In 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. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe. The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, the alphabetical ordering does not have any meaning in terms of actual genetic relationships. The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve. The rate at which mitochondrial DNA mutates is known as the mitochondrial molecular clock. It is an area of ongoing research with one study reporting one mutation per 8000 years.

Phylogeny

This phylogenetic tree is based Van Oven (2009). In June 2022, an alternative phylogeny for haplogroup L was suggested

Major mtDNA Haplogroups

Macro-haplogroup L

Macro-haplogroup L is the most basal of human mtDNA haplogroups, from which all other haplogroups descend (specifically, from haplogroup L3). It is found mostly in Africa.

Macro-haplogroup M

Macro-haplogroup M is found mostly in Asia and the Americas. Its descendants are haplogroup M, haplogroup C, haplogroup Z, haplogroup D, haplogroup E, haplogroup G and haplogroup Q.

Macro-haplogroup N

Macro-haplogroup N is found mostly in Australia, the Americas and parts of Asia. Its descendants are haplogroup N, haplogroup O, haplogroup A, haplogroup S, haplogroup I, haplogroup W, haplogroup X and haplogroup Y, as well as macro-haplogroup R.

Macro-haplogroup R

Macro-haplogroup R is found mostly in Europe, Northern Africa, the Pacific and parts of Asia and the Americas. Its descendants are haplogroup R, haplogroup B, haplogroup F, haplogroup H, haplogroup V, haplogroup J, haplogroup T, haplogroup U and haplogroup K

Chronology

Geographical distribution

A 2004 paper suggested that the haplogroups most common in modern West Asian, North African and European populations were: H, J, K, N1, T, U4, U5, V, X and W. African haplogroups: L0, L1, L2, L3, L4, L5, L6, T, U5a Australian haplogroups: M42a, M42c, M14, M15, Q, S, O, N, P. (Refs 1, 2, 3, 4, 5, 6)<!-- M sub groups that are currently identified as specific to Australia are M42a, M42c, M14 and M15. Also Q1, Q1b, Q3a1 in northern Australia (Q is a major sub division of M also found in New Guinea. N sub-groups are S, O (Australia). R (itself derived from N) : P N: S & O. S: Haplogroup S has a wide distribution in Australia and has several major subclades, S1, S1a, S1b, S1b1, S1b2, S1b3, S2, S2a, S2b, S3, S4. The ancient matriline, called S1a has been characterised by complete and partial mt genomes in New South Wales, central, western, south Australia, Northern Territory (Refs)and in Tasmania by partial sequences (ref 8) O haplogroup: O1, O2 identified by complete mt genome have been identified in southern, northern and western Australia. P haplogroup: ** **Widespread** **in** **PNG,** **Timor** **(Ref** **7),** **northern** **and** **eastern** **Australia. The Darling River region of NSW has a distinctive sub-clade called P4b (now called P11), further diversified by into several distinct but culturally connected family lineages (van Holst Pellekaan 2011) and 2013. References: --> Asian haplogroups: F, C, W, M, D, N, K, U, T, A, B, C, Z, U many number variants to each section

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