? John Wilwol, in his recent NPR article, “A ‘Thumb’ on the Pulse of What Makes Us Human,” quotes Sam Kean, author of the book, The Violinist’s Thumb And Other Lost Tales of Love, War, and Genius, As Written by Our Genetic Code, as saying that DNA is what makes us who we are. Wilwol further quotes Kean to help us understand what DNA is and how it differentiates from genes: “ ‘While DNA is a thing- a chemical that sticks to your fingers, he writes, genes are more conceptual in nature, …“‘like a story with DNA as the language the story is written in.”

So if DNA is a language how are we able to read it? All parts of our genetic code are now readable and meaningful. Marker locations (loci) are spread across one’s entire genome, not confined to one’s male (Y chromosome) or female (mitochondrial) DNA. (This is how sex-linked, haplotype tests that follow one line at a time are analyzed). Different mutations are handed down genetically – different according to the region where one’s ancestors lived.

Because of this new ability to read markers, consumers are now able to buy Autosomal DNA tests that provide a complete analysis of where all one’s ancestors’ ethno-geographic origins – reflecting the entire spectrum of all ancestral lines. Not just one line at a time as in haplotype testing. This is next generation ancestry DNA testing and the wave of the future. Anyone can take an Autosomal DNA test because it does not rely on X or Y chromosomes (women are unable to take the Male Y- linked test and must entice a male in her line, if one is available, to take this test). The future is now in many ways.

What else can you learn from Autosomal DNA testing? Anne Tergesen, in a recent article in the Wall Street Journal,” quotes Megan Molenyak, author of, Hey America, Your Roots Are Showing, as saying that this relatively new test deciphers the amount of DNA shared between those whose common ancestors lived within the last half-dozen or so generations. Tergersen explains it like this, “Y-DNA and mitochondrial DNA can connect people whose common ancestors lived recently or hundreds of years ago. But to find out how closely you are related—and to locate relatives besides those on your direct maternal or paternal lines—you will need an autosomal DNA test.” (Of course, you would both need one to compare) and “in general, the more DNA two people share, the closer their connection”.

But there are even more things on the horizon with Autosomal DNA for the future. Personalized Medicine. According to a recent Smithsonian article, “Fetal Genome Sequenced Without Help From Daddy,” “A fetus’ entire genome can now be sequenced” from the mother alone with a “99.8% accuracy.” How is that possible? It was just “last month clinicians announced that they could sequence a fetus’ entire genome by taking samples from the pregnant mother’s blood and that of the father to be” (“Fetal Genome”). Now they have a “more difficult, but more complete method [that] uses DNA from the pregnant woman and the fetus to map out every last letter of the fetal genome…with the advantage that it can pick up mutations that a fetus has but its parents do not” (Ibid.).  Rob Stein quotes Dr. Alan Guttmacher, director of the National Institute for the Child Health and Human Development in a recent NPR article, “Genome Sequencing For Babies Brings Knowledge and Conflicts,” as saying, “Instead of screening for currently something like 30 conditions, it would allow you to screen for hundreds if not thousands, [of conditions] at birth.  He goes on to say that, “One could imagine a day where knowing someone’s entire genome sequence at birth, you could really begin to think about structuring health care, their dietary choices, their exercise choices…early in life, in a way that would have an impact on truly lifelong health.” Stein says that this gene sequencing could “spot babies that are prone to conditions such as obesity, diabetes, heart attacks or cancer” and that we may soon be “sequencing all babies when they’re born.”  It could be a wonderful tool. But we are not there yet.

According to Rob Stein in another recent NPR article, “Perfection is Skin Deep: Everyone has Flawed Genes,” Scientists have determined we are all more flawed than they thought. “Researchers discovered that normal, healthy people are walking around with a surprisingly large number of mutations in their genes.” Chris Tyler-Smith of the Wellcome Trust Sanger Institute in Cambridge, England and his colleagues analyzed the DNA of 179 people from several countries who volunteered their genetic information to the 1,000 Genomes Project.

In a published paper in the American Journal of Human Genetics, the researchers reported that though none of the people whose DNA was studied were sick, the average person has about 400 minor flaws and one or two that could contribute to disease. Tyler-Smith says, “It’s a bit surprising that people should be walking around apparently healthy yet we’re seeing known disease-causing mutations in their genomes,” he says. “But the answer was that these tended to be for mild and very often late-onset conditions. Things like heart disease, an increased risk of disease or developing cancer. On its website, the American Diabetes Association highlights the interaction of genetic and environmental factors: “You inherit a predisposition to the disease then something in your environment triggers it. Genes alone are not enough.”

So the problem is not so much with the analytical tool but rather the possibility of over- interpretation. Again, we just have to read it well, with the same critical eye for what is written in us as that which is written by us. And who knows what else we will soon be able to discover from reading our DNA?

DNA, not Gothic literature, has all the best stories and tales of murder and intrigue. According to Sam Kean, author of The Violinist’s Thumb: And other Lost Tales of Love, War, and Genius as Told by Our Genetic Code, “ …Somewhere in the tangle of strands are the answers to many historical mysteries about human beings that were once thought lost forever.”  Kean says each one of us has”… enough DNA to stretch from Pluto to the sun and back,” and “…every human activity leaves a forensic trace in our DNA” and the story that DNA tells, Keans says, “…is a larger and more intricate tale of the rise of human beings on Earth: why we’re one of nature’s most absurd creatures, as well as its crowning glory.” We just have to know how to read the story and solve the mystery. Like the one about the French Revolution and King Louis XVI.

Victor Hugo’s classic novel about the French Revolution, Les Miserables, has been given a facelift for a modern audience to ponder over popcorn in the theater.  Or discuss at a local café or bookstore over cappuccino. But few of us would imagine that scientists have had any interest in the French Revolution. We would be wrong if we did, and it is a gruesome tale of the intersection of science and history in this case.

Phillipe Charlier, a forensic scientist, dubbed the “’ Indiana Jones of the Graveyards, ‘“according to the recent Abroad in the Yard article, “DNA Analysis Links Blood of Louis XVI, Beheaded in French Revolution, and Mummified Head of His Ancestor Henri IV,” by Tom Martin Scroft, has linked blood stains in a decorated squash gourd to the mummified head of King Henry IV. There was once a handkerchief, according to the article, that had been “in the possession of an Italian family for over a century” in an “ornate calabash gourd” that had been “dipped in the [beheaded] blood of King Louis XVI” by a Maximilien Bourdalou.mAccording to an earlier Discovery News article by Jennifer Viegas, “Royal Blood May Be Hidden inside Decorated Gourd,” the handkerchief “is now missing.” Most certainly it has “decomposed” by now as David Blair suggests in his recent article, “Louis XVI Blood Mystery Solved.”  Viegas also says the ornately decorated gourd was “dated to 1793” and that the dried squash reads, “Maximilien  Bourdaloue on January 21^st, dipped his handkerchief in the blood of Louis XVI after his beheading.” Why he would have done such a thing?  For a bloody relic no doubt.  What  a coffee table conversation piece. Viegas quotes Carles Lalueza Fox, “lead author of the study and a researcher at Spain’s Institute of Evolutionary Biology,” as saying that the act was common: “In fact, many people went there to dip their handkerchiefs in the blood.” How gruesome. But linking blood found in the Italian family’s gourd to King Louis XVI?  It took DNA analysis to validate that tale.

How was that done? In careful steps. First, according to Fox (qtd by Viegas) her team had to identify the “brownish substance” inside the squash as “dried blood.” Later, Fox remembered that the King had “blue eyes” and he identified the genetic marker for the “blue eyes mutation.” But that is a long way off from identifying it as the blood of King Louis XVI. The researchers also analyzed its mitochondrial profile and its Y-Chromosome profile and they found the “’DNA profile [before they had a match]…was rare among Eurasians’” which “suggest[ed] that it [might] derive from a royal bloodline.” But Fox knew that they had to have “ ‘someone’” for comparison. They first thought of the “[pickled]heart located in a royal French crypt thought to belong to the King’s son, Louis XVII.”  It is beginning to sound like a tale from Edgar Allen Poe.

But they didn’t use the heart after all. They discovered the mummified head of King Henri IV, who ruled France from 1589 until 1610, which had been “shuffled between private collections ever since it disappeared during the French Revolution,” according to Marie Cheng’s AP article, “Scientists ID Head of France’s King Henry IV.” (According to the article, “Henry IV was buried in the Basilica of Saint Denis near Paris, but during the frenzy of the French Revolution, the royal graves were dug up and revolutionaries chopped off Henry’s head which was then snatched.”) I don’t suppose the head was in such great condition after all this shuffling about, but it still turned out to be useful. 

With that mummified head, DNA analysis has “solved a mystery that has lasted for almost 220 years,” according to Blair. He quotes a new study in the current issue of Forensic Science International as saying that the comparative analysis with the mummified head of King Henri IV confirms the connection by “…establish[ing] that Henri possessed a rare partial “’Y’” chromosome” and Louis, a “direct male-line descendant, separated by seven generations,” [had] this same Y chromosome. Along with “other [genetic] matches,” the study concluded that “…historically speaking, this forensic DNA data would confirm the identity of the previous Louis XVI sample.”

And you thought scientists were boring. Another DNA mystery solved.

The question of ancestry has been of human concern in virtually all cultures and over all times of which we have any knowledge. Whether it be a story about the origin of a particular tribe or nation and its subsequent mixture with other groups, or curiosity about a family history, there is always the implication that we understand ourselves better if we know our ancestors and that we, within ourselves, reflect properties that have come to us by an unbroken line from past generations. As treasurer of the Marlboro Historical Society in Vermont, I am the recipient of requests for printed copies of the Reverend Ephraim Newton’s mid-eighteenth-century history of our town, 70 percent of whose pages consist of “Genealogical and Biographical Notes” and a “Catalog of Literary Men.” Over and over our correspondents write of the “pride” they have in descending from these early settlers.

Surely pride or shame are appropriate sentiments for actions for which we ourselves are in some way responsible. Why, then, do we feel pride (or shame) for the actions of others over whom we can have had no influence? Do we, in this way, achieve a false modesty or relieve ourselves of the burdens of our own behavior? As a descendant of late-nineteenth-century Eastern European immigrants I cannot depend on Reverend Newton’s pages to explain my frequent contributions to The New York Review, but neither have the extensive “begats” in Genesis 10 or Matthew 1 been more enlightening.  Read More...

New Center is Hiring

The University of North Carolina at Chapel Hill dedicated its new Genome Sciences Building on University Day, Oct. 12, 2012, a major event in the increasingly interdisciplinary world of genome science. Located at the geographical center of campus, the Genome Sciences Building has an overarching goal: to foster collaborations at the intersection of different disciplines – and in every way, it is designed to do just that, according to the university.

“Proximity is really important in a busy world,” says Jeff Dangl, Howard Hughes Medical Institute investigator and John N. Couch Professor of Biology. “The explicit concept of this building is let’s hire new people at the interface of all of our traditional disciplines. Let’s give them a home – or at least a foothold – here in this building and see what comes of it in terms of generating new synergistic science.”

Symbolically, the building's footprint lies on the border between the College of Arts and Sciences and the five health affairs schools, where basic research meets clinical applications. Researchers from departments as diverse as biology, chemistry, computer science and statistics have opportunities to interact with each other in the building and are very closely located to colleagues in the schools of medicine, pharmacy, nursing, dentistry, public health, and information and library science.

DNA Consultants' founder and chief research officer, Donald Yates, has a Ph.D. from the University of North Carolina at Chapel Hill. We applaud the new center's interdisciplinary mission and bridging of sciences including the campus' traditional strengths in statistics, computer and library science.

In 2012, UNC rose to 9th in the nation for federal funding devoted to research and development. The current level of $546 million during fiscal 2010 is spread among all fields and puts the university fourth among public campuses in the country. 

One of the projects supported by such research was the Cancer Genome Atlas program led by Carolina's Charles Perou, professor of molecular oncology. Perou's team published their work in the journal Nature and opened the way to personalized treatment of breast cancer, as widely reported in the media, including the front page of the New York Times. 

Behind the Numbers:  Elizabeth Hirschman

  (Part Two of a Series)

We interviewed Rutgers marketing professor Elizabeth Caldwell Hirschman, author of several books and articles incorporating DNA in her research, to hear her personal story in our continuing series about the people behind the scenes in the field of DNA testing.

Elizabeth Hirschman with MBA students at Rutgers in December 2009.

When did you first get interested in DNA?

ECH: I got interested in DNA testing around 2000 when I discovered I was Melungeon after reading Brent Kennedy's 1994 book. Brent suggested several different ancestries that possibly contributed to the Melungeon population and I wanted to find out which of these were correct and which ones I had. I already suspected Jewish ancestry because of the naming patterns in my family over the past 300 years, as well as some of their habits --e.g., not eating pork, getting married in a home instead of a church, cleaning house on Friday afternoon, no eggs with blood spots, washing all meat, etc. We also had some genetic anomalies -- shovel teeth (sinodonty), palatal tori and large rear cranial extensions, as well as polydactylism.

Tell us more.

ECH:  Over the course of the past decade I have been found to have Native American, Spanish, Ashkenazi Jewish, African, Mediterranean and Gypsy/Northwestern India ancestry. My Dad turned out to have substantial Gypsy and African ancestry. He and I share a large cranial rear extension that I believe likely comes from the African ancestry -- the photos I have seen of the !Kung Bushmen look just like our head shapes. My Mom has Native American and/or Sino-Siberian ancestry. She also possessed the Asian teeth and palatal tori found in this group.

You've written several books and articles with Donald Yates; how did that come about?

ECH:  We shared ancestry from the Coopers, a prominent pioneer family in Daniel Boone’s time. In 2000, I wrote him out of the blue when he was a professor in Georgia and introduced myself and asked if possibly the Coopers were Jewish. We began to correspond by email. I told him I was sure one of the reasons I was working so hard to figure out the Melungeon story was because I had to figure out who I am. “Up until last year,”  I remember telling him, “I thought I was Scotch-Irish, English , white and Presbyterian.” It was a big transition to Sephardic, brown and Jewish. It turned out that we were distant cousins and had numerous links in our Melungeon ancestry.

What was a typical publication?

ECH: One article was called “Suddenly Melungeon! Reconstructing Consumer Identity Across the Color Line.” This was published by Routledge in 2007 in a handbook on consumer culture theory edited by Russell Belk.  

How did the Jewish findings play out?

ECH:  On a personal level, both Don and I, as well as his wife Teresa, returned to Judaism, he and Teresa in Savannah and I in New Jersey. On a professional level, we started the Melungeon Surname DNA Project, which focused on Scottish clan and Melungeon surnames (i.e., male or Y chromosome lines), and later included Native American mitochondrial DNA.  Initially, many people in the genetic genealogy community were frustrated that the incoming Jewish DNA results were not originating in the Middle East, as they had strongly believed and hoped, but were showing a lot of Khazar, Central Asian, Eastern European and Western European/Spanish/French input.

Can you elaborate?

ECH:  Critics were not happy that DNA was proving a wider and more inclusive picture of the Jewish people. Where Don and I have performed a service, I believe, is by just following the DNA trail and accepting new findings (e.g., the Gypsy/Roma) when they come in, instead of clinging to an a priori theory/belief/wish, for instance, the claim of a Middle Eastern origin for the majority of Jews.

What tests have you ordered from DNA Consultants?

ECH: I ordered every test as they became available over the years, first the Y chromosome and mitochondrial or male-line and female-line tests and later the autosomal or DNA fingerprint tests that analyze your total ancestry.  I helped organize the first autosomal Melungeon study by contributing samples from my mother and brother and obtaining samples from well-known Melungeons like Brent Kennedy and his brother Richard. Increasingly, our testing took on the aspect of a family group study. For instance, I was able by comparing multiple results from relatives to reconstruct my father’s ancestry quite satisfactorily, even though he died many years ago. I took the Rare Genes from History for all available family members. There is a streak of the Thuya Gene and First Peoples Gene in all of us, as well as the Sinti Gene (which is Gypsy), while my brother Dick got our father’s Khoisan Gene, which is African. Incidentally, it has the same source as the !Kung people and head shape I mentioned before.

If you had H. G. Wells' time machine where would you go?

ECH: I would love to be able to visit my ancestors and see what they looked like, where they lived, how they lived and learn how they got to Appalachia from such disparate parts of the world. I wish I could talk with them. My project now is to visit all the places they are known to have come from and see what the architecture, climate, food, and people are like. That is about as close to "meeting" them as I will be able to get. So far, I’ve traveled to Scotland, Ireland, Wales, England, Spain, Tunisia and Morocco on the trail of my Sephardic Jewish ancestors. I am trying to get to the Silk Road to see Central Asia, Turkey and Northwest India in the near future.

Were Neanderthals capable of creating art? The idea seems shocking to us. After all, we learned in school that these were brutish savages without higher thinking and symbolic thought or expression. The picture of a Neanderthal making hand prints in Spanish caves or making shell necklaces is odd indeed because art is largely “considered evidence of sophisticated symbolic thinking, [and] has traditionally been attributed to modern humans, who reached Europe some 40,000 years ago” according to the recent Wired Science article, “First Painters May Have Been Neanderthal Not Human.” (Left:  Panel of Hands in the El Castillo Cave, Spain, dated to 37,300 years old, photo by Pedro Saura.)

A recent Daily News and Analysis article, “Neanderthals Learned to Make Jewelry and Tools from Modern Humans, “ says an international team from the Max Planck Institute in Germany suggests there was a “cultural exchange” between the two species and there is evidence that Neanderthals “learned how to make jewelry and sophisticated tools” from the early ancestors of humans. The reasoning behind this is based on the fact that artistic relics were found near Neanderthal remains but the artwork was “clearly” indicative of human hands. So the conjecture is that it must have been learned.

Whether this is true or not, Neanderthals were creative.  According to Kate Wong, in her recent Scientific American article, “Oldest Cave Paintings May Be Creations of Neanderthals , Not Modern Humans,” according to archeological evidence, Neanderthals  not only wore feathers but “painted their skin” and “made jewelry from teeth and shells.”

 
But was their artistic expression learned? There are those that do not think so. According to Eric Wayner, in a recent Smithsonian article, “Do Feathers Reveal Neanderthal Brain Power?” Neanderthals wore feathers as personal adornments which showed them to be “capable of symbolic expression.”  And Wong says, there are Spanish and French caves thousands of years old with cave paintings long thought to be the artwork of early humans that are now thought to be the work of Neanderthals. Why? She says because of recently refined techniques of radiocarbon dating, that these paintings are “significantly older” than once thought. In fact, some may be older than the date when the first humans arrived in Europe around 41,500 years ago. When there were thought to be only Neanderthals.  “A large red disk” on one of the Spanish caves, El Castillo, is “at a minimum 40,800 years old, making it some 4,000 years older than the Chauvet paintings which were previously thought to be the oldest in the world.”  This and a “stretch of limestone wall with dozens of hands” in the same cave are both thought to possibly be the handiwork of Neanderthal painters because the “estimates” are considered to be at best a conservative “minimum.” According to Ker Than, in the recent National Geographic Daily News article, “The new dates raise the possibility that some of the paintings could have been made by Neanderthals who are thought to have lived in Europe some 30,000 or 40,000 years ago.” 

So if Neanderthals were painters where did they get their creative expression if not from humans? Wong says that both “modern humans and Neanderthals might have inherited their capacity for symbolic thinking from their common ancestor.”  And she says, if that is the case, “the roots of our symbolic culture go back half a million years.”