Haplogroup N (mtDNA)
Encyclopedia
In human mitochondrial genetics
, Haplogroup N is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling M
, is a descendant of haplogroup L3
.
All mtDNA haplogroups found outside of Africa are descendants of either haplogroup N or its sibling haplogroup M. M and N are the signature haplogroups that define the out of Africa migration and the subsequent spread to rest of the world
. The global distribution of haplogroups N and M, indicates that very likely, there was one particularly major prehistoric migration of humans out of Africa, and both N and M were part of the same colonization process.
Torroni et al. 2006 state that Haplogroups M, N and R occurred somewhere between East Africa and the Persian Gulf.
Also related to the origins of haplogroup N is whether ancestral haplogroups M, N and R were part of the same migration out of Africa, or whether Haplogroup N left Africa via the Northern route through the Levant, and M left Africa via Horn of Africa. This theory was suggested because haplogroup N is by far the predominant haplogroup in Western Eurasia, and haplogroup M is absent in Western Eurasia, but is predominant in India and is common in regions East of India. However, the mitochondrial DNA variation in isolated "relict" populations in southeast Asia and among Indigenous Australians supports the view that there was only a single dispersal from Africa. Southeast Asian populations and Indigenous Australians all possess deep rooted clades of both haplogroups M and N. The distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania therefore supports a three-founder-mtDNA scenario and a single migration route out of Africa. These findings also highlight the importance of Indian subcontinent in the early genetic history of human settlement and expansion.
"the lack of L3 lineages other than M and N in India and among non-African mitochondria in general suggests that the earliest migration(s) of modern humans already carried these two mtDNA ancestors, via a departure route over the Horn of Africa
.
. Subclades such as Haplogroup U6, are also found at moderate to low frequencies in the Northwest and East Africa, due to a back migration from Asia around 35,000 years ago.
, Stephen Oppenheimer
refers to haplogroup N as "Nasreen" as haplogroup N may have arisen near the Persian Gulf. In his popular book The Seven Daughters of Eve
, Bryan Sykes named the originator of this mtDNA haplogroup "Naomi".
(and its descendants) and haplogroups A
, I
, S
, W
, X
, and Y
.
Additionally there are several unnamed N* lineages in South Asia, Australia and among the Ket people of central Siberia.
}
Human mitochondrial genetics
Human mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
, Haplogroup N is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning many continents, the macro-haplogroup N, like its sibling M
Haplogroup M (mtDNA)
In human mitochondrial genetics, Haplogroup M is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling N, is a descendant of haplogroup L3....
, is a descendant of haplogroup L3
Haplogroup L3 (mtDNA)
In human mitochondrial genetics, Haplogroup L3 is a human mitochondrial DNA haplogroup. Haplogroup L3 has played a pivotal role in the history of the human species...
.
All mtDNA haplogroups found outside of Africa are descendants of either haplogroup N or its sibling haplogroup M. M and N are the signature haplogroups that define the out of Africa migration and the subsequent spread to rest of the world
Early human migrations
Early human migrations began when Homo erectus first migrated out of Africa over the Levantine corridor and Horn of Africa to Eurasia about 1.8 million years ago, a migration probably sparked by the development of language Early human migrations began when Homo erectus first migrated out of Africa...
. The global distribution of haplogroups N and M, indicates that very likely, there was one particularly major prehistoric migration of humans out of Africa, and both N and M were part of the same colonization process.
Origins
There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade). However, whether or not the mutations which define haplogroup N itself first occurred within Asia or Africa has been a subject for ongoing discussion and study.The out of Africa hypothesis has gained generalized consensus. However, many specific questions remain unsettled. To know whether the two M and N macrohaplogroups that colonized Eurasia were already present in Africa before the exit is puzzling.
Torroni et al. 2006 state that Haplogroups M, N and R occurred somewhere between East Africa and the Persian Gulf.
Also related to the origins of haplogroup N is whether ancestral haplogroups M, N and R were part of the same migration out of Africa, or whether Haplogroup N left Africa via the Northern route through the Levant, and M left Africa via Horn of Africa. This theory was suggested because haplogroup N is by far the predominant haplogroup in Western Eurasia, and haplogroup M is absent in Western Eurasia, but is predominant in India and is common in regions East of India. However, the mitochondrial DNA variation in isolated "relict" populations in southeast Asia and among Indigenous Australians supports the view that there was only a single dispersal from Africa. Southeast Asian populations and Indigenous Australians all possess deep rooted clades of both haplogroups M and N. The distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania therefore supports a three-founder-mtDNA scenario and a single migration route out of Africa. These findings also highlight the importance of Indian subcontinent in the early genetic history of human settlement and expansion.
Asian origin hypothesis
The hypothesis of Asia as the place of origin of haplogroup N is supported by the following:- Haplogroup N is found in all parts of the world but has low frequencies in Sub-Saharan Africa. According to a number of studies, the presence of Haplogroup N in Africa is most likely the result of back migration from Eurasia.
- The oldest clades of macrohaplogroup N are found in Asia and Australia.
- It would be paradoxical that haplogroup N had traveled all the distance to Australia or New World yet failed to affect other populations within Africa besides North Africans and Horn Africans.
- N1 is the only sub-clade of haplogroup N that has been observed in Africa. However N1aHaplogroup N1a (mtDNA)In human mitochondrial genetics, Haplogroup N1a is a mitochondrial DNA haplogroup.-Origin:N1a originated in the Near East 12,000 to 32,000 years ago. Specifically, the Arabian Peninsula is postulated as the geographic origin of N1a. This supposition is based on the relatively high frequency and...
is the only one in East Africa: this haplogroup is even younger and is not restricted to Africa, N1a has also been detected in Southern SiberiaSiberiaSiberia is an extensive region constituting almost all of Northern Asia. Comprising the central and eastern portion of the Russian Federation, it was part of the Soviet Union from its beginning, as its predecessor states, the Tsardom of Russia and the Russian Empire, conquered it during the 16th...
and was found in a 2,500-year-old Scytho-Siberian burial in the Altai region.
African origin hypothesis
According to Toomas KivisildToomas Kivisild
Toomas Kivisild, is an Estonian geneticist. He graduated in 1992 as a zoologist, and completed his Ph.D. at the Estonian Biocentre research institute. He is a professor of human evolutionary genetics at Cambridge University and his main work has focused on human mtDNA variation.Stephen...
"the lack of L3 lineages other than M and N in India and among non-African mitochondria in general suggests that the earliest migration(s) of modern humans already carried these two mtDNA ancestors, via a departure route over the Horn of Africa
Horn of Africa
The Horn of Africa is a peninsula in East Africa that juts hundreds of kilometers into the Arabian Sea and lies along the southern side of the Gulf of Aden. It is the easternmost projection of the African continent...
.
Distribution
Haplogroup N is derived from the ancestral L3 haplotype that represents the 'Out of Africa' migration. Haplogroup N is the ancestral haplogroup to almost all European and Oceanian haplogroups in addition to many Asian and Amerindian ones. It is believed to have arisen at a similar time to haplogroup MHaplogroup M (mtDNA)
In human mitochondrial genetics, Haplogroup M is a human mitochondrial DNA haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling N, is a descendant of haplogroup L3....
. Subclades such as Haplogroup U6, are also found at moderate to low frequencies in the Northwest and East Africa, due to a back migration from Asia around 35,000 years ago.
In popular science
In the book The Real EveThe Real Eve
The Real Eve is the title of a popular science book written by Stephen Oppenheimer and a documentary based on the book.The book is largely based on the "Out of Africa theory" of human origins...
, Stephen Oppenheimer
Stephen Oppenheimer
Stephen Oppenheimer is a British paediatrician, geneticist, and writer. He is a member of Green Templeton College, Oxford and an honorary fellow of Liverpool School of Tropical Medicine, and carries out and publishes research in the fields of genetics and human prehistory.-Career:Oppenheimer...
refers to haplogroup N as "Nasreen" as haplogroup N may have arisen near the Persian Gulf. In his popular book The Seven Daughters of Eve
The Seven Daughters of Eve
The Seven Daughters of Eve is a book by Bryan Sykes that presents the theory of human mitochondrial genetics to a general audience...
, Bryan Sykes named the originator of this mtDNA haplogroup "Naomi".
Subgroups distribution
Its derived haplogroups include the macro-haplogroup RHaplogroup R (mtDNA)
In human mitochondrial genetics, haplogroup R is a very extended mitochondrial DNA haplogroup and is the most common macro-haplogroup in West Eurasia.Haplogroup R is a descendant of macro-haplogroup N...
(and its descendants) and haplogroups A
Haplogroup A (mtDNA)
In human mitochondrial genetics, Haplogroup A is a human mitochondrial DNA haplogroup.-Origin:Haplogroup A is believed to have arisen in Asia some 30,000-50,000 years before present...
, I
Haplogroup I (mtDNA)
-Origin:Its ancestral haplogroup was N1. Its closest relative is N1e. Haplogroup I is believed to have arisen somewhere in Eurasia some 30,000 years before present, and been one of the first haplogroups to move into Europe.-Distribution:...
, S
Haplogroup S (mtDNA)
In human genetics, Haplogroup S is a human mitochondrial DNA haplogroup. It is a descendant of macrohaplogroup N.-Tree:This phylogenetic tree of haplogroup S subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial...
, W
Haplogroup W (mtDNA)
-Distribution:Haplogroup W appears in Europe, West and South Asia.It is everywhere found as minority clade, with the highest concentration being in Northern Pakistan...
, X
Haplogroup X (mtDNA)
In human mitochondrial genetics, Haplogroup X is a human mitochondrial DNA haplogroup. It has a widespread global distribution but no major regions of distinct localization.-Origin:...
, and Y
Haplogroup Y (mtDNA)
In human mitochondrial genetics, Haplogroup Y is a human mitochondrial DNA haplogroup.-Distribution:Haplogroup Y has been found in approximately 66% of Nivkhs and approximately 20% of Ainus. However, this haplogroup also has been found in approximately 2% of Koreans, and in South Siberian and...
.
- Haplogroup N1'5
- Haplogroup N1 - found in West Eurasia.
- Haplogroup N1b - found in Middle EastMiddle EastThe Middle East is a region that encompasses Western Asia and Northern Africa. It is often used as a synonym for Near East, in opposition to Far East...
, Egypt, Caucasus and Europe - N1a'c'd'e'I
- Haplogroup N1c - Northern Saudi Arabia, Turkey
- N1a'd'e'I
- Haplogroup N1d - HindustanHindustanHindustan or Indostan, literal translation "Land of River Sindhu ", is one of the popular names of South Asia. It can also mean "the land of the Hindus"...
- N1a'e'I
- Haplogroup N1aHaplogroup N1a (mtDNA)In human mitochondrial genetics, Haplogroup N1a is a mitochondrial DNA haplogroup.-Origin:N1a originated in the Near East 12,000 to 32,000 years ago. Specifically, the Arabian Peninsula is postulated as the geographic origin of N1a. This supposition is based on the relatively high frequency and...
- Arabian Peninsula, Tanzania, Kenya, Ethiopia and Egypt. Found also in Central Asia and Southern Siberia. - N1e'I
- Haplogroup N1e - found in BuryatsBuryatsThe Buryats or Buriyads , numbering approximately 436,000, are the largest ethnic minority group in Siberia and are mainly concentrated in their homeland, the Buryat Republic, a federal subject of Russia...
- Haplogroup IHaplogroup I (mtDNA)-Origin:Its ancestral haplogroup was N1. Its closest relative is N1e. Haplogroup I is believed to have arisen somewhere in Eurasia some 30,000 years before present, and been one of the first haplogroups to move into Europe.-Distribution:...
- West Eurasia and South Asia.
- Haplogroup N1e - found in Buryats
- Haplogroup N1a
- Haplogroup N1d - Hindustan
- Haplogroup N1b - found in Middle East
- Haplogroup N5 - found in IndiaIndiaIndia , officially the Republic of India , is a country in South Asia. It is the seventh-largest country by geographical area, the second-most populous country with over 1.2 billion people, and the most populous democracy in the world...
.
- Haplogroup N1 - found in West Eurasia.
- Haplogroup N2
- Haplogroup N2a - small clade found in West Europe.
- Haplogroup WHaplogroup W (mtDNA)-Distribution:Haplogroup W appears in Europe, West and South Asia.It is everywhere found as minority clade, with the highest concentration being in Northern Pakistan...
- found in Western Eurasia and South Asia
- Haplogroup N9 - found in Far East.
- Haplogroup N9a - East Asia, Southeast Asia and Central Asia.
- Haplogroup N9b - found in Japan.
- Haplogroup YHaplogroup Y (mtDNA)In human mitochondrial genetics, Haplogroup Y is a human mitochondrial DNA haplogroup.-Distribution:Haplogroup Y has been found in approximately 66% of Nivkhs and approximately 20% of Ainus. However, this haplogroup also has been found in approximately 2% of Koreans, and in South Siberian and...
- found especially among Nivkhs, AinusAinu peopleThe , also called Aynu, Aino , and in historical texts Ezo , are indigenous people or groups in Japan and Russia. Historically they spoke the Ainu language and related varieties and lived in Hokkaidō, the Kuril Islands, and much of Sakhalin...
, and the population of Nias IslandNiasNīas is an island off the western coast of Sumatra, Indonesia. Nias is also the name of the archipelago, containing the Hinako archipelago....
, with a moderate frequency among Koreans, MongolsMongolsMongols ) are a Central-East Asian ethnic group that lives mainly in the countries of Mongolia, China, and Russia. In China, ethnic Mongols can be found mainly in the central north region of China such as Inner Mongolia...
, Tungusic peoples, KoryaksKoryaksKoryaks are an indigenous people of Kamchatka Krai in the Russian Far East, who inhabit the coastlands of the Bering Sea to the south of the Anadyr basin and the country to the immediate north of the Kamchatka Peninsula, the southernmost limit of their range being Tigilsk. They are akin to the...
, ItelmensItelmensThe Itelmen, sometimes known as Kamchadal, are an ethnic group who are the original inhabitants living on the Kamchatka Peninsula in Russia. The Itelmen language is distantly related to Chukchi and Koryak, forming the Chukotko-Kamchatkan language family, but it is now virtually extinct, the vast...
, ChineseChinese peopleThe term Chinese people may refer to any of the following:*People with Han Chinese ethnicity ....
, JapaneseJapanese peopleThe are an ethnic group originating in the Japanese archipelago and are the predominant ethnic group of Japan. Worldwide, approximately 130 million people are of Japanese descent; of these, approximately 127 million are residents of Japan. People of Japanese ancestry who live in other countries...
, TajiksTajiksTajik is a general designation for a wide range of Persian-speaking people of Iranic origin, with traditional homelands in present-day Afghanistan, Tajikistan, and Uzbekistan...
, Island Southeast Asians (including Taiwanese aboriginesTaiwanese aboriginesTaiwanese aborigines is the term commonly applied in reference to the indigenous peoples of Taiwan. Although Taiwanese indigenous groups hold a variety of creation myths, recent research suggests their ancestors may have been living on the islands for approximately 8,000 years before major Han...
), and some Turkic peoplesTurkic peoplesThe Turkic peoples are peoples residing in northern, central and western Asia, southern Siberia and northwestern China and parts of eastern Europe. They speak languages belonging to the Turkic language family. They share, to varying degrees, certain cultural traits and historical backgrounds...
- Haplogroup O or N12- found in AustraliaAustraliaAustralia , officially the Commonwealth of Australia, is a country in the Southern Hemisphere comprising the mainland of the Australian continent, the island of Tasmania, and numerous smaller islands in the Indian and Pacific Oceans. It is the world's sixth-largest country by total area...
and FloresFloresFlores is one of the Lesser Sunda Islands, an island arc with an estimated area of 14,300 km² extending east from the Java island of Indonesia. The population was 1.831.000 in the 2010 census and the largest town is Maumere. Flores is Portuguese for "flowers".Flores is located east of Sumbawa...
, Indonesia. - Haplogroup N13 - Australia
- Haplogroup N14 - Australia
- Haplogroup N21 - In ethnic Malays from Malaysia and Indonesia.
- Haplogroup N22 - Southeast Asia
- Haplogroup AHaplogroup A (mtDNA)In human mitochondrial genetics, Haplogroup A is a human mitochondrial DNA haplogroup.-Origin:Haplogroup A is believed to have arisen in Asia some 30,000-50,000 years before present...
- found in Central and East Asia, as well as among Native Americans. - Haplogroup SHaplogroup S (mtDNA)In human genetics, Haplogroup S is a human mitochondrial DNA haplogroup. It is a descendant of macrohaplogroup N.-Tree:This phylogenetic tree of haplogroup S subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial...
- extended among Australian Aborigines - Haplogroup XHaplogroup X (mtDNA)In human mitochondrial genetics, Haplogroup X is a human mitochondrial DNA haplogroup. It has a widespread global distribution but no major regions of distinct localization.-Origin:...
- most common in Western Eurasia.- Haplogroup X1 - found primarily in North Africa as well as in some populations of the Levant, notably among Druzes
- Haplogroup X2 - found in Western Eurasia, Siberia and among Native Americans
- Haplogroup RHaplogroup R (mtDNA)In human mitochondrial genetics, haplogroup R is a very extended mitochondrial DNA haplogroup and is the most common macro-haplogroup in West Eurasia.Haplogroup R is a descendant of macro-haplogroup N...
- a very extended and diversified macro-haplogroup.
Additionally there are several unnamed N* lineages in South Asia, Australia and among the Ket people of central Siberia.
Tree
This phylogenetic tree of haplogroup N subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation and subsequent published research.- N
- N1'5
- N1
- N1a'c'd'e'I
- N1a'd'e'I
- N1a'e'I
- N1aHaplogroup N1a (mtDNA)In human mitochondrial genetics, Haplogroup N1a is a mitochondrial DNA haplogroup.-Origin:N1a originated in the Near East 12,000 to 32,000 years ago. Specifically, the Arabian Peninsula is postulated as the geographic origin of N1a. This supposition is based on the relatively high frequency and...
- N1a1
- N1a1a
- N1a1
- N1e'I
- IHaplogroup I (mtDNA)-Origin:Its ancestral haplogroup was N1. Its closest relative is N1e. Haplogroup I is believed to have arisen somewhere in Eurasia some 30,000 years before present, and been one of the first haplogroups to move into Europe.-Distribution:...
- N1e
- I
- N1a
- N1d
- N1a'e'I
- N1c
- N1a'd'e'I
- N1b
- N1b1
- N1b1a
- N1b1b
- N1b1c
- N1b1d
- N1b2
- N1b1
- N1a'c'd'e'I
- N5
- N1
- N2
- N2a
- WHaplogroup W (mtDNA)-Distribution:Haplogroup W appears in Europe, West and South Asia.It is everywhere found as minority clade, with the highest concentration being in Northern Pakistan...
- N9
- N9a
- N9a1'3
- N9a1
- N9a3
- N9a2'4'5
- N9a2
- N9a2a'b
- N9a2a
- N9a2b
- N9a2c
- N9a2d
- N9a2a'b
- N9a4
- N9a5
- N9a2
- N9a6
- N9a6a
- N9a1'3
- N9b
- N9b1
- N9b1a
- N9b1b
- N9b1c
- N9b1c1
- N9b2
- N9b3
- N9b1
- YHaplogroup Y (mtDNA)In human mitochondrial genetics, Haplogroup Y is a human mitochondrial DNA haplogroup.-Distribution:Haplogroup Y has been found in approximately 66% of Nivkhs and approximately 20% of Ainus. However, this haplogroup also has been found in approximately 2% of Koreans, and in South Siberian and...
- N9a
- N13
- N14
- N21
- N22
- AHaplogroup A (mtDNA)In human mitochondrial genetics, Haplogroup A is a human mitochondrial DNA haplogroup.-Origin:Haplogroup A is believed to have arisen in Asia some 30,000-50,000 years before present...
- O
- O1
- SHaplogroup S (mtDNA)In human genetics, Haplogroup S is a human mitochondrial DNA haplogroup. It is a descendant of macrohaplogroup N.-Tree:This phylogenetic tree of haplogroup S subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial...
- XHaplogroup X (mtDNA)In human mitochondrial genetics, Haplogroup X is a human mitochondrial DNA haplogroup. It has a widespread global distribution but no major regions of distinct localization.-Origin:...
- RHaplogroup R (mtDNA)In human mitochondrial genetics, haplogroup R is a very extended mitochondrial DNA haplogroup and is the most common macro-haplogroup in West Eurasia.Haplogroup R is a descendant of macro-haplogroup N...
- N1'5
See also
- Genealogical DNA testGenealogical DNA testA genealogical DNA test examines the nucleotides at specific locations on a person's DNA for genetic genealogy purposes. The test results are not meant to have any informative medical value and do not determine specific genetic diseases or disorders ; they are intended only to give genealogical...
- Genetic GenealogyGenetic genealogyGenetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level of genetic relationship between individuals.-History:...
- Human mitochondrial geneticsHuman mitochondrial geneticsHuman mitochondrial genetics is the study of the genetics of the DNA contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell....
- Population GeneticsPopulation geneticsPopulation genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
- Human mitochondrial DNA haplogroupsHuman mitochondrial DNA haplogroupsIn human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree...
External links
- Haplogroup N
- Mannis van Oven's - mtDNA subtree N
- Spread of Haplogroup N, from National Geographic
}
-
- Katherine Borges' The Haplogroup N mtDNA Study at Family Tree DNAFamilyTreeDNAFamily Tree DNA is a commercial genetic genealogy company based in Houston, Texas with its partner laboratory, Arizona Research Labs, housed at the University of Arizona. Family Tree DNA offers analysis of autosomal DNA, YDNA, and mtDNA to individuals for genealogical purposes based on DNA samples...
- Katherine Borges' The Haplogroup N mtDNA Study at Family Tree DNA
- General
- Ian Logan's Mitochondrial DNA Site