Haplogroups Explained

August 25, 2015

Published by 23andMe under 23andMe and you, Ancestry

By Thomas Le
Many 23andMe customers that contact Customer Care are confused by their haplogroup
assignments and what they actually mean.
But knowing your haplogroup, and how you can use it, can give you much more clarity
about your own ancestry. So in the interest of helping you out, Ill walk through my own
maternal and paternal haplogroup assignments, and explain how knowing your haplogroups
can place you in the human family tree and connect you to your ancestry.
image: http://blog.23andme.com/wp-content/uploads/2015/08/ThomasL1-copy-200x300.jpg

Thomas Le
Job: Ancestry and sample processing specialist on the Customer Care Team.
From: San Jose, CA
Education: BS in Genetics from the University of California, Davis
Fun Fact: Outside of work, he enjoys swimming, hiking, camping, scuba diving, playing the
piano, photography, watching movies, and reading books.
Favorite genetics fact: Chimeras are genetically two distinct people.
Im Asian, specifically, my familys roots are in Southeast Asia. But my maternal haplogroup
B45 and more specifically subgroup B5a1a is most commonly found among Native
Americans of the U.S. Southwest and northern Mexico.

So why is that? What connects me to Native Americans?

This is where understanding a little bit about haplogroups is helpful in placing you and your
ancestry in the broader context of human history. Each haplogroup describes individual
branches or closely related groups of branches on the genetic family tree of all
humans. All members of a haplogroup trace their ancestry back to a single individual.
I share my maternal haplogroup with many Native Americans because 12,000 years ago
people migrated from Asia to Alaska, when sea levels were lower. I imagined how the
descendants of my ancient maternal ancestor a common ancestor I share with many
Native Americans had crossed the Bering Land Bridge to populate the Americas. I
pondered the fact that my ancient maternal ancestor hadnt made this original migration with
them, but how I was now living within close proximity to this region.
Looking deeper at my results my maternal haplogroup is a subgroup of B45, specifically
B5a1a. It has its own history where it broke off from B45 in Southeast Asia. Recent
migration patterns have altered the global distribution of this haplogroup, but that ancient
history is written in my DNA and being able to read that and identify my maternal
haplogroup connects me to that history.
The ability to trace back a persons maternal haplogroup back so far more than 50,000
years in the case of B45 has to do with how it is passed down to each of us from our
mother, and her mother, and her mothers mother, and so on back in time.
Maternal haplogroups are determined by defining variant in your mitochondrial DNA.
Everyone inherits their mitochondria from their mothers . Unlike your other pieces of DNA,
your mitochondrial DNA is the only type of DNA that is found outside of the nucleus. For this
reason, your mitochondrial DNA does not recombine with other types of DNA. Because your
mitochondria is inherited directly from you mother and undergoes very little recombination,
you will share the same maternal haplogroup with any relative you share a direct maternal
line with. For example, you, your mother, your brother, your sister, your maternal aunt, your
maternal grandmother, etc. would all share the same maternal haplogroup as you. And that
maternal haplogroup traces back through the generations to a single mutation at a specific
place and time. In my case, my maternal haplogroup is one that is shared by many people,
not only of Han Chinese ancestry, but also with many Polynesians, Native Americans, and
Southeast Asians.
Now that weve looked at maternal haplogroups, we can turn our attention to paternal
haplogroup assignments. My paternal haplogroup assignment is O3a3c1*. It traces to East
Asia and is also common among Han Chinese, Koreans, Filipinos and Malaysians. The
paternal haplogroup assignment is determined by defining variants in your Y Chromosome.
The Y chromosome is the sex-determining chromosome for males, which men inherit from

their fathers. Therefore, unless you inherited a Y chromosome from your father, you will not
have a paternal haplogroup assignment. (You can find out more about this here.) This is
why women will see this page is unavailable to them within their 23andMe account, but in a
moment Ill explain how women can determine their paternal haplogroup.
First let me explain a little bit more about the the Y chromosome. The Y chromosome does
undergo recombination with the X chromosome, but only does so at the ends. So about 95
percent of the Y chromosome remains relatively intact across generations. For this reason,
the Y chromosome is a reflection of your ancient paternal ancestry. You would therefore
share a paternal haplogroup assignment with any male relative that you shared a direct
paternal line with. A woman can infer her paternal haplogroup if a male relative on her
paternal line has been genotyped by 23andMe.
image: http://blog.23andme.com/wp-content/uploads/2015/08/Migration_map4.jpg

Because both the

Y chromosome and mitochondrial DNA change so little over generations, they are very
informative about your ancient ancestry. But that is not to say that they do not change at all.
In fact, each letter and number that you see within your haplogroup corresponds to a set of
defining mutations in your mitochondrial DNA or your Y chromosome. This marks a period
in time when your haplogroup branched off into a distinct line. So, for example, it may mark
when a population first migrated out of Africa, or when another group became
geographically isolated. 23andMe is able to trace your ancestry based on these mutations,
because they occurred in distinct geographical locations during specific periods of time.
Haplogroup assignments can even be traced back to specific languages.
That DNA evidence is often corroborated by the fossil record. Our oldest fossils date back
200,000 years and were found in Omo Kibish in Ethiopia. According to genetic and
paleontological records, Homo sapiens only began migrating out of Africa 60,000-70,000
years ago moving into the Eurasian continent. Some of these migrants moved along the

Indian coast reaching first Southeast Asia and then Australia around 50,000 years ago.
Since then, different migratory events have spread our species across the continents along
different routes and paths.
We are able to trace migratory patterns based on defining mutations in mitochondrial DNA
and Y chromosome DNA. By looking at my own maternal haplogroups, for example, I know
that my ancient ancestors were among a group of individuals who were in Southeast Asia,
and that some of those individuals eventually migrated across the Bering land bridge to
populate the Americas. Some stayed around East Asia and developed some new defining
mutations in their mitochondrial DNA making them B5a1a.
It is important to keep in mind that your mitochondrial DNA and Y chromosome account for
very small portion of your DNA and a small portion of your overall ancestry. As most
haplogroups arose over tens of thousands of years ago, these pieces of DNA generally
reflect your very ancient ancestry. Therefore, it is possible for two people to share the same
haplogroup assignment but no recent ancestry. So for example, while you may share a
paternal haplogroup with Stephen Colbert, you probably dont share any recent common
ancestors.
A large portion of our DNA is found within your autosomal DNA, which undergoes
recombination with each successive generation. Your results analyzing your autosomal DNA
therefore generally reflect your ancestry from within the past five to ten generations.
Therefore, it is not uncommon for the ancestry found within your haplogroup to differ from
your own understanding of your ancestry and the ancestry found in the features analyzing
your autosomal DNA, such as Ancestry Composition. This does not mean that any of these
pieces are incorrect; they are each simply describing a different part of your rich and unique
ancestry.

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