human genetics Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population gene ...

, a human mitochondrial DNA haplogroup is a

haplogroup A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup (haploid from the el, ἁπλοῦς, ''haploûs'', "onefold, simple" and en, group) is a group of similar haplotypes that share ...

defined by differences in

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. Mitochondri ...

. 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 Matrilineality is the tracing of kinship through the female line. It may also correlate with a social system in which each person is identified with their matriline – their mother's Lineage (anthropology), lineage – and which can in ...

inheritance of modern humans back to human origins in

Africa Africa is the world's second-largest and second-most populous continent, after Asia in both cases. At about 30.3 million km2 (11.7 million square miles) including adjacent islands, it covers 6% of Earth's total surface area ...

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

most recent common ancestor (MRCA) for all currently living

humans Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...

. She is commonly called

Mitochondrial Eve In human genetics, the Mitochondrial Eve (also ''mt-Eve, mt-MRCA'') is the matrilineal most recent common ancestor (MRCA) of all living humans. In other words, she is defined as the most recent woman from whom all living humans descend in an un ...

. 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

MtDNA haplogroup tree and distribution map

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

) ** L0 ** L1-6 *** L1 *** L2-6 **** L5 **** L2'3'4'6 ***** L2 ***** L3'4'6 ****** L6 ****** L3'4 ******* L4 ******* L3 ******** N ********* N1: I ********* N2: W ********* N9: Y ********* A ********* S ********* X ********* R ********** R0 (FMKA pre-HV) *********** HV: ( H, V) ********** pre-JT or R2'JT *********** JT: ( J, T) ********** R9: F ********** R11'B: B ********** P ********** U (formerly UK) *********** U8: K ********* O ******** M ********* M9: E ********* M12'G: G ********* M29'Q: Q ********* D ********* M8: CZ ( C, Z)

Major mtDNA Haplogroups

Human migrations and mitochondrial 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. * Haplogroup L0 * L1-7 ** Haplogroup L1 ** L2-7 *** L3'4'6 **** Haplogroup L2 **** L346 ***** L34 ******

Haplogroup L3 Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. The clade has played a pivotal role in the early dispersal of anatomically modern humans. It is strongly associated with the out-of-Africa migration of modern humans of about 70– ...

****** Haplogroup L4 ***** Haplogroup L6 *** L5'7 **** Haplogroup L5 **** Haplogroup L7

Macro-haplogroup M

Macro-haplogroup M is found mostly in Asia and the Americas. Its descendants are haplogroup M, haplogroup C,

haplogroup Z In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA (mtDNA) haplogroup. Origin Haplogroup Z is believed to have arisen in Central Asia, and is a descendant of haplogroup CZ. Distribution The greatest clade diversity of ha ...

, 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 R may refer to: * Haplogroup R (mtDNA), a human mitochondrial DNA (mtDNA) haplogroup * Haplogroup R (Y-DNA) Haplogroup R, or R-M207, is a Y-chromosome DNA haplogroup. It is both numerous and widespread amongst modern populations. S ...

, haplogroup B, haplogroup F, haplogroup H, haplogroup V, haplogroup J, haplogroup T,

haplogroup U Haplogroup U is a human mitochondrial DNA haplogroup (mtDNA). The clade arose from haplogroup R, likely during the early Upper Paleolithic. Its various subclades (labelled U1–U9, diverging over the course of the Upper Paleolithic) are found ...

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) Brian Sykes' book

The Seven Daughters of Eve ''The Seven Daughters of Eve'' is a 2001 semi-fictional book by Bryan Sykes that presents the science of human origin in Africa and their dispersion to a general audience. Sykes explains the principles of genetics and human evolution, the parti ...

listed the seven haplogroups found as Europe as: H, J, K, T, U and X. Asian haplogroups: F, C, W, M, D, N, K, U, T, A, B, C, Z, U many number variants to each section

References

External links

* Mitochondrial phylogenetic trees ** Mannis van Oven'
PhyloTree.org
*
PhyloD3 – D3.js-based phylogenetic tree based on PhyloTree

Mitochondrial haplogroup skeleton
** Vincent Macaulay'

*
List of mtDNA haplogroup projects

MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations

HaploGrep: mtDNA haplogroup determination based on PhyloTree.org

HaploFind – fast automatic haplogroup assignment pipeline for human mitochondrial DNA
{{DEFAULTSORT:Human Mitochondrial Dna Haplogroup * Genetics-related lists