In 2009, we added six tools to 23andMe Labs, our technology sandbox where we showcase experimental features. In case you haven’t played around with them yet, here’s a brief review:

Health Labs

Reynolds Risk Score
This tool calculates a 10-year risk for heart-attack using information including cholesterol and blood pressure.

ABO Blood Type
There actually are more than 25 different blood groups that go into determining your particular “type,” but you’re probably most familiar with the blood group determined by the ABO gene. This is the gene that determines whether you will be type O, A, B, or AB.

Genetic Weight Calculator
See how much of your weight you can blame on your genes (not your jeans)!

Ancestry Labs

Haplogroup Tree Mutation MapperThis feature shows you which particular mutations in a person’s mitochondrial DNA (maternal ancestry) or Y chromosome (paternal ancestry) were used to determine their haplogroup assignment.

Family Inheritance: Advanced
Compare your DNA, bit by bit, to see what segments you share with close and distant family.

Native American Ancestry Finder
Search for evidence of Native American ancestry in a person’s genome.

Customers who have purchased the Complete Edition of our service have access to both Health and Ancestry Labs. Customers with either the Health or Ancestry Editions of 23andMe have access only to the Labs relevant to the data they have received.

The point of Labs is to let you, our customers, play around with cutting-edge tools while our scientists are still developing them.  What can we say?  We’re super excited about genetics and we love to share!  Each Lab has its own community so you can compare notes, ask questions and share ideas.  We love to hear your ideas and comments!

But please remember, Labs are a free feature that is not part of our regular service.  Some labs require specialized knowledge or may be of interest only to a subset of our customers. Because they’re still in development, you can expect labs to be a little less refined than our regular product, and somewhat fluid as well. All of them are still in beta.  A feature could be discontinued at any time, or it might be elevated to full integration with our Personal Genome Service.

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There are over 50,000 people in North America who define themselves as Hutterites, though you probably have never met one. One of the main branches of the Anabaptists, Hutterites live in self-sustaining communities throughout the rural northwestern United States and Canada.

Like their sister branches, the Amish and the Mennonites, the history and culture of the Hutterites have long fascinated scholars. But there have been few forays into the genetics of this unique community — until now. In the October 21 issue of the European Journal of Human Genetics, geneticist Irene Pichler and an international team of experts set out to unravel the genetic history of the Hutterites.

The history of the Hutterites goes back over 500 years, to a stretch of land in northernmost Italy called Tyrol. It was here that a small group of people, led by local hatmaker Jakob Hutter, formed a religious community centered on absolute pacificism and communal living. The Hutterites, as they came to be known, were part of the Radical Reformation, which rejected the teachings of both the Roman Catholic Church and the more moderate Protestant movement.

Due in no small part to their adherence to pacificism, the Hutterites soon became victims of persecution and expulsion. They moved several times to new settlements in central and eastern Europe. Their numbers dwindled significantly. By 1755, only 67 Hutterites were living in Transylvania.

By 1874, the Hutterites had had enough, and over 1,200 departed Europe for the rich farmland of western North America. They settled in present-day South Dakota, setting up several colonies. Today they are living much as they were upon their arrival in both the United States and Canada.

The Hutterites’ distinct and well-documented history over the past several centuries could make for an equally unique genetic history. Would traces of their history be etched in their genes? This is exactly what Pichler and her team sought to find out.

Pichler’s team focused on two segments of the human genome: the mitochondrial DNA and the Y chromosome. Because mitochondrial DNA (mtDNA) is passed down along the mother’s line, and the Y chromosome is passed down along the father’s line, the team could use both to paint a detailed picture of the Hutterites’ genetic history. The research team also analyzed DNA from several Central European groups for comparison, as central Europe is the Hutterites’ ancestral home.

Pichler proposed that the same constant reductions in population size that continually plagued the Hutterites, must also show up in their DNA. And that is exactly what happened. Among all the Hutterite DNA samples analyzed, the authors found only 11 distinct types of mtDNA (called haplogroups), and only 10 distinct Y-chromosome haplogroups. In other words, the Hutterites’ ancestral maternal and paternal lines trace back to just 21 individuals. This is an extremely small number of founders, and is further evidence that the large drops in Hutterite population size over the centuries are found in their genes.

Pichler and her team further discovered that the haplogroups among the Hutterites are vastly different from those found among central Europeans. For example, 30 percent of Hutterites belonged to a single haplogroup called X2c1 — which is virtually absent in Europe. This shows that even while the Hutterites lived in Europe, their genetics were vastly different from their non-Hutterite neighbors.

Centuries of isolation from the rest of Europe, followed by their massive migration to a new continent and continued isolation, have clearly defined the Hutterite people. And this study has revealed the history and genetics of this community as one of the most unique in North America.

Photo courtesy of Wikimedia Commons.

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The Near East – a swath of land that encompasses the Arabian Peninsula, the Levant, and everywhere in between – has been populated by humans longer than anywhere else in the world save Africa. It is where agriculture was born and spread into Eurasia. It is where the ancient civilizations of Mesopotamia and Egypt evolved and flourished. And it is where a particular paternal haplogroup, J1e, arose about 10,000 years ago.

Paternal haplogroups define a person’s all-male ancestry (i.e. the origins of your father’s father’s father, etc.), and are passed down from father to son via the Y chromosome. Haplogroup J1e has long interested experts because it seems to have expanded and flourished in the harsh deserts of Arabia. Today it is quite common among Bedouin nomads from Saudi Arabia, United Arab Emirates, and Oman, as well as in men from Turkey, Ethiopia, and the Levant.

In 2008, scientists at Stanford University proposed that the presence of J1e throughout the Near East could be tied to the nomadic hunter-herders who have dotted the region for thousands of years. In the October 14 issue of the European Journal of Human Genetics, these same scientists – including 23andMe consultants Roy King and Peter Underhill and 23andMe scientist Brenna Henn – test this theory with a little help from the field of linguistics.

The authors analyzed the DNA of more than 500 men from nearly 40 locations throughout the Near East. While many of these men belonged to haplogroup J1e, there were small genetic variations within J1e based on exactly where these men lived. For example, J1e samples from Turkey were slightly different from those in Oman.

When the authors examined differences among the ancient peoples of the Near East, they discovered that the languages spoken in different parts of the region were quite distinct. Until the Arabic swept across the Near East more than 1,000 years ago, there were dozens of languages spoken in the region: Aramaic in Syria, Babylonian in Iraq, and Canaanite from Lebanon to Jordan. The majority of these tongues are now extinct, but all belong to the same Semitic language family, to which Hebrew and Arabic also belong.

The authors reasoned that the history of these ancient languages may be tied to that of the people who spoke them. The history of these ancient people could be deciphered further by examining their genetic ancestry via paternal haplogroup J1e.

The researchers’ combined analysis of the J1e types and the ancient Semitic languages revealed some startling results. The authors found that J1e arose in Anatolia (present-day Turkey), expanding southward toward Arabia 10,000 years ago.

Limited archaeological evidence supports such an expansion, when hunter-gatherer groups, using bow-and-arrow technology and with the help of domesticated dogs, headed south into the heart of the Near East. Soon after they began expanding, the hunter-gatherers took up herding, domesticating animals like cattle and goats.

The linguistic evidence lends additional support. The common ancestor of all Semitic languages, called proto-Semitic, originated about 7,500 years ago, just as J1e was expanding. More importantly, the spread of proto-Semitic coincides with the spread of hunter-herders across the Near East.

So what does all this mean? The expansion of haplogroup J1e is closely tied to the expansion of the Semitic languages. And they are both linked to the expansion of hunter-herders, who journeyed from Anatolia southward into Arabia thousands of years ago. We now know just a little bit more about the ancient history of this fascinating region.

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Science is dynamic and ever changing. As new research is published, theories get revised, and hypotheses retested. The field of genetic ancestry is no exception: The flurry of published research just in the last five years has been staggering, and we can now piece together the histories of many groups from nearly all parts of the globe. At the same time, a worldwide community of genealogists has seized upon this wealth of published research, combining it with their own genetic data to produce an even richer, more detailed human history.

We want our customers to have the most current information possible, so our scientists and engineers have spent the last several months updating the paternal lineages, or haplogroups, for all of our (male) customers. This has been quite a task, involving many layers of analysis and quality control to meet our standards of precision and accuracy.  The end result is a more detailed understanding of paternal ancestry for our customers.

The New Tree

Customers can find the 23andMe paternal haplogroup tree on the paternal line feature page.  It lays out the specific haplogroups for populations around the world, how they are related to each other, and how all men alive today can trace their paternal ancestry back to one individual who we refer to as the PoP (Poppa of all Poppas).  The organization of this tree is derived from more than 2,000 variable genetic markers, known as SNPs, on the Y chromosome. The particular combination of SNPs a man has determines which haplogroup his Y chromosome belongs to.

Finding the Right Tree

Over time enough additional SNPs are discovered, and there are enough revisions to the organization of other researchers’ Y haplogroup trees, that we must give our own a face lift to keep up. We used a variety of sources as a basis as we developed our new paternal haplogroup tree. We examined the published literature and spoke with experts in the field of Y chromosome genetic ancestry.  Perhaps most importantly, we used the wealth of information gathered from the International Society of Genetic Genealogy (also known as ISOGG).  This non-profit organization is run by genealogy enthusiasts who are passionate about discovering their family history through genetics. These enthusiasts, many of them 23andMe customers, have sifted through mounds of genetic data, both from the published literature and their own genetic profiles. The fruits of their labor are collected and organized in a haplogroup tree that is regularly updated at a high level of detail. ISOGG exists and prospers because so many genealogists are working together for a common goal.

We have worked primarily with the December 2008 ISOGG paternal haplogroup tree as a basis for updating our own.  Even since then, some paternal haplogroups been updated significantly.  So for these rapidly evolving haplogroups, we used the May 2009 ISOGG paternal haplogroup tree as a reference. The end result is a very detailed and up-to-date paternal haplogroup assignment for each of our male customers.

Your Paternal Haplogroup

What does this update mean for our customers?  For many it means a change in their haplogroup assignment. That change may be slight, or it may be more substantial.  For other customers it means no change at all.  When examining your new paternal haplogroup, it is likely you will see one of the following differences:

1) A more specific assignment:  Because the new paternal haplogroup tree examines many more SNPs than the original, we are able to give our customers more precise assignments. As a result, it is possible that your new haplogroup assignment may be longer and more specific than the original.  For example, customers who were assigned haplogroup J2a1 will now be reassigned to haplogroup J2a1a.

2) A more specific and slightly different assignment:  This category of change is by far the most common affecting our customers, because the organization of the haplogroup tree has changed. Therefore someone’s new assignment may look similar to their old one, but it will be longer and/or slightly different. For example, a customer who was assigned to R1b1c may now be reassigned to R1b1b2.

3) A completely new letter assignment: This is the rarest of the changes that will likely occur, and is also due to a reorganization of the paternal haplogroup tree over the past few years. For example a customer currently classified as K2 will now be reassigned to haplogroup T.

It is important to note that your ancestry has not changed, only your haplogroup assignment. But because this update has allowed us to define many more haplogroups than we had originally, we can give even more specific information about our customers’ paternal ancestry.  In the coming weeks, we will be updating the summary pages for our haplogroups with this additional genetic history.

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It seems like new discoveries about the peopling of the Americas are a dime a dozen these days.  Without a doubt, the journey those first Americans took from the frozen wastelands of Asia down the Pacific coast into the Americas has been an active research subject for many decades.  Archaeologists, linguists, and now geneticists have all analyzed the data in their respective fields, and while we have seen progress in figuring out the overall timing and migration routes across the Bering Strait during the height of the Ice Age, many questions remain unanswered.  For example, there is still disagreement over whether there was a single wave of migrations into the New World around 18,000 years ago (a scenario generally favored by geneticists), or whether there were several separate migrations, each bringing across the Bering Strait its own distinct culture and languages (more popular among linguists).

Now, an international team of geneticists has added to the debate by trying things a bit differently.  While the majority of genetic studies have focused on the four most common mitochondrial DNA (mtDNA) types, or ‘haplogroups,’ among Native Americans, these authors switched things up a bit. In study published online Thursday by Current Biology, they focused instead on two of the most rare and localized mtDNA haplogroups in the New World: D4h3 and X2a.

Mitochondrial DNA is passed down from mother to child exclusively. So by comparing the mtDNA of different populations, geneticists can estimate where and when their female lines diverged from one another.

Haplogroup D4h3 is usually found along the Pacific coast of South America, while X2a has been found only in north-central North America.  The authors sampled a total of 55 individuals who fell into either one of these two groups.  They sequenced the entire mitochondrial genome for each, thereby adding to the considerable lack of knowledge on these haplogroups; this was the first time that anyone completely sequenced representatives of either D4h3 or X2a.

The analyses of haplogroups D4h3 and X2a revealed two distinct genetic histories. That difference suggests they may have come from separate regions of Asia and expanded in the New World in very different directions, even though they both may have arrived around the same time.

Specifically, the authors argue that that, even though it appears that both D4h3 and X2a individuals arrived in the New World at about the same time period – between 14,000 and 17,000 years ago – they took very different routes to get there. The authors argue that D4h3 individuals crossed from Asia to the Americas via a coastal route; the same path the ancestors of most people bearing the major haplogroups are believed to have taken. Then, they continued down the Pacific coast, settling in various places along the way.

However, X2a individuals seemed to have embarked on a different journey.  Avoiding the coast entirely, this group of people traveled through a small inland corridor between two major North American ice sheets, about 15,000 years ago.  Then, they continued into the heart of North America, settling in what is now central Canada, where their descendants still reside today.

The results presented by the authors provide – perhaps for the first time – clear evidence that at least two separate routes were used by the earliest Paleo-Indians as they left East Asia and entered the Americas.  But, and maybe even more importantly, it shows that the migrants who took these routes may have come from two different source populations.  We can only hope that future research on these two haplogroups can reveal where in East Asia they originated, and maybe even what made them cross the frozen landscape in the first place – by land and by sea.

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