Haplogroup R1b (Y-DNA)

Haplogroup R1b
Possible time of origin	less than 18,500 years BP[1]
Possible place of origin	Southwest Asia [2]
Ancestor	R1
Descendants	R1b1a (R-P297), R1b1b (R-M335), R1b1c (R-V88)
Defining mutations	1. M343 defines R1b in the broadest sense 2. P25 defines R1b1, making up most of R1b, and is often used to test for R1b 3. In some cases, major downstream mutations such as M269 are used to identify R1b, especially in regional or out-of-date studies
Highest frequencies	Western Europe, Northern Cameroon, Hazara, Bashkirs

In human genetics, Haplogroup R1b is the most frequently occurring Y-chromosome haplogroup in Western Europe, parts of central Eurasia (for example Bashkortostan^[3]), and in parts of sub-Saharan Central Africa (for example around Chad and Cameroon). R1b is also present at lower frequencies throughout Eastern Europe, Western Asia, Central Asia, and parts of South Asia and North Africa. Due to European emigration it also reaches high frequencies in the Americas and Australia. While Western Europe is dominated by the R1b1a2 (R-M269) branch of R1b, the Chadic-speaking area in Africa is dominated by the branch known as R1b1c (R-V88). These represent two very successful "twigs" on a much bigger "family tree."

Contents 1 Nomenclature 2 Origin and dispersal 3 Root of R1b tree 4 R1b (R-M343) 4.1 Frequency Table of R1b1 (R-P25) Subclades 4.2 R1b1 (R-P25) 4.3 R1b1a (R-P297) 4.3.1 R1b1a1 (R-M73) 4.3.2 R1b1a2 (R-M269) 4.3.2.1 R1b1a2a1a1a (R-U106) 4.3.2.2 R1b1a2a1a1b (R-P312) 4.4 R1b1b (R-M335) 4.5 R1b1c (R-V88) 4.5.1 R1b1c1 (R-M18) 4.6 Historical note 5 Popular culture 6 See also 7 References 8 External links 9 Maps 10 Projects

Nomenclature

"R1b", "R1b1", and so on are "phylogenetic" or family tree based names which explain the branching of the family tree of R1b. For example R1b1a and R1b1b would be branches of R1b1, descending from a common ancestor. This means that these names can change with new discoveries.

The alternative way of naming haplogroups is to refer to the SNP mutations used to define and identify them, for example "R-M343" which is equivalent to "R1b." Haplogroup R1b is in other words now identified by the presence of the single-nucleotide polymorphism (SNP) mutation M343, which was discovered in 2004.^[4] From 2002 to 2005, R1b was defined by the presence of the SNP named P25.

Standardized naming as described above, both using phylogenetic or mutational systems, was first proposed in 2002 by the Y Chromosome Consortium. Prior to 2002, today's Haplogroup R1b had a number of names in differing nomenclature systems, such as Hg1 and Eu18.^[5]

After 2002, a major update of the YCC phylogenetic nomenclature was made in 2008 by Karafet et al. which took account of newer discoveries of branches which could be clearly defined by SNP mutations, including some which changed the understanding of R1b's family tree.^[1] Since 2008 it has become increasing necessary to refer to the frequently updated listing made on the ISOGG website.^[2]

Also prior to 2002, major Y DNA signatures based on markers other than SNPs were recognized. In Western Europe the STR haplotype known as the Atlantic Modal Haplotype was found to be most common by Wilson et al.^[6] Even earlier research using RFLP genotyping identified two distinct haplotypes within what is now called R1b1b2. In southeast Europe and southwest Asia (e.g. the Balkans, Georgia and Turkey) "haplotype 35" or "ht35" was found to be a common form of R1b1b2, whereas in western Europe "haplotype 15" or "ht15" dominated in frequency.^[4]

Origin and dispersal

R1b is a sub-clade within the much larger Eurasian MNOPS "macro-haplogroup", which is one of the predominant groupings of all the rest of human male lines outside of Africa, and this whole group, along indeed with all of macro-haplogroup F, is believed to have originated in Asia.

Macro-haplogroup MNOPS

Haplogroup M. New Guinea, Melanesia, eastern Indonesia, and Polynesia. Macro-haplogroup NO Haplogroup N. Mainly found in North Asia and northeastern Europe. Haplogroup O. Mainly found in East Asia, Southeast Asia, and Austronesia. Macro-haplogroup P Haplogroup Q. Mainly found in North Asia and the Americas. Macro-haplogroup R Macro-haplogroup R1 Haplogroup R1a. Mainly found in Eastern Europe, Central Asia and South Asia. Haplogroup R1b. Mainly found in Western Europe, Central Africa and South West Asia. Haplogroup R2. Mainly found in South Asia. Haplogroup S. New Guinea, Melanesia, and eastern Indonesia.

The point of origin of R1b is thought to lie in Eurasia, most likely in Western Asia.^[7] T. Karafet et al. estimated the age of R1, the parent of R1b, as 18,500 years before present.^[1]

Early research focused upon Europe. In 2000 Ornella Semino and colleagues argued that R1b had been in Europe before the end of Ice Age, and had spread north from an Iberian refuge after the Last Glacial Maximum.^[8] Age estimates of R1b in Europe have steadily decreased in more recent studies, at least concerning the majority of R1b, with more recent studies suggesting a Neolithic age or younger.^[7][9] However some authors continue to argue for an older date.^[10][11]

Barbara Arredi and colleagues were the first to point out that the distribution of R1b STR variance in Europe forms a cline from east to west, which is more consistent with an entry into Europe from Western Asia with the spread of farming.^[12] A 2009 paper by Chiaroni et al. added to this perspective by using R1b as an example of a wave haplogroup distribution, in this case from east to west.^[13] The proposal of a southeastern origin of R1b were supported by three detailed studies based on large datasets published in 2010. These detected that the earliest subclades of R1b are found in western Asia and the most recent in western Europe.^[7][9][14] While age estimates in these articles are all more recent than the Last Glacial Maximum, all mention the Neolithic, when farming was introduced to Europe from the Middle East as a possible candidate period. Myres et al. (August 2010), and Cruciani et al. (August 2010) both remained undecided on the exact dating of the migration or migrations responsible for this distribution, not ruling out migrations earlier or later than the Neolithic.^[7]

European R1b is now known to be dominated by R-M269, and the origins of this branch are discussed further in more detail below.

Root of R1b tree

For clarity, the identifiers below are those from both the 2010 and 2011 revisions of the ISOGG tree.^[2]

Contrasting family trees for R1b

2010 ISOGG tree	2011 ISOGG tree
M343 still un-defined R-M343* (R1b*) P25 still un-defined R-P25* (R1b1*) V88 R-V88 (R1b1a). Most common Sub-Saharan African R1b. P297 still un-defined R-P297* (R1b1b*) M73 R-M73 (R1b1b1). Found in Anatolia, Caucasus, Urals, Hazara M269 still un-defined R-M269* (R1b1a2*) L23 R-L23 (R1b1a2a). Most common European R1b	M343 still un-defined R-M343* (R1b*) P25 still un-defined R-P25* (R1b1*) P297 still un-defined R-P297* (R1b1a*) M73 R-M73 (R1b1a1). Found in Anatolia, Caucasus, Urals, Hazara M269 still un-defined R-M269* (R1b1a2*) L23 R-L23 (R1b1a2a). Most common European R1b M335 R-M335 (R1b1b) V88 R-V88 (R1b1c). Most common Sub-Saharan African R1b.

R1b (R-M343)

R1b* (that is R1b with no subsequent distinguishing SNP mutations) is extremely rare. Two cases were reported in a large study of Turkey.^[4] In a study of Jordan it was found that no less than 20 out of all 146 men tested (13.7%), including most notably 20 out of 45 men tested from the Dead Sea area, were positive for M173 (R1) but negative for P25 and M269, mentioned above, as well as the R1a markers SRY10831.2 and M17, so they are either R1b* or R1a*.^[15] Hassan et al. (2008) found an equally surprising 14 out of 26 (54%) of Sudanese Fulani who were M173+ and P25-.^[16] Wood et al. report 2 Egyptian cases of R1-M173 which were negative for SRY10831 (R1a1) and P25 (R1b1), out of a sample of 1122 males from various African countries, including 92 from Egypt.^[17] Such cases could possibly be either R1b* (R-M343*) or R1a* (R-M420*) (demonstrating the importance of checking exact mutations tested when comparing findings in this field).

It is however also possible that some of the rare examples represent a reversion of marker P25 from a positive back to a negative ancestral state.^[18]

Frequency Table of R1b1 (R-P25) Subclades

An up-to-date compilation of data taking the latest information into account can be found in Cruciani et al. (2010) which can be summarised as follows.^[19] As will be discussed below however, in some parts of western and northwestern Europe, R-M269 frequencies can reach even higher levels.

Continent	Population	#No.	Total%	R-P25*	R-V88	R-M269	R-M73
Africa	Northern Africa	691	5.9%	0.0%	5.2%	0.7%	0.0%
Africa	Central Sahel Region	461	23.0%	0.0%	23.0%	0.0%	0.0%
Africa	Western Africa	123	0.0%	0.0%	0.0%	0.0%	0.0%
Africa	Eastern Africa	442	0.0%	0.0%	0.0%	0.0%	0.0%
Africa	Southern Africa	105	0.0%	0.0%	0.0%	0.0%	0.0%
Europe	Western Europeans	465	57.8%	0.0%	0.0%	57.8%	0.0%
Europe	North western Europeans	43	55.8%	0.0%	0.0%	55.8%	0.0%
Europe	Central Europeans	77	42.9%	0.0%	0.0%	42.9%	0.0%
Europe	North Eastern Europeans	74	1.4%	0.0%	0.0%	1.4%	0.0%
Europe	Russians	60	6.7%	0.0%	0.0%	6.7%	0.0%
Europe	Eastern Europeans	149	20.8%	0.0%	0.0%	20.8%	0.0%
Europe	Balkanians	510	13.1%	0.0%	0.2%	12.9%	0.0%
Asia	Western Asians	328	5.8%	0.0%	0.3%	5.5%	0.0%
Asia	Southern Asians	288	4.8%	0.0%	0.0%	1.7%	3.1%
Asia	South eastern Asians	10	0.0%	0.0%	0.0%	0.0%	0.0%
Asia	North eastern Asians	30	0.0%	0.0%	0.0%	0.0%	0.0%
Asia	Eastern Asians	156	0.6%	0.0%	0.0%	0.6%	0.0%
	TOTAL	5326

R1b1 (R-P25)

R1b1*, like R1b* is rare. As mentioned above, examples are described in older articles, for example two in a sample from Turkey,^[4] but most cases, especially in Africa, are now thought to be almost mostly in the more recently discovered sub-clade R-V88 (see below). Most or all examples of R1b therefore fall into subclades R1b1a (R-V88) or R1b1b (R-P297). Cruciani et al. in the large 2010 study found 3 cases amongst 1173 Italians, 1 out of 328 West Asians and 1 out of 156 East Asians.^[19] Varzari found 3 cases in the Ukraine, in a study of 322 people from the Dniester-Carpathian region, who were P25 positive, but M269 negative.^[20] Cases from older studies are mainly from Africa, the Middle East or Mediterranean, and are discussed below as probable cases of R1b1a (R-V88).

R1b1a (R-P297)

R1b1a is defined by the presence of SNP marker P297. In 2008 this polymorphism was recognised to combine M73 and M269 into one R1b1a cluster.^[1] The majority of Eurasian R1b is within this clade, representing a very large modern population. Although P297 itself has not yet been much tested for, the same population has been relatively well studied in terms of other markers. Therefore the branching within this clade can be explained in relatively high detail below.

R1b1a1 (R-M73)

R1b1a1 (2011 name) is defined by the presence of SNP marker M73. It has been found at generally low frequencies throughout central Eurasia,^[21] but has been found with relatively high frequency among particular populations there including Hazaras in Pakistan (8/25 = 32%);^[22] and Bashkirs in Bashkortostan (62/471 = 13.2%), 44 of these being found among the 80 tested Bashkirs of the Abzelilovsky District in the Republic of Bashkortostan (55.0%).^[3] Four R-M73 men were also found in a 523-person study of Turkey,^[4] and one person in a 168-person study of Crete.^[23]

In 2010, Myres et al. report that out of 193 R-M73 men found amongst 10,355 widespread men, "all except two Russians occurred outside Europe, either in the Caucasus, Turkey, the Circum-Uralic and North Pakistan regions."^[24]

R1b1a2 (R-M269)

R1b1a2 (2011 name) is defined by the presence of SNP marker M269. European R1b is dominated by R-M269. It has been found at generally low frequencies throughout central Eurasia,^[21] but with relatively high frequency among Bashkirs of the Perm Region (84.0%).^[3] This marker is also present in China and India at frequencies of less than one percent. The table below lists in more detail the frequencies of M269 in various regions in Asia, Europe, and Africa.

The frequency is about 70% in Spain and 60% in France.^[25] In south-eastern England the frequency of this clade is about 70%;^[25] in parts of the rest of north and western England, Spain, Portugal, Wales and Ireland, it is as high as 90%; and in parts of north-western Ireland it reaches 98%. It is also found in North Africa, where its frequency surpasses 10% in some parts of Algeria.^[26] It has been reported in newspapers that King Tut is a member of the haplogroup R1b1a2, but it is found in less than 1 % of men in most parts of Egypt today.^[25]

From 2003 to 2005 what is now R1b1a2 was designated R1b3. From 2005 to 2008 it was R1b1c. From 2008 to 2011 it was R1b1b2.

M269	still un-defined R-M269* (R1b1a2*) L23 still un-defined R-L23* (R1b1a2a*) L150 still un-defined R-L150* (R1ba2a1*) L51/M412 still un-defined R-L51*/R-M412* (R1b1a2a1a*) P310/L11 still un-defined R-P310/L11* (R1b1a2a1a1*) U106 R-U106 (R1b1a2a1a1a) P312 R-P312 (R1b1a2a1a1b) R-L277 (R1b1a1a1b)

As discussed above, in articles published around 2000 it was proposed that this clade been in Europe before the last Ice Age,^[27] but by 2010 more recent periods such as the European Neolithic have become the focus of proposals. A range of newer estimates for R1b1b2, or at least its dominant parts in Europe, are from 4,000 to a maximum of about 10,000 years ago, and looking in more detail is seen as suggesting a migration from Western Asia via southeastern Europe.^{[2][7][12][14]} Western European R1b is dominated by R-P310.^[2]

It was also in this period between 2000 and 2010 that it became clear that especially Western European R1b is dominated by specific sub-clades of R-M269 (with some small amounts of other types found in areas such as Sardinia^[7][10]). Within Europe, R-M269 is dominated by R-M412, also known as R-L51, which according to Myres et al. (2010) is "virtually absent in the Near East, the Caucasus and West Asia." This Western European population is further divided between R-P312/S116 and R-U106/S21, which appear to spread from the western and eastern Rhine river basin respectively. Myres et al. note further that concerning its closest relatives, in R-L23*, that it is "instructive" that these are often more than 10% of the population in the Caucasus, Turkey, and some southeast European and circum-Uralic populations. In Western Europe it is also present but in generally much lower levels apart from "an instance of 27% in Switzerland's Upper Rhone Valley."^[7] In addition, the sub-clade distribution map, Figure 1h titled "L11(xU106,S116)", in Myres et al. shows that R-P310/L11* (or as yet undefined subclades of R-P310/L11) occurs only in frequencies greater than 10% in Central England with surrounding areas of England and Wales having lower frequencies.^[7] This R-P310/L11* is almost non-existent in the rest of Eurasia and North Africa with the exception of coastal lands fringing the western and southern Baltic (reaching 10% in Eastern Denmark and 6% in northern Poland)and in Eastern Switzerland and surrounds.^[7]

In 2009, DNA extracted from the femur bones of 6 skeletons in an early-medieval burial place in Ergolding (Bavaria, Germany) dated to around 670 AD yielded the following results: 4 were found to be haplogroup R1b with the closest matches in modern populations of Germany, Ireland and the USA while 2 were in Haplogroup G2a.^[28]

Population studies which test for M269 have become more common in recent years, while in earlier studies men in this haplogroup are only visible in the data by extrapolation of what is likely. The following gives a summary of most of the studies which specifically tested for M269, showing its distribution in Europe, North Africa, the Middle East and Central Asia as far as China and Nepal.

Country	Sampling	sample	R-M269	Source
Wales	National	65	92.3%	Balaresque et al. (2009)[9]
Spain	Basques	116	87.1%	Balaresque et al. (2009)[9]
Ireland	National	796	85.4%	Moore et al. (2006)[29]
Spain	Catalonia	80	81.3%	Balaresque et al. (2009)[9]
France	Ile et Vilaine	82	80.5%	Balaresque et al. (2009)[9]
France	Haute-Garonne	57	78.9%	Balaresque et al. (2009)[9]
England	Cornwall	64	78.1%	Balaresque et al. (2009)[9]
France	Loire-Atlantique	48	77.1%	Balaresque et al. (2009)[9]
France	Finistère	75	76.0%	Balaresque et al. (2009)[9]
France	Basques	61	75.4%	Balaresque et al. (2009)[9]
Spain	East Andalucia	95	72.0%	Balaresque et al. (2009)[9]
Spain	Castilla La Mancha	63	72.0%	Balaresque et al. (2009)[9]
France	Vendée	50	68.0%	Balaresque et al. (2009)[9]
France	Baie de Somme	43	62.8%	Balaresque et al. (2009)[9]
England	Leicestershire	43	62.0%	Balaresque et al. (2009)[9]
Italy	North-East (Ladin)	79	60.8%	Balaresque et al. (2009)[9]
Spain	Galicia	88	58.0%	Balaresque et al. (2009)[9]
Spain	West Andalucia	72	55.0%	Balaresque et al. (2009)[9]
Portugal	South	78	46.2%	Balaresque et al. (2009)[9]
Italy	North-West	99	45.0%	Balaresque et al. (2009)[9]
Denmark	National	56	42.9%	Balaresque et al. (2009)[9]
Netherlands	National	84	42.0%	Balaresque et al. (2009)[9]
Italy	North East	67	41.8%	Battaglia et al. (2008)[30]
Russia	Bashkirs	471	34.40%	Lobov (2009)[3]
Germany	Bavaria	80	32.3%	Balaresque et al. (2009)[9]
Italy	West Sicily	122	30.3%	Di Gaetano et al. (2009)[31]
Slovenia	National	75	21.3%	Battaglia et al. (2008)[30]
Slovenia	National	70	20.6%	Balaresque et al. (2009)[9]
Turkey	Central	152	19.1%	Cinnioğlu et al. (2004)[4]
Republic of Macedonia	Albanians	64	18.8%	Battaglia et al. (2008)[30]
Italy	East Sicily	114	18.4%	Di Gaetano et al. (2009)[31]
Crete	National	193	17.0%	King et al. (2008)[32]
Italy	Sardinia	930	17.0%	Contu et al. (2008)[33]
Iran	North	33	15.2%	Regueiro et al. (2006)[34]
Moldova		268	14.6%	Varzari (2006)[20]
Greece	National	171	13.5%	King et al. (2008)[32]
Turkey	West	163	13.5%	Cinnioğlu et al. (2004)[4]
Romania	National	54	13.0%	Varzari (2006)[20]
Turkey	East	208	12.0%	Cinnioğlu et al. (2004)[4]
Algeria	Northwest (Oran area)	102	11.8%	Robino et al. (2008)[35]
Russia	Roslavl	107	11.2%	Balanovsky et al. (2008)[36]
Iraq	National	139	10.8%	Al-Zahery et al. (2003)[37]
Nepal	Newar	66	10.60%	Gayden et al. (2007)[38]
Serbia	National	100	10.0%	Belaresque et al. (2009)[9]
Tunisia	Tunis	139	7.2%	Adams et al. (2008)[39]
Algeria	Algiers, Tizi Ouzou	46	6.5%	Adams et al. (2008)[39]
Bosnia-Herzegovina	Serb	81	6.2%	Marjanovic et al. (2005)[40]
Iran	South	117	6.0%	Regueiro et al. (2006)[34]
Russia	Repievka	96	5.2%	Balanovsky et al. (2008)[36]
UAE		164	3.7%	Cadenas et al. (2007)[41]
Bosnia-Herzegovina	Bosniak	85	3.5%	Marjanovic et al. (2005)[40]
Pakistan		176	2.8%	Sengupta et al. (2006)[22]
Russia	Belgorod	143	2.8%	Balanovsky et al. (2008)[36]
Russia	Ostrov	75	2.7%	Balanovsky et al. (2008)[36]
Russia	Pristen	45	2.2%	Balanovsky et al. (2008)[36]
Bosnia-Herzegovina	Croat	90	2.2%	Marjanovic et al. (2005)[40]
Qatar		72	1.4%	Cadenas et al. (2007)[41]
China		128	0.8%	Sengupta et al. (2006)[22]
India	various	728	0.5%	Sengupta et al. (2006)[22]
Croatia	Osijek	29	0.0%	Battaglia et al. (2008)[30]
Yemen		62	0.0%	Cadenas et al. (2007)[41]
Tibet		156	0.0%	Gayden et al. (2007)[38]
Nepal	Tamang	45	0.0%	Gayden et al. (2007)[38]
Nepal	Kathmandu	77	0.0%	Gayden et al. (2007)[38]
Japan		23	0.0%	Sengupta et al. (2006)[22]

R1b1a2a1a1a (R-U106)

This subclade is defined by the presence of the marker U106, also known as S21 and M405.^[2][42] It appears to represent over 25% of R1b in Europe.^[2]

U106/S21	still un-defined R-U106* (R1b1b2a1a1a*) U198 R-M467/S29/U198 (R1b1b2a1a1a1) DYS439(null)/L1/S26 R-L1/S26 (R1b1b2a1a1a3) L48 R-L48* (R1b1b2a1a1a4*) L47 R-L47* (R1b1b2a1a1a4a*) L44 R-L44* (R1b1b2a1a1a4a1*) R-L45 and L46 and L146 (R1b1b2a1a1a4a1a1) L148 R-L148 (R1b1a2a1a1a4b) L257 R-L257 (R1b1a2a1a1a8)

While this sub-clade of R1b is frequently discussed amongst genetic genealogists, the following table represents the peer-reviewed findings published so far in the 2007 articles of Myres et al. and Sims et al.^[24][42]

Population	Sample size	R-M269	R-U106 (without U198)	R-U198
Austria	22	27.30%	22.70%	0.00%
Central/South America	33	0.00%	0.00%	0.00%
Czech Republic	36	27.80%	13.90%	0.00%
Denmark	113	34.50%	16.80%	0.09%
Eastern Europe	44	4.50%	0.00%	0.00%
England	138	57.20%	20.30%	0.14%
France	56	51.80%	7.10%	0.00%
Germany	332	43.10%	18.70%	0.18%
Ireland	102	80.40%	5.90%	0.00%
Italy	284	37.30%	3.50%	0.00%
Jordan	76	0.00%	0.00%	0.00%
Middle-East	43	0.00%	0.00%	0.00%
Netherlands	94	54.30%	35.10%	0.21%
Oceania	43	0.00%	0.00%	0.00%
Oman	29	0.00%	0.00%	0.00%
Pakistan	177	3.40%	0.00%	0.00%
Palestine	47	0.00%	0.00%	0.00%
Poland	110	22.70%	8.20%	0.00%
Russia	56	21.40%	5.40%	0.18%
Slovenia	105	17.10%	3.80%	0.00%
Spain	164	42.30%	7.70%	0.00%
Switzerland	90	57.80%	13.30%	0.00%
Turkey	523	14.50%	0.40%	0.00%
Ukraine	32	25.00%	9.40%	0.00%
United States	58	5.20%	5.20%	0.00%
US (European)	125	46.40%	14.40%	0.80%
US (Afroamerican)	118	14.30%	1.70%	0.80%

R1b1a2a1a1b (R-P312)

Along with R-U106, R-P312 is one of the most common types of R1b1a2 (R-M269) in Europe. It has been the subject of significant study concerning its sub-clades, and some of the ones recognized by the ISOGG website are summarized in the following table.^[2] Myres et al. described it distributing from the west of the Rhine basin.^[7]

P312

still un-defined R-P312* (R1b1a2a1a1b*) M65 R-M65 (R1b1a2a1a1b1) Z196 still un-defined R-Z196* (R1b1a2a1a1b2*) R-M153 (R1b1a2a1a1b2a) L176.2/S179.2 R-M167/SRY2627 (R1b1a2a1a1b2b1) R-L165/S68 (R1b1a2a1a1b2b2) U152/S28 still un-defined R-U152* (R1b1a2a1a1b3*) L2/S139 R-L2* (R1b1a2a1a1b3c*) R-L20 (R1b1a2a1a1b3c1) L21/S145/M529 still un-defined R-L21* (or R-M529*) (R1b1a2a1a1b4*) R-M37 (R1b1a2a1a1b4a) R-M222 (R1b1a2a1a1b4b) still un-defined R-DF1/L513/S215* (R1b1a2a1a1b4c*) R-P66 (R1b1a2a1a1b4c1) R-L193/S176 (R1b1a2a1a1b4c2) R-L96 (R1b1a2a1a1b4d) R-L144/S175 (R1b1a2a1a1b4e) R-L159.2/S169.2 (R1b1a2a1a1b4f) R-L226/S168 (R1b1a2a1a1b4g) still un-defined R-DF21/S192* (R1b1a2a1a1b4h*) R-P314.2 (R1b1a2a1a1b4h1) R-Z246 (R1b1a2a1a1b4h2) R-L720 (R1b1a2a1a1b4h3) R-L371 (R1b1a2a1a1b4i) R-L554 (R1b1a2a1a1b4j) R-L238/S182 (R1b1a2a1a1b5) R-DF19 (R1b1a2a1a1b6)

Amongst these, scientific publications have given interpretation and comment on several:-

R1b1a2a1a1b2 (R-Z196) unites several branches of R-P312:-

• R1b1a2a1a1b2a (R-M153)is defined by the presence of the marker M153. It has been found mostly in Basques and Gascons, among whom it represents a sizeable fraction of the Y-DNA pool,^[39][43] though is also found occasionally among Iberians in general. The first time it was located (Bosch 2001^[44]) it was described as H102 and included 7 Basques and one Andalusian.
• R1b1a2a1a1b5 (R-L176.2) This subclade is defined by the presence of the marker L176.2. It contains the following:

• R1b1a2a1a1b5a (R-SRY2627).

This subclade is defined by the presence of the marker M167, also known as SRY2627. The first author to test for this marker (long before current haplogroup nomenclature existed) was Hurles in 1999, who tested 1158 men in various populations.^[45] He found it relatively common among Basques (13/117: 11%) and Catalans (7/32: 22%). Other occurrences were found among other French, British, Spaniards, Béarnais, and Germans.

In 2000 Rosser et al., in a study which tested 3616 men in various populations^[46] also tested for that same marker, naming the haplogroup Hg22, and again it was found mainly among Basques (19%), in lower frequencies among French (5%), Bavarians (3%), Spaniards (2%), Spanish (2%), Southern Portuguese (2%), and in single occurrences among Romanians, Slovenians, Dutch, Belgians and English.

In 2001 Bosch described this marker as H103, in 5 Basques and 5 Catalans.^[44] Further regional studies have located it in significant amounts in Asturias, Cantabria and Galicia, as well as again among Basques.^[44] Cases in the Azores have also been reported. In 2008 two research papers by López-Parra^[43] and Adams,^[39] respectively, confirmed a strong association with all or most of the Pyrenees and Eastern Iberia.

In a larger study of Portugal in 2006, with 657 men tested, Beleza et al. confirmed similar low levels in all the major regions, from 1.5%-3.5%.^[47]

• R1b1a2a1a1b5b (R-L165). This subclade is defined by the presence of the marker S68, also known as L165. As can be seen from the family tree above, it is closely related to R-M167.

R1b1a2a1a1b3 (R-U152) is defined by the presence of the marker U152, also called S28.^[2] Its discovery was announced in 2005 by EthnoAncestry^[48] and subsequently identified independently by Sims et al. (2007).^[42] Out of a sample of 135 men in Tyrol, Austria, 45 men tested positive for M343 (R1b). Of these 45, 25 tested positive for U106/S21, and 9 for U152/S28. 8 Men could not be further identified in the study. One man testing positive for U106 also tested positive for U198.^[49] Myres et al. report this clade "is most frequent (20-44%) in Switzerland, Italy, France and Western Poland, with additional instances exceeeding 15% in some regions of England and Germany."^[24] Cruciani et al., also in 2010, reported frequency peaks in Northern Italy and France.^[7] Far removed from this apparent core area, Myres et al. also mention a sub-population in north Bashkortostan where 71% of 70 men tested were in R-U152. They propose this to be the result of an isolated "founder effect."

R1b1a2a1a1b4 (R-L21) is defined by the presence of the marker L21, also referred to as M529 and S145.^[2] Myres et al. report it is most common in England and Ireland (25-50% of the whole male population).^[7] Known sub-clades include the following:-

• R1b1a2a1a1b4b (R-M222). This subclade within R-L21 is defined by the presence of the marker M222. It is particularly associated with male lines which are Irish or Scottish, but especially northern Irish. In this case, the relatively high frequency of this specific subclade among the population of certain counties in northwestern Ireland may be due to positive social selection, as it is suggested to have been the Y-chromosome haplogroup of the Uí Néill dynastic kindred of ancient Ireland.^[29] However it is not restricted to the Uí Néill as it is also associated with the closely related Connachta dynasties, the Uí Briúin and Uí Fiachrach.^[50] M222 is also found as a substantial proportion of the population of Scotland which may indicate substantial settlement from northern Ireland or at least links to it.^[29][51] Those areas settled by large numbers of Irish and Scottish emigrants such as North America have a substantial percentage of M222.^[29]
• R1b1a2a1a1b4f (R-L159.2). This subclade within R-L21 is defined by the presence of the marker L159 and is known as L159.2 because of a parallel mutation that also exists inside haplogroup I2a1 (L159.1). L159.2 appears to be associated with the Kings of Leinster and Diarmait Mac Murchada. It can also be found in the coastal areas of the Irish Sea including the Isle of Man and the Hebrides, as well as Norway, western and southern Scotland, northern and southern England, northeast France, and northern Denmark.^[52]
• R1b1a2a1a1b4g (R-L193). This subclade within R-L21 is defined by the presence of the marker L193. Many surnames with this marker are associated geographically with the western "Border Region" of Scotland. A few other surnames have a Highland association. R-L193 is a relatively young subclade likely born within the last 2000 years.
• R1b1a2a1a1b4h (R-L226). This subclade within R-L21 is defined by the presence of the marker L226, also known as S168. Commonly referred to as Irish Type III, it is concentrated in central western Ireland and associated with the Dál gCais kindred.^[53]

R1b1b (R-M335)

R1b1b is defined by the presence of SNP marker M335. This haplogroup was created by the 2008 reorganisation of nomenclature and should not be confused with R1b1b2, which was previously called R1b1c. Its position in relation to the much more populous sub-clade R1b1b is uncertain.^[1] The M335 marker was first published in 2004, when one example was discovered in Turkey, which was classified at that time as R1b4.^[4]

R1b1c (R-V88)

R1b1c (formerly R1b1a) is defined by the presence of SNP marker V88, the discovery of which was announced in 2010 by Cruciani et al.^[19] Apart from individuals in southern Europe and Western Asia, the majority of R-V88 was found in northern and central Africa:

Region	Population	Country	Language	N	Total%	R1b1c (R-V88)	R1b1a2 (R-M269)	R1b1c* (R-V88*)	R1b1a4 (R-V69)
N Africa	Composite	Morocco	AA	338	0.0%	0.3%	0.6%	0.3%	0.0%
N Africa	Mozabite Berbers	Algeria	AA/Berber	67	3.0%	3.0%	0.0%	3.0%	0.0%
N Africa	Northern Egyptians	Egypt	AA/Semitic	49	6.1%	4.1%	2.0%	4.1%	0.0%
N Africa	Berbers from Siwa	Egypt	AA/Berber	93	28.0%	26.9%	1.1%	23.7%	3.2%
N Africa	Baharia	Egypt	AA/Semitic	41	7.3%	4.9%	2.4%	0.0%	4.9%
N Africa	Gurna Oasis	Egypt	AA/Semitic	34	0.0%	0.0%	0.0%	0.0%	0.0%
N Africa	Southern Egyptians	Egypt	AA/Semitic	69	5.8%	5.8%	0.0%	2.9%	2.9%
C Africa	Songhai	Niger	NS/Songhai	10	0.0%	0.0%	0.0%	0.0%	0.0%
C Africa	Fulbe	Niger	NC/Atlantic	7	14.3%	14.3%	0.0%	14.3%	0.0%
C Africa	Tuareg	Niger	AA/Berber	22	4.5%	4.5%	0.0%	4.5%	0.0%
C Africa	Ngambai	Chad	NS/Sudanic	11	9.1%	9.1%	0.0%	9.1%	0.0%
C Africa	Hausa	Nigeria (North)	AA/Chadic	10	20.0%	20.0%	0.0%	20.0%	0.0%
C Africa	Fulbe	Nigeria (North)	NC/Atlantic	32	0.0%	0.0%	0.0%	0.0%	0.0%
C Africa	Yorubad	Nigeria (South)	NC/Defoid	21	4.8%	4.8%	0.0%	4.8%	0.0%
C Africa	Ouldeme	Cameroon (Nth)	AA/Chadic	22	95.5%	95.5%	0.0%	95.5%	0.0%
C Africa	Mada	Cameroon (Nth)	AA/Chadic	17	82.4%	82.4%	0.0%	76.5%	5.9%
C Africa	Mafa	Cameroon (Nth)	AA/Chadic	8	87.5%	87.5%	0.0%	25.0%	62.5%
C Africa	Guiziga	Cameroon (Nth)	AA/Chadic	9	77.8%	77.8%	0.0%	22.2%	55.6%
C Africa	Daba	Cameroon (Nth)	AA/Chadic	19	42.1%	42.1%	0.0%	36.8%	5.3%
C Africa	Guidar	Cameroon (Nth)	AA/Chadic	9	66.7%	66.7%	0.0%	22.2%	44.4%
C Africa	Massa	Cameroon (Nth)	AA/Chadic	7	28.6%	28.6%	0.0%	14.3%	14.3%
C Africa	Other Chadic	Cameroon (Nth)	AA/Chadic	4	75.0%	75.0%	0.0%	25.0%	50.0%
C Africa	Shuwa Arabs	Cameroon (Nth)	AA/Semitic	5	40.0%	40.0%	0.0%	40.0%	0.0%
C Africa	Kanuri	Cameroon (Nth)	NS/Saharan	7	14.3%	14.3%	0.0%	14.3%	0.0%
C Africa	Foulbe	Cameroon (Nth)	NC/Atlantic	18	11.1%	11.1%	0.0%	5.6%	5.6%
C Africa	Moundang	Cameroon (Nth)	NC/Adamawa	21	66.7%	66.7%	0.0%	14.3%	52.4%
C Africa	Fali	Cameroon (Nth)	NC/Adamawa	48	20.8%	20.8%	0.0%	10.4%	10.4%
C Africa	Tali	Cameroon (Nth)	NC/Adamawa	22	9.1%	9.1%	0.0%	4.5%	4.5%
C Africa	Mboum	Cameroon (Nth)	NC/Adamawa	9	0.0%	0.0%	0.0%	0.0%	0.0%
C Africa	Composite	Cameroon (Sth)	NC/Bantu	90	0.0%	1.1%	0.0%	1.1%	0.0%
C Africa	Biaka Pygmies	CAR	NC/Bantu	33	0.0%	0.0%	0.0%	0.0%	0.0%
W Africa		Composite	—	123	0.0%	0.0%	0.0%	0.0%	0.0%
E Africa		Composite	—	442	0.0%	0.0%	0.0%	0.0%	0.0%
S Africa		Composite	—	105	0.0%	0.0%	0.0%	0.0%	0.0%
			TOTAL	1822

M343	still un-defined R-M343* (R1b*) P25 still un-defined R-P25* (R1b1*) V88 still un-defined R-V88* (R1b1c*) M18 R-M18 (R1b1c1) V8 R-V8 (R1b1c2) V35 R-V35 (R1b1c3) V69 R-V69 (R1b1c4) R-P297 (R1b1a)

As can be seen in the above data table, R1b1c is found in northern Cameroon in west central Africa at a very high frequency, where it is considered to be caused by a pre-Islamic movement of people from Eurasia.^[17][54]

Suggestive results from other studies which did not test for the full range of new markers discovered by Cruciani et al. have also been reported, which might be in R-V88.

• Wood et al. reported high frequencies of men who were P25 positive and M269 negative, amongst the same north Cameroon area where Cruciani et al. reported high R-V88 levels. However they also found such cases amongst 3% (1/32) of Fante from Ghana, 9% (1/11) of Bassa from southern Cameroon, 4% (1/24) of Herero from Namibia, 5% (1/22) of Ambo from Namibia, 4% (4/92) of Egyptians, and 4% (1/28) of Tunisians.^[17]
• Luis et al. found the following cases of men M173 positive (R1), but negative for M73 (R1b1b1), M269 (R1b1b2), M18 (R1b1a1, a clade with V88, M18 having been discovered before V88) and M17 (R1a1a): 1 of 121 Omanis, 3 of 147 Egyptians, 2 of 14 Bantu from southern Cameroon, and 1 of 69 Hutu from Rwanda.^[55]
• Pereira et al. (2010) in a study of several Saharan Tuareg populations, found one third of 31 men tested from near Tanut in Niger to be in R1b.^[56]

R1b1c1 (R-M18)

R1b1c1 is a sub-clade of R-V88 which is defined by the presence of SNP marker M18.^[1] It has been found only at low frequencies in samples from Sardinia^[21][57] and Lebanon.^[58]

Historical note

The DNA tests that assisted in the identification of Czar Nicholas II of Russia found that he had haplogroup R1b.^[59]

Popular culture

Bryan Sykes, in his book Blood of the Isles, gives the populations associated with R1b the name of Oisín for a clan patriarch, much as he did for mitochondrial haplogroups in The Seven Daughters of Eve.

Stephen Oppenheimer also deals with this haplogroup in his book Origins of the British, giving the R1b clan patriarch the Basque name "Ruisko" in honour of what he thinks is the Iberian origin of R1b.

See also

• Human Y-chromosome DNA haplogroup
• Atlantic Modal Haplotype
• Genealogical DNA test
• Prehistoric Europe
• Y-DNA haplogroups in European populations

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups

most recent common Y-ancestor

A

A1b

A1a-T

A1a

A2-T

A2

A3

BT

B

CT

DE

CF

D

E

C

F

G

H

IJK

IJ

K

I

J

LT

K(xLT)

L

T

M

NO

P

S

O

N

Q

R

Y-DNA by populations · Famous Y-DNA haplotypes

References

External links

• International Society of Genetic Genealogy (ISOGG) - Y-DNA Haplogroup R and its Subclades - 2009
• EthnoAncestry R1b info/ Map of S21 and S29 frequencies as determined by EthnoAncestry's research arm
• Spread of R1b, from the Genographic Project, National Geographic
• R1b1b2 Subclade Maps: M167, M222, S21, S28
• World Haplogroup Maps Note especially the dominance of R1b in Western Europe.
• General SNP Marker Page DNA Heritage
• John McEwan's Y Chromosome DNA Genealogy Page
• David Faux - Shetland Isles Haplogroup R1b
• Dennis Wright - Irish Type III Homepage

Maps

• Haplogroup R1b distribution map
• EthnoAncestry's Map of R1b with S21, S29 Subclades

Projects

• R1* Haplogroup Project
• R-ht35 DNA Project
• FTDNA Kerchner's R1b and Subclades YDNA Haplogroup Project
• R-P312 and Subclades Project
• R1b1b1 Haplogroup Project
• R1b1b2* Haplogroup Project
• R1b-U106/S21+ aka R1b1b2a1a Haplogroup Project
• R1b1b2a1b4 aka R1b(U152+) Project
• R1b1b2a1b5 aka R1b1b2a1a2f aka L21+ Project
• R1b1b2a1b5 aka R1b1b2a1a2f aka L21+ "Walk the Y" Project
• R1b1a2a1a1b4f R-L159 Project
• R1b-U198/S29+ Project
• R-M222 Haplogroup Project
• R-L226 "Irish Type III" Project
• R1b1* DNA Project
• null439 project
• British Isles DNA Project
• Wales Cymru DNA Project
• Danish Demes Regional DNA Project: Haplogroup R1b
• Jewish DNA Project
• FTDNA The Jewish R1b Project
• French Heritage DNA Project
• Iberian Peninsula DNA Project
• Normandy Y-DNA Project
• Scandinavia Y-DNA Project
• Norway DNA Project
• Benelux DNA Project
• Bretagne DNA Project
• Assyrian Heritage DNA Project
• Greek DNA Project
• Turkey DNA Project
• Czech DNA Project
• Switzerland DNA Project
• Polish Family Tree DNA Project
• Russia DNA Project
• Slovakia DNA Project
• Hungarian Magyar Project
• North Italy DNA Project
• Italy DNA Project
• Sicily DNA Project
• Iraq DNA project