The Northwest Irish Variety of Y-DNA Haplogroup R

A Distinct Y-DNA Variety Clustered in NW Ireland and Parts of Scotland
Is Associated with SNP M222 and Constitutes Haplogroup R1b1c7

(Original Title: Evidence for a Distinct R1b Variety Clustered in Ireland and Scotland)

 

 

 


UPDATE TWO: [10 Mar 2006]  A Single Nucleotide Polymorphism (SNP) test reported on March 4, 2006, confirmed that a member of this group manifests the derived (or positive) state at the M222 locus on the human Y-chromosome. The well known NW Irish pattern is thus not simply a statistically defined subset of Haplogroup R1b1c (also known as R-M269 after the SNP which defines that clade). NW Irish can in fact be assigned to its own subclade of R1b1c called R1b1c7, or R-M222. Additional testing of M222 in other individuals will reveal whether the NW Irish cluster constitutes the totality of R1b1c7 or whether other haplotypes that stray far from the R1b1c7 modal values also belong to this cluster. The results have the potential to better illuminate population movements into and within the European peninsula that would become the British Isles once the sea level rose.

Scroll to the bottom of this page for a comparison of the modal values for undifferentiated R1b1c and its subset, R1b1c7.

In light of developments in the past several weeks, this page will be redesigned and reconstructed in coming weeks to better integrate the information now available for this interesting subgroup

UPDATE ONE: [24 Jan 2006]  In December 2005, first results were published from an extended study of Irish surnames and Y-chromosome haplotypes undertaken by a research team from Trinity College Dublin. An article by members of the team (Moore, L., McEvoy, B. et al., "A Y-Chromosome Signature of Hegemony in Gaelic Ireland." Am. J. Hum. Genet 2006 Feb;78(2):334-8) discusses the variety of haplogroup R1b (more precisely, R1b1c or R-M269) that was independently recognized and described here in late 2004. Moore and McEvoy named this pattern the Irish Modal Haplotype (IMH). Of the distinctive markers described below, the individual haplotypes in the TCD study set contained only DYS390 and DYS392. Those two markers are sufficient to show that the IMH and this variety are in fact identical.

Based on correlations with modern surnames, clan origins, and geographical concentration, Moore and McEvoy propose that this haplotype should be associated with descendants of the Ui Neill kings of medieval Ireland, and specifically descendants of the semi-legendary fifth-century king Niall of the Nine Hostages. The reproductive advantage conferred by political and military leadership is considered to have fostered the expansion of this pattern, which is found in up to one fifth of tested males in portions of NW Ireland today. The concentration is strongest in Sligo and northernmost Donegal. The pattern is scarce in Southern Ireland. Descent from Niall is quite possible and even likely for much of the Irish population in whom this pattern is found, but it is not necessarily the case that all who manifest this variety are direct descendants of Niall.

The descriptor "Irish Modal Haplotype" is perhaps a misnomer, as the pattern is not in fact modal for Ireland; even where it is most concentrated, the haplotype and its close variants do not constitute the dominant pattern among the R1b population. But the pattern is real and constitutes a significant minor percentage of the Irish population, which is predominantly R-M269. Recognizing the geographic distribution noted by Moore and McEvoy, I have adopted the name "Northwest Irish Variety" for this cluster.

Single nucleotide polymorphism (SNP) tests of individuals who belong to this group confirm that it lies within Haplogroup R1b1c* -- R1b for short, though the truncated clade name obscures some important distinctions between minor branches of the Y-chromosome haplogroup tree. Tested individuals from the NW Irish variety show the derived (positive) state for SNP M269. These individuals also show the ancestral (negative) state for all easily testable SNPs that identify subclades of M269. (The asterisk in R1b1c* identifies a paragroup consisting of R1b1c excluding all identified subclades.) The broad Irish R1b population, which is also positive for M269 and negative for SNPs that define subclades of that haplogroup, is thought to have entered Ireland from an Iberian refuge beginning some 8,000 to 10,000 years ago following the last glacial maximum. The NW Irish variety appears to have developed in Ireland within the last 3,000 to 5,000 years.  Additional study of DNA distribution in Ireland and other areas will perhaps refine this picture.

The Moore/McEvoy article can be found here. The raw study data can be found here. 

 

 

 

 

(The original material on this web page begins here.)

Relevant Links:

Capelli Study

Capelli Data

 

YHRD

 

S-WAMH Definition

 

Data in Capelli's 2003 study (links above), supplemented by relevant records from the Ysearch data base, constitute evidence of a distinct variety of R1b in the British Isles. This variety can be considered the 25/11/14 variety after the modal values found at DYS 390, 391 and 392. In regular R1b, the modal value for 390 is 24; for 392 it is 13.

In 1601 haplotypes tallied in Capelli's data table, 60 show 25/14 at 390/392. Of these, 47 are of the 25/11/14 variety, and the remaining 13 show 10 at DYS391. These instances are geographically clustered in Ireland and along the west coast of Britain from Wales to the Orkneys. A few are spread out in Southern Scotland. With the exception of two instances in Norfolk, there are no instances of the pattern in England. Capelli also reports a small cluster in Norway (four instances) and a singleton in Germany/Denmark even though these locales are outside his major study area.

A search on the pattern in the YHRD data base (link above) shows the same cluster in the British Isles, with Ireland a recognizable hot spot.

Guided by those indicators, I extracted from Ysearch additional haplotypes that matched this pattern. The primary discriminator was 14 at DYS 392. In addition to that value I filled out the search panel with the following seven markers to restrict hits to R1b: 388=12; 426=12; 459a=9; 459b=10; 455=11; 454=11; and 438=12. From the collected records I then excluded records of duplicate surnames in order not to bias the data. I allowed duplicates to remain in two cases where it was obvious the same-surname individuals stood at some genetic distance from one another. After the cull, 73 records remained. From those records I compiled the data reported in the tables below.

Surnames in the 73-record data set are preponderantly Irish and Scottish.

In short, the following modal differences can be seen in 25/11/14 R1b compared to standard R1b

 

 
  Modal values at 385a,b are 11/13 rather than 11/14 
  Modal value at 448 is 18 rather than 19 
  Modal value at 449 is 30 rather than 29 
  Modal value at 456 is 17 rather than 16 
  Modal value at 607 is 16 rather than 15 
  Modal value at CDYa is solidly 37 rather than 36/37

 

Modal value at CDYb is 39 rather than 38

 

And obviously, since it is part of the definition, the modal value at 390 is 25 rather than 24 

 
The tables below compare the "repeat" distributions of specific Y-chromosome markers for the 25/11/14 variety of R1b to the corresponding percentage for "standard" R1b, or SWAMH in Whit Athey's terminology (link above). Modal values for both 24/11/14 and standard R1b are highlighted in yellow. Unless otherwise noted, the total of evaluated haplotypes for each panel is 73.
 
I did not tabulate data for 388, 426, 459a/b, 455, 454 and 438 because they were used in the initial search as R1b-defining markers. Similarly I did not tabulate data for 393, YCAii a,b because the values do not appear to shift much between standard R1b and the 25/11/14 variety. And finally, I did not tabulate differences at 464 because I just didn't feel like dealing with the complexities of this marker. For the record, two modal shifts were observed in 464 copies -- 15/16/16/17 in this variant, 15/15/17/17 in standard R1b.
 
David Wilson / 2 Dec 2004 (rev 5 Dec 2004) (minor corrections 18 Sep 2005) (Update 1: 24 Jan 2006) (Update 2: 10 Mar 2006)
 

 

  390   391   393        
  Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent        
  22 1 1 1   10 12 16 32   (not tabulated)        
  23 8 3 28   11 60 82 63          
  24 19 26 55   12 1 1 5          
  25 44 60 15          
  26 1 1 1          
         
  385a   385b   448        
  Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent        
  10 1 1 3   11 2 3 2   17 1 1 1        
  11 67 92 90   12 3 4 2   18 49 67 13        
  12 3 4 6   13 43 59 9   19 21 29 81        
  13 2 3 1   14 22 30 69   20 2 3 5        
  15 3 4 16          
         
  449   447   439        
  Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent        
  27 3 4 2   23 0 0 2   11 13 18 15        
  28 3 4 12   24 6 8 19   12 51 70 74        
  29 18 25 39   25 61 84 67   13 9 12 10        
  30 37 51 31   26 6 8 1            
  31 8 11 11          
  32 4 5 4          
         
  458   460   GATA H4        
  Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent        
  14 1 1 0.2   10 4 5 18   10 5 7 18        
  15 1 1 2   11 53 73 74   11 56 77 67        
  16 9 12 18   12 16 22 7   12 7 10 13        
  17 44 60 50       13 2 3 1        
  18 14 19 23   Total: 70          
  19 4 5 5          
         
  456   607   576        
  Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent        
  14 2 3 2   14 3 4 16   16 2 3 6        
  15 11 15 34   15 23 34 66   17 6 9 30        
  16 23 32 42   16 40 59 15   18 39 57 40        
  17 31 44 21   17 2 3 2   19 16 24 19        
  18 3 2 1   Total: 68   20 5 7 4        
  19 1 5 NR   Total: 68          
  Total: 71                
         
  570   CDYa (See Note below)   CDYb        
  Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent   Repeats Count Percent SWAMH Percent        
  16 6 9 14   35 3 4 14   36 2 3 7        
  17 54 79 60   36 15 22 28   37 6 9 25        
  18 8 12 17   37 23 34 32   38 15 22 30        
  Total: 68   38 20 29 15   39 28 41 18        
    39 7 10 2   40 15 22 15        
    Total: 68   41 2 3 3        
        Total: 68          
  442          
  Repeats Count Percent SWAMH Percent          
  11 7 10 15          
  12 64 88 74          
  13 1 2 10          
  Total: 72          

 

                                     

 
52 Marker Modal Haplotypes:
Undifferentiated (Mainstream) R1b1c and the NW Irish Variety (R1b1c7)

 

DYS number (locus)
----->
--------------
Haplogroup

3
9
3

3
9
0

1
9

3
9
1

3
8
5
a

3
8
5
b

4
2
6

3
8
8

4
3
9

3
8
9
i

3
9
2

3
8
9
ii

4
5
8

4
5
9
a

4
5
9
b

4
5
5

4
5
4

4
4
7

4
3
7

4
4
8

4
4
9

4
6
4
a

4
6
4
b

4
6
4
c

4
6
4
d

4
6
0

G
A
T
A
H
4

Y
C
A
ii
a

Y
C
A
ii
b

4
5
6

6
0
7

5
7
6

5
7
0

C
D
Y
a

C
D
Y
b

4
4
 2 

4
3
8

4
2
5

4
6
 1 

4
6
2

A
1
0

C
4

1
B
O
7

4
4
1

4
4
4

4
4
5

4
4
6

4
5
2

4
6
3

4
3
4

4
3
5

4
3
6

R1b1c

13

24

14

11

11

14

12

12

12

13

13

29

17

 9

10

11

11

25

15

19

29

15

15

17

17

11

11

19

23

16

15

18

17

36

38

12

12

12

12

11

13

23

10

13

12

12

13

11

22

 9

11

12

R1b1c7

13

25

14

11

11

13

12

12

12

13

14

29