S26 (aka
Null DYS439, Little or L1 SNP)
John McEwan
4th Dec 2005 (last updated 30th
April 2006)
The discovery and elucidation of this R1b subclade
SNP is well described (and kept updated) by Leo Little at http://www.familytreedna.com/public/null439/index.aspx Briefly, a
SNP was discovered by Leo Little and FTDNA in the flanking regions of DYS439
based on the observation that a null allele was appearing in this STR
associated with a certain cluster of haplotypes
within R1b. FTDNA now officially identify these null individuals. More recently
based on a SNP tested individual it appears that L1 is a sub-clade of S21 and it is now shown as such on the new ISOGG haplogroup
tree. This work seeks to examine this SNP from the perspective of its
properties, relative to other R1b SNPs.
Data
The file of putative nulls supplied by Leo Little
on the 3rd Dec 2005 was examined and edited to remove close matches
within the same surname, most likely due to sampling within the same recorded
family. Similarly, only those with 37 FTDNA STR marker results were kept.
Before editing there were 32 individuals with 37 FTDNA markers. On this
basis, compared to the phase 3 cluster analysis, this subgroup makes up 32/3996
~ 0.8% of Ysearch with 37 marker results and 32/2553
~1.3% of R1b. This identifies that the subgroup is a minor fraction of R1b.
Results
The edited results were then analyzed in Dean McGee’s site http://www.mymcgee.com/tools/yutility.html
. The modal haplotype and haplotypes
used are listed in table 1 below. Table 2 compares these haplotypes
using the infinite allele model. The major observation is the high level of
diversity observed between the different families. The number of mismatches
ranges from 2-17. This is surprising
given the small observed fraction of R1b that this group represents, which in
turn implicitly suggests a recent and common origin.
Using conservative anthropological parameters of 0.0007
mutations/STR/generation and 28 years for the generation interval inferred a
TMRCA estimate of 7681 yrs bp. While this estimate
has large standard errors, this is very long ago.
In order to identify what relationship L1 individuals and modal have
with the phase 3 R1b cluster analysis the relevant haplotypes
were compared. First the L1 modal haplotype had a
best fit with R1bSTR32 with 4 mismatches, followed by R1bSTR42 with 5
mismatches. The next best was 7 mismatches. Individuals ranged from 5-12
mismatches with R1bSTR32 and 6-13 with R1bSTR42. The latter group R1bSTR42 is mentioned
because other S21+ individuals have been identified within that cluster.
Geographical distribution
Only a limited number of surnames are available that have the L1 SNP.
Most appear to have English origins and those with 37 FTDNA haplotypes
have been graphically tabulated below. With some exceptions there appears to be
a centre of gravity located in central England with both Wales and Scotland
underrepresented.
Discussion
Three points emerge from these results: the diversity of the individuals
relative to the size of the group, the age of the estimated mutation and the
geographical distribution of the individual surnames.
For a comparison the TMRCA estimates for other R1b SNPs
calculated on the same basis are listed below. They show that L1 most likely
occurred after S21 and M167. This is also consistent with it potentially being
a subclade of S21.
R1b SNP yrs bp
S21 9231 (derived from 10 S21 positive individuals)
M167 9048 (derived from average of 3 estimates 9072 yr bp, 8198 yrs bp and 9874 yrs bp)
L1 7681 (derived from 21 semi unrelated individuals)
The current hypothesis is that S21+ is an early mutation within R1b that
was geographically European in localization. In more recent times in Britain it
represents an “invader” origin, specifically in post Roman times it is most
likely associated with Angles, Saxons, Jutes and maybe Normans. S21 has been
geographically associated with the so-called “Frisian” R1b STR cluster. L1
appears to be somewhat different from that STR cluster. However, it shares
characteristics with its distribution within Britain. Its age and diversity
(predating the Anglosaxon invasions) also suggest
that it has originated from a larger population that has yet been unsampled or only poorly sampled from Europe. On a
speculative note it may indicate French or Norman origins as distinct from
Northern European.
Summary
The L1 SNP is likely to be a subclade of the
S21 positive group. It has a different STR profile that the majority of S21
positive individuals identified to date, which belong
to the R1bSTR22Frisian group. However, its distribution in England shows some
similarities to the expected historic spread of Angles and Saxons although
further work is required. Its age is estimated as being after S21 and before
the age of the Roman empire. Its diversity and age
suggest that this grouping may be present on the continent in some as yet unsampled geographical location.
Table 1. List of L1 haplotypes used and modal values. Note by convention
DYS439=12
ID |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
D |
G |
Y |
Y |
D |
D |
D |
D |
C |
C |
D |
D |
|||||
modal |
13 |
24 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
15 |
16 |
16 |
17 |
10 |
11 |
19 |
23 |
16 |
16 |
17 |
17 |
37 |
38 |
12 |
12 |
|||||
Adams |
14 |
23 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
16 |
9 |
10 |
11 |
11 |
25 |
15 |
19 |
32 |
15 |
15 |
15 |
15 |
10 |
11 |
19 |
23 |
16 |
15 |
16 |
17 |
36 |
37 |
12 |
12 |
|||||
Atkins1 |
13 |
24 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
14 |
15 |
16 |
18 |
10 |
11 |
19 |
23 |
15 |
16 |
18 |
16 |
37 |
38 |
12 |
12 |
|||||
Atkins2 |
13 |
24 |
14 |
11 |
12 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
18 |
9 |
10 |
11 |
11 |
25 |
15 |
20 |
29 |
15 |
15 |
16 |
17 |
10 |
12 |
19 |
23 |
16 |
15 |
17 |
17 |
39 |
39 |
12 |
12 |
|||||
Brown |
13 |
24 |
14 |
11 |
12 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
16 |
9 |
10 |
11 |
11 |
25 |
15 |
19 |
29 |
15 |
15 |
15 |
16 |
11 |
11 |
19 |
22 |
15 |
15 |
17 |
17 |
37 |
38 |
12 |
12 |
|||||
Cotton1 |
13 |
24 |
14 |
10 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
20 |
29 |
15 |
16 |
16 |
17 |
10 |
11 |
19 |
23 |
16 |
15 |
18 |
17 |
38 |
38 |
12 |
12 |
|||||
Davison |
13 |
24 |
14 |
12 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
18 |
9 |
10 |
11 |
11 |
26 |
15 |
19 |
30 |
15 |
15 |
17 |
17 |
11 |
11 |
19 |
23 |
17 |
15 |
17 |
17 |
37 |
38 |
12 |
12 |
|||||
Fox1 |
13 |
24 |
14 |
11 |
11 |
15 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
14 |
14 |
16 |
16 |
10 |
11 |
19 |
23 |
16 |
16 |
18 |
17 |
38 |
38 |
13 |
12 |
|||||
Fox3 |
13 |
24 |
14 |
11 |
11 |
15 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
26 |
15 |
19 |
29 |
14 |
16 |
16 |
16 |
10 |
11 |
19 |
23 |
16 |
16 |
19 |
17 |
38 |
39 |
13 |
12 |
|||||
Glass |
13 |
24 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
31 |
16 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
15 |
16 |
16 |
17 |
12 |
11 |
19 |
23 |
15 |
16 |
17 |
16 |
38 |
38 |
12 |
12 |
|||||
Goodwin |
13 |
24 |
14 |
10 |
11 |
15 |
12 |
12 |
12 |
14 |
13 |
30 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
14 |
14 |
16 |
16 |
10 |
11 |
19 |
23 |
15 |
16 |
16 |
16 |
37 |
37 |
12 |
12 |
|||||
Hazelwood1 |
13 |
24 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
16 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
15 |
15 |
16 |
16 |
10 |
11 |
19 |
23 |
16 |
16 |
17 |
17 |
37 |
39 |
12 |
12 |
|||||
Holt3 |
13 |
25 |
14 |
11 |
12 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
16 |
9 |
10 |
11 |
11 |
25 |
15 |
19 |
28 |
15 |
15 |
15 |
16 |
11 |
11 |
19 |
23 |
15 |
15 |
16 |
17 |
37 |
38 |
11 |
12 |
|||||
Holt4 |
13 |
25 |
14 |
11 |
12 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
16 |
9 |
10 |
11 |
11 |
25 |
15 |
19 |
28 |
15 |
15 |
15 |
16 |
11 |
11 |
19 |
22 |
15 |
15 |
17 |
17 |
36 |
39 |
11 |
12 |
|||||
Jardine |
13 |
24 |
14 |
12 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
18 |
9 |
10 |
11 |
11 |
25 |
15 |
19 |
31 |
15 |
15 |
17 |
17 |
11 |
11 |
19 |
23 |
16 |
15 |
17 |
17 |
37 |
38 |
12 |
12 |
|||||
King |
13 |
24 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
24 |
15 |
19 |
29 |
16 |
16 |
16 |
17 |
10 |
11 |
19 |
23 |
17 |
15 |
17 |
17 |
37 |
39 |
12 |
12 |
|||||
Little1 |
13 |
24 |
14 |
10 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
30 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
30 |
15 |
16 |
16 |
17 |
11 |
11 |
19 |
23 |
16 |
16 |
17 |
16 |
37 |
38 |
12 |
12 |
|||||
Little4 |
13 |
24 |
14 |
10 |
11 |
15 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
14 |
16 |
16 |
17 |
10 |
11 |
19 |
23 |
16 |
16 |
17 |
16 |
39 |
39 |
12 |
12 |
|||||
Little5 |
13 |
24 |
14 |
10 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
24 |
15 |
19 |
29 |
16 |
16 |
17 |
17 |
10 |
11 |
19 |
23 |
17 |
16 |
17 |
17 |
36 |
36 |
12 |
12 |
|||||
Smith |
13 |
24 |
14 |
10 |
12 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
18 |
9 |
10 |
11 |
11 |
25 |
15 |
19 |
29 |
15 |
16 |
17 |
18 |
11 |
10 |
19 |
23 |
17 |
16 |
17 |
17 |
36 |
36 |
11 |
12 |
|||||
Vines |
13 |
24 |
14 |
11 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
16 |
9 |
9 |
11 |
11 |
24 |
15 |
19 |
30 |
15 |
16 |
16 |
17 |
10 |
10 |
19 |
23 |
16 |
16 |
17 |
17 |
35 |
37 |
12 |
12 |
|||||
Webb |
13 |
24 |
14 |
10 |
11 |
14 |
12 |
12 |
12 |
13 |
13 |
29 |
17 |
9 |
9 |
11 |
11 |
25 |
15 |
19 |
29 |
15 |
16 |
16 |
17 |
10 |
11 |
19 |
23 |
16 |
16 |
18 |
17 |
38 |
38 |
12 |
12 |
|||||
|
Table 2. Genetic distance using the infinite alleles
model
Genetic Distance |
|||||||||||||||||||||||||||||||||||
ID |
m |
A |
A |
A |
B |
C |
D |
F |
F |
G |
G |
H |
H |
H |
J |
K |
L |
L |
L |
S |
V |
W |
|
||||||||||||
modal |
37 |
12 |
5 |
9 |
9 |
5 |
10 |
6 |
8 |
6 |
9 |
3 |
12 |
14 |
8 |
5 |
5 |
6 |
6 |
11 |
6 |
3 |
|
||||||||||||
Adams |
12 |
37 |
14 |
12 |
11 |
13 |
13 |
15 |
16 |
15 |
16 |
10 |
10 |
11 |
11 |
14 |
16 |
16 |
15 |
16 |
12 |
13 |
|
||||||||||||
Atkins1 |
5 |
14 |
37 |
13 |
10 |
8 |
13 |
7 |
10 |
7 |
7 |
7 |
12 |
15 |
12 |
9 |
8 |
8 |
10 |
13 |
11 |
6 |
|
||||||||||||
Atkins2 |
9 |
12 |
13 |
37 |
9 |
9 |
11 |
14 |
14 |
13 |
17 |
8 |
12 |
11 |
9 |
10 |
14 |
11 |
13 |
10 |
11 |
11 |
|
||||||||||||
Brown |
9 |
11 |
10 |
9 |
37 |
12 |
9 |
14 |
16 |
10 |
15 |
8 |
5 |
5 |
8 |
11 |
12 |
15 |
14 |
11 |
13 |
12 |
|
||||||||||||
Cotton1 |
5 |
13 |
8 |
9 |
12 |
37 |
12 |
7 |
10 |
9 |
11 |
8 |
14 |
16 |
10 |
8 |
8 |
8 |
8 |
13 |
10 |
2 |
|
||||||||||||
Davison |
10 |
13 |
13 |
11 |
9 |
12 |
37 |
16 |
16 |
13 |
17 |
11 |
11 |
13 |
3 |
10 |
10 |
15 |
11 |
11 |
12 |
12 |
|
||||||||||||
Fox1 |
6 |
15 |
7 |
14 |
14 |
7 |
16 |
37 |
4 |
10 |
8 |
8 |
15 |
17 |
14 |
10 |
11 |
7 |
10 |
15 |
11 |
5 |
|
||||||||||||
Fox3 |
8 |
16 |
10 |
14 |
16 |
10 |
16 |
4 |
37 |
12 |
10 |
8 |
17 |
17 |
16 |
8 |
13 |
7 |
10 |
16 |
11 |
8 |
|
||||||||||||
Glass |
6 |
15 |
7 |
13 |
10 |
9 |
13 |
10 |
12 |
37 |
11 |
7 |
13 |
14 |
12 |
10 |
7 |
9 |
10 |
13 |
9 |
7 |
|
||||||||||||
Goodwin |
9 |
16 |
7 |
17 |
15 |
11 |
17 |
8 |
10 |
11 |
37 |
10 |
16 |
19 |
16 |
11 |
10 |
6 |
10 |
16 |
13 |
9 |
|
||||||||||||
Hazelwood1 |
3 |
10 |
7 |
8 |
8 |
8 |
11 |
8 |
8 |
7 |
10 |
37 |
11 |
11 |
9 |
6 |
8 |
7 |
8 |
12 |
6 |
6 |
|
||||||||||||
Holt3 |
12 |
10 |
12 |
12 |
5 |
14 |
11 |
15 |
17 |
13 |
16 |
11 |
37 |
4 |
10 |
14 |
14 |
18 |
17 |
12 |
15 |
14 |
|
||||||||||||
Holt4 |
14 |
11 |
15 |
11 |
5 |
16 |
13 |
17 |
17 |
14 |
19 |
11 |
4 |
37 |
12 |
14 |
16 |
17 |
16 |
11 |
15 |
16 |
|
||||||||||||
Jardine |
8 |
11 |
12 |
9 |
8 |
10 |
3 |
14 |
16 |
12 |
16 |
9 |
10 |
12 |
37 |
11 |
9 |
13 |
12 |
11 |
12 |
10 |
|
||||||||||||
King |
5 |
14 |
9 |
10 |
11 |
8 |
10 |
10 |
8 |
10 |
11 |
6 |
14 |
14 |
11 |
37 |
10 |
8 |
5 |
13 |
8 |
8 |
|
||||||||||||
Little1 |
5 |
16 |
8 |
14 |
12 |
8 |
10 |
11 |
13 |
7 |
10 |
8 |
14 |
16 |
9 |
10 |
37 |
7 |
9 |
12 |
9 |
6 |
|
||||||||||||
Little4 |
6 |
16 |
8 |
11 |
15 |
8 |
15 |
7 |
7 |
9 |
6 |
7 |
18 |
17 |
13 |
8 |
7 |
37 |
7 |
13 |
10 |
6 |
|
||||||||||||
Little5 |
6 |
15 |
10 |
13 |
14 |
8 |
11 |
10 |
10 |
10 |
10 |
8 |
17 |
16 |
12 |
5 |
9 |
7 |
37 |
9 |
8 |
6 |
|
||||||||||||
Smith |
11 |
16 |
13 |
10 |
11 |
13 |
11 |
15 |
16 |
13 |
16 |
12 |
12 |
11 |
11 |
13 |
12 |
13 |
9 |
37 |
12 |
11 |
|
||||||||||||
Vines |
6 |
12 |
11 |
11 |
13 |
10 |
12 |
11 |
11 |
9 |
13 |
6 |
15 |
15 |
12 |
8 |
9 |
10 |
8 |
12 |
37 |
8 |
|
||||||||||||
Webb |
3 |
13 |
6 |
11 |
12 |
2 |
12 |
5 |
8 |
7 |
9 |
6 |
14 |
16 |
10 |
8 |
6 |
6 |
6 |
11 |
8 |
37 |
|
||||||||||||
|
|||||||||||||||||||||||||||||||||||
- Infinite allele mutation model is used |