Haplogroup
From ISOGG Wiki
A haplogroup is a genetic population group of people who share a common ancestor on the patriline or the matriline. Top-level haplogroups are assigned letters of the alphabet, and deeper refinements consist of additional number and letter combinations. For Y-DNA, a haplogroup may be shown in the long-form nomenclature established by the Y Chromosome Consortium, or it may be expressed in a short-form using a deepest-known single-nucleotide polymorphism (SNP).
Contents
Y-chromosome DNA haplogroups
Y-chromosome DNA (Y-DNA) haplogroups are determined by single-nucleotide polymorphism (SNP) tests. SNPs are locations on the DNA where one nucleotide has "mutated" or "switched" to a different nucleotide.
Because a haplogroup consists of similar haplotypes, it is possible to predict a haplogroup from the haplotype. A SNP test is required to confirm the haplogroup prediction. Not all the testing companies offer SNP testing, and consequently their customers' haplogroup predictions are sometimes inaccurate. For advice on SNP testing it is recommended that you join the appropriate Y-DNA haplogroup project and seek advice from the volunteer project administrators.
ISOGG maintains the most up-to-date version of the Y-SNP tree. The tree is updated as and when new branch-defining SNPs are discovered. The criteria for inclusion of SNPs in the tree are published here.
Phylotree maintains a minimal reference phylogeny for the human Y-chromosome, an abbreviated version of the Y-tree showing only the principal branches. The Phylotree Y tree can be found here. Background information on the methodology of the tree and the SNPs included can be found here.
There are a number of tools that can be used to predict the Y-DNA haplogroup. For a full list see the ISOGG Wiki page Y-DNA tools.
Y-SNP trees
- ISOGG Y-SNP tree
- FamilyTreeDNA Y-haplotree
- Ybrowse
- Phylotree's Y-tree A minimal reference phylogeny for the human Y-chromosome
- The new 2014 Y-chromosome tree from the Genographic Project
- The YFull version of the Y-SNP tree
- Ray Banks' composite Y tree
- James Kane's experimental haplogroup R tree
For a list of online trees for haplogroup R1b and subclades see the list of R1b trees
Y-DNA haplogroup resources
- Y-DNA haplogroup converter A useful tool which allows you to enter your most downstream SNP name and see the haplogroup name using the current or historical versions of the ISOGG Y-SNP tree
- Y-SNPs and haplogroups DNA Heritage masterclass N.B. DNA Heritage was acquired by Family Tree DNA in 2012.
- Y haplogroups brief descriptions and regional origins
- Wikipedia page on human Y-chromosome DNA haplogroups
- Eupedia haplogroup pages and maps
- Y haplogroups of the world
- An interactive atlas showing major haplogroup populations by country
- Geno 2.0 Y haplogroup percentages from the Genographic Project
- Geno 2.0 Y haplogroup percentages from the Genographic Project for R-U106 only
- 2002, The Y Chromosome Consortium and our paternal family tree by Rebekah Canada, Haplogroup blog, 27 December 2017.
See also
- Y-DNA haplogroup projects
- Y-DNA Haplogroup ages
- SNP testing
- BritainsDNA Y-DNA haplogroup nicknames
- Haplogroup J2a (Y-DNA)
- Haplogroup R1b (Y-DNA)
- Y Chromosome Consortium
- Y-DNA famous people
Mitochdondrial DNA haplogroups
When you have taken a mitochondrial DNA (mtDNA) test most companies will give you a prediction of your mtDNA haplogroup. The haplogroup can however only be confirmed by testing specific branch-defining single-nucleotide polymorphisms (SNPs), some of which are only found in the coding region. If no SNP tests are done there is a possibility that the prediction will be incorrect. mtDNA tests from Family Tree DNA (HVR1 and HVR2) and the Genographic Project version 1 (HVR1) include a panel of 22 SNPs to confirm the base haplogroup, but rarely can determine the specific subclade. Similarly, 23andMe tests a set of SNPs that predict haplogroup assigments according to a now-outdated version of the mtDNA tree. Therefore, for those who wish to discover or confirm their exact haplogroup (subclade) assignment and to know exactly where they fit on the latest version of the mtDNA tree (applicable to all future versions of the tree), they will need the mtFull-Sequence test (available from FTDNA) either for themselves or a relative in the their direct maternal line.
The most up-to-date version of the mtDNA tree is maintained by Mannis van Oven on the Phylotree website.
To check or predict a haplogroup assignment use James Lick's free mtHap tool. For additional mtDNA resources see the article on mtDNA tools.
mtDNA haplogroup resources
- Phylotree The phylogenetic tree of global human mitochondrial DNA variation
- FamilyTreeDNA's mtDNA haplotree
- YFUll's mtDNA tree
- FTDNA's list of mtDNA haplogroup-defining mutations
- An mtDNA view of the peopling of the world by Homo sapiens (Internet Archive version)
- Wikipedia page on human mitochondrial DNA haplogroups
- Eupedia haplogroup pages and maps
- MtDNA haplogroup descriptions and information links by Charles Kerchner
- Geno 2.0 mtDNA haplogroup percentages from the Genographic Project
Scientific papers
Y-DNA
- Chiaronia J, Underhill PA, Cavalli-Sforza LL (2009). Y chromosome diversity, human expansion, drift, and cultural evolution. Proceedings of the National Academy of Sciences of the United States of America 106 (48): 20174-20179. Includes worldwide distribution maps.
- Karafet TM, Mendez FL, Meilerman MB et al (2008). New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Research 18: 830-838.
- Hammer MF, Zegura SL (2002). The human Y chromosome haplogroup tree: nomenclature and phylogeography of its major divisions. Annual Reviews of Anthropology 31: 303-321.
- Y Chromosome Consortium (2002). A nomenclature system for the tree of human Y-chromosomal binary haplotypes. Genome Research 12: 339–348
General resources
- Wikipedia list of haplogroups of historical and famous figures
- The haplogroup is dead, long live the haplogroup! (part 1) Why mtDNA and Y-chromosomal lineages matter by Razib Khan. Razib Khan's Unsupervised Learning, 23 June 2022.
- The haplogroup is dead, long live the haplogroup!(part 2) What mtDNA and Y-chromosomal lineages can still tell us by Razib Khan. Razib Khan's Unsupervised Learning, 25 June 2022.
- Understanding haplogroups by Steve Handy. DNA Genealogical Experiences and Tutorials blog, 3 November 2012.
- History of Y-DNA and mtDNA haplogroups from Eupedia
- The Journey of Mankind: the Peopling of the World an interactive map from the Bradshaw Foundation
- Tracing human migrations from Africa with mitochondrial DNA and Y chromosomal variants - a basic introduction by Preston Garrison, The Art of the Soluble blog, 31 December 2014.
- Understanding correlations and debunking misconceptions in DNA genealogy by Steve Handy. DNA Genealogical Experiences and Tutorials blog, 29 May 2013.