Resolving the Placement of Haplogroup I-M223 in the Y-Chromosome
Phylogenetic Tree
T. Whit Athey and Kenneth Nordtvedt
Evidence from four case studies is presented demonstrating
that Y Haplogroup I-M223 should properly be considered a subgroup of Haplogroup
I1, rather than as a separate Haplogroup I2 as recently proposed. Haplogroup I-M223 had not been discovered when
the 2002 Y phylogenetic tree was published by the Y-Chromosome Consortium (YCC). The first study of Haplogroup I-M223 designated
it as a subgroup of I1 and named it I1c.
A later proposed revision of the Y phylogenetic tree, however, showed
I1a and I1b as P38+ and I1c with P38-, which required Haplogroup I-M223 to be
renamed as Haplogroup I2. The present
study presents four cases in which M223+ men were shown to be also P38+, which
reunites Haplogroup I-M223 with I1a and I1b within Haplogroup I1.
Received: November 7, 2005, accepted November
29, 2005
Address
for correspondence: wathey@hprg.com
Introduction
Y-chromosome Haplogroup I includes
about a quarter of all northwest European men.
Its largest subgroup, I1a, is common in Scandinavia and Germany and occurs in Britain at a frequency of about 15%. Haplogroup I1b is common in the Balkans and
parts of Eastern Europe. The third
major subgroup of Haplogroup I is defined by the single nucleotide polymorphism
(SNP) M223, as reported by Rootsi et al (2004).
Rootsi placed I-M223 as a subgroup of I1, parallel to I1a and I1b, and
named it Haplogroup I1c (see Figure 1).
Figure
1 Phylogenetic Chart for Haplogroup I according to
Rootsi et al. (2004) (simplified for clarity).
The SNP M223 had not been
discovered in 2002 when the Y-Chromosome Consortium (YCC) issued the latest
official version of the Y phylogenetic tree.
Family Tree DNA (FTDNA) in late 2004 published a revision of the
YCC-2002 structure. In this new tree,
Haplogroup I-M223 was apparently assumed to be P38- and, as such, it was
renamed as Haplogroup I2, as shown in Figure 2.
Figure
2 Haplogroup I According to FTDNA’s Proposed Revision
of the Y Phylogenetic Tree (simplified for clarity).
The current study presents
the results of testing of SNPs in four men who were known or suspected to be
members of I-M223. In all cases, they
were found to be both M223+ and P38+, demonstrating that the phylogenetic
structure of Haplogroup I as presented in Rootsi et al (2004) (see Figure 1)
is correct.
Methods
|
Table 1 – Y-STR Values* for All
Subjects
|
ID
|
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
|
1
|
3
9
2
|
3
8
9
|
2
|
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
4
e
|
4
6
4
f
|
4
6
0
|
G
A
T
A
H
4
|
Y
C
A
I
I
a
|
Y
C
A
I
I
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
|
|
101
|
15
|
24
|
15
|
10
|
15
|
15
|
11
|
13
|
13
|
14
|
12
|
31
|
15
|
8
|
10
|
11
|
11
|
25
|
14
|
21
|
27
|
11
|
14
|
14
|
15
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
102
|
14
|
22
|
15
|
10
|
15
|
15
|
11
|
13
|
11
|
13
|
12
|
29
|
15
|
8
|
10
|
11
|
11
|
25
|
15
|
20
|
28
|
11
|
14
|
15
|
15
|
|
|
12
|
10
|
19
|
19
|
17
|
16
|
16
|
20
|
34
|
36
|
12
|
11
|
|
103
|
14
|
23
|
15
|
10
|
14
|
15
|
11
|
13
|
11
|
14
|
12
|
32
|
14
|
8
|
10
|
11
|
11
|
25
|
14
|
19
|
27
|
11
|
14
|
15
|
15
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
104
|
14
|
| |