KNOWLES / KNOLES / NOLES
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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

Y - DNA  Haplogroups             Haplogroup  FAQs              mtDNA  Haplogroups


 

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:

Y-DNA Haplogroup Tree

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

Genetics  Books

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.

Genographic Project

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.

Haplogroup Map

 


Y - HAPLOGROUP  DESCRIPTIONS

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.
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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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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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:

 

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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.

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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.

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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.

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H1a – H1a is a branch of H1. Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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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.

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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.

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H2b – H2b is the branch to which the CRS belongs.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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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.

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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.

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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.

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H5a – H5a is found at its highest frequency in Central Europe and is about 7-8 thousand years old.  It is found at low frequency in Europe, and since it is not found or is rare in the Caucasus and the Near East it likely has a European origin.

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H6 – H6 is an older branch of Haplogroup H. Its age is estimated at around 40,000 years.  Studies suggest that this Haplogroup is Middle Eastern or Central Asian in origin. It is also found at very low frequencies in Europe. Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H6a – H6a has similar distribution to its parent branch H6. Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H6c – H6c is found at very low frequency, and can be found in European populations. Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H7 – H7 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.

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H8 – Like H6, H8 has roots in the Near East and Central Asia. It is very uncommon in Europe. Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H9 – H9 is an uncommon branch of H.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H10 – H10 is an uncommon branch of H.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H11 – H11 is an uncommon branch of H.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H12 – H12 is an uncommon branch of H. Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H13 – H13 is an uncommon branch and is found at low frequencies in Europe, the Near East, and the Caucasus.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H14 – H14 is an uncommon branch of H.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.

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H15 – H15 is an uncommon branch of H.  Further research will better resolve the distribution and historical characteristics of this Haplogroup.
 

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