In human genetics

Human genetics

Human genetics describes 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 genetics, developmental genetics, clinical genetics,...

, a human mitochondrial DNA haplogroup is a haplogroup

Haplogroup

In the study of molecular evolution, a haplogroup is a group of similar haplotypes that share a common ancestor having the same single nucleotide polymorphism mutation in both haplotypes. Because a haplogroup consists of similar haplotypes, this is what makes it possible to predict a haplogroup...

 defined by differences in human mitochondrial DNA

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....

. 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

Africa

Africa is the world's second largest and second most populous continent, after Asia. At about 30.2 million km² including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area...

 and the subsequent spread across the globe.

The letter names of the haplogroups run from A to Z. As haplogroups were named in the order of their discovery, they do not reflect the actual genetic relationships.

The woman at the root of all these groups is the matrilineal most recent common ancestor (MRCA)

Most recent common ancestor

In genetics, the most recent common ancestor of any set of organisms is the most recent individual from which all organisms in the group are directly descended...

 for all currently living

World population

The world population is the total number of living humans on the planet Earth. As of today, it is estimated to be  billion by the United States Census Bureau...

 humans. She is commonly called Mitochondrial Eve

Mitochondrial Eve

In the field of human genetics, Mitochondrial Eve refers to the matrilineal "MRCA" . In other words, she was the woman from whom all living humans today descend, on their mother's side, and through the mothers of those mothers and so on, back until all lines converge on one person...

.

Lineage Perspective

This phylogenetic tree is based on the Van Oven 2009 tree and subsequent published research.

• L
  Macro-haplogroup L (mtDNA)
  In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans....
  
  (Mitochondrial Eve
  Mitochondrial Eve
  In the field of human genetics, Mitochondrial Eve refers to the matrilineal "MRCA" . In other words, she was the woman from whom all living humans today descend, on their mother's side, and through the mothers of those mothers and so on, back until all lines converge on one person...
  
  )
  • L0
    Haplogroup L0 (mtDNA)
    -Distribution:It is found most commonly in the Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73%. Some of the higher frequencies are: Namibia 79%, South Africa 83% and Botswana 100%....
    
    
  • L1-6
    • L1
      Haplogroup L1 (mtDNA)
      In human mitochondrial genetics, Haplogroup L1 is a human mitochondrial DNA haplogroup common in Central and West Africa.-Origin:Haplogroup L1 is believed to have appeared approximately 110,000 to 170,000 years ago...
      
      
    • L2-6
      • L5
        Haplogroup L5 (mtDNA)
        In human mitochondrial genetics, Haplogroup L5 is a human mitochondrial DNA haplogroup. It was previously known as L1e.-Distribution:It is a small African haplogroup from East Africa. The highest frequency is in Mbuti Pygmies at 15%...
        
        
      • L2'3'4'6
        • L2
          Haplogroup L2 (mtDNA)
          In human mitochondrial genetics, Haplogroup L2 is a human mitochondrial DNA haplogroup typical of Africa. Its subclade L2a is a somewhat frequent and widespread mtDNA cluster in Africa, as well as in the African diaspora Americans . et al.-Origin:L2 is a common African lineage. It is believed to...
          
          
        • L3'4'6
          • L6
            Haplogroup L6 (mtDNA)
            In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA haplogroup. It is a small African haplogroup.-Tree:This phylogenetic tree of haplogroup M subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human...
            
            
          • L3'4
            • L4
              Haplogroup L4 (mtDNA)
              In human mitochondrial genetics, Haplogroup L4 is a human mitochondrial DNA haplogroup.It is a small African haplogroup.-Distribution:L4 is important in East Africa and Horn of Africa...
              
              
            • 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...
              
              
              • 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....
                
                
                • M8: CZ
                  Haplogroup CZ (mtDNA)
                  In human mitochondrial genetics, Haplogroup CZ is a human mitochondrial DNA haplogroup.-Origin:Haplogroup CZ is a descendant of haplogroup M and is a parent to haplogroups C and Z. Haplogroup CZ is divided into subclades C and Z.-Distribution:...
                  
                  (C
                  Haplogroup C (mtDNA)
                  In human mitochondrial genetics, Haplogroup C is a human mitochondrial DNA haplogroup.-Origin:Haplogroup C is believed to have arisen somewhere between the Caspian Sea and Lake Baikal some 60,000 years before present. It is a descendant of the haplogroup M.-Distribution:Haplogroup C is found in...
                  
                  , Z
                  Haplogroup Z (mtDNA)
                  In human mitochondrial genetics, Haplogroup Z is a human mitochondrial DNA haplogroup.-Origin:Haplogroup Z is believed to have arisen in Central Asia, and is a descendant of haplogroup CZ.-Distribution:...
                  
                  )
                • M9: E
                  Haplogroup E (mtDNA)
                  In human mitochondrial genetics, haplogroup E is a human mitochondrial DNA haplogroup typical for the Malay Archipelago. It is a subgroup of haplogroup M9.-Origin:...
                  
                  
                • M12'G: G
                  Haplogroup G (mtDNA)
                  In human mitochondrial genetics, Haplogroup G is a human mitochondrial DNA haplogroup.-Origin:Haplogroup G is a descendant of haplogroup M. Haplogroup G is divided into subclades G1 and G2a, which represent the Koryaks and Itelmen.-Distribution:...
                  
                  
                • M29'Q: Q
                  Haplogroup Q (mtDNA)
                  In human mitochondrial genetics, haplogroup Q is a human mitochondrial DNA haplogroup typical for Oceania. It is a subgroup of haplogroup M29'Q.-Distribution:...
                  
                  
                • D
                  Haplogroup D (mtDNA)
                  In human mitochondrial genetics, Haplogroup D is a human mitochondrial DNA haplogroup.-Origin:Haplogroup D is believed to have arisen in Asia some 48,000 years before present. It is a descendant haplogroup of haplogroup M.-Distribution:...
                  
                  
              • N
                Haplogroup N (mtDNA)
                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....
                
                
                • N1: 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:...
                  
                  
                • N2: 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...
                  
                  
                • N9: 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...
                  
                  
                • 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...
                  
                  
                • 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...
                  
                  
                • 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:...
                  
                  
                • R
                  Haplogroup 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...
                  
                  
                  • R0
                    Haplogroup R0 (mtDNA)
                    In human mitochondrial genetics, Haplogroup R0 is a mitochondrial DNA haplogroup.-Origin:Haplogroup R0 derives from the macro-haplogroup R...
                    
                     (FMKA pre-HV)
                    • HV
                      Haplogroup HV (mtDNA)
                      In human mitochondrial genetics, Haplogroup HV is a human mitochondrial DNA haplogroup.-Origin:Haplogroup HV derives from the Haplogroup R0...
                      
                      : (H
                      Haplogroup H (mtDNA)
                      In human mitochondrial genetics, Haplogroup H is a human mitochondrial DNA haplogroup that likely originated in Southwest Asia 25,000-30,000 YBP.-Origin:...
                      
                      , V
                      Haplogroup V (mtDNA)
                      In human mitochondrial genetics, Haplogroup V is a human mitochondrial DNA haplogroup.-Origin:Haplogroup V is believed to have originated around the Western Mediterranean region, approximately 13,600 years before present- possibly on Iberia...
                      
                      )
                  • pre-JT
                    Haplogroup pre-JT (mtDNA)
                    In human genetics, Haplogroup pre-JT is a human mitochondrial DNA haplogroup.-Origin:It is a descendant of Haplgroup R. It is characterised by genetic marker at 4216. It also called R2'JT. Pre-JT has two direct descendents; Haplogroup JT and Haplogroup R2.- See also :*Genealogical DNA test*Genetic...
                    
                     or R2'JT
                    • JT
                      Haplogroup JT (mtDNA)
                      In human mitochondrial genetics, Haplogroup JT is a human mitochondrial DNA haplogroup.-Origin:A descendant of the macro-haplogroup R, Haplogroup JT is the ancestral haplogroup to mitochondrial haplogroups J and T.-Tree:...
                      
                      : (J
                      Haplogroup J (mtDNA)
                      In human mitochondrial genetics, Haplogroup J is a human mitochondrial DNA haplogroup.Haplogroup J derives from the haplogroup JT, which also gave rise to Haplogroup T. In his popular book The Seven Daughters of Eve, Bryan Sykes named the originator of this mtDNA haplogroup Jasmine...
                      
                      , T
                      Haplogroup T (mtDNA)
                      In human mitochondrial genetics, Haplogroup T is a human mitochondrial DNA haplogroup.-Known Origins:Mitochondrial Haplogroup T derives from the haplogroup JT, which also gave rise to haplogroup J...
                      
                      )
                  • R9: F
                    Haplogroup F (mtDNA)
                    In human mitochondrial genetics, Haplogroup F is a human mitochondrial DNA haplogroup typical for the Far East.Haplogroup F is centered in Asia and appears in eastern China and Japan. It is not found in the Americas...
                    
                    
                  • R11'B: B
                    Haplogroup B (mtDNA)
                    In human mitochondrial genetics, Haplogroup B is a human mitochondrial DNA haplogroup.-Origin:Haplogroup B is believed to have arisen in Asia some 50,000 years before present. Its ancestral haplogroup was Haplogroup R....
                    
                    
                  • P
                    Haplogroup P (mtDNA)
                    In human mitochondrial genetics, Haplogroup P is a human mitochondrial DNA haplogroup.-Distribution:Today, P is found in the Australian continent, especially in Papuan, Melanesian and Australian Aborigines.-Tree:...
                    
                    
                  • U
                    Haplogroup U (mtDNA)
                    In human mitochondrial genetics, Haplogroup U is a human mitochondrial DNA haplogroup.-Origins:Haplogroup U descends from a woman in the Haplogroup R branch of the phylogenetic tree, who lived around 55,000 years ago...
                    
                    (formerly UK
                    Haplogroup UK (mtDNA)
                    In human genetics, Haplogroup UK was a human mitochondrial DNA haplogroup. It is now known that K is a subclade of U8.-See also:*Genealogical DNA test*Genetic Genealogy*Human mitochondrial genetics*Population Genetics-External links:...
                    
                    )
                    • U8: K
                      Haplogroup K (mtDNA)
                      In human mitochondrial genetics, Haplogroup K is a human mitochondrial DNA haplogroup, defined by HVR1 mutations 16224C and 16311C.-Origin:It is the most common subclade of haplogroup U8, and it has an estimated age of c. 12,000 years BP....
                      
                      

European haplogroups

Bryan Sykes

Bryan Sykes

Bryan Sykes is a former Professor of Human Genetics at the University of Oxford and a current Fellow of Wolfson College.Sykes published the first report on retrieving DNA from ancient bone...

 had claimed there were seven major mitochondrial lineages for modern Europeans but others now put the number at 10-12. These additional "daughters" generally include haplogroups I, M and W. A recent paper re-mapped European haplogroups as H, J, K, N1, T, U4, U5, V, X and W.

Haplogroup	Possible time of origin	Possible place of origin	Highest frequencies
N	75,000 years ago	India or South Asia
R	70,000 years ago	India or South Asia
U	60,000 years ago	North-East Africa or South-West Asia
pre-JT	55,000 years ago	Middle East
JT	50,000 years ago	Middle East
U5	50,000 years ago	Western Asia
U6	50,000 years ago	North Africa
U8	50,000 years ago	Western Asia
pre-HV	50,000 years ago	Near East
J	45,000 years ago	Near East or Caucasus
HV	40,000 years ago	Near East
H	over 35,000 years ago	Western Asia
X	over 30,000 years ago	north-east Europe
U5a1	30,000 years ago	Europe
I	30,000 years ago	Caucasus or north-east Europe
J1a	27,000 years ago	Near East
W	25,000 years ago	north-east Europe or north-west Asia
U4	25,000 years ago	Central Asia
J1b	23,000 years ago	Near East
T	17,000 years ago	Mesopotamia
K	16,000 years ago	Near East
V	15,000 years ago	Iberia and moved to Scandavia
H1b	13,000 years ago	Europe
K1	12,000 years ago	Near East
H3	10,000 years ago	Western Europe

See also

• Genealogy
  • 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...
    
    
  • Genealogical DNA test
    Genealogical DNA test
    A 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 Genealogy
    Genetic genealogy
    Genetic 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:...
    
    
  • MtDna haplogroups by populations
    MtDna haplogroups by populations
    Listed below are Human mitochondrial DNA haplogroups found in populations and various ethnic groups by regions or continents around the world based on relevant studies....
    
    
  • Human Y-chromosome DNA haplogroups
    Human Y-chromosome DNA haplogroups
    In human genetics, a Human Y-chromosome DNA haplogroup is a haplogroup defined by differences in the non-recombining portions of DNA from the Y chromosome ....
    
    
• Genetics
  • Human mitochondrial molecular clock
    Human mitochondrial molecular clock
    The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course of human evolution. The archeological record of human activity from early periods in human prehistory is relatively limited and its interpretation...
    
    
  • Cambridge Reference Sequence
    Cambridge Reference Sequence
    The Cambridge Reference Sequence for human mitochondrial DNA was first published in 1981 leading to the initiation of the human genome project.A group under Dr...
    
    
  • * (haplogroup)
    * (haplogroup)
    Paragroup is a term used in population genetics to describe lineages within a haplogroup that are not defined by any additional unique markers. In human Y-chromosome DNA haplogroups, paragroups are typically represented by an asterisk placed after the main haplogroup...
    
    
  • Human mitochondrial genetics
    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....
    
    
  • Hypervariable region
    Hypervariable region
    A hypervariable region is a location within nuclear DNA or the D-loop of mitochondrial DNA in which base pairs of nucleotides repeat or have substitutions...
    
    
  • Molecular phylogeny
    Molecular phylogeny
    Molecular phylogenetics is the analysis of hereditary molecular differences, mainly in DNA sequences, to gain information on an organism's evolutionary relationships. The result of a molecular phylogenetic analysis is expressed in a phylogenetic tree...
    
    
  • Population Genetics
    Population genetics
    Population 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...
    
    
• Bio-Informatics

External links

• Mitochondrial Phylogenetic Trees
  • Ian Logan's Mitochondrial DNA Site
  • Mannis van Oven's PhyloTree.org
• Mitochondrial haplogroup skeleton
  • Vincent Macaulay's Mitochondrial haplogroup motifs
  • Cambridge DNA's An mtDNA view of the peopling of the world by Homo sapiens
  • John S. Walden's Map of macro-haplogroup N
  • List of mtDNA haplogroup projects
• mtDNA haplogroup determination
• Journal Articles

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