Human Y-chromosome DNA haplogroups

Human Y chromosome DNA (Y-DNA) haplogroups are named from A to T, and are further subdivided using numbers and lower case letters. Y chromosome haplogroup designations are established by the Y Chromosome Consortium.^[5]

Y-chromosomal Adam is the name given by researchers to the male who is the most recent common patrilineal (male-lineage) ancestor of all living humans.

Major Y-chromosome haplogroups, and their geographical regions of occurrence (prior to the recent European colonization), include:

Human mitochondrial DNA haplogroups

Human migrations and mitochondrial haplogroups

Human mtDNA haplogroups are lettered: A, B, C, CZ, D, E, F, G, H, HV, I, J, pre-JT, JT, K, L0, L1, L2, L3, L4, L5, L6, M, N, P, Q, R, R0, S, T, U, V, W, X, Y, and Z. The most up-to-date version of the mtDNA tree is maintained by Mannis van Oven on the PhyloTree website.^[9]

Mitochondrial Eve is the name given by researchers to the woman who is the most recent common matrilineal (female-lineage) ancestor of all living humans.

Defining populations

Map of human haplotype migration, according to mitochondrial DNA, with key (coloured) indicating periods in numbered thousands of years before the present.

Haplogroups can be used to define genetic populations and are often geographically oriented. For example, the following are common divisions for mtDNA haplogroups:

• African: L0, L1, L2, L3, L4, L5, L6
• West Eurasian: H, T, U, V, X, K, I, J, W (all listed West Eurasian haplogroups are derived from macro-haplogroup N)^[10]
• East Eurasian: A, B, C, D, E, F, G, Y, Z (note: C, D, E, G, and Z belong to macro-haplogroup M)
• Native American: A, B, C, D, X
• Australo-Melanesian: P, Q, S

The mitochondrial haplogroups are divided into three main groups, which are designated by the sequential letters L, M, N. Humanity first split within the L group between L0 and L1-6. L1-6 gave rise to other L groups, one of which, L3, split into the M and N group.

The M group comprises the first wave of human migration which is thought to have evolved outside of Africa, following an eastward route along southern coastal areas. Descendant lineages of haplogroup M are now found throughout Asia, the Americas, and Melanesia, as well as in parts of the Horn of Africa and North Africa; almost none have been found in Europe. The N haplogroup may represent another macrolineage that evolved outside of Africa, heading northward instead of eastward. Shortly after the migration, the large R group split off from the N.

Haplogroup R consists of two subgroups defined on the basis of their geographical distributions, one found in southeastern Asia and Oceania and the other containing almost all of the modern European populations. Haplogroup N(xR), i.e. mtDNA that belongs to the N group but not to its R subgroup, is typical of Australian aboriginal populations, while also being present at low frequencies among many populations of Eurasia and the Americas.

The L type consists of nearly all Africans.

The M type consists of:

M1 – Ethiopian, Somali and Indian populations. Likely due to much gene flow between the Horn of Africa and the Arabian Peninsula (Saudi Arabia, Yemen, Oman), separated only by a narrow strait between the Red Sea and the Gulf of Aden.

CZ – Many Siberians; branch C – Some Amerindian; branch Z – Many Saami, some Korean, some North Chinese, some Central Asian populations.

D – Some Amerindians, many Siberians and northern East Asians

E – Malay, Borneo, Philippines, Taiwanese aborigines, Papua New Guinea

G – Many Northeast Siberians, northern East Asians, and Central Asians

Q – Melanesian, Polynesian, New Guinean populations

The N type consists of:

A – Found in many Amerindians and some East Asians and Siberians

I – 10% frequency in Northern, Eastern Europe

S – Some Indigenous Australian (First Nations People of Australia)

W – Some Eastern Europeans, South Asians, and southern East Asians

X – Some Amerindians, Southern Siberians, Southwest Asians, and Southern Europeans

Y – Most Nivkhs and people of Nias; many Ainus, Tungusic people, and Austronesians; also found with low frequency in some other populations of Siberia, East Asia, and Central Asia

R – Large group found within the N type. Populations contained therein can be divided geographically into West Eurasia and East Eurasia. Almost all European populations and a large number of Middle-Eastern population today are contained within this branch. A smaller percentage is contained in other N type groups (See above). Below are subclades of R:

B – Some Chinese, Tibetans, Mongolians, Central Asians, Koreans, Amerindians, South Siberians, Japanese, Austronesians

F – Mainly found in southeastern Asia, especially Vietnam; 8.3% in Hvar Island in Croatia.^[11]

R0 – Found in Arabia and among Ethiopians and Somalis; branch HV (branch H; branch V) – Europe, Western Asia, North Africa;

Pre-JT – Arose in the Levant (modern Lebanon area), found in 25% frequency in Bedouin populations; branch JT (branch J; branch T) – North, Eastern Europe, Indus, Mediterranean

U – High frequency in West Eurasia, Indian sub-continent, and Algeria, found from India to the Mediterranean and to the rest of Europe; U5 in particular shows high frequency in Scandinavia and Baltic countries with the highest frequency in the Sami people.

Y-chromosome

According to SNPS haplogroups which are the age of the first extinction event tend to be around 45–50 kya. Haplogroups of the second extinction event seemed to diverge 32–35 kya according to Mal'ta. The ground zero extinction event appears to be Toba during which haplogroup CDEF* appeared to diverge into C, DE and F. C and F have almost nothing in common while D and E have plenty in common. Extinction event #1 according to current estimates occurred after Toba, although older ancient DNA could push the ground zero extinction event to long before Toba, and push the first extinction event here back to Toba. Haplogroups with extinction event notes by them have a dubious origin and this is because extinction events lead to severe bottlenecks, so all notes by these groups are just guesses. Note that the SNP counting of ancient DNA can be highly variable meaning that even though all these groups diverged around the same time no one knows when.^[13][14]

mtDNA

General

• The Genographic Project

all DNA haplogroups

Y-Chromosome

• World Haplogroups Maps (PDF)

Y chromosome DNA haplogroups

• Y Chromosome Consortium
• ISOGG Y-DNA Haplogroup Tree
• PhyloTree's Y-tree A minimal reference phylogeny for the human Y-chromosome
• Haplogroup Predictor
• The Y Chromosome Consortium (2002), A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups, Genome Research, Vol. 12(2), 339–48, February 2002. (Detailed hierarchical chart has conversions from previous naming schemes)
• Semino et al. (2000), The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans, Science, Vol 290 (paper which introduced the "Eu" haplogroups).
• Y-DNA Ethnographic and Genographic Atlas and Open-Source Data Compilation

Mitochondrial DNA haplogroups

• PhyloTree – The phylogenetic tree of global human mitochondrial DNA variation^[1]
• PhyloD3 – D3.js-based phylogenetic tree based on PhyloTree
• MitoTool – a web server for the analysis and retrieval of human mitochondrial DNA sequence variations
• HaploGrep – automatic classification of mitochondrial DNA haplogroups based on PhyloTree Archived 2016-06-12 at the Wayback Machine
• HaploFind – fast automatic haplogroup assignment pipeline for human mitochondrial DNA Archived 2016-06-11 at the Wayback Machine
• graphical mtDNA haplogroup skeleton
• The Making of the African mtDNA Landscape
• Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?

Software

• Y-DNA Haplogroup Browser