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DNA - 101
KNOWLES SURNAME
DNA PROJECT

HAPLOGROUPS
What
Are They and Why Are They Important
based on
Deep Ancestry: Inside the Genographic Project, by
Spencer Wells
with links provided to the ISOGG
descriptions

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All humans belong to a
Haplogroup, an ancestral clan whose markers permit geneticists to study how
modern humans came to inhabit the world. Haplogroups represent the branches of the tree for Homo
Sapiens. The branches of the tree of Homo Sapiens stitch together and every male
in the world can be located on one branch or another by a test that looks for a
rare mutation (Single
Nucleotide
Polymorphism) on the
male Y-chromosome. The nickname for the testing procedure used to
establish one's Haplogroup is SNP
and it is pronounced as it appears.
Anthropologists follow SNP’s to determine ancient migratory
patterns and deep ancestral dating when trying to establish when, for example,
Western Europe was first settled, generally in conjunction with other
disciplines, like field Archeology. Genealogists are interested in where
their very early ancestors were from geographically.
If you are interested in the migration of Homo Sapiens out of
Africa and to every part of the world, you might want to view the video and read
the book: The Journey of Man, by Spencer Wells.
The video is very good and the book is even better. In the book, Wells does a good job explaining concepts such as genetic drift and Ockham’s Razor (from William of Ockham in the fourteenth century). His
explanations of how mutations develop and are then passed on to subsequent
generations are very easy to follow, and he goes on to explain this all by
following SNP’s around the globe as Homo Sapiens emerged from Africa 70,000+
years ago. By providing an estimate of the most likely time (and ranges) for the
splits in the tree of Homo Sapiens, Olson helps colorize pre-history for someone
who is not a science major.
It you want to know more about our ‘deep ancestry’ view
the video, but if you want to gain a good appreciation for the splitting into
branches of the tree of Homo Sapiens, check out the Y-DNA Haplogroup Tree via
the following link:

Want to read the book! Both the
video and book can be found via the
following link:

The 2005 Y-Chromosome Phylogenetic Tree seen
via at the first link above is the most updated (10/18/04) graphic representation of the
Haplogroups according to the YCC classification. Haplogroup names and major
clades are labeled with large capital letters (the entire cladogram is
designated Haplogroup Y). Mutation names are given along the branches of the
trees. This detailed and attractive chart is now offered in a 12"x38"
size by FTDNA (suitable for framing).
A current version of the Y-DNA Haplogroup Tree
is being maintained on the ISOGG (International Society of Genetic Genealogy)
Web site based on the latest developments in the field. The ISOGG Tree
provides the Haplogroup (clade) name followed by a list of one or more SNPs
responsible for the clade (including the alias, if any).
The Y-DNA Haplogroup Table
below provides a brief description of the major
Haplogroups and few of the sub-clades. Your Y-DNA test results includes some of these descriptions for
your predicted Haplogroup and your SNP test (if you have obtained a SNP test).
GENOGRAPHIC
PROJECT
Spencer Wells, Ph.D., Director,
Genographic Project for the National Geographic Society is the population
geneticist who has conducted pioneering research using DNA to trace humankind's
migratory history. Dr. Wells is currently embarked on a new study, the
Genographic Project, to further evaluate the early human migration out-of-Africa
some 50 to 60,000 years ago.
Most scientists think humans are
descended from a common ancestor, so why do we look so different (the DNA from
all humans is 99.9% identical; it's the 0.1% that makes us different)? IBM
and the National Geographic Society are searching for the answer to this
question by creating a global family tree from human DNA via the Genographic
Project. Lead researcher, Spencer Wells is overseeing the gathering of
100,000 samples from native peoples around the world to learn the routes early
man took to populate the Earth. Dr. Wells expects some surprises when the
results are analyzed by 2010. Dr. Wells tells us, "We all share a common
beginning and many similarities. If we remember that, maybe we can reduce
the tendency to emphasize our differences."
You can participate in this
historic National Geographic Society Project by purchasing a test kit, doing a
simple mouth swab and sending it in. In eight weeks, you'll learn about
your deep ancestry (results are kept secure). The purchase of the test kit
from NGS includes the "Journey of Man" video.

The results received via your
participation in the Genographic Project (12 Y-DNA markers) can be transferred
to one or two of the FTDNA Surname or Regional DNA Projects. If you
already have 12-marker (or more) results via a FTDNA test, you can transfer your
results to the NGS Genographic study for a $15 donation.
You can get a
feel for the migration of your ancestors via the Haplogroup Map provided by the
Genographic Project.

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Y - HAPLOGROUP
DESCRIPTIONS
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Specific Y-DNA Haplogroups are typically found in
different regions of the world, and this is due to unique population
histories. In the process of spreading around the world, many
populations with their special Y-DNA Haplogroups, became isolated,
and specific Haplogroups concentrated in geographic regions.
Today, we have identified certain Haplogroups that originated in Africa,
Europe, Asia, the islands of the Pacific, the Americas, and even particular
ethnic groups. Of course, Haplogroups that are specific to one region are
sometimes found in another, but this is due to recent migrations. |
'Y' HAPLOGROUP DESCRIPTION
TABLE
(links for each Haplogroup
name are to ISOGG descriptions) |
|
NAME |
DESCRIPTION |
|
A
'Y-Adam' > M91 |
The most diverse of all Y-chromosome
lineages. Haplogroup
A dates back
roughly 60,000 years ago and is defined by the marker
M91.
Genetic diversity increases with age, so
M91
provides a genetic link to the earliest common ancestor of all
humans,
'Y-Adam'.
This Haplogroup is representative of peoples from Sub-Saharan
Africa. Today, many individuals carrying marker
M91 live in
Ethiopia, the Sudan and southern regions in Africa. |
|
B
'Y-Adam' > M60 |
Marker
M60 defines Haplogroup
B, an ancient
African lineage that originated some 50,000 to 60,000 years ago.
As with most very old lines of descent, it has a broad dispersal and
is found today across the African continent, and is shared by many
different African peoples. |
|
C
'Y-Adam' > M168 > M130 |
Approximately 50,000 years ago, probably in
southern Asia, a man was born carrying the marker
M130.
His recent ancestors had just begun the first major wave of
migration out of Africa. They followed the African coastline
through the southern Arabian Peninsula, India, Sir Lanka, and
southeast Asia. Today, this
Haplogroup is found throughout mainland Asia, the South Pacific, and at
low frequency in Native American populations. Haplogroup
C after
originating in southern Asia, spread in all directions. This
lineage colonized New Guinea, Australia, and northern Asia and is
currently found with its highest diversity in the populations of
India. |
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C3
'Y-Adam' > M168 > M130 > M217 |
The genetic marker
M217
establishing the
C3 lineage
arose in people who lived among ancient East Asian populations about
20,000 years ago. From East Asia the descendants with
the
M217 spread
the marker west and south toward central Asia. Genealogists
believe this lineage spread in part via the legendary Mongol
conquests of Genghis Khan during the 12th and 13th centuries A.D.
See
"Who is related to Genghis Khan?" |
|
YAP
'Y-Adam' > M168 > YAP |
The Y
Alu
Polymorphism or
YAP for
short, is characterized by a mutational event known as
Alu
insertion, a 300 nucleotide fragment of DNA that on rare occasion
gets inserted into different parts of the human genome during cell
replication. A man living around 50,000 years ago (somewhere
in southern Asia) acquired this fragment on his Y-chromosome and
passed it on to his descendants.
Over time the YAP lineage split into two distinct groups: One,
Haplogroup D
is found in Asia and is defined by the
M174
mutation. The other, Haplogroup
E is found
primarily in Africa and the Mediterranean and is defined by marker
M96. |
|
D
'Y-Adam' > M168 > YAP > M174 |
Ancestors of Haplogroup
D may have
accompanied Haplogroup C
on the first wave of migration out of Africa, or via the same route at a
later date. Today, the lineage represented by
the D Haplogroup is seen primarily in
central Asia, southeast Asia and in Japan. The high frequency of
Haplogroup D
in Tibet (about 50%) and in Japan (about 35%) implies some early
migratory connection between these two areas. |
|
D1
'Y-Adam' > M168 > YAP >M174 > M15 |
M15, the
genetic marker that defines Haplogroup
D1, first
appeared in humans some 30,000 years ago, probably in southeast Asia.
This subgroup of the
D lineage is
currently present in southeast Asia and Tibet. Like its
progenitor, it is found in low frequencies in Mongolian populations, but
unlike Haplogroup
D it is
completely absent from Japan. |
|
D2
'Y-Adam' > M168 > YAP > M174 > P37.1 |
About 30,000 years ago in southeast Asia, the
genetic marker
P37.1 first
appeared. Today this marker defines Haplogroup
D2, and
carriers are identified as of the
M174 migrants who
undertook a gradual northward migration, eventually reaching Japan.
Today, this subgroup is seen almost exclusively in
Japan, occurring at frequencies of as high as 50 percent in some
Japanese populations. |
|
E
'Y-Adam' > M168 > YAP > M96 |
The marker
M96 first
appeared in
northeast Africa 30,000 to 40,000 years ago (precise origins are still
unclear). Some Haplogroup
E descendants
headed north and into the Middle East. The two best established
E lineages
are
E3a and
E3b. |
|
E1 |
This Haplogroup is restricted to Africa where
it occurs at intermediate frequencies and is less common than its
sister lineage
E3a.
|
|
E3 |
This lineage is most commonly found in African populations. It is the only
branch of Haplogroup
E
which has also been found at low frequency in Europe and
western Asia.
|
|
E3a
'Y-Adam' > M168 > YAP > M96 > M2 |
The
E3a
Haplogroup is an Africa lineage. The man who gave rise to this
lineage was born in Africa about 30,000 years ago. His
descendants traveled south to sub-Saharan Africa. It is currently hypothesized that
this Haplogroup dispersed south from northern Africa within the last 3,000
years, by the
Bantu agricultural expansion.
E3a
is the most common lineage
among African Americans.
|
|
E3b
'Y-Adam' > M168 > YAP > M96 > M35 |
About 20,000 years ago, the
M35
marker appeared in the Middle East among the populations of the
first farmers who helped spread agriculture from the Middle East
into the Mediterranean region. It expanded into the
Mediterranean during the
Pleistocene
Neolithic expansion.
Today, this Haplogroup is distributed around the Mediterranean, southern Europe, and in
north and east Africa. |
|
F
'Y-Adam' > M168 > M89 |
The marker M89
first appeared around 45,000 years ago in northeastern Africa or the middle
East.
Haplogroup
F is the
parent for all Y-DNA Haplogroups G
through R
and today is found in 90 percent of all non-African men world-wide.
Haplogroup F
occurred in the original migration out-of-Africa, (or soon afterward), because
F and its
sub-Haplogroups are primarily found outside, with very few inside, sub-Saharan
Africa.
The major sub-groups of Haplogroup
F are Haplogroups
G, H, I, J and
K, identified below.
The minor sub-groups, F*, F1
and F2 have not
been well studied, but apparently occur only infrequently and primarily in the
Indian subcontinent. F*
has been observed in two individuals in Portugal, possibly representing a
remnant of 15th and 16th century contact of Portugal with India. |
|
G
'Y-Adam' > M168 > M89 > M201 |
Members of Haplogroup
G
share a marker,
M201, that arose around 30,000
years ago in a man born along the eastern edge of the Middle East,
perhaps close to the Himalayan foothills in Pakistan or India, and
later dispersed into central Asia, Europe and the Middle East.
The descendants of this lineage are few, and the members of
this clan are rarely found at frequencies greater than a few percent
in any populations. |
|
G2
'Y-Adam' > M168 > M89 > M201 > P15 |
About 30,000 years ago, the genetic marker
P15
emerged and now defines the Haplogroup
G2. The
G2
lineage arose in the Middle East, though
P15
descendants soon spread westward through modern Turkey into
southeastern Europe. The bulk of these migrations took place
more than 15,000 years ago, before much of Europe was locked in ice
during the last glacial maximum. When the glaciers
finally began to recede, the
G2
lineage expanded northward and eastward to repopulate Europe.
Today, the
G2
branch of the
G
Haplogroup (containing the
P15
mutation) is found most often in Europe and the Middle East. |
|
H
'Y-Adam' > M168 > M89 > M69 |
Ancestors of Haplogroup
H migrated
along the
Eurasian Steppe
'highway' from the
Middle East around 45,000 years ago continuing toward India.
During this journey over hundreds of generations, a man was born
approximately 30,000 years ago with the
M69 marker,
which now defines the
H lineage.
Today this lineage is nearly completely restricted to the regions of preset
day India, Sri Lanka, and Pakistan. |
|
H1
'Y-Adam' > M168 > M89 > M69 > M52 |
The specific genetic marker that defines
Haplogroup H1,
M52,
is part of a largely Indian linage. This marker made its first
known appearance about 25,000 years ago in India.
M52 was a
part of the second major wave of human migration into India, long
after a large wave of African migrants traveled along the Indian
coastline 50,000 to 60,000 years ago. |
|
I
'Y-Adam' > M168 > M89 > M170 |
Ancestors of this Haplogroup were part of
the
M89 Middle
Eastern clan that continued to migrate northwest into the Balkans
and eventually spread into central Europe. The most recent
common ancestor, the man who gave rise to Marker
170 was born
about 23,000 years ago or
longer. His descendants were later forced into the isolated
refuge areas during the last of the ice age in the Balkans and
Iberia. As the ice sheets covering much of Europe began to
retreat, his descendants likely played a central role in
recolonizing central and northern Europe.
Today, the I,
I1, and
I1a lineages
are nearly completely restricted to northwestern Europe. These
would most likely have been common within Viking populations.
One lineage of this group extends down into central Europe.
Lineages not in branches I1a,
I1b or
I1c are found
at low frequencies throughout Europe. |
|
I1a
'Y-Adam' > M168 > M89 > M170 > M253 |
Some 20,000 years ago this group, like many Europeans, sought refuge
from the massive ice sheets of ice that covered much of the
continent during the last ice age. They found temperate
ice-free refuge on the Iberian Peninsula. While this ancestral
lineage was geographically isolated, the distinctive genetic marker
M253 appeared in one of its male members. As the Earth warmed
and the glacial maximum passed, some 15,000 years ago these refugees
left the peninsula and began to repopulate other parts of Europe,
carrying with them the unique marker that defines Haplogroup
I1a.
Today
I1a
is found most frequently within
Scandinavian populations in northwest Europe and has since spread
down into Central and Eastern Europe, where it is found in low
frequencies. It is likely that many Vikings descended from
this line. The Viking raids on the British Isles might help to
explain the dispersal of this lineage there as well. |
|
I1b
'Y-Adam' > M168 > M89 > M170 > P37.2 |
Haplogroup I1b
is further defined by a marker known as
P37.2.
This marker first appeared in the Balkans about 15,000 years ago and
still most commonly found there today (at its greatest frequency and
diversity) as well as in Eastern Europe, and
extends further east with Slavic-speaking populations. These
regions probably
harbored this subset of Haplogroup I as a refuge during the Last Glacial
Maximum. When the glaciers finally began to recede, the I1b
lineage expanded northward and eastward into Europe, carrying the
P37.2 marker with them. |
|
I1b2 |
This subgroup of Haplogroup
I1b
is very common in Sardinia and was likely among the first humans to
populate the island about 9,000 years ago. It is also found in
the western Mediterranean and western Europe at lower frequencies.
Unlike
I1b, I1b1
is not present east of the Adriatic Sea. |
|
J
'Y-Adam' > M168 > M89 > M304 |
The patriarch of Haplogroup
J
was born around 15,000 years ago somewhere in the Fertile Crescent,
a region that today includes Israel, the West Bank, Jordan, Lebanon,
Syria and Iraq. The early farming successes of the
J
lineages spawned population booms and encouraged migration
throughout much of the Mediterranean region. Both Haplogroup
J
and its subgroup
J2
are found at a combined frequency of around 30 percent among the
Jewish population. The Cohen modal lineage is found in
Haplogroup
J*
Today the
M304
marker appears at its highest frequencies in the Middle East, North
Africa and Ethiopia. In Europe
M304
is seen only in the Mediterranean region.
|
|
J1
'Y-Adam' > M168 > M89 > > M304 > M267 |
Haplogroup J1
emerged during the Neolithic Revolution in the Middle East.
Members of the J1
clans shared the farming successes of the other
J
Haplogroups. In particular, some
J1
individuals moved back into North Africa and were quite successful
there as well as evidenced by the highest frequencies for
J1 appearing
in this region. Other members of the
J1 lineage
remained in the Middle East, and some moved northward into Western
Europe, where J1
is found at low frequencies. |
|
J2
'Y-Adam' > M168 > M89 > > M304 > M172 |
The M172
marker defines a major subset of Haplogroup
J, which
arose from the M89
lineage. Today Haplogroup J2
is found today in North Africa, the Middle East, and southern
Europe. As with other populations with
Mediterranean ancestry, this linage is found within Jewish populations. |
|
K
'Y-Adam' > M168 > M89 > > M9 |
The marker M9
first appeared in a man born around 40,000 years ago in present day
Iran or south-central Asia. This marked a new lineage
diverging from the M89
Middle Eastern clan. His descendants spent the next 30,000
years populating much of the planet.
This large linage, called the
Eurasian Clan,
dispersed gradually over thousands of years. Seasoned hunters
followed the herds ever eastward, along the vast 'highway' of the
Eurasian Steppe.
Eventually their path was blocked by the massive mountain ranges of
south-central Asia: the Hindu Kush, the Tian Shan and the Himalayas.
These three mountain ranges meet in the center of a region known as
the
Pamir Knot, located in present-day
Tajikistan. Here the tribes of hunters split into two main
groups. Some moved north into central Asia, others moved south
into what is now Pakistan and the Indian subcontinent. These
different migration routes through the
Pamir Knot
region gave rise
to separate lineages. Most people of the Northern Hemisphere
trace their roots to the Eurasian
Clan. Nearly all North
Americans and East Asians are descended from this man, as are most
Europeans and many Indians.
[not a likely Haplogroup for Knowles] |
|
K2
'Y-Adam' > M168 > M89 > > M9 > M70 |
Not all M9
descendants challenged the problem of the
Pamir Knot. Others stayed in
the relatively fertile environment of the Near East. There
some 30,000 years ago, the marker
M70
appeared and today defines this Haplogroup K2.
Ancient members of the K2
dispersed across the Mediterranean region.
The
K2
lineage is presently found only at low frequencies in Africa, Asia
and in the Middle East. This specific line is found at low
frequency in Southern Europe, Northern Africa and the Middle East.
[not a likely Haplogroup for Knowles] |
|
L
'Y-Adam' > M168 > M89 > > M9 > M20 |
This segment of the M9
Eurasia Clan
migrated south once they reached the rugged and mountainous
Pamir Knot
region. The man born with marker
M20 was probably born in India or the Middle
East. His ancestors arrived in Indiana about 30,000 years ago and
represent the earliest significant settlement of India. Therefore,
Haplogroup L is
known as the Indian Clan.
Today, the
L
lineage is found primarily as sub-group
L1
in India and Sri Lanka. Sub-group
L3
is found mostly in Pakistan. Haplogroup
L
can also be found in low frequencies in the Middle East and in Europe
along the Mediterranean coast.
[not a likely Haplogroup for Knowles] |
|
M
'Y-Adam' > M168 > M89 > > M9 > M4 |
Towards the end of the last ice age,
M4
ancestors headed to the coastline of Southeast Asia. The first
man born with the M4
marker thus establishing Haplogroup
M, may have been born about 10,000
years ago. Men with the M4
genetic marker today live primarily in Melanesia, Indonesia and to a
lesser extent in Micronesia. This lineage is nearly completely confined to the South Pacific. It
most probably originated in Melanesia, and then spread into
Indonesia, Micronesia and New Guinea. The M4 marker may have
dispersed through the islands with the spread of rice agriculture in
the region.
[not a likely Haplogroup for Knowles] |
|
N
'Y-Adam' > M168 > M89 > > M9 > LLY22G |
A member of Eurasian Clan
who traveled north through the
Pamir Knot
gave rise to the LLY22G
marker, which defines Haplogroup N.
This man was probably born in northern China or Mongolia within the
last 10,000 years. His descendants then spread into Siberia
where this Haplogroup became very common in western Siberia.
Today his descendants can effectively trace a migration of
Uralic-speaking peoples (Finns & Hungarians) during the last several
thousand years. This lineage has dispersed and is now found in
southern parts of Scandinavia as well as northern Asia. |
|
O
'Y-Adam' > M168 > M89 > > M9 > M175 |
A man carrying the marker
M175 was
born around 35,000 years ago in Central or East Asia. This
ancestor was part of the M9
Eurasian Clan that, encountering impassable mountain ranges ,
migrated to the North and East. These early Siberian hunters
continued to travel east along the great steppes, gradually moving
through southern Siberia. Some, perhaps taking advantage of
the Dzhungarian Gap used thousands of years later by Genghis Khan to
invade Central Asia. By the
time Haplogroup O
ancestors arrived in China and East Asia, the last ice age was near
its peak. Encroaching ice sheets and Central Asia's enormous
mountain ranges effectively corralled them in East Asia. Today, some 80 to 90 percent of all people living east of Central
Asia's great mountain ranges are members of Haplogroup
O, the East
Asian Clan. The marker M175
is virtually nonexistent in Western Asia and Europe.
The
O
lineage also migrated into the South Pacific. From East Asia,
this lineage expanded into Taiwan (high frequency in the aboriginal
Taiwanese), Indonesia, Melanesia, Micronesia and Polynesia.
[not a likely Haplogroup for Knowles] |
|
O1a
'Y-Adam' > M168 > M89 > > M9 > M175 >
M119 |
Haplogroup O1a
is defined by a genetic marker named
M119, which
first appeared in South China or Southeast Asia about 30,000 years
ago. O1a
descendants subsequently dispersed throughout much of Southeast
Asia, and their descendants remain numerous there today.
Another group of M119
carriers took a longer journey, eastward through Asia, all the way
to Taiwan, where O1a
appears in frequencies around 50 percent in several aboriginal
populations.
[not a likely Haplogroup for Knowles] |
|
O2
'Y-Adam' > M168 > M89 > > M9 > P31 |
About 30,000 years ago, a man was born with
genetic marker P31,
which now defines Haplogroup O2.
This man lived in eastern Asia, perhaps in southern China and his
descendants spread into Southeast Asia, east to Korea, and north to
Japan. This distantly Asian Haplogroup is most common today in
Southeast Asian nations like Malaysia and Thailand.
This Haplogroup has two primary lines, the
SRY465
line and the
M95
line. Both lines are found in Asia. The
SRY465
line is at high frequency in Japanese and Korean populations and at
low frequency in East Asia. The
M95
line is found in the southeast Asian populations (Malaysia, Vietnam,
Indonesia, and southern China).
[not a likely Haplogroup for Knowles] |
|
O3
'Y-Adam' > M168 > M89 > > M9 > M122 |
The ancestral man who was born with marker
M122
was probably born in China or southeast Asia. This Haplogroup
is the major lineage of China. The widespread distribution of
this man's descendants (more than half of Chinese men) strongly
suggests that the spread of his descendants was closely tied to the
spread of agriculture). Today this marker is found throughout
East and Southeast Asia. This lineage also occurs in central and
northern Asia at low frequencies, as well as throughout the south
Pacific. It has been hypothesized that this lineage may have been spread
through the south Pacific in the same wave as Haplogroup
O1.
[not a likely Haplogroup for Knowles] |
|
P
'Y-Adam' > M168 > M89 > > M9 > M45 |
The marker M45
arose around 35,000 years ago in a man born in central Asia. He descended
from the M9
Eurasian Clan
that had moved to the north of the mountainous Hindu Kush and onto the game-rich
steppes of present-day Kazakhstan, Uzbekistan and Southern Siberia. This
clan's resourcefulness and ability to adapt was critical to survival in Siberia
during the last ice age, a region where no other hominid species are known to
have lived. The M45
central Asian clan gave rise to many more; this man was the common
ancestor of most European and nearly all Native American men. The
P Haplogroup is rarely found as an undifferentiated Haplogroup.
The P Haplogroup is ancestral to both Haplogroup
Q and the much larger
Haplogroup R. Today this Haplogroup is found in
only low frequencies in
India, Pakistan and Central Asia. |
|
Q
'Y-Adam' > M168 > M89 > > M9 > M45 >
M242 |
The
Q
lineage is the lineage that links Asia and the Americas. The
marker M242
arose some 15,000 to 20,000 years ago, with a man born in the
savagely cold climate of Siberia during the last ice age.
His descendants became the first explores of North America.
Despite frigid temperatures, some of the
Siberian Clan
gradually crossed Siberia's ice-free tundra to eastern Siberia.
About 15,000 years ago with much of the Earth's water locked up in
ice sheets, sea levels were some 330 feet lower than they are today.
Consequently, a landmass called
Beringia (Bering Land Bridge)
connected present-day Siberia and Alaska, providing a crossing point
for the descendants of the Siberian
Clan which led to original
populating of the Americas.
Some of the
Siberian Clan
remained in Asia; marker M242
can be found in India and China as well as Siberia.
Almost all
Native Americans
are descendants of the
Siberian Clan. |
|
Q3
'Y-Adam' > M168 > M89 > > M9 > M45 >
M3 |
A man born soon after the first of the
Siberian Clan
reached the Americas was born with a new marker known as
M3, (also
known as SY 103). This ancestor born in North America
10,000 to 15,000 years ago is the patriarch of the most wide-spread
lineage in the Americas. Nearly all native South Americans and
most Native North Americans are descended from this line. The Haplogroup
Q3
is the only lineage strictly associated with the Native American
populations. There is some debate as to on
which side of the Bering Strait the
M3
mutation occurred, but it
definitely happened in the ancestors of the Native American peoples.
After crossing the
Beringia,
these Haplogroup Q3
ancestors traveled south via an ice-free corridor along the Rocky
Mountains, and/or down the coastline. Continuing their
migration south, they reached the tip of South America within just a
thousand years. After the rigors of life dominated by freezing
temperatures in Siberia, these explorers found land abundant with
food and natural resources and they prospered. |
|
R
'Y-Adam' > M168 > M89 > > M9 > M45 >
M207 |
After spending considerable time in central
Asia, developing skills to survive in the harsh new conditions and
exploit new resources, a group from the
Central Asian Clan
began to head west toward the European subcontinent. An
individual in this clan was born with the new M207 mutation on his
Y-chromosome. His descendants ultimately split into two
distinct groups,; one group continuing westward onto the European
subcontinent and the other turning south to ultimately end its
journey in the Indian subcontinent.
The undifferentiated R lineage is currently found in India, Pakistan,
and central Asia at intermediate frequencies. |
|
R1
'Y-Adam' > M168 > M89 > > M9 > M45 >
M207 > M173 |
Members of Haplogroup R1 are descendants of Europe's first large
scale human settlers. Their lineage is defined by Y-chromosome
marker
M173, which shares a westward journey of
M207
central Asian
steppe hunters. The descendants of
M173
arrived in Europe
around 35,000 years ago and immediately began to make their own
dramatic mark on the continent. Soon after their arrival, the
era of the
Neandertals ended (Neandertals
lived in Europe from about 350,000
years ago to about 30,000 years ago).
The undifferentiated R1 lineage is quite rare. It is found only at
very low frequencies in Europe, Central Asia, and south Asia. |
|
R1a1
'Y-Adam' > M168 > M89 > M9 > M45 >
M207 > M173 > M17 |
About 10,000 to 15,000 years ago, a man of European origin was
born in present-day Ukraine or southern Russia, north of the Black
and Caspian seas. His nomadic descendants would eventually
carry his genetic marker, M17 from the
Eurasian Steppe to places as far
away as India and Iceland.
The
R1a1
lineage is believed to have originated in a population of
Kurgan culture, known for the
domestication of the horse (approximately 3000 B.C.E.). These
people were also believed to be the first speakers of the
Indo-European language group. This lineage is currently
found in central and western Asia and in Slavic populations of
Eastern Europe. |
|
R1b
'Y-Adam' > M168 > M89 > M9 > M207 > M173
> M343 |
About 30,000 years ago, a descendant of the
clan making its way into Europe a man was born with marker
M343, the
defining marker for Haplogroup
R1b.
These travelers are direct descendants of the people who dominated
the human expansion into Europe, the
Cro-Magnon. The Cro-Magnon
created the famous cave paintings found in southern France,
providing archaeological evidence of developing artistic skills as
humans moved into Europe.
Haplogroup R1b is now the most common Haplogroup in European
populations. It is believed to have expanded throughout Europe
as humans re-colonized after the last glacial maximum, 10 to 12
thousand years ago. This lineage is also the Haplogroup containing
the Atlantic modal haplotype.
[Haplogroup identified for descendants of Edmund “OSH” Knowles
(1685-1762)] |
|
R1b1
'Y-Adam' > M168 > M89 > M9 > M45 >
M207 > M173 > M343 |
Haplogroup
R1b1 is
the most common Haplogroup in European populations. It is
believed to have expanded throughout Europe as humans re-colonized
after the last glacial maximum, 10 to 12 thousand years ago. This
lineage is also the Haplogroup containing the Atlantic modal
haplotype.
[Haplogroup identified for descendants of
Edmund “Old Silverhead” Knowles (1685-1762)] |
|
R2
'Y-Adam' > M168 > M89 > > M9 > M45 >
M207 > M124 |
About 25,000 years ago, a man from southern
central Asia was born with the genetic marker
M124.
His descendants migrated to inhabit what is now Pakistan and further
east in modern-day India. The
R2
lineage also belongs to the second major human migration into India,
long after the first wave of African migrations from 50,000 to
60,000 years ago. Members of the
R2 Haplogroup are also found in
Eastern Europe among the Gypsy populations, indicating these
wandering peoples were originally from the Indian subcontinent. |
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To DNA 101
mtDNA
- HAPLOGROUPS
|
Specific mitochondrial Haplogroups are typically found in
different regions of the world, and this is due to unique population
histories. In the process of spreading around the world, many
populations with their special mitochondrial Haplogroups, became isolated,
and specific Haplogroups concentrated in geographic regions.
Today, we have identified certain Haplogroups that originated in Africa,
Europe, Asia, the islands of the Pacific, the Americas, and even particular
ethnic groups. Of course, Haplogroups that are specific to one region are
sometimes found in another, but this is due to recent migrations. |
|
mtDNA HAPLOGROUP DESCRIPTION TABLE |
|
NAME |
DESCRIPTION |
|
A |
Haplogroup A is found in eastern Eurasia and throughout the Americas. This
Haplogroup was present in the populations that initially colonized the
pre-Columbian Americas, and dates to at least 30,000 years ago. Future work will
resolve the issue of how many distinct colonization events there were in the
original peopling of the Americas, and the origin and role of individuals
bearing Haplogroup A. |
|
H
(Helena) |
Mitochondrial Haplogroup H is a predominantly European Haplogroup that
participated in a population expansion beginning approximately 30,000
years ago. Today, about 40% of all mitochondrial lineages in
Europe are classified as Haplogroup H. H is rather uniformly
distributed throughout Europe suggesting a major role in the peopling of
Europe. Its oldest lineages are found in the Near East and
the Caucasus, suggesting an origin or early arrival in these areas
before migration into Europe. More information about Haplogroup H and
its branches can be found below. |
|
I |
Principally a European Haplogroup, Haplogroup I is detected at very
low frequency across west Eurasia with slightly greater representation
in northern and western Europe. Given its wide, but sparse,
distribution, it is likely that it was present in those populations that
first colonized Europe. This hypothesis is supported by the estimate its
age—approximately 30,000 years. |
|
J
(Jasmine) |
The
mitochondrial Haplogroup J contains several sub-lineages. The
original Haplogroup J originated in the Near East approximately 50,000
years ago. Within Europe, sub-lineages of Haplogroup J have
distinct and interesting distributions. |
|
J* |
Haplogroup J*, the root lineage of Haplogroup J is found distributed
throughout Europe, but at a relatively low frequency. Haplogroup
J* is generally considered one of the prominent lineages that was part
of the Neolithic spread of agriculture into Europe from the Near East
beginning approximately 10,000 years ago. |
|
J1 |
Haplogroup J1 is found distributed throughout Europe, from Britain to
Iberia and along the Mediterranean coast. This widespread
distribution strongly suggests that Haplogroup J1 was part of the
Neolithic spread of agriculture into Europe from the Near East beginning
approximately 10,000 years ago. |
|
J2 |
Haplogroup J2 is particularly interesting because it has been detected
in Turkey, Italy, Sardinia, Iberia, and Iceland, all populations with
traditionally prominent fishing industries. This connection suggests
recent migration related to the economic opportunities offered by
fishing. |
|
K
(Katrine) |
The mitochondrial super Haplogroup U
encompasses Haplogroups U1-U7 and Haplogroup K. Haplogroup K is
found through Europe, and contains multiple closely related lineages
indicating a recent population expansion. The origin of
Haplogroup K dates to approximately 16,000 years ago, and it has been
suggested that individuals with this Haplogroup took part in the
pre-Neolithic expansion following the Last Glacial Maximum. |
|
L1b |
Part of the L cluster of Haplogroups, which has been concretely characterized
as representing the original human mitochondrial lineage, Haplogroup L1b is
found in Africa. This Haplogroup dates to approximately 30,000 years ago,
and is detected in highest frequency in north, west, and central Africa.
Future work will further document the historical distribution of this Haplogroup
and closely related Haplogroups of the L cluster. |
|
L3 |
Part of the L cluster of Haplogroups, which has been concretely characterized
as representing the original human mitochondrial lineage, Haplogroup L3 is found
in Africa. This Haplogroup dates to approximately 60,000 years ago, and is
detected throughout Africa. Future work will further document the
historical distribution of this Haplogroup and closely related Haplogroups of
the L cluster. |
|
L3b |
Part of the L cluster of Haplogroups, which has been concretely characterized
as representing the original human mitochondrial lineage, Haplogroup L3b is
found in Africa. This Haplogroup dates to approximately 20,000 years ago,
and is detected in highest frequency in north and west Africa. Future work
will further document the historical distribution of this Haplogroup and closely
related Haplogroups of the L cluster. |
|
T*
(Tara) |
The mitochondrial Haplogroup T is best characterized as a European lineage.
With an origin in the Near East greater than 45,000 years ago, the major
sub-lineages of Haplogroup T entered Europe around the time of the Neolithic
10,000 years ago. Once in Europe, these sub-lineages underwent a
dramatic expansion associated with the arrival of agriculture in Europe.
Today, we find Haplogroup T*, the root Haplogroup for Haplogroup T, widely
distributed in Europe. |
|
T1 |
The mitochondrial Haplogroup T is best characterized as a European lineage.
With an origin in the Near East greater than 45,000 years ago, the major
sub-lineages of Haplogroup T entered Europe around the time of the Neolithic
10,000 years ago. Once in Europe, these sub-lineages underwent a
dramatic expansion associated with the arrival of agriculture in Europe.
The origin of Haplogroup T1 dates to at least 6,000 years ago, and today, we
find Haplogroup T1 distributed in populations living in southeast, central, and
northwestern Europe.
|
|
T2 |
The mitochondrial Haplogroup T is best characterized as a European lineage.
With an origin in the Near East greater than 45,000 years ago, the major
sub-lineages of Haplogroup T entered Europe around the time of the Neolithic
10,000 years ago. Once in Europe, these sub-lineages underwent a
dramatic expansion associated with the arrival of agriculture in Europe.
Haplogroup T2 is one of the older sub-lineages and may have been present in
Europe as early as the Late Upper Palaeolithic.
|
|
U
(Ursula) |
The mitochondrial super Haplogroup U encompasses Haplogroups U1-U7 and
Haplogroup K. |
|
U3 |
Haplogroup U3 is found distributed throughout Europe, appearing, for example,
in higher frequencies in Sweden, Georgia, and Bulgaria, and is estimated to have
originated more than 12,000 years ago. A sub-lineage of Haplogroup
U3 is found distributed in southeast Europe, and it has been suggested that this
lineage was part of the Neolithic expansion bringing agriculture to Europe from
the Near East. |
|
U4 |
Haplogroup U4 has its origin in the Upper Palaeolithic, dating to
approximately 25,000 years ago. It is widely distributed in Europe,
and has been implicated in the expansion of modern humans into Europe occurring
before the Last Glacial Maximum.
|
|
U5 |
Haplogroup U5, with its own multiple lineages nested within, is the oldest
European-specific Haplogroup, and its origin dates to approximately 50,000 years
ago. Most likely arising in the Near East, and spreading into Europe
in a very early expansion, the presence of Haplogroup U5 in Europe pre-dates the
expansion of agriculture in Europe. |
|
U5a |
Haplogroup U5a—a lineage within U5 is somewhat younger, dating to
approximately 40,000 years ago, and is mostly distributed in southern Europe.
Interestingly, individuals with Haplogroup U5 and U5a may have been come in
contact with Neandertals living in Europe at the time. |
|
U5a1 |
Haplogroup U5a1 is a lineage within Haplogroup U5 arose in Europe
approximately 30,000 years ago, and is mainly found in northwest Europe.
In the context of its rather ancient origin, the modern distribution of
Haplogroup U5a1 suggests that individuals bearing this Haplogroup were part the
initial expansion tracking the retreat of ice sheets from Europe. |
|
U5a1a |
Haplogroup U5a1a is a lineage within Haplogroup U5 that arose in Europe less
than 20,000 years ago, and is mainly found in northwest and north-central
Europe. The modern distribution of Haplogroup U5a1a suggests that
individuals bearing this Haplogroup were part of the populations that had
tracked the retreat of ice sheets from Europe. |
|
U5b |
Haplogroup U5b is a lineage within U5 and is found distributed throughout
western and central Europe, and was present in the original European
populations. |
|
W |
Haplogroup W is derived from the N super Haplogroup, which
dates to approximately 65,000 years ago. The origin of Haplogroup W dates
to approximately 25,000 years ago, and it is mainly found distributed in west
Eurasia (or Europe). It is likely that individuals bearing this
lineage participated in the expansion into the bulk of Europe following the Last
Glacial Maximum. Future work, including obtaining more samples from
central Asia, will further refine the historical distribution of this Haplogroup
and better determine the role it played in the peopling of Europe. |
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To DNA 101
|
What does my H subclade
mean?
by
FTDNA.com
Three recent papers published in Molecular Biology and
Evolution, The American Journal of Human Genetics,
and Genome Research and led by Dr. Eva-Liis Loogväli and
Professor Richard Villems in Tartu, Estonia, and Dr. Alessandro
Achilli and Professor Antonio Torroni in Pavia, Italy, and Dr.
Luisa Pereira in Porto, Portugal, respectively, represent an
advance in understanding in haplogroup H, which represents about
40% of all maternal lineages in Europe, and stretches into
Western Asia as well.
Because this Haplogroup is dominant in West Eurasia, Family
Tree DNA began offering testing for sub-haplogroups H1-11 and
downstream variants in conjunction with the first published
paper, entitled Disuniting Uniformity: A Pied Cladistic
Canvas of mtDNA Haplogroup H in Eurasia. FTDNA
expects that this first anthropological attempt to offer genuine
resolution for H-clade mitochondria will begin to answer the
question that has been asked time and again concerning female
lineages: where (even approximately) do we come from; or because
Europe was re-settled after the end of the last Glacial Maximum,
more appropriately, where is my mtDNA most concentrated in
Eurasia. The paper defines Europeans as falling into
10 Haplogroups, known as H, J, K, N1, T, U4, U5, V, X and W.
Of interest also was the finding that base pairs 16093 and 16311
were the most variable being found in 7 different sub-clades of
Haplogroup H. FTDNA now extends genotyping to H1-H15 based
on information drawn from these papers mentioned above.
The papers use both control (aka HVR-1 and HVR-2) and coding
region mutations to organize the phylogeny of Haplogroup H and
offer some interesting geographical information not discussed in
print before. Further the papers highlight the most
polymorphic sites with clade H, based on fast, average and slow
mutating sites from within the HVR control region.
It’s clear from the study that the wave of the future will be
full genome scanning for mitochondria to offer the type of
resolution that we have become accustomed to when looking at the
non-recombining Y chromosome.
The chart above represents a combination of the results from
these papers. The second paper, regarding Torroni's work,
made minor corrections to the arrangements of the sub-clades on
the H sub-clade tree; the chart on this page represents the
corrected version.
One interesting note in the papers was that the ancestral
Haplogroups of H, R0 (formerly Pre-HV) and HV*, appear to be
Near/Middle Eastern and Caucasus in origin, which means that
those ancestral groups might have started to expand
(numerically) and diversify from there.
Our test is based on the most recent and comprehensive
scientific research describing the topology of H Haplogroup by
Achilli et al. 2004 as well as a few from Loogväli et al. 2004.
Upon ordering your test, your DNA will be tested for the
following complete list of SNPs that are diagnostic for
sub-Haplogroups H1-H15: 7028, 3010, 4769, 951, 750, 6776, 14365,
4336, 3915, 6869, 4793, 13101, 3591, 14470, 13759, 3936, 2259,
11377, 6253. Your final Haplogroup designation will be
made by the combined evaluation of the results of these
positions and the HVR-I and II information that cover any
position between 16001-16569 and 00073-00577 respectively.
What does my subclade mean to me? FTDNA has drawn together
descriptions of each branch of Haplogroup H, which are include
below. Look for your branch in this chart to read a brief
summary of what information is available about it so far.
If your specific subclade has only a very brief description, it
wasn’t detected enough to offer geographically proximity.
This is a failure of the sample size studied and not of your
sub-branch. Now that several papers have been published
certainly others will follow in short order and we expect that
those future papers will offer greater sample size and tighter
breakdowns to specific geographical locations.
The following is a simplified chart which displays the positions
FTDNA currently test and their corresponding Haplogroups:
 |
H - Mitochondrial Haplogroup H is a predominantly
European Haplogroup that participated in a population
expansion beginning approximately 20,000 years ago.
Today, about 40% of all mitochondrial lineages in Europe
are classified as Haplogroup H. It is rather
uniformly distributed throughout Europe suggesting a
major role in the peopling of Europe, and descendant
lineages of the original Haplogroup H appear in the Near
East as a result of migration. Future work will better
resolve the distribution and historical characteristics
of this Haplogroup. |
 |
H* - A Haplogroup assignment of H* indicates that you
belong to Haplogroup H, but not to any of the subclades
you were tested for and that were known at the time that
the test was performed. Since new subclades will
continue to be discovered, it is unreasonable and
expensive to test for each of the additional subclades
after each publication. The best way to resolve a
sample that is Haplogroup H* is through testing the full
mtDNA sequence. This test would provide us with
all of the mutations in a person’s mtDNA, which means
that that person would never need to do any additional
mtDNA testing. Even if they are still H* after the full
sequence test, their results can be immediately used to
attempt to identify a subclade when new subclades are
published. |
 |
H1 – H1 is the most common branch of Haplogroup H.
It represents 30% of people in Haplogroup H, and 46% of
the maternal lineages in Iberia. 13-14% of all Europeans
belong to this branch, and H1 is about 13,000 years old. |
 |
H1a – H1a is a branch of H1. Further research will
better resolve the distribution and historical
characteristics of this Haplogroup. |
 |
H1b – H1b is detected at its highest frequency in
Eastern Europe and North Central Europe. It
is also found in about 5% of Haplogroup H lineages in
Siberian Mansis. |
 |
H2 – H2 is somewhat common in Eastern Europe and the
Caucasus, but likely spread from Western Europe because
it is not found in significant frequency in the Near
East. It is found in its highest frequency
in Germany and Scotland.
H2a – Haplogroup H2a is found most frequently in Eastern
Europe, and at a low frequency in Western Europe.
Unlike its parent branch H2, H2a’s geographical
distribution extends to Central Asia. |
 |
H2b – H2b is the branch to which the CRS belongs.
Further research will better resolve the distribution
and historical characteristics of this Haplogroup. |
 |
H3 – H3 is the second most common branch of H. Like
H1, it is found mainly in Western Europe. However, H3 is
not found in significant frequencies in the Near East.
It is at its highest frequency in Iberia and Sardinia,
and is about 10,000 years old. |
 |
H4 – H4 is an uncommon branch and is found at low
frequencies in both Europe and the Near East. Further
research will better resolve the distribution and
historical characteristics of this Haplogroup. |
 |
H5 – H5 is distributed across Iberia, Central,
Eastern, and Southeastern Europe, and is also found at
low frequencies in the Near East, where it may have
originated. | | |