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In human population genetics, Y chromosomehaplogroups define the major lineages of direct paternal (male) lines back to a shared common ancestor in Africa. Men in the same haplogroup share a set of differences, or markers, on their Y-chromosome, which distinguish them from men in other haplogroups. These UEPs, or markers used to define haplogroups, are SNPmutations. Y-chromosome haplogroups all form family trees or phylogenies, with both branches or sub-clades diverging from a common haplogroup ancestor, and also with all haplogroups themselves linked into one family tree which traces back ultimately to the most recent shared male lineancestor of all men alive today, called in popular scienceY Chromosome Adam.
History
Creation of the Y-Chromosome Consortium
In the 1980s and 1990s, individual academic research groups each had their own nomenclature for naming Y-chromosome haplogroups. This created an increasingly unmanageable communication barrier. In 2002, the Y-Chromosome Consortium (YCC) published a widely used proposal to standardize the naming of all Y-chromosome haplogroups. This effort was based on comprehensive retesting of DNA samples (YCC 2002).
The Y-Chromosome Consortium for many years left individual groups to maintain this standard. In 2008, they again published a comprehensive review of tree changes and retested samples. With this work, they strengthened their recommendation to move to a nomenclature system they referred to as shorthand (Karafet 2008).
Creation of the International Society of Genetic Genealogy (ISOGG) Tree Committee
In 2006, a group of citizen scientists with an interest in genetic genealogy formed a working group to document both their own discoveries and those in published research. They created a web based tree that attempted to be timely and had annual benchmark versions.[citation needed]
Conversion table
The table below brings together all of these works at the point of the landmark 2002 YCC Tree. This allows a researcher reviewing older published literature to quickly move between nomenclatures.
^Van Oven M, Van Geystelen A, Kayser M, Decorte R, Larmuseau HD (2014). "Seeing the wood for the trees: a minimal reference phylogeny for the human Y chromosome". Human Mutation. 35 (2): 187–91. doi:10.1002/humu.22468. PMID24166809. S2CID23291764.
^K-M2313*, which as yet has no phylogenetic name, has been documented in two living individuals, who have ethnic ties to India and South East Asia. In addition, K-Y28299, which appears to be a primary branch of K-M2313, has been found in three living individuals from India. See: Poznik op. cit.; YFull YTree v5.08, 2017, "K-M2335", and; PhyloTree, 2017, "Details of the Y-SNP markers included in the minimal Y tree" (Access date of these pages: 9 December 2017)
^ Haplogroup S, as of 2017, is also known as K2b1a. (Previously the name Haplogroup S was assigned to K2b1a4.)
^ Haplogroup M, as of 2017, is also known as K2b1b. (Previously the name Haplogroup M was assigned to K2b1d.)
Notes
^Terminal mutations are often not unique, other equally descriptive mutations may be listed separated by colons.
^ abM35.1 (formerly just M35) and M35.2 are both single-nucleotide polymorphisms of base nr. 19579817,[2] M35.1 is a G🡒C and M35.2 a C🡒T point mutation. To test for clade E1b1b1, position 19579817 must be tested for both M35.1 and M35.2 (i.e. for C or T). Testing negative for M35.1 without testing for M35.2 does not exclude membership in clade E1b1b1a1b1a3~ (unless the ancestral G‑polymorphism is explicitly confirmed).
Thus old-tests for M35 tested for the paraphyletic group E1b1b1(xE1b1b1a1b1a3~) (ISOGG2019/20 clade names).
References
^P. A. Underhill, G. D. Poznik, S. Rootsi, M. Järve, A. A. Lin, J. Wang, B. Passarelli, J. Kanbar, N. M. Myres, R. J. King, J. Di Cristofaro, H. Sahakyan, D. M. Behar, A. Kushniarevich, J. Sarac, T. Saric, P. Rudan, A. K. Pathak, G. Chaubey, V. Grugni, O. Semino, L. Yepiskoposyan, A. Bahmanimehr, S. Farjadian, O. Balanovsky, E. K. Khusnutdinova, R. J. Herrera, J. Chiaroni, C. D. Bustamante, S. R. Quake, T. Kivisild, R. Villems: The phylogenetic and geographic structure of Y-chromosome haplogroup R1a. In: European journal of human genetics : EJHG. [elektronische Veröffentlichung vor dem Druck] März 2014, doi:10.1038/ejhg.2014.50, PMID 24667786, PMC4266736.
Y Chromosome Consortium "YCC" (2002), "A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups", Genome Research, 12 (2): 339–48, doi:10.1101/gr.217602, PMC155271, PMID11827954
Karafet, T. M.; Mendez, F. L.; Meilerman, M. B.; Underhill, P. A.; Zegura, S. L.; Hammer, M. F. (2008), "New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree", Genome Research, 18 (5): 830–8, doi:10.1101/gr.7172008, PMC2336805, PMID18385274
Semino, O.; Passarino, G; Oefner, PJ; Lin, AA; Arbuzova, S; Beckman, LE; De Benedictis, G; Francalacci, P; et al. (2000), "The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective", Science, 290 (5494): 1155–9, Bibcode:2000Sci...290.1155S, doi:10.1126/science.290.5494.1155, PMID11073453
Underhill, Peter A.; Shen, Peidong; Lin, Alice A.; Jin, Li; Passarino, Giuseppe; Yang, Wei H.; Kauffman, Erin; Bonné-Tamir, Batsheva; Bertranpetit, Jaume; Francalacci, Paolo; Ibrahim, Muntaser; Jenkins, Trefor; Kidd, Judith R.; Mehdi, S. Qasim; Seielstad, Mark T.; Wells, R. Spencer; Piazza, Alberto; Davis, Ronald W.; Feldman, Marcus W.; Cavalli-Sforza, L. Luca; Oefner, Peter J. (November 2000). "Y chromosome sequence variation and the history of human populations". Nature Genetics. 26 (3): 358–361. doi:10.1038/81685. PMID11062480. S2CID12893406.