mtDNA Haplogroup A

Summary

Age: 24,208.8 ± 4,905.8; CI=95% (Behar et al., 2012b)
Origin: East Asia
Mutations: A235G A663G A1736G T4248C A4824G C8794T C16290T G16319A
FTDNA Tree: Link
Parent Branch: N
Descendant branch(s): A1 A10 A11 A12 A13 A14 A15 A16 A17 A18 A19 A2 A20 A21 A22 A23 A24 A25 A26 A3 A5 A6 A7 A8 A9

Background

Haplogroup A is a branch on the maternal tree of human kind. It is a child of major haplogroup N. It was likely born in East Asia around 24,000 years ago. (Behar et al., 2012b) Through historic travels, members of this line live across East Asia and the Americas.

Origin

The highest diversity of A branches is in East Asia. Because of that, researchers believe it was born there. That is also where the most members of this line live today. However, some descendants traveled to the Americas.

Those that reached the Americas belong to the A2 branch. While A2 is the branch of A found in the Americas, it is not exclusive to the Americas. It is also part of northeastern Siberian populations.

Age

Behar et al., 2012b placed the birth of the A lineage between 19,300 and 29,100 years ago. This means the line was born in the Upper Paleolithic. At the time, people were using stone tools.

Ancient DNA

One ancient DNA sample from South America belongs to this branch. It is the Ice Maiden, Juanita. Her burial site was in Peru. (Wilson et al., 2007)

There are also several A samples from ancient DNA extracted from teeth found in northwestern North America. (Malhi et al., 2004)

• Northern Plateau
  • Plateau Salish (Salisham language family) 3 out of 11 samples dating to about 200 BP
  • Vantage 2 out 7 samples dating to between 500 and 1500 BP
• Southern Plateau
  • Wishram (Chinook language family) 7 out of 33 samples dating to about 200 BP

DNA from ten grave sites on the Japanese islands of Hokkaido and Sakhalin were tested in Sato et al., 2009. From that paper, 2 out of 51 Ainu samples were A.

From Bronze Age grave sites in Russia, there are two A samples. One is A and the other A8a. The haplogroup A sample is from the Altai region and the Karasuk culture. The haplogroup A8a sample is from Siberia and the Okunevo culture. (Allentoft et al., 2015)

From an Iron Age grave site in Ukraine, there is one A sample. It is from a Scythian grave site on the Pontic steppe. (Juras et al., 2017b)

Timeline

This timeline is an overview of the A branch's history from the first early people to the birth of the first woman from the A lineage. (View in new tab.)

Pliocene

The human story began around 3 million years ago. This is when researchers have found the earliest stone tools created by our ancestors.

Most of the continents were as we know them today. Plants and animals began to look much like the ones we know today.

However, notable changes happened. The Indian subcontinent pushed further into Asia. From that, the Himalayas formed.

North and South America became connected. The new land barrier between North and South America cut off the Atlantic ocean from the Pacific ocean. This changed both the temperature of the Atlantic and the flow of currents. In turn, the weather was impacted.

Sea levels fell. This joined Africa to Eurasia and Eurasia to North America. The ice caps on both the north and south pole grew. Glaciers began to form.

Early ancient peoples such as Homo habilis, Australopithecus, and Homo erectus lived in Africa. From fossil records, we know that many different branches on the human tree existed at the same time. Unfortunately, no DNA exists. Thus, we do not know how distinctive their maternal lines were.

At times, these different groups lived side by side. At others, they were separated by great distances.

Besides stone tools, some may have learned how to use fire.

Pleistocene

Lower Paleolithic

The earth continued with a cooling trend. Early humans formed small groups. They worked together to gather plants, to fish, and to scavenge for meat.

Earlier humans were replaced with Homo sapiens, Neanderthals, Denisovans, and perhaps others.

Lower Paleolithic – Flint Biface

Groups began creating better stone tools. They also made wooden tools. Tools included hand axes and choppers.

Some groups made houses from wood. Others created the first rafts. The first human language developed.

Middle Paleolithic

Our earliest human ancestor was born in the Middle Paleolithic. She was only one of many homo sapian women alive at the time. Her maternal line was separate from that of Neanderthals and Denisovans. Yet, from these groups and from her own close relatives, hers is the only one to have living direct maternal descendants. We only know of the Neanderthal, Denisovan, and other Homo Sapiens maternal lines through ancient DNA testing.

Today, we call her mitochondrial Eve. She is represented by the RSRS sequence. It is at the root of our maternal tree.

Eve has two surviving daughter lines. One is L1’2’3’4’5’6. This is the ancestor of A. Born about 152,970 years ago in Africa, this line lived much as her ancestors did.

The next three branch points in the journey all took place in Africa. L1'2'3'4'5'6 was born 139,217 BP. L2’3’4’6 was born about 111,247 BP. L3'4'6 was born about 71,384 BP.

While these women may not have traveled far from their ancestral birth place, they were part of slow steady cultural development. From small groups, people moved to nomadic bands. These may have been at times 20 to 30 people and at others 25 to 100 people.

The earliest known ritual grave sites date to 130,000 and 100,000 years ago. This hints that early spiritual beliefs may have developed around this time.

From the daughters of L3'4'6, two lines followed each other closely. L3'4'6 gave rise to L3'4. Then, L3 quickly followed L3'4. Both L3'4 and L3 were born around 65,000 years ago. At the time, there may have been a rapid population expansion. Researchers believe that it was soon after L3's birth that groups of people began a new wave of travel out of Africa. She did not take part. Her descendants were at the front of this wave though.

One of L3's migrant daughter lines is N.

Born about 58,860 BP, N lived in the land between East Africa and Asia. Her descendants moved first into West Asia and then further into Central and then East Asia.

At this point in her journey, there is a long pause before another surviving daughter line is born. A daughter of N, A was born in the next phase of the human journey.

Upper Paleolithic

About 50,000 years ago, the rate of human development accelerated. This happened alongside the wave of migration from Africa.

Stone Animal

From this time, researchers have found camp sites with storage area. Cave paintings became more frequent. Stone tools became specialized. These tools included projectile points, engraving tools, knife blades, and drilling and piercing tools.

People began to carve figures from bone and antler.

As they traveled out of Africa, homo sapiens meet with both Neanderthal and Denisovan groups. We know from DNA that the out of Africa travelers intermixed with both populations. We also know that Neanderthals and Denisovans intermixed with each other.

One of the distinctions of Neanderthal groups is that their craftsmanship of stone tools did not advance. The last of the Neanderthal sites dates to around 40,000 years ago.

About 26,500 marked the start of the last ice age. Glaciers expanded across much of Eurasia. This forced both wild game and people back into smaller areas.

The first woman with the markers for mtDNA haplogroup A was born during the last ice age. She would have belonged to a group that followed big game across Asia. About 19,000 years ago, the last ice age ended, and the glaciers began to retreat. This was a slow process over the next several thousand years.

Researchers have found that around 13,000 years ago, a population expansion began in Asia. This may or may not be linked to climate changes.

We know though that about 9,000 years ago the earth's temperature reached about what it is today.

Mesolithic & Neolithic

Depending on the group, the Mesolithic and Neolithic periods followed. The Mesolithic saw rapid advances in tools and cultural change. The Neolithic saw the beginning of farming culture. This included more animal domestication.

From here, the mtDNA haplogroup A journey continued with daughter lines. If you have tested your full mtDNA genome, and A is your final branch, please contact me. I would be happy to help figure out your more recent deep ancestry with you.

Modern Populations

Today, A* is rare. Most people belong to a named daughter lineage. However, A as a whole is wide spread across much of Asia and in the Americas. Top population frequencies include Eskimos in Greenland (96.1% Volodko et al., 2008) and the Navajo in the United States Southwest (51.6% Malhi et al., 2003).

Celebrity DNA

Eva Longoria is an actress and a business woman. Her mtDNA haplogroup is A2 which is Native American. (Faces of America)

Literature Review

GenBank A* Samples

Very few people today belong to the main branch of haplogroup A. Instead, they belong to one of its descendant branches. However, there are some. There are three such samples in the GenBank database. The first person is an ethnic Han from Wuhan, Hubei. Their result was published in Kong et al., 2003. The second and third are also Han Chinese. They are part of the 1K genomes data set and were published in Zheng et al., 2011.

Geno 2.0 A* Samples

In Genographic data, members of this branch that do not belong to a daughter branch come from Afghanistan, China, Japan, Malaysia, Poland, and Turkey.

Lower Resolution A Samples

In most of these papers, HVR1 or HVR1 & HVR2 are tested. The researchers may do extra testing to confirm major branches.

Asari at al., 2007

Utility of haplogroup determination for forensic mtDNA analysis in the Japanese population

This is a forensic DNA paper. It looked at HVR1 and HVR2 in Japanese samples.

Derenko et al., 2007

Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations

Derenko et al., 2007 looked at HVR1 and HVR2 from over a thousand samples from northern, central, eastern, and southwestern Asia. This paper provides frequencies for A in many populations.

Significantly, it found the Native American A2 lineage in the Chukchi population. The Chukchi are an Eskimo like group from northeastern Asia.

Derenko et al., 2012

Complete mitochondrial DNA analysis of eastern Eurasian haplogroups rarely found in populations of northern Asia and eastern Europe

Derenko et al., 2012 did extensive testing of many mtDNA samples at the full sequence level. Unfortunately, they did not test the haplogroup A samples at that level. The paper does provide frequencies for A in the Barghut and Kazakh populations.

Dulik et al., 2012

Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians

Dulik et al., 2012 tested HVR1 & HVR2 from population in the Altai region of southern Siberia. They also confirmed major branches with extra testing.

Fedorova et al., 2013

Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia

Fedorova et al., 2013 tested populations from the Sakha region of south Siberia. This included Yakuts, Evenks, Evens, Yukaghirs and Dolgans.

Care should be taken to check the definition of the A8 and A10 branches in this paper against the current tree.

Fuku et al., 2007

Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in Asians

Fuku et al., 2007 is a medical paper. The researchers looked for links between diabetes and mtDNA haplogroups. It is useful because it includes more population information from Korea and Japan.

Ji et al., 2012

Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans

Ji et al., 2012 is a medical paper. It looked for the effect of mtDNA haplogroup on Leber hereditary optic neuropathy. That is a disease that causes blindness.

It importantly tested populations from Tibet. Care should be taken with the definition of A1 in this 2012 paper.

Jin et al., 2009

The Peopling of Korea Revealed by Analyses of Mitochondrial DNA and Y-Chromosomal Markers

Jin et al., 2009 looked at HVR1 and HVR2 results. The authors propose connections between founding Korean populations and the East Asian mainland.

Kim et al., 2008

Mitochondrial DNA haplogroup analysis reveals no association between the common genetic lineages and prostate cancer in the Korean population

Kim et al., 2008 is a medical paper. It refutes mtDNA links to some cancers.

Kong et al., 2003

Phylogeny of East Asian Mitochondrial DNA Lineages Inferred from Complete Sequences

Kong et al., 2003 included high resolution sequencing of over 2,000 mtDNA samples from East Asia.

Li et al., 2007

Tujia women

Mitochondrial DNA diversity and population differentiation in southern East Asia

Li et al., 2007 looked for connections between the Daic population and surrounding populations. Of those tested in the paper, only the Yi, the Tujia, and the Dong included mtDNA haplogroup A.

Liu et al., 2011

Mitochondrial DNA polymorphisms in Gelao ethnic group residing in Southwest China

Liu et al., 2011 studied the maternal lineages of the Gelao people in China. It found connections to both northern and southern lineages. Haplogroup A was considered one of the northern lineages.

Malhi et al., 2003

Native American mtDNA prehistory in the American Southwest

Malhi et al., 2003 tested HVR1 in population groups from southwestern North America.

Malhi et al., 2004

Patterns of mtDNA Diversity in Northwestern North America

Malhi et al., 2004 looked at HVR1 results from modern populations and ancient DNA in northwestern North America.

Malyarchuk et al., 2010

Mitogenomic Diversity in Tatars from the Volga-Ural Region of Russia

This study looked at the mtDNA from Kazan Tatars and from Mishars. The Mishars were tested at high resolution.

Maruyama et al., 2003

Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population

This is an early paper, but the researchers tested HVR1, HVR2, and a panel of coding region variants to find haplogroups. The newly tested samples are all from Japan.

Peng et al., 2011

Tracing the legacy of the early Hainan Islanders – a perspective from mitochondrial DNA

The authors tested HVR1 & HVR2 in people from the Hainan Island. They were interested in detecting traces of migrations in the Upper Pleistocene.

Pimenoff et al., 2008

Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers

Pimenoff tested HVR1 in over 3 thousand people from two Northwestern Asian populations. Interestingly, the number of A was very low in these groups.

Qian et al., 2001

Mitochondrial DNA polymorphisms in Yunnan nationalities in China

Qian et al., 2001 tested people from the Yunnan sub-populations: Dai, Wa, Lahu, and Tibet. Of these, the Wa had 1/22 A branch members.

Sato et al., 2009

Mitochondrial DNA haplogrouping of the Okhotsk people based on analysis of ancient DNA: an intermediate of gene flow from the continental Sakhalin people to the Ainu

Sato et al., 2009 tested ancient DNA from grave sites near the Okhotsk sea. They tested HVR1, HVR2, and select coding region variants.

Starikovskaya et al., 2005

Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups

Starikovskaya et al., 2005 tested HVR1 and select coding region variants from Siberian populations. They were looking for links to founding lineages in the Americas. They found the Native American A2 branch in Siberian Eskimos, Chukchi, and Koryak.

Uchiyama et al., 2007

Mitochondrial DNA Sequence Variation and Phylogenetic Analysis in Japanese Individuals from Miyazaki Prefecture

The authors looked at HVR1 in Japanese from Miyazaki Prefecture.

Umetsu et al., 2005

Multiplex amplified product‐length polymorphism analysis of 36 mitochondrial single‐nucleotide polymorphisms for haplogrouping of East Asian populations

The authors used an mtDNA SNP panel to find the haplogroups in Japanese, Korean, Chinese, and German samples.

Volodko et al., 2008

Mitochondrial genome diversity in arctic Siberians, with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americas

The authors tested Native American people from Alaska and Native Siberians using an mtDNA SNP panel.

Wen et al., 2004a

Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans

Wen et al., 2004a tested Tibeto-Burman samples across China. They looked for signs of admixture with other East Asian populations in the last three thousand years.

Wen et al., 2004b

Genetic structure of Hmong-Mien speaking populations in East Asia as revealed by mtDNA lineages

Wen et al., 2004b tested HVR1 and additional markers in Hmong-Mien populations.

Yao & Zhang, 2002

Phylogeographic analysis of mtDNA variation in four ethnic populations from Yunnan Province: new data and a reappraisal

The authors looked at HVR1 and HVR2 results from Han and related populations. They also tested part of the mtDNA coding region.

Zhao et al., 2010

Gene flow between Zhuang and Han populations in the China–Vietnam borderland

Zhao et al., 2010 studied links between the Minz in Napo county, China and near by groups. Of these groups, the Zhuang included the haplogroup A lineage.

Zheng et al., 2011

Major Population Expansion of East Asians Began before Neolithic Time: Evidence of mtDNA Genomes

In this high resolution study the authors looked at the expansion date for maternal lineages in Asia. They found that populations began to grown and expand before the farming revolution.

The growth dates from 13 thousand years ago till 4 years ago. This suggests that the farming revolution was driven by and not the cause of the population expansion.

National Geographic 2.0 Information

This information comes from the 2012 update of the National Geographic Genographic Project website.

Map

mtDNA Haplogroup A – Geno 2.0 Author: Balanovsky, O. et al., 2011 Copyright: National Geographic

Text

mtDNA Haplogroup A Phylotree History

Phylotree.org is the maternal (mtDNA) tree of humanity. It is maintained by Dr. Mannis Van Oven. Each build is a major update to the tree. The current build is #17.

mtDNA Haplogroup A Data Sources

GenBank Samples

GenBank is a database of genetic sequence data. It is run by the United States National Institute of Health. It serves as the main repository for mtDNA full sequence profiles. Samples come both from published academic literature and donations from genetic genealogy community members. In addition to GenBank samples, listings below may include other samples published but not submitted to GenBank such as those from the HapMap project.

Note: GenBank results currently use Phylotree build 16. I am working on changing resuts over to build 17.

Geno 2.0 Data

Data from Geno 2.0 is derived from the The National Geographic Society’s Genographic Project — the DAR. The Hg ID is specific to this site and is used to protect the identities of those who take part in Genographic research. Birth Country, Mother's Birth Country, and Maternal Grandmother's Birth Country have been normalized from DAR database fields. The Maternal Origin is determined based on the three previous fields.

Note: Geno 2.0 results currently use Phylotree build 16. I am working on changing resuts over to build 17.

If you use the information in this table, please credit both this site and The National Geographic Society’s Genographic Project.

Sources & Resources

Related Sources

Additional Resources

• Ian Logan's mtDNA Pages
• Ian Logan's Instructions for mtGenome Genbank Donation
• James Lick's mtDNA Utility
• The FTDNA Haplogroup Project for Haplogroup A2
• The Wikipedia Article for Haplogroup A

mtDNA Consultants

The following members of the community offer paid consulting for those seeking help with mtDNA results. Inclusion on this list is not a recommendation or endorsement of any service.

• DNA Explorers – Robert Sliwinski
• Genetic Genealogy Consultant – Ugo Perego
• Your DNA Guide – Diahan Southard