Haplogroup J (mtDNA)

Haplogroup J
Possible time of origin 45,000 years before present
Possible place of origin Caucasus, Eurasia
Ancestor JT
Descendants J1, J2
Defining mutations 295 489 10398 12612 13708 16069[1]

Haplogroup J is a human mitochondrial DNA (mtDNA) haplogroup. The clade 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. Within the field of medical genetics, certain polymorphisms specific to haplogroup J have been associated with Leber's hereditary optic neuropathy.[2]

Origin

Around 45,000 years before present, a mutation took place in the DNA of a woman who lived in the Near East or Caucasus. Further mutations occurred in the J line, which can be identified as J1a1 (27,000 yrs ago), J2a (19,000 yrs ago), J2b2 (16,000 years ago), J2b3 (5,800 yrs ago), etc. Haplogroup J (along with ‘T’) MtDNA J & T colonised Europe from the Near East in the late Paleolithic and Mesolithic.

Coalescence time estimates for the subclades of mitochondrial haplogroup J
Subclade European coalescence time[2] Near East coalescence time[2]
J1a1 27,300 years (± 8,000 years) 17,700 years (± 2,500 years)
J1a2 7,700 years (± 3,500 years) —
J1b 5,000 years (± 2,200 years) 23,300 years (± 4,300 years)
J2a 19,200 years(± 6,900 years) —
J2b1 — 15,000 years (± 5000 years)
J2b2 161,600* years (± 8,100 years) 16,000 years (± 5,700 years)
J2b3 5,800 years (± 2,900 years) —

*Typographical error from original source material as per time table describing the spread of populations given in the same study.

However, any statements concerning the geographic origin of this or any other haplogroup are highly speculative and considered by most population geneticists to be 'story telling' and outside the domain of science . Furthermore, inferring close associations between a haplogroup and a specific archaeological culture can be equally problematic.

Distribution

Projected spatial frequency distribution for haplogroup J.

Basal haplogroup J* is found among the Socotri (9.2%).[3]

Haplogroup J occurs in approximately 12% of native European populations.[4][5]

The average frequency of haplogroup J as a whole is today highest in the Near East (12%), followed by Europe (11%), the Caucasus (8%) and Northeast Africa (6%). Of the two main sub-groups, J1 takes up four-fifths of the total and is spread widely on the continent while J2 is more localised around the Mediterranean, Greece, Italy/Sardinia and Spain.

There is also limited evidence that the subclade J1 has long been present in Central Asia. For instance, perhaps the highest incidence of haplogroup J is the 19% of Polish Roma, who belong to J1 (although this has also been ascribed to a "founder effect" of some kind).[6] In Pakistan, where West Eurasian lineages occur at frequencies of up to 50% in some ethno-linguistic groups, the incidence of J1 averages around 5%, while J2 is very rare. However, J2 is found amongst 9% of the Kalash minority of north-west Pakistan.[7]

In the Arabian peninsula, mtDNA haplogroup J is found among Saudis (10.5%-18.8% J1b) and Yemenis (0%-20% J1b). The J1b subclade also occurs in the Near East among Iraqis (7.1%) and Palestinians (4%).[8]

In Africa, haplogroup J is concentrated in the northeast. It is found among Algerians (3.23%-14.52%),[9] as well as Copts (10.3% J1a; 10.3% J2),[10] Sudanese Fulani (10.7% J1b),[10] Meseria (6.7% J1b),[10] Arakien (5.9% J1b),[10] Egyptians (5.9%),[11] Mozabite Berbers (3.53%),[9] Sudanese Hausa (2.9% J1b),[10] Zenata Berbers (2.74%),[9] Beja (2.1% J1b),[10] and Reguibate Sahrawi (0.93%).[9]

Within Europe, >2% frequency distribution of mtDNA J is as follows:[12]

Subclades

Schematic tree of mtDNA haplogroup J. Ages (in ka) indicated are maximum likelihood estimates obtained for the whole-mtDNA genome.

Tree

This phylogenetic tree of haplogroup J subclades is based on the paper by Mannis van Oven and Manfred Kayser Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation[1] and subsequent published research.

Genetic traits

It has been theorized that the uncoupling of oxidative phosphorylation related to SNPs which define mt-haplogroup J consequently produces higher body heat in the phenotype of mtDNA J individuals. This has been linked to selective pressure for the presence of the haplogroup in northern Europe, particularly Norway.[13] Individuals from haplogroups Uk, J1c and J2 were found to be more susceptible to Leber's hereditary optic neuropathy because they have reduced oxidative phosphorylation capacity, which results in part from lower mtDNA levels.[14] J mtDNA has also been associated with HIV infected individuals displaying accelerated progression to AIDS and death.[15] The T150C mutation, which is exclusive to but not definitive of, the J2 subclade of Haplogroup J may be part of a likely nuclearly controlled general machinery regarding the remodeling & replication of mtDNA. Controlling a remodeling which could accelerate mtDNA replication thus compensating for oxidative damage in mtDNA as well as functional deterioration occurring with old age related to it.[16] Haplogroup J was found to be a protective factor against ischemic cardiomyopathy.[17] It was also found that Haplogroup J was a protective factor among osteoarthritis patients from Spain[18] but not from UK,[19] and this was hypothesized to be due to a different genetic composition (polymorphisms) of the Haplogroup J in both populations. A study involving patients of European and West Asian origin or descent showed that individuals classified as haplogroup J or K demonstrated a significant decrease in risk of Parkinson's disease versus individuals carrying the most common haplogroup, H.[20]

Popular culture

See also

Phylogenetic tree of human mitochondrial DNA (mtDNA) haplogroups

  Mitochondrial Eve (L)    
L0 L1–6
L1 L2 L3   L4 L5 L6
  M   N  
CZ D E G Q   O A S   R   I W X Y
C Z B F R0   pre-JT P  U
HV JT K
H V J T

References

  1. 1 2 van Oven, Mannis; Manfred Kayser (13 Oct 2008). "Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation". Human Mutation. 30 (2): E386–94. doi:10.1002/humu.20921. PMID 18853457.
  2. 1 2 3 4 5 6 Piia Serk, Human Mitochondrial DNA Haplogroup J in Europe and Near East, Thesis, Tartu 2004
  3. ↑ Černý, Viktor; et al. (2009). "Out of Arabia—the settlement of island Soqotra as revealed by mitochondrial and Y chromosome genetic diversity" (PDF). American journal of Physical Anthropology. 138 (4): 439–447. Retrieved 13 June 2016.
  4. ↑ Bryan Sykes (2001). The Seven Daughters of Eve. London; New York: Bantam Press. ISBN 0393020185.
  5. ↑ "Maternal Ancestry". Oxford Ancestors. Retrieved 7 February 2013.
  6. ↑ B.A. Malyarchuk, T. Grzybowski, M.V. Derenko, J. Czarny, and D. Miścicka-Śliwka, Mitochondrial DNA diversity in the Polish Roma, Annals of Human Genetics, vol. 70 (2006), pp. 195-206.
  7. ↑ Lluís Quintana-Murci, Raphaëlle Chaix, R. Spencer Wells, Doron M. Behar, Hamid Sayar, Rosaria Scozzari, Chiara Rengo, Nadia Al-Zahery, Ornella Semino, A. Silvana Santachiara-Benerecetti, Alfredo Coppa, Qasim Ayub, Aisha Mohyuddin, Chris Tyler-Smith, S. Qasim Mehdi, Antonio Torroni, and Ken McElreavey, Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor, American Journal of Human Genetics, vol. 74 (2004), pp. 827–845.
  8. ↑ Non, Amy. "ANALYSES OF GENETIC DATA WITHIN AN INTERDISCIPLINARY FRAMEWORK TO INVESTIGATE RECENT HUMAN EVOLUTIONARY HISTORY AND COMPLEX DISEASE" (PDF). University of Florida. Retrieved 22 April 2016.
  9. 1 2 3 4 Asmahan Bekada; Lara R. Arauna; Tahria Deba; Francesc Calafell; Soraya Benhamamouch; David Comas (September 24, 2015). "Genetic Heterogeneity in Algerian Human Populations". PLoS ONE. 10 (9). doi:10.1371/journal.pone.0138453. Retrieved 8 May 2016.; S5 Table
  10. 1 2 3 4 5 6 Mohamed, Hisham Yousif Hassan. "Genetic Patterns of Y-chromosome and Mitochondrial DNA Variation, with Implications to the Peopling of the Sudan" (PDF). University of Khartoum. Retrieved 22 April 2016.
  11. ↑ A. Stevanovitch; A. Gilles; E. Bouzaid; R. Kefi; F. Paris; R. P. Gayraud; J. L. Spadoni; F. El-Chenawi; E. Béraud-Colomb (January 2004). "Mitochondrial DNA Sequence Diversity in a Sedentary Population from Egypt". Annals of Human Genetics. 68 (1): 23–39. doi:10.1046/j.1529-8817.2003.00057.x. Retrieved 12 May 2016.
  12. ↑ Lucia Simoni, Francesc Calafell, Davide Pettener, Jaume Bertranpetit, and Guido Barbujani, Geographic Patterns of mtDNA Diversity in Europe, American Journal of Human Genetics, vol. 66 (2000), pp. 262–278.
  13. ↑ Different genetic components in the Norwegian population revealed by the analysis of mtDNA & Y chromosome polymorphisms
  14. ↑ Gómez-Durán, Aurora; Pacheu-Grau, David; Martínez-Romero, Íñigo; López-Gallardo, Ester; López-Pérez, Manuel J.; Montoya, Julio; Ruiz-Pesini, Eduardo (2012). "Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1822 (8): 1216–1222. doi:10.1016/j.bbadis.2012.04.014. ISSN 0925-4439.
  15. ↑ Hendrickson SL, Hutcheson HB, Ruiz-Pesini E, et al. (November 2008). "Mitochondrial DNA haplogroups influence AIDS progression". AIDS. 22 (18): 2429–39. doi:10.1097/QAD.0b013e32831940bb. PMC 2699618Freely accessible. PMID 19005266.
  16. ↑ A Comprehensive Analysis of mtDNA Haplogroup J (Jim Logan. September, 2008)
  17. ↑ Fernández-Caggiano, Maria; Javier Barallobre-Barreiro; Ignacio Rego-Pérez; María G. Crespo-Leiro; María Jesus Paniagua; Zulaika Grillé; Francisco J. Blanco; Nieves Doménech (2012). "Mitochondrial Haplogroups H and J: Risk and Protective Factors for Ischemic Cardiomyopathy". PLOS ONE. 7 (8): e44128. doi:10.1371/journal.pone.0044128. PMC 3429437Freely accessible. PMID 22937160. Retrieved 16 April 2014.
  18. ↑ Rego, I; Fernandez-Moreno, M; Fernandez-Lopez, C; Gomez-Reino, J J; Gonzalez, A; Arenas, J; Blanco, F J (2009). "Role of European mitochondrial DNA haplogroups in the prevalence of hip osteoarthritis in Galicia, Northern Spain". Annals of the Rheumatic Diseases. 69 (01): 210–213. doi:10.1136/ard.2008.105254. ISSN 0003-4967.
  19. ↑ Soto-Hermida, A.; Fernández-Moreno, M.; Oreiro, N.; Fernández-López, C.; Rego-Pérez, I.; Blanco, F.J. (2014). "mtDNA haplogroups and osteoarthritis in different geographic populations". Mitochondrion. 15: 18–23. doi:10.1016/j.mito.2014.03.001. ISSN 1567-7249.
  20. ↑ van der Walt, Joelle M.; Nicodemus, Kristin K.; Martin, Eden R.; Scott, William K.; Nance, Martha A.; Watts, Ray L.; Hubble, Jean P.; Haines, Jonathan L.; Koller, William C.; Lyons, Kelly; Pahwa, Rajesh; Stern, Matthew B.; Colcher, Amy; Hiner, Bradley C.; Jankovic, Joseph; Ondo, William G.; Allen Jr., Fred H.; Goetz, Christopher G.; Small, Gary W.; Mastaglia, Frank; Stajich, Jeffrey M.; McLaurin, Adam C.; Middleton, Lefkos T.; Scott, Burton L.; Schmechel, Donald E.; Pericak-Vance, Margaret A.; Vance, Jeffery M. (2003). "Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease". The American Journal of Human Genetics. 72 (4): 804–811. doi:10.1086/373937. ISSN 0002-9297.
  21. ↑ 23andMe
  22. ↑ http://quo.mx/2012/05/30/plus/la-genetica-tras-la-belleza-de-ximena
  23. ↑ King, Turi E.; Fortes, Gloria Gonzalez; Balaresque, Patricia; Thomas, Mark G.; Balding, David; Delser, Pierpaolo Maisano; Neumann, Rita; Parson, Walther; Knapp, Michael; Walsh, Susan; Tonasso, Laure; Holt, John; Kayser, Manfred; Appleby, Jo; Forster, Peter; Ekserdjian, David; Hofreiter, Michael; Schürer, Kevin (2014). "Identification of the remains of King Richard III". Nature Communications. 5: 5631. doi:10.1038/ncomms6631. ISSN 2041-1723.

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