Return to Haplogroup R
NOTE: Corrections/Additions made to this page are shown at the bottom of the main Haplogroup R page.
Frequently Mutating SNPs are SNPs that appear many times in many places either in one or more haplogroups. They are inconsistent and not useful for genealogical purposes.
NOTES:
References:
Adams et al,
The
Case of the Unreliable SNP: Recurrent Back-mutation of Y-chromosomal
Marker P25 Through
Gene Conversion. (abstract) Forensic Science International
159:14-20, 2006.
Adams et al,
The
Genetic Legacy of Religious Diversity and Intolerance: Paternal
Lineages of
Christians, Jews, and Muslims in the Iberian Peninsula,
American Journal of
Human Genetics, 83(6): 725-36, 2008.
Alonso et al,
The
Place of the Basques in the European
Y-chromosome Diversity Landscape. (available by subscription)
European Journal of
Human Genetics, 13:1293-1302, 2005.
Balanovsky et al,
Parallel
Evolution of Genes and Languages in the Caucasus Region.
Molecular Biology and Evolution, 13 May 2011.
Balaresque et al,
A
Predominantly Neolithic Origin for European Paternal Lineages.
PLoS biology. 8(1):e1000285 2010.
Behar et al,
Contrasting
Patterns of Y Chromosome Variation in Ashkenazi Jewish and Host
Non-Jewish European Populations. (pdf) Human Genetics
114:354-365, 2004.
Behar et al,
Genome-Wide
Structure of the Jewish People.
Nature, 446:238-42, 2010.
Bosch et al,
Paternal
and Maternal Lineages in the Balkans Show a Homogeneous Landscape over
Linguistis Barriers
except for the Isolated Aromuns.
Annals of Human Genetics, 70:459-87, (2006).
Capelli et al,
Population
Structure in the Mediterranean Basin: A Y Chromosome Perspective.
(pdf)
Annals of Human Genetics, 2005.
Cinnioglu et al,
Excavating
Y-chromosome Haplotype Strata in Anatolia. (pdf) Human
Genetics, 114:127-148, 2004.
Cruciani et al,
A
Back Migration from Asia to Sub-Saharan Africa Is Supported
by High-Resolution Analysis of Human Y-Chromosome Haplotypes.
American Journal of Human Genetics, 70:1197-1214, 2002.
Cruciani et al,
Human
Y Chromosome Haplogroup R-V88: A Paternal Genetic Record of Early Mid
Holocene
Trans-Saharan Connections and the Spread of Chadic Languages.
(abstract) (Epub ahead of print)
European Journal of Human Genetics, January 6, 2010a.
Cruciani et al,
Strong
Intra- and Inter-continental Differentiation Revealed by Y chromosome
SNPs M269, U106 and U152.
Forensic Science International. Genetics,7-10, 2010b.
Deng et al,
Evolution
and Migration History of the Chinese Population Inferred from the
Chinese Y-chromosome Evidence.
(pdf) Journal of Human Genetics, 49:339-348, 2004.
Dulik et al,
Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a
Recent Common Ancestry between Native
Americans and Indigenous Altaians. (pdf) The American Journal
of Human Genetics, doi:
10.1016/ajhg.2011.12.014, 2012.
Flores et al,
Reduced
Genetic Structure of the Iberian Peninsula Revealed by Y-chromosome
Analysis: Implications for Population Demography. (pdf)
European Journal of Human Genetics,
12:855-863, 2004.
Francalacci et al,
Low-Pass
DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome
Phylogeny.
Science: Vol. 341 no. 6145, pp. 565-569, DOI: 10.1126/science.1237947,
2 August 2013.
Hallast et al, The
Y-chromosome Tree Bursts into Leaf: 13,000 High-confidence SNPs
Covering the Majority of Known Clades, Molecular Biology and
Evolution, doi: 10.1093/molbev/msu327, 2014.
Herrera et al,
Neolithic
Patrilineal Signals Indicate that the Armenian Plateau was Repopulated
by Agriculturalists.
European Journal of Human Genetics, 10.1038/ejhg.2011.192, 2011.
Hinds et al,
Whole-genome
Patterns of Common DNA Variation in Three Human Populations.
Science, 307:1072-1079, 2005.
Karafet et al,
New
Binary Polymorphisms Reshape and Increase Resolution of the Human
Y-Chromosomal Haplogroup
Tree. Abstract. Genome Research, published online April 2,
2008.
Supplementary
Material.
Karafet et al,
Paternal Population History of East Asia: Sources, Patterns,
and Microevolutionary Processes. (pdf) American Journal of
Human Genetics,
69:615-628, 2001.
Karlsson et al,
Y-chromosome Diversity in Sweden - A Long-time Perspective.
(pdf)
European Journal of Human Genetics, 14:963-970, 2006.
Karmin et al,
A Recent Bottleneck of Y chromosome Diversity Coincides with a Global
Change in Culture. Genome Research, doi:
10.1101/gr.186684.114, published online March 13, 2015.
Kayser et al.
Reduced Y-Chromosome, but Not Mitochondrial DNA, Diversity in Human
Populations from West New
Guinea. American Journal of Human Genetics, 72:281-302, 2003.
Kivisild et al,
The
Genetic Heritage of the Earliest Settlers Persists in Both Indian
Tribal and Caste
Populations. (pdf) American Journal of Human Genetics,
72:313-332, 2003.
Malhi et al,
Distribution
of Y Chromosomes among Native North Americans: A Study of Athapaskan
Population History
American Journal of Physical Anthropology, 137:412-24, 2008.
McEvoy et al,
Y-chromosomes
and the Extent of Patrilineal Ancestry in Irish Surnames
(abstract)
Human Genetics 2006 Jan 12;:1-8 (Epub ahead of print).
Mohyuddin et al,
Detection
of Novel Y SNPs Provides Further Insights into Y Chromosomal Variation
in Pakistan.
Journal of Human Genetics, 2006.
Moore et al,
A
Y-chromosome Signature of Hegemony in Gaelic Ireland.
American Journal of Human Genetics, 78(2):334-338, 2006.
Myres et al,
A
Major Y-chromosome Haplogroup R1b Holocene Era Founder Effect in
Central and Western Europe.
European Journal of Human Genetics: EJHG. (July):1-7, 2010.
Myres et al, (2007),
Y-chromosome
Short Tandem Repeat DYS458.2 Non-concensus Alleles Occur Independently
in Both Binary
Haplogroups J1-M267 and R1b3-M405. Croatian Medical Journal,
48, 2007.
Nasidze et al,
MtDNA
and Y-chromosome Variation in Kurdish Groups. (abstract)
Annals of Human Genetics,
69:401-412, 2005.
Regueiro et al,
Iran:
Tricontinental Nexus for Y-Chromosome Driven Migration.
(abstract)
Human Heredity, Vol. 61, No 3, 132-143, 2006.
Repping et al,
High
Mutation Rates Have Driven Extensive Structural Polymorphism among
Human Y Chromosomes. (pdf)
National Genetics, 38: 463-467, 2006.
Rocca et al,
Discovery
of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes
Project Data: An Online Community Approach. (pdf)
PLoS ONE 7(7): e41634. doi:10.1371/journal.pone.0041634, 2012.
Rootsi et al,
Phylogenetic
Applications of Whole Y-chromosome Sequences and the Near Eastern
Origin of Ashkenazi Levites. Nature Communications 4, Article
number: 2928, doi:10.1038/ncomms3928, 2013.
Rozen et al,
Remarkably
Little Variation in Proteins Encoded by the Y Chromosome's Single-Copy
Genes, Implying Effective
Purifying Selection. American Journal of Human Genetics. 2009
December 11; 85(6): 923-928.
Semino et al,
The
Genetic Legacy of Paleolithic Homo Sapiens Sapiens in Extant Europeans.
(pdf)
Science, V290:1155-1159, 2000.
Semino et al,
Ethiopians
and Khoisan Share the Deepest Clades of the Human Y-Chromosome
Phylogeny. (pdf)
American Journal of Human Genetics, 70:265-268, 2002.
Sengupta et al,
Polarity
and Temporality of High Resolution Y-chromosome Distributions in India
Identify Both Indigenous and Exogenous Expansions and Reveal Minor
Genetic Influence
of Central Asian Pastoralists. (available by subscription)
American Journal of Human Genetics, 78:202-221, 2006.
Sharma et al,
The
Indian Origin of Paternal Haplogroup R1a1 Substantiates the
Autochthonous Origin of Brahmins and the Caste
SystemOrigin of Paternal Haplogroup R1a1. (abstract)
Journal of Human Genetics, 54:47-55, 2009.
Shen et al,
Reconstruction
of Patrilineages and Matrilineages of Samaritans and other Israeli
Populations from Y-Chromosome
and Mitochondrial DNA Sequence Variation. (pdf) Human
Mutation, 24:248-260, 2004.
Sims et al,
Sub-Populations Within the Major European and African Derived
Haplogroups R1b3 and
E3a Are Differentiated by Previously Phylogenetically Undefined Y-SNPs.
Human Mutation: Mutation in Brief #940, Online, 2007.
Su et al,
Y-chromosome
Evidence for a Northward Migration of Modern Humans into Eastern Asia
during the Last Ice Age. (pdf) American Journal of Human
Genetics, 65:1718-1724, 1999.
Underhill et al,
Separating
the Post-Glacial Coancestry of European and Asian Y Chromosomes within
Haplogroup R1a.
(abstract) European Journal of Human Genetics, 1-6, 2009.
Underhill et al,
The
Phylogenetic and Geographic Structure of Y-chromosome Haplogroup R1a.
European Journal of Human Genetics, doi:10.1038/ejhg.2014.50, 2014.
Valone et al,
Y
SNP Typing of African-American and Caucasian Samples Using
Allele-Specific
Hybridization and Primer Extension. (pdf) Journal of Forensic
Science, 49:4, July 2004.
Van Geystelen et al,
In
silico detection of phylogenetic informative Y-chromosomal single
nucleotide polymorphisms from whole genome sequencing data.
(abstract) ELECTROPHORESIS, doi: 10.1002/elps.201300459, 35:3102-10,
Nov 2014.
Wells et al,
The
Eurasian Heartland: A Continental Perspective on Y-chromosome Diversity.
PNAS, Vol. 98; 18:10244-10249, 2001.
Zhao et al,
Presence
of Three Different Paternal Lineages among North Indians: A Study of
560 Y Chromosomes. (abstract)
Annals of Human Biology, 36(1):46-59, 2009.
Return to Haplogroup R