Haplogroup N1a (mtDNA)
   HOME

TheInfoList



OR:

Haplogroup N1a is a
human mitochondrial DNA Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondr ...
(mtDNA) haplogroup.


Origin

N1a originated in the Near East 12,000 to 32,000 years ago. Specifically, the
Arabian Peninsula The Arabian Peninsula (, , or , , ) or Arabia, is a peninsula in West Asia, situated north-east of Africa on the Arabian plate. At , comparable in size to India, the Arabian Peninsula is the largest peninsula in the world. Geographically, the ...
is postulated as the geographic origin of N1a. This supposition is based on the relatively high frequency and genetic diversity of N1a in modern populations of the peninsula. Exact origins and migration patterns of this haplogroup are still subject of some debate.


Debate on Origin of Neolithic Europeans

Two main competing scenarios exist for the spread of the Neolithic package from the Near East to Europe:
demic diffusion Demic diffusion, as opposed to trans-cultural diffusion, is a demographic term referring to a migratory model, developed by Luigi Luca Cavalli-Sforza, of population diffusion into and across an area that had been previously uninhabited by that g ...
(in which agriculture was brought by farmers) or
cultural diffusion In cultural anthropology and cultural geography, cultural diffusion, as conceptualized by Leo Frobenius in his 1897/98 publication ''Der westafrikanische Kulturkreis'', is the spread of cultural items—such as ideas, styles, religions, technolo ...
(in which agriculture was spread through the passage of ideas). N1a became particularly prominent in this debate when a team led by Wolfgang Haak analyzed skeletons from
Linear Pottery Culture The Linear Pottery culture (LBK) is a major archaeological horizon of the European Neolithic period, flourishing . Derived from the German ''Linearbandkeramik'', it is also known as the Linear Band Ware, Linear Ware, Linear Ceramics or Incis ...
sites. The Linear Pottery Culture is credited with the first farming communities in
Central Europe Central Europe is a geographical region of Europe between Eastern Europe, Eastern, Southern Europe, Southern, Western Europe, Western and Northern Europe, Northern Europe. Central Europe is known for its cultural diversity; however, countries in ...
, marking the beginning of
Neolithic Europe The European Neolithic is the period from the arrival of Neolithic (New Stone Age) technology and the associated population of Early European Farmers in Europe, (the approximate time of the first farming societies in Greece) until –1700 BC (t ...
in the region some 7500 years ago. As of 2010, mitochondrial DNA analysis has been conducted on 42 specimens from five locations. Seven of these ancient individuals were found to belong to haplogroup N1a A separate study analyzed 22 skeletons from European hunter-gatherer sites dated 13400-2300 BC. Most of these fossils carried the mtDNA haplogroup U, which was not found in any of the Linear Pottery Culture sites. Conversely, N1a was not identified in any of the hunter-gatherer fossils, indicating a genetic distinction between
Early European Farmers Early European Farmers (EEF) were a group of the Anatolian Neolithic Farmers (ANF) who brought agriculture to Europe and Northwest Africa. The Anatolian Neolithic Farmers were an ancestral component, first identified in farmers from Anatolia (als ...
and late European hunter-gatherers. Haak's team concludes that "the transition to farming in central Europe was accompanied by a substantial influx of people from outside the region." However, they note that haplogroup frequencies in modern Europeans are substantially different from early farming and late hunter-gatherer populations. This indicates that "the diversity observed today cannot be explained by admixture between hunter-gatherers and early farmers alone" and that "major demographic events continued to take place in Europe after the early Neolithic." Critics of these studies claim that the LBK N1a specimens could have derived from local communities established in Europe before the introduction of farming. Ammerman's team voiced concern due to some of the LBK specimens coming from communities several hundred years after farming was first established in the region; a rebuttal was given. In 2010, researchers led by Palanichamy conducted a genetic and phylogeographic analysis of N1a. Based on the results, they conclude that some of the LBK samples were indigenous to Europe while others may have resulted from 'leapfrog' colonization. Deguilloux's team agreed with Haak's conclusion on a genetic discontinuity between ancient and modern Europeans. However, they consider demic diffusion, cultural diffusion, and long-distance matrimonial exchanges all equally plausible explanations for the current genetic findings.


Ancient DNA

Seven of 42 skeletons from Linear Pottery Culture (Linearbandkeramik) sites were found to be members of the N1a haplogroup (see Neolithic European). N1a was also identified in skeletal remains within a 6200-year-old megalithic long mound near Prissé-la-Charrière, France. A 2500-year-old fossil of a Scytho-Siberian in the
Altai Republic The Altai Republic, also known as the Gorno-Altai Republic, is a republic of Russia located in southern Siberia. The republic borders Kemerovo Oblast to the north, Khakassia to the northeast, Tuva to the east, Altai Krai to the west, as well ...
, easternmost representative of the
Scythians The Scythians ( or ) or Scyths (, but note Scytho- () in composition) and sometimes also referred to as the Pontic Scythians, were an Ancient Iranian peoples, ancient Eastern Iranian languages, Eastern Iranian peoples, Iranian Eurasian noma ...
, was found to be a member of N1a1. A study of a 10th and 11th century Hungarians found that N1a1a1 was present in high-status individuals but absent from commoners. One of thirteen skeletons analyzed from a medieval cemetery dated 1250-1450 AD in
Denmark Denmark is a Nordic countries, Nordic country in Northern Europe. It is the metropole and most populous constituent of the Kingdom of Denmark,, . also known as the Danish Realm, a constitutionally unitary state that includes the Autonomous a ...
was found to be a member of subclade N1a1a. The N1 subclade has also been found in various other fossils that were analysed for ancient DNA, including specimens associated with the
Starčevo Starčevo () is a town located in the Pančevo municipality, in the South Banat District of Serbia. It is situated in the Autonomous Province of Vojvodina. The town has a Serb ethnic majority and its population is 6,661 people ( 2022 census). The ...
(N1a1a1, Alsónyék-Bátaszék, Mérnöki telep, 1/3 or 33%), Linearbandkeramik (N1a1a1a3, Szemely-Hegyes, 1/1 or 100%; N1a1b/N1a1a3/N1a1a1a2/N1a1a1/N1a1a1a, Halberstadt-Sonntagsfeld, 6/22 or ~27%), Alföld Linear Pottery (N1a1a1, Hejőkürt-Lidl, 1/2 or 50%), Transdanubian Late Neolithic (N1a1a1a, Apc-Berekalja, 1/1 or 100%), Protoboleráz (N1a1a1a3, Abony, Turjányos-dűlő, 1/4 or 25%), Iberia Early Neolithic cultures (N1a1a1, Els Trocs, 1/4 or 25%), Rinaldone- Gaudo Eneolithic cultures (N1a1a1a3, Monte San Biagio, 1/1 or 100%).


Distribution

Haplogroup N1a is widely distributed throughout Europe, Northeast Africa, the Near East and Central Asia. It is divided into the European/Central Asian and African/South Asian branches based on specific genetic markers.


Near East

Relatively high frequencies of N1a are found in the modern population of
Saudi Arabia Saudi Arabia, officially the Kingdom of Saudi Arabia (KSA), is a country in West Asia. Located in the centre of the Middle East, it covers the bulk of the Arabian Peninsula and has a land area of about , making it the List of Asian countries ...
. Estimates range from 2.4% to 4%. Regional analysis revealed that the haplogroup was most common in the center of the country.
Haplotype A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent. Many organisms contain genetic material (DNA) which is inherited from two parents. Normally these organisms have their DNA orga ...
diversity is noted for being higher here than elsewhere. Frequencies of N1a in
Yemen Yemen, officially the Republic of Yemen, is a country in West Asia. Located in South Arabia, southern Arabia, it borders Saudi Arabia to Saudi Arabia–Yemen border, the north, Oman to Oman–Yemen border, the northeast, the south-eastern part ...
are relatively high, with estimates varying by study: 3.6%, 5.2%, and 6.9%. Yemen is noted for high haplotype diversity within the population. Elsewhere in the Near East, prevalence of N1a is lower. A 2008 article cited population frequencies of 1.1% in
Qatar Qatar, officially the State of Qatar, is a country in West Asia. It occupies the Geography of Qatar, Qatar Peninsula on the northeastern coast of the Arabian Peninsula in the Middle East; it shares Qatar–Saudi Arabia border, its sole land b ...
, 0.3% in
Iran Iran, officially the Islamic Republic of Iran (IRI) and also known as Persia, is a country in West Asia. It borders Iraq to the west, Turkey, Azerbaijan, and Armenia to the northwest, the Caspian Sea to the north, Turkmenistan to the nort ...
, and 0.2% in
Turkey Turkey, officially the Republic of Türkiye, is a country mainly located in Anatolia in West Asia, with a relatively small part called East Thrace in Southeast Europe. It borders the Black Sea to the north; Georgia (country), Georgia, Armen ...
.


Europe

N1a is a rare haplogroup that currently appears in only 0.2% of European populations. Pockets of higher frequencies exist such as in
Croatia Croatia, officially the Republic of Croatia, is a country in Central Europe, Central and Southeast Europe, on the coast of the Adriatic Sea. It borders Slovenia to the northwest, Hungary to the northeast, Serbia to the east, Bosnia and Herze ...
where 0.7% of mainland Croatians, 9.24% of the population on the island of
Cres Cres is an Adriatic island in Croatia. It is one of the northern islands in the Kvarner Gulf and can be reached via ferry from Rijeka, Krk island or from the Istrian peninsula (line Brestova-Porozina). With an area of , Cres has the same si ...
, and 1.9% of the population on the island of
Brač Brač is a Croatian island in the Adriatic Sea, with an area of , making it the largest island in Dalmatia, and the third largest in the Adriatic. It is separated from the mainland by the Brač Channel, which is wide.Volga-Ural region Idel-Ural (, ), literally Volga-Ural, is a historical region in Eastern Europe, in what is today Russia. The name literally means ''Volga- Urals'' in the Tatar language. The frequently used Russian variant is ''Volgo-Uralye'' (). The term Idel-U ...
of
Russia Russia, or the Russian Federation, is a country spanning Eastern Europe and North Asia. It is the list of countries and dependencies by area, largest country in the world, and extends across Time in Russia, eleven time zones, sharing Borders ...
, N1a is most prominent in the
Komi-Permyaks The Komi ( also ) are a Permian ethnic group who are indigenous to, and primarily inhabit a region around the basins of the Vychegda, Pechora and Kama rivers in northeastern European Russia. They mostly reside in the Komi Republic, Perm Krai, Murm ...
(9.5%) followed by the
Bashkirs The Bashkirs ( , ) or Bashkorts (, ; , ) are a Turkic peoples, Turkic ethnic group indigenous to Russia. They are concentrated in Bashkortostan, a Republics of Russia, republic of the Russian Federation and in the broader historical region of B ...
(3.6%), Chuvash (1.8%), and
Tatars Tatars ( )Tatar
in the Collins English Dictionary
are a group of Turkic peoples across Eas ...
(0.4%). In another study of Volga Tatars, haplogroup N1a was found in 1.6% (2/126) of a sample of Mishar Tatars from Buinsk in western Tatarstan (1/126 N1a1a1a1, 1/126 N1a3a3), but it was not observed in a sample of 71 Kazan Tatars from Aznakayevo in eastern Tatarstan, yielding an overall figure of 1.0% N1a (2/197) among Volga Tatars. Russia as a whole has a frequency of 0.7%. A study of 542 individuals in
Portugal Portugal, officially the Portuguese Republic, is a country on the Iberian Peninsula in Southwestern Europe. Featuring Cabo da Roca, the westernmost point in continental Europe, Portugal borders Spain to its north and east, with which it share ...
found an N1a frequency of 0.37%. Only 0.11% of individuals analyzed in
Scotland Scotland is a Countries of the United Kingdom, country that is part of the United Kingdom. It contains nearly one-third of the United Kingdom's land area, consisting of the northern part of the island of Great Britain and more than 790 adjac ...
were members of the haplogroup.


Asia

Analysis of modern Siberian populations revealed a 1.2% prevalence in
Altaians The Altai people (, ), also the Altaians (, ), are a Turkic peoples, Turkic ethnic group of indigenous peoples of Siberia mainly living in the Altai Republic, Russia. Several thousand of the Altaians also live in Mongolia (Altai Mountains) and C ...
, 0.2% in the
Buryats The Buryats are a Mongolic ethnic group native to southeastern Siberia who speak the Buryat language. They are one of the two largest indigenous groups in Siberia, the other being the Yakuts. The majority of the Buryats today live in their ti ...
, and 0.9% in the
Khanty people The Khanty (), also known in older literature as Ostyaks (), are a Ob-Ugric languages, Ugric Indigenous people, living in Khanty–Mansi Autonomous Okrug, a region historically known as "Yugra" in Russia, together with the Mansi people, Mansi. I ...
. In India, N1a was identified in 4 members of the Havik group, 2 members from
Andhra Pradesh Andhra Pradesh (ISO 15919, ISO: , , AP) is a States and union territories of India, state on the East Coast of India, east coast of southern India. It is the List of states and union territories of India by area, seventh-largest state and th ...
, 2 members from
West Bengal West Bengal (; Bengali language, Bengali: , , abbr. WB) is a States and union territories of India, state in the East India, eastern portion of India. It is situated along the Bay of Bengal, along with a population of over 91 million inhabi ...
and 1 member from
Tamil Nadu Tamil Nadu (; , TN) is the southernmost States and union territories of India, state of India. The List of states and union territories of India by area, tenth largest Indian state by area and the List of states and union territories of Indi ...
. The members of the Havik group belong to the African/South Asian branch while one member from Andhra Pradesh and others from West Bengal and Tamil Nadu belong to the European Branch. Haplogroup N1a1 has been observed in 2.9% (4/138) of a sample of Kyrgyz from
Kizilsu Kyrgyz Autonomous Prefecture Kizilsu Kyrgyz Autonomous Prefecture is an autonomous prefecture in western Xinjiang, China, bordering Kyrgyzstan and Tajikistan. Its Capital (political), capital is Artush. The prefecture is home to 622,222 people () and covers an area of . Mo ...
, Xinjiang, China.Guo, Y.; Xia, Z.; Cui, W.; Chen, C.; Jin, X.; Zhu, B. Joint Genetic Analyses of Mitochondrial and Y-Chromosome Molecular Markers for a Population from Northwest China. ''Genes'' 2020, 11, 564. doi:10.3390/genes11050564


Africa

N1a is concentrated among
Afro-Asiatic The Afroasiatic languages (also known as Afro-Asiatic, Afrasian, Hamito-Semitic, or Semito-Hamitic) are a language family (or "phylum") of about 400 languages spoken predominantly in West Asia, North Africa, the Horn of Africa, and parts of th ...
-speaking populations in
Northeast Africa Northeast Africa, or Northeastern Africa, or Northern East Africa as it was known in the past, encompasses the countries of Africa situated in and around the Red Sea. The region is intermediate between North Africa and East Africa, and encompasses ...
, occurring in
Eritrea Eritrea, officially the State of Eritrea, is a country in the Horn of Africa region of East Africa, with its capital and largest city being Asmara. It is bordered by Ethiopia in the Eritrea–Ethiopia border, south, Sudan in the west, and Dj ...
,
Ethiopia Ethiopia, officially the Federal Democratic Republic of Ethiopia, is a landlocked country located in the Horn of Africa region of East Africa. It shares borders with Eritrea to the north, Djibouti to the northeast, Somalia to the east, Ken ...
,
Kenya Kenya, officially the Republic of Kenya, is a country located in East Africa. With an estimated population of more than 52.4 million as of mid-2024, Kenya is the 27th-most-populous country in the world and the 7th most populous in Africa. ...
,
Tanzania Tanzania, officially the United Republic of Tanzania, is a country in East Africa within the African Great Lakes region. It is bordered by Uganda to the northwest; Kenya to the northeast; the Indian Ocean to the east; Mozambique and Malawi to t ...
,
Somalia Somalia, officially the Federal Republic of Somalia, is the easternmost country in continental Africa. The country is located in the Horn of Africa and is bordered by Ethiopia to the west, Djibouti to the northwest, Kenya to the southwest, th ...
and
Sudan Sudan, officially the Republic of the Sudan, is a country in Northeast Africa. It borders the Central African Republic to the southwest, Chad to the west, Libya to the northwest, Egypt to the north, the Red Sea to the east, Eritrea and Ethiopi ...
. The clade also occurs at very low frequencies among a few neighboring groups due to historical interactions. In Sudan, it is found among the Arakien (5.9%) and
Nubians Nubians () ( Nobiin: ''Nobī,'' ) are a Nilo-Saharan speaking ethnic group indigenous to the region which is now northern Sudan and southern Egypt. They originate from the early inhabitants of the central Nile valley, believed to be one of th ...
(3.4%). In Ethiopia, 2.2% of the population are N1a carriers, with the haplogroup identified amongst Semitic speakers. In Egypt, N1a has been observed in 0.8% of inhabitants. In
Kenya Kenya, officially the Republic of Kenya, is a country located in East Africa. With an estimated population of more than 52.4 million as of mid-2024, Kenya is the 27th-most-populous country in the world and the 7th most populous in Africa. ...
, the haplogroup is carried by around 10% of the
Cushitic The Cushitic languages are a branch of the Afroasiatic language family. They are spoken primarily in the Horn of Africa, with minorities speaking Cushitic languages to the north in Egypt and Sudan, and to the south in Kenya and Tanzania. As of 2 ...
-speaking Rendille, as well as 1% of the
Maasai Maasai may refer to: *Maasai people *Maasai language *Maasai mythology * MAASAI (band) See also * Masai (disambiguation) Masai may refer to: *Masai, Johor, a town in Malaysia * Masai Plateau, a plateau in Kolhapur, Maharashtra, India *Maasai peopl ...
. Some N1a has also been observed in
Tanzania Tanzania, officially the United Republic of Tanzania, is a country in East Africa within the African Great Lakes region. It is bordered by Uganda to the northwest; Kenya to the northeast; the Indian Ocean to the east; Mozambique and Malawi to t ...
. Additionally, haplogroup N1a is found among the
Socotri Soqotri (; ) is a South Semitic languages, South Semitic language spoken by the Soqotri people on the island of Socotra and the two nearby islands of Abd al Kuri and Samhah, in the Socotra archipelago, in the Guardafui Channel. Soqotri is one of s ...
(6.2%).


Subclades


Tree

This phylogenetic tree of haplogroup N1a 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 *******N1a ********N1a1 *********N1a1a **********N1a1a1 ***********N1a1a1a **********N1a1a2 **********N1a1a3 *********N1a1b The tree of N1a has two distinct branches: Africa/South Asia and Europe with a Central Asian subcluster. However, the African branch has members in southern Europe, and the European branch has members in Egypt and the Near East. The Africa/South Asia branch is characterized by the 16147G mutation, whereas the European branch is characterized by 16147A, 3336 and 16320. The Central Asian subcluster is an offshoot of the European branch that is characterized by marker 16189. Subclade N1a1 is associated with mutation 16147A. Palanichamy calculates N1a1 to have emerged between 8900 and 22400 YBP (Years
Before Present Before Present (BP) or "years before present (YBP)" is a time scale used mainly in archaeology, geology, and other scientific disciplines to specify when events occurred relative to the origin of practical radiocarbon dating in the 1950s. Because ...
). Subclade N1a1a is denoted by marker 16320, and is therefore associated with the European N1a branch. Petraglia estimates that N1a1a arose between 11000 and 25000 YBP.


See also

*
Genealogical DNA test A genealogical DNA test is a DNA-based Genetic testing, genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or (with lower reliability) to ...
*
Genetic Genealogy Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be use ...
*
Human mitochondrial genetics Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA (the DNA contained in human mitochondria). The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria ...
*
Population Genetics Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...
*
Human mitochondrial DNA haplogroups In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in Human mitochondrial genetics, human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic ...


References


External links

*Mannis van Oven'
PhyloTreemitosearch
{{Webarchive, url=https://web.archive.org/web/20110225132657/http://www.mitosearch.org/ , date=2011-02-25 *Ian Logan'

*Ian Logan'

*Ian Logan'

*mitoLEAF'

* FamilyTreeDNA'
Mitotree: Haplogroup N1a
N1a