What is a Haplogroup and What Can it Tell You About Your Ancestry?

May 02, 2019
What is a Haplogroup
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article by Joe Henneman author
“Hi, my name is Jim, and my haplogroups are A1a and K2a1.” That might not be a typical way to introduce yourself at a meeting or other event (especially if your name isn’t Jim). But bringing up the term haplogroup might spark some interest in the crowd.  

It could be a great conversation starter because it’s something that everyone in the room would have in common. Each person is a member of a haplogroup.

If you’ve taken part in family history projects or even read about genealogy, chances are you’ve seen the term haplogroup. While it might sound like an esoteric gathering of bird watchers, it’s actually a term for everyone. Your haplogroup defines where you came from, across all of human history. For each of us, that’s quite a journey.

What Is a Haplogroup

If you think of humanity as a giant, towering family tree, a haplogroup is a major branch. Everyone sitting on that branch has a common ancestor from long ago. The smaller branches (even down to twig size) are subgroups known as subclades. You can also think of a haplogroup as a clan or kinship group, based on ancestors from thousands of years ago.

There are haplogroups for paternal family lineage and separate haplogroups for maternal lineage. Each haplogroup is associated with specific times and places, as early humans spread across the globe from their early origins in eastern Africa. Studying haplogroups provides clues to a person’s ancient origins, tens of thousands and even hundreds of thousands of years ago. This is what is referred to as “deep ancestry.”

How Are You Assigned to a Haplogroup?

It’s all about your DNA, the genetic blueprints contained in your chromosomes. To really understand haplogroups, we need a basic grasp of DNA, the genetic material found in most human cells. DNA has become a very important tool in genealogy, as scientists improve and refine ways to extract information about us from the molecular level. Home DNA tests taken with a cheek swab or spit in a vial can now yield a treasure trove of information about each of us, our origins, our relatives.

The DNA in your cells provides crucial instructions that guide how your body develops and functions. DNA is arranged in a double-helix: two strands of phosphate and sugar molecules that are connected by base pairs of chemicals like the rungs on a ladder or steps on a winding staircase. The code in DNA is made up of four base chemicals: adenine (A), guanine (G), cytosine (C) and thymine (T). Those bases pair together, A with T and C with G. Human DNA consists of about 3 billion bases. The arrangement or sequence of these pairs determines the information available for the functioning of the body. It’s somewhat akin to how letters of the alphabet arrange to form words and sentences in a story. Most DNA is identical from one person to the next, but small differences called variants or mutations allow scientists to learn much about a person’s genetic history.

The DNA is packed into chromosomes. Each human being has 23 sets of chromosomes, one set each from their mother and father. Twenty-two of the chromosome sets are numbered and called autosomes. Two chromosomes, labeled X and Y, determine a person’s sex. Two X chromosomes make a female and an X and a Y chromosome make a male. Information useful to genealogists is contained across the 46 chromosomes, including, as we will see, haplogroups.

There are two main types of haplogroups, each based on information found in the sex chromosomes: the maternal haplogroups and the paternal haplogroups. In its own way, each is tied to unbroken family lines stretching back more than a thousand generations.

Maternal Haplogroups (mtDNA)

Maternal haplogroups (also called mitochondrial haplogroups) are based on mitochondrial DNA (mtDNA) that is passed down mostly unchanged from a mother to her daughter. Mitochondria, which are found outside the nucleus of a cell, convert food into energy the cell can use for fuel. They are the power plants for our cells. Mitochondrial DNA is a small, circular piece of DNA with more than 16,500 base pairs.

Females and males receive mtDNA from their mothers, but only females can pass it on to their descendants. Thus, mtDNA is a study of the unbroken maternal lineage. Scientists believe all humans are maternal-line descendants of a single woman who lived in the eastern part of Africa some 150,000 to 200,000 years ago (the “Mitochondrial Eve”). She was not the only woman alive at that time, just the one whose DNA has been passed on to the current day. The movements and migrations of her female descendants to points around the globe have been studied by analyzing mtDNA.

The mtDNA passed from one generation to the next often contain small “typos” in the DNA code (sometimes called variants or mutations). Over long stretches of time, these variants form unique patterns that can be studied and classified. Scientists call these variants single-nucleotide polymorphisms (SNPs). By analyzing variants in mtDNA, researchers have been able to separate them into haplogroups, labeled with letters and numbers. Haplogroups were named in the order they were discovered, starting with one (and occasionally two) of the letters A to Z. According to the PhyloTree database published by Mannis Van Oven, there are currently more than 5,400 mtDNA haplogroups. The mtDNA tree is updated when new haplogroups are discovered.

Paternal Haplogroups (Y-DNA)

Paternal haplogroups are based on information found on the Y sex chromosome, which is passed down virtually unchanged from fathers to their sons. Every male in each haplogroup has the same most recent common ancestor (MRCA). How many haplogroups are there? According to DNA testing company Family Tree DNA, there are more than 16,000 Y-DNA haplogroups, based on 118,000 genetic variants. Like the mtDNA haplogroups, Y-DNA haplogroups are designated by a letter followed by a combination of letters and numbers. Each haplogroup is defined by one or more of these genetic variants.

Just like the “Mitochondrial Eve” linked to mtDNA, scientists believe all humans are tied back to a common male ancestor, “Y-Chromosomal Adam,” who lived between 200,000 and 300,000 years ago. He was not the only man alive at the time, but only his DNA has survived until today. Researchers estimate this time frame based on the number of genetic mutations found in current-day men who have taken the Y-DNA test. A woman wanting to explore her family’s Y-DNA history could ask her father, a brother or an uncle to take a Y-DNA test. Since male descendants in most western cultures maintained the surname of their fathers, the Y-DNA test can also be very useful in identifying or confirming more recent genealogy.

The Haplogroup Stories

So now we know that our DNA is packed with information that sheds clues on our deep ancestry. Our haplogroups emerged when our most recent common male ancestor emerged. What does this tell us? To figure that out, it’s best to use real-life examples. Your author belongs to maternal haplogroup H1a3 and paternal Haplogroup J-M241 or J-M221 (depending which test vendor you believe). Not all that impressive sounding on its face. But look a bit deeper and we find some very interesting history.

According to testing company 23andMe, the maternal haplogroup H1a3 descends from a line of women traced back to a single woman in eastern Africa more than 150,000 years ago. She was known as Haplogroup L. Some of her direct female descendants moved out of Africa into other parts of the world, starting with a small group that ventured east across the Red Sea and landed at the tip of the Arabian Peninsula (Haplogroup L3). This group further split into two, with one migrating across Eurasia and giving rise to new branches from Portugal to Polynesia, about 59,000 years ago (Haplogroup N). One of those new branches, Haplogroup R, lived alongside members of Haplogroup N about 57,000 years ago.

Haplogroup H arose from a woman in the Middle East who likely lived about 18,000 years ago. Her descendants moved north after the Ice Age and reached the western fringes of Siberia. A branch from these travelers, called H1a, arose with a woman who lived in western Europe between 5,000 and 7,000 years ago. Her ancestors fled the north during cold peaks at the close of the Ice Age, sheltering in the Iberian Peninsula and along the Mediterranean. Haplogroup H1a migrated into what later became the British Isles and as far north as Finland, with some settling along the Volga River in the Ural Mountains of Russia. A woman who lived about 5,000 years ago was the start of Haplogroup H1a3, which is shared by about one in 200 23andMe customers.

The women of the family were definitely travelers, but what about the men? My 23andMe paternal haplogroup report fills in the details. Haplogroup J-M241 traces lineage all the way back to Haplogroup A in eastern Africa, some 275,000 years ago. For more than 100,000 years, some of these ancestors moved north. About 60,000 years ago, a small group moved across the Red Sea and deep into southwest Asia, leading to formation of Haplogroup F-M89. From them, Haplogroup J-M304 arose about 48,000 years ago and migrated with farmers and herders who brought agriculture to Europe, central Asia, and northern Africa. Whew! Sounds like an exhausting journey.

The man at the center of Haplogroup J-M241 lived about 34,000 years ago. That’s more than 1,300 generations! This haplogroup is rare, with only 1 in 1,400 customers of 23andMe being classified as J-M241. The Geno 2.0 test from National Geographic pegs me as part of Y-DNA haplogroup J-M221, which had a rather different journey. Why the difference? It’s hard to tell from the test results, which is a good argument in favor of paying for the Y-DNA and mtDNA tests at Family Tree DNA, which can state haplogroups with the best precision.

Fun With Haplogroups

Now I’ve learned my forebears moved around a lot, driven in part by climate conditions and no doubt by availability of resources. That’s some great ancient history, but can haplogroups shed light on anything more recent? National Geographic’s Geno 2.0 DNA kit shows which famous people across time shared a direct common ancestor individuals who’ve taken the DNA test.

According to the National Geographic analysis, I share a common ancestor with Queen Victoria (1819-1901), the longest serving monarch of the British Empire. Our common ancestor lived as long as 12,000 years ago. From the time period 12,000 to 25,000 years ago, I share a common ancestor with famed astronomer Nicolaus Copernicus (1473-1543), American founding father Benjamin Franklin (1706-1790), Marie Antoinette of “let them eat cake” fame (1755-1783), and even Napoleon Bonaparte (1769-1821), French military commander who went to defeat in the Battle of Waterloo in June 1815.

From the time period 25,000 to 45,000 years ago, I have a common ancestor with Russian writer Leo Tolstoy (1828-1910), inventor Nikola Tesla (1856-1943), author of the Federalist Papers Alexander Hamilton (1755-1804). Now, this is getting fun. If you go back far enough, we’re all related, so it should be no surprise that I share a common ancestor with some of history’s most famous people. The list goes on for pages and includes other luminaries:

  • U.S. President Abraham Lincoln (1809-1865)
  • Ruthless Mongol ruler Genghis Khan (1162-1227)
  • U.S. President Thomas Jefferson (1743-1826)
  • King Tut (1341 BC to 1323 BC)
  • Outlaw Jesse James (1847-1882)
  • Ramses II (1303-12-13 BC)

How to Find Your Haplogroups

The only way to find out your maternal and paternal haplogroups is to take a DNA test that analyzes mitochondrial DNA or Y-DNA. Two major test vendors provide haplogroup information: Family Tree DNA, and 23andMe. Each company packages the information a little differently. Which test kit you choose depends on if you hope to accomplish other things with the results, such as tracing male surnames across time or finding relatives.

Family Tree DNA — The Texas-based company offers two mtDNA tests starting at $89 and four Y-DNA tests starting at $169. The lower priced mtDNA test provides basic haplogroup identification and ancient migration routes, while the $199 test examines all the regions of mtDNA for more refined results for genealogy matching. For Y-DNA, the four tests vary in the number of short tandem repeats (STRs) tested on the Y chromosome, from 37 on the low end to 700 on the high end. All tests will provide haplogroup information. The higher end tests are more helpful for relative matching. Find out more with our Family Tree DNA review here.

23andMe — The $99 ancestry test includes maternal and paternal haplogroup information with very detailed narratives on the history of each customer’s haplogroups. However, the test does not include details useful for mtDNA or Y-DNA relative matching like those at Family Tree DNA. You can find out more with our 23andMe review here.

Other major DNA kit vendors such as AncestryDNA and MyHeritage do not currently provide haplogroup information, however, it’s worth checking them out as they can still provide a wealth of information, such as whether you may be more prone to various diseases by doing a DNA test kit for health.

Other Haplogroup Facts

  • Because haplogroup information examines deep ancestry from thousands to tens of thousands of years ago, your more-recent relatives might not share the same haplogroups as you.
  • Some haplogroups are associated with ethnicities. For example, Y-DNA Haplogroup Q3 covers nearly all Native Americans. Y-DNA Haplogroup E3a is primarily African and covers most subsaharan Africans. Many African-Americans also belong to this haplogroup.
  • Most diaspora Jews descend from seven Y-DNA haplogroups: E3b, G, J1, J2, Q, R1a1 and R1b.
  • You can find out more about the best DNA testing kits and the haplogroups Asian ancestry falls into, too.
  • What are the rare haplogroups? That’s harder to explain that it sounds. Even though DNA kits have exploded in popularity, only a small percentage of the population has been tested. So a haplogroup with few known members today might be well populated in a decade when potentially millions more people take Y-DNA or mtDNA tests. Ultimately, the rarest haplogroups are the two with just one member each – Mitochondrial Eve and Y-Chromosomal Adam.
  • There are many online tools to explore haplogroups in more detail, including the major haplogroups by country, haplogroup maps, and catalogs with details on every mtDNA and Y-DNA haplogroup.

As you can see, maternal and paternal haplogroups contain a rich depth of information about our ancient origins. They make a nice complement to other genealogy information culled from DNA testing kits, such as ethnicity estimates and relative matching. Dive into your study of ancestry DNA haplogroups and who knows where it might lead? Maybe we’ll see popular events like haplo-reunions, haplo speed-dating, haplo travel tours or television haplo-quiz shows. Well, maybe not. But we’re pretty confident you will enjoy learning about your own haplogroups.