Advances in Anthropology
2012. Vol.2, No.2, 80-86
Published Online May 2012 in SciRes (http://www.SciRP.org/journal/aa) http://dx.doi.org/10.4236/aa.2012.22009
Copyright © 2012 SciRes.
80
Re-Examining the “Out of Africa” Theory and the Origin of
Europeoids (Caucasoids) in Light of DNA Genealogy
Anatole A. Klyosov*, Igor L. Rozhanskii
The Academy of DNA Genealogy, Newton, USA
Email: *aklyosov@comcast.net
Received January 7th, 2012; revised February 4th, 2012; accepted March 10th, 2012
Seven thousand five hundred fifty-six (7556) haplotypes of 46 subclades in 17 major haplogroups were
considered in terms of their base (ancestral) haplotypes and timespans to their common ancestors, for the
purposes of designing of time-balanced haplogroup tree. It was found that African haplogroup A (origi-
nated 132,000 ± 12,000 years before present) is very remote time-wise from all other haplogroups, which
have a separate common ancestor, named β-haplogroup, and originated 64,000 ± 6000 ybp. It includes a
family of Europeoid (Caucasoid) haplogroups from F through T that originated 58,000 ± 5000 ybp. A
downstream common ancestor for haplogroup A and β-haplogroup, coined the α-haplogroup emerged
160,000 ± 12,000 ybp. A territorial origin of haplogroups α- and β-remains unknown; however, the most
likely origin for each of them is a vast triangle stretched from Central Europe in the west through the
Russian Plain to the east and to Levant to the south. Haplogroup B is descended from β-haplogroup (and
not from haplogroup A, from which it is very distant, and separated by as much as 123,000 years of “lat-
eral” mutational evolution) likely migrated to Africa after 46,000 ybp. The finding that the Europeoid
haplogroups did not descend from “African” haplogroups A or B is supported by the fact that bearers of
the Europeoid haplogroups, as well as all non-African haplogroups do not carry either SNPs M91, P97,
M31, P82, M23, M114, P262, M32, M59, P289, P291, P102, M13, M171, M118 (haplogroup A and its
subclades SNPs) or M60, M181, P90 (haplogroup B), as it was shown recently in “Walk through Y”
FTDNA Project (the reference is incorporated therein) on several hundred people from various hap-
logroups.
Keywords: Y Chromosome; Mutations; Haplotypes; Haplogroups; TMRCA; STR; SNP; “Out of Africa”
Introduction
This study concerns the origin of anatomically modern hu-
mans, which presumably belong to Y chromosomal haplogroups
A through T according to the classification developed in human
genetics and DNA phylogeny of man. This paper 1) sets forth a
timeframe for the origin of Europeoids (Caucasoids); 2) identi-
fies their position among all haplogroups (tribes) known today
on the haplogroup tree; and 3) offers evidence to re-examine
the validity of the “Out of Africa” concept.
The principal difference of our approach from those known
in human genetics is that our methodology is based on the iden-
tification of branches of haplotypes in each haplogroup and its
subclade (each branch is descended from its only common an-
cestor), and, in each case, is calculated a timespan from a com-
mon ancestor of the branch by verifying that the branch is in-
deed derived from one common ancestor and by using the crite-
ria described in (Klyosov, 2009a; Rozhanskii & Klyosov, 2011;
Rozhanskii, 2011). As a result, we obtained a chronology of all
available branches in each haplogroup and in their total en-
tirety—from A to T (in the current classification). In other
words, for each haplotype we successfully identified its place in
the whole multi-haplogroup system of mankind. It is reasonable
to assume that haplotypes of the whole of mankind form a con-
tinuous system, albeit locally interrupted by “population bot-
tlenecks” which essentially disrupt the initially continuous fab-
ric of haplotypes. This fabric can be reconstructed based on its
fragments and in the same manner as the kinetics of chemical
reactions can be reconstructed based on relatively few experi-
mental points. This analogy is rather close since mutations in
haplotypes obey the same laws of chemical kinetics, this was
discussed in the first paper of this series (Rozhanskii & Klyosov,
2011).
Thanks largely in part to geneticists, the “Out of Africa”
concept was popularized during the last two decades, yet it was
never directly proven; however, for many specialists its appeal
was undeniably convincing. The concept was based primarily
on the premise that Africa possesses the highest variability, or
variance, of the human DNA and its segments. Set apart, it is
not a strong argument because a mix of different DNA lineages
also results in a high variability and, as we show below, it is
largely what occurs in Africa. Moreover, a genomic gap exists
between some Africans and non-Africans, which has also been
interpreted as an argument that the latter descended from Afri-
cans. A more plausible interpretation might have been that both
current Africans and non-Africans descended separately from a
more ancient common ancestor, thus forming a proverbial fork.
A region where this downstream common ancestor arose would
not necessarily be in Africa. In fact, it was never proven that he
lived in Africa.
Research into this question has served as the basis for and the
subject of our work. We have found that a great diversity of Y
chromosomal haplotypes in Africa is a result of the mixing of
*Corresponding author.
A. A. KLYOSOV, I. L. ROZHANSKII
several very distant lineages, some of them not necessarily
African, and that Europeiods (at least) do not contain “African”
SNPs (those of haplogroups A or B). These important findings
put a proverbial dent in the “Out of Africa” theory.
Results and Discussion
The 22 marker haplotypes, which are the “slowest” in terms
of their mutation rate constant, described in (Klyosov, 2011a,
2011b; Rozhanskii & Klyosov, 2011) were mainly used in this
study. They are best suited for chronological calculations down
to 100,000 years and deeper in time. This is because one muta-
tion in these haplotypes occurs on average once in 4250 years,
while in 67 marker haplotypes, for example, one mutation oc-
curs—on average—once in 208 years (ibid). However, the 22
marker haplotypes include a part of the last panel of the 67
marker haplotypes and hence, 67 marker haplotypes were
needed for the study.
Haplogroup A
Extended haplotypes of haplogroup A collected in various
databases (YSearch, FTDNA Projects), split into at least four
different and distinctive DNA lineages, each with its base hap-
lotype. This is essentially represented with a series of 32 marker
haplotypes (Figure 1) and 37 marker haplotypes (Figure 2).
In a simple, uncomplicated case, the base haplotype is equi-
valent to the ancestral haplotype in the lineage. This is obvious
in recent lineages, in which most haplotypes still represent the
non-mutated ancestral haplotype. For more ancient lineages the
Figure 1.
A tree of 141 of 32 marker haplotypes of haplogroup A. Haplotypes
were taken from SMGF and FTDNA’s “Y-Haplogroup A Project”
(http://www.familytreedna.com/public/Haplogroup_A/default.aspx?sect
ion=yresults). A series of previously unreported haplotypes from Cam-
eroon was assigned to A1b subclade according to STR values, being
nearly identical to those found in Bahamas (Simms et al., 2011).
Figure 2.
A tree of 31 of 37 marker haplotypes of haplogroup A with some
subclades. Haplotypes were taken from YSearch и FTDNA’s “Af-
rican Project”
(http://www.familytreedna.com/publicwebsite.aspx?vgroup=Africa
n.DNAProject&section=yresults).
base haplotype is obtained by the minimization of mutations in
the haplotype dataset; therefore, the base haplotype represents
the deduced ancestral haplotype. The four base haplotypes of
haplogroup A in the 22 marker format are as follows:
12 11 11 - 9 11 - 10 - 10 9 12 12 7 10 8 null 13 11 16 10
14 9 11 11
12 10 11 - 7 13 - 8 - 10 8 15 17 6 10 9 12 13 11 16 8 13
11 11 12
13 11 12 - 10 11 - 16 - 10 9 14 14 8 8 8 9 12 11 12 8 12
12 11 11
12 13 10 - 10 11 - 10 - 11 8 15 15 8 9 8 null 10 9 14 8 12
8 11 12
These base haplotypes have been assigned to subclades A3b2,
A1a, A* (P97+, SRY10831.1-), and A* (M23-, M32-, P108-,
SRY10831.1-), respectively. It was calculated that the common
ancestors of the branches lived 5500, 5000, 600 years before
present (ybp), and the last one is an individual haplotype. It is
clear that these four haplotypes are tremendously distant from
each other, and this is taking into account the extremely low
mutation rates of the markers. The deduced base haplotype for
Copyright © 2012 SciRes. 81
A. A. KLYOSOV, I. L. ROZHANSKII
haplogroup A from the available data is as follows:
12 11 11 - 9 11 - 10 - 10 8 14 15 7 10 8 12 13 11 16 8 13
9 11 12
Since alleles in the four haplotypes above vary significantly,
the permutation method was applied (Klyosov, 2009a) for cal-
culation of a timespan to their common ancestor. The average
squared sum of all mutations in the four haplotypes above
equals to 984, and the number of conditional generations to a
common ancestor is 984/22/2/16/.00027 = 5177. That is,
132,000 years to a common ancestor of all the available haplo-
types of haplogroup A. In the formula above, 22 is the number
of markers in each haplotype; sixteen (16) is the square of the
number of haplotypes in the dataset, 2 is introduced because the
number of mutations was counted twice (all permutations),
and .00027 is the mutation rate constant per marker in the 22
marker haplotypes (Klyosov, 2011a, 2011b). A correction for
back mutations is not required in the permutation method
(Klyosov, 2009a).
Pairwise calculations of the dataset above give, as it should
be, slightly lower values of timespans to a common ancestor.
For example, base haplotypes of the A1a and A3b2 subclades
(see Figure 2) differ by 25 mutations in all 22 markers, which
places their common ancestor at 4167 8576 conditional
generations, that is 112,000 ybp. Two haplotypes with null-
mutation differ by 27 mutations, which places their common
ancestor at 4500 9922 conditional generations, that is
127,000 years to a common ancestor (see Materials and Meth-
ods for the principles of calculations). This gives an additional
support of the obtained “age” of haplogroup A as 132,000 ±
20,000 years.
Haplogroup B
A similar approach was applied to haplogroup B, and the
following 22 marker base haplotype was obtained for a com-
mon ancestor who lived 46,000 ybp (Klyosov, 2011b):
11 12 11 - 11 11 - 10 - 11 8 16 16 8 10 8 12 10 11 15 8 12
11 12 11
It differs from the base 22 marker haplotype of haplogroup A
by 18 mutations, which gives 18/.006 = 3000 generations. With
a correction factor (for back mutations) of 1.633, the result
constitutes 123,000 years between common ancestors of hap-
logroup A and B. Because they lived 132 and 46 thousand
years before present, respectively, their common ancestor lived
approximately 150,000 years before present (see Materials and
Methods).
The ISOGG (International Society of Genetic Genealogy)
annual review in 2010 and earlier stated “The BR haplogroup
split off from haplogroup A 55,000 years before present (bp). It
probably appeared in North East Africa”. Since the ISOGG-
2012 stated, “The A haplogroup is thought to have been defined
about 60,000 years bp
http://www.isogg.org/tree/ISOGG_YDNATreeTrunk.html then
haplogroups A and B should be separated by only several
thousand years, or by 2 - 3 mutations in their slow 22 marker
base haplotypes. It is not so, and between their base haplotypes
there are as many as 18 mutations in the 22 markers, which
translates to 123 thousand years (see above).
This finding indicates that haplogroup B did not descend
from haplogroup A. Rather, they both descended from a com-
mon ancestor who lived ~150,000 ybp, and he was not neces-
sarily living in Africa. Since he belonged to a haplogroup up-
stream from haplogroups A and B, his haplogroup can be
named “alpha-haplogroup”. It is a matter of taste and belief to
call it “Adam” or not.
Haplogroups C through T
The same methodology was applied to 7415 of 67 marker
haplotypes of all known haplogroups and their subclades, re-
duced to the slow 22 marker haplotypes, taken from databases
YSearch and SMGF and a multitude of FTDNA Projects (see
Appendix). The base haplotypes of principal haplogroups and
some of their subclades, including those of haplogroups A and
B, are listed below, and chronology of their appearance is
shown in Figure 3.
12 11 11 - 9 11 - 10 - 10 8 14 15 7 10 8 12 13 11 16 8 13
9 11 12 (A)
11 12 11 - 11 11 - 10 - 11 8 16 16 8 10 8 12 10 11 15 8 12
11 12 11 (B)
11 10 11 - 11 11 - 10 - 11 8 16 16 8 10 8 12 10 11 15 8 12
11 12 11 (B2a1)
11 13 11 - 11 11 - 11 - 10 8 16 16 8 10 8 12 12 11 13 8 12
10 11 11 (C
*)
11 13 11 - 11 11 - 10 - 10 8 16 16 8 10 8 12 12 12 13 8 12
11 11 11 (C)
11 13 11 - 11 12 - 10 - 10 9 16 16 8 10 8 12 11 12 13 8 12
12 11 10 (C3)
11 12 11 - 11 11 - 9 - 10 8 15 16 8 10 8 12 11 12 12 7 12
12 11 11 (DE)
11 12 11 - 10 11 - 10 - 10 8 16 18 8 10 8 12 11 12 15 7 12
10 11 11 (D2a)
11 12 7 - 11 11 - 10 - 10 8 16 16 8 10 8 12 12 12 12 7 13
12 11 11 (D3a)
11 12 11 - 11 11 - 10 - 10 8 15 15 8 10 8 12 12 12 12 8 12
11 12 11 (E)
11 12 11 - 11 11 - 9 - 10 8 15 15 8 10 8 12 11 12 12 8 12
12 12 11 (E1a)
11 12 11 - 11 11 - 10 - 10 8 15 16 8 10 8 12 11 12 12 7 13
12 11 11 (E1b1)
11 12 11 - 10 11 - 10 - 11 10 15 16 8 10 8 12 11 12 12 8
14 11 11 12 (F)
11 12 11 - 11 11 - 10 - 11 9 15 16 8 10 8 12 11 12 12 8 13
11 11 12 (F3)
11 12 11 - 11 11 - 10 - 11 8 15 16 8 10 8 12 10 12 12 8 13
11 11 11 (G)
11 12 11 - 11 11 - 10 - 11 8 15 16 8 10 8 14 10 12 12 8 13
11 11 11 (G2a)
11 12 11 - 11 11 - 10 - 11 8 16 16 8 10 8 11 10 11 12 8 13
11 11 11 (G2c)
11 12 11 - 9 12 - 10 - 11 8 16 16 8 10 8 13 10 12 12 8 12
11 12 14 (H)
11 12 11 - 10 12 - 9 - 11 8 16 16 8 10 8 13 10 12 12 8 12
11 12 14 (H1)
11 14 11 - 11 11 - 10 - 11 8 15 16 8 10 8 12 10 12 12 8 13
12 11 12 (I)
11 14 11 - 8 11 - 10 - 11 8 15 15 8 10 8 12 10 12 12 8 13
11 11 12 (I1)
11 13 11 - 11 11 - 10 - 11 8 15 16 8 10 8 12 11 12 12 8 13
10 12 12 (I2)
11 13 11 - 11 11 - 10 - 12 8 16 16 8 10 8 12 11 12 13 8 13
Copyright © 2012 SciRes.
82
A. A. KLYOSOV, I. L. ROZHANSKII
12 12 12 (I2
*)
11 13 11 - 10 12 - 10 - 11 8 15 16 8 10 8 12 11 12 12 8 13
12 12 12 (I2b2)
11 16 11 - 11 11 - 10 - 11 8 15 16 8 10 8 12 10 12 12 8 12
11 12 12 (J1)
11 15 11 - 11 11 - 9 - 11 7 15 15 8 10 8 12 10 12 12 8 12
11 12 12 (J2)
11 12 14 - 11 12 - 10 - 11 8 15 17 7 10 8 13 11 12 12 8 12
11 12 12 (L)
11 12 13 - 11 11 - 10 - 11 8 15 17 8 7 8 12 11 12 12 7 12
11 11 12 (NO)
11 12 12 - 11 12 - 10 - 11 8 15 16 8 10 8 12 10 12 12 7 12
11 11 12 (N1b)
11 12 14 - 11 12 - 10 - 11 8 15 17 8 10 8 12 10 12 12 7 12
11 11 12 (N1c1)
11 12 13 - 11 11 - 10 - 11 9 15 17 8 7 8 12 11 12 12 7 12
11 11 12 (O)
12 12 12 - 11 11 - 11 - 11 8 15 17 8 10 8 12 10 12 12 8 12
11 11 12 (P)
12 12 14 - 11 11 - 11 - 11 8 15 17 8 10 8 12 11 12 12 8 12
11 11 12 (Q1)
12 12 12 - 11 11 - 11 - 11 8 15 17 8 10 8 12 10 12 12 8 12
11 11 12 (R)
12 12 13 - 11 11 - 11 - 11 8 16 16 8 10 8 12 10 12 12 8 12
11 11 12 (R1a)
12 12 11 - 11 11 - 11 - 11 8 17 17 8 10 8 12 10 12 12 8 12
11 11 12 (R1a1a1)
12 13 13 - 11 11 - 11 - 11 8 15 16 8 10 8 12 10 12 12 8 11
11 11 12 (R1b1)
12 12 10 - 11 11 - 11 - 11 8 15 17 8 10 8 12 10 12 12 8 12
11 12 13 (R2)
11 12 13 - 11 13 - 9 - 11 8 17 17 8 10 8 12 10 12 12 8 11
12 11 12 (T1a)
11 12 13 - 11 12 - 9 - 11 8 17 17 8 10 8 12 10 12 12 8 11
12 11 12 (T1b)
11 12 11 - 11 11 - 10 - 11 8 15 16 8 10 8 12 10 12 12 8 12
11 11 12 (β-haplogroup)
Pairwise calculations of mutation distances between the base
haplotype of haplogroup A and each of the base haplotypes of
other haplogroups place a common ancestor of the α-haplogroup
at 160,000 ± 12,000 years before present. For example, 18 mu-
tations between A and B base haplotypes, as it was described
above, result in 150,000 ybp for their common ancestor. Twenty-
one (21) mutations with haplogroup DE base haplotype give
167,000 ybp for their common ancestor. Twenty-three (23)
mutations with haplogroup H base haplotype result in 171,000
ybp for their common ancestor with haplogroup A. For hap-
logroup I (21 mutations) it is 161,000 ybp. For haplogroup Q
(22 mutations) it is 166,000 ybp. For haplogroup R (21 muta-
tions) it is 160,000 ybp. The distance in 19 mutations between
the base haplotypes of haplogroup A and β-haplogroup places
α-haplogroup at 165,000 ybp. Clearly, the base haplotype of
haplogroup A and its subclades is very remote from all other
haplogroups.
Similar pairwise calculations with the base haplotype of
haplogroup B as well with all other haplogroups (besides A)
place a common ancestor of beta-haplogroup to 64,000 ± 6000
years before present (see Figure 3). This haplogroup is close to
or identical with the BT haplogroup according to the current
classification.
Figure 3 shows a topology of the current haplogroup tree.
The α-haplogroup which is the ancestral one with respect to
both African (left branch) and non-African haplogroups (right
branch) arose around 160,000 ybp, and 132,000 ybp gave rise
to haplogroup A. Another, quite different branch, had formed a
fork, then apparently went through a population bottleneck
around 70 - 60 thousand ybp (perhaps the Toba event), and
gave rise to β-haplogroup, ancestral to non-African haplogroups,
64,000 ± 6000 ybp.
Apparently, haplogroup B was initially not of an African ori-
gin. It could have migrated to Africa and mixed there with a
local Negroid population. A common ancestor of the present-
day bearers of haplogroup B lived 46,000 ybp. A similar story
had occurred with a group of bearers of haplogroup R1b1
around 4000 ybp, who ventured to the center of African conti-
nent during their westward migration along the African Medi-
terranean shore, an became a Negroid population having an
unusual (for Africa) haplogroup (Cruciani et al., 2010; Klyosov,
2012).
The Mongoloid and Austronesian haplogroup C split ~36,000
ybp and gradually populated regions of Central Asia, Australia
and Oceania. Haplogroup DE split to D and E around 42,000
ybp, and currently populates vast territory from North Africa to
the west to Korea and Japan to the east.
The family of haplogroup from F through T is largely the
Europeoid (Caucasoid) family. Most of bearers of these hap-
logroups remained Europeoids; however, some populations
have acquired racial features of the prevailing races in a given
region, recently or in the long past.
Based on the calculations given in this study, we know that
the far most bearers of haplogroup A live in Africa, and they
lived there probably all or most of those 132,000 years since
haplogroup A arose. It cannot be excluded, of course, that hap-
logroup A might have been appeared elsewhere and then mi-
grated to Africa. However, there is no reason to believe (and
fewer reasons to insist) that the Europeoid family originated in
Africa.
Lack of the African SNP (Haplogroup A) in
Non-Africans
A critical datapoint has emerged that disproves the “Out of
Africa” concept; specifically, recent data shows that non-Afri-
can people have neither M91, P97, M31, P82, M23, M114,
P262, M32, M59, P289, P291, P102, M13, M171, M118 (hap-
logroup A and its subclades SNPs), nor M60, M181, P90 (hap-
logroup B SNPs) in their Y-chromosomes.
In fact, according to the data obtained from the “Walk
Through the Y” (chromosome) international project conducted
by Family Tree DNA (Texas and Arizona) [see Appendix] not
one non-African participant out of more than 400 individuals in
the Project tested positive to any of thirteen “African” sub-
clades of haplogroup A, SNPs for which indicated above. If to
take, for example, bearers of R1a haplogroup, they each have
the ladder of SNPs from M42 and M139 (haplogroup BT, but
not haplogroup B, which, as it was described above, split and
migrated to Africa around 46,000 ybp or earlier), through M168
and M294 (haplogroup CT), P143 (haplogroup CF), M89 and
P158 (haplogroup F), L15 and L16 (haplogroup IJK), M9
(haplogroup K), М74, L138, P69, P230, P243, P244, P280,
P284, P286 (haplogroup P), М207, P224, P227, P229, P232,
P280, P285 (haplogroup R), P231, P241, P242, Р245, Р294
haplogroup R1), L145 and L146 (haplogroup R1), L120 and (
Copyright © 2012 SciRes. 83
A. A. KLYOSOV, I. L. ROZHANSKII
Copyright © 2012 SciRes.
84
Figure 3.
A haplogroup tree of Y chromosome derived from base haplotypes of haplogroups and subclades and their TMRCAs, systemati-
cally calculated as described in this study. 7415 haplotypes from 46 subclades of 17 major haplogroups have been considered for
the tree design. Timescale on the vertical axis shows thousands of years from the common ancestors of the haplogroups and sub-
clades. The tree shows the alpha-haplogroup, which is the ancestral haplogroup of the African and non-African haplogroups, and
the beta-haplogroup, which is the ancestral haplogroup, close or identical with BT haplogroup in the current classification. The left
branch represents haplogroup A (arose ~132,000 ybp) and its subclades. The right branch of haplogroups F through R including T)
represent Europeoids (Caucasoids) arose ~58,000 years before present. Haplogroup B (arose ~46,000 ybp) migrated to Africa, the
Mongoloid and Austronesian haplogroup C split ~36,000 ybp, apparently Middle Eastern haplogroups DE split ~42,000 ybp. A
region of the origin of the alpha-haplogroup ~160,000 ybp remains unknown. The Europeoid family of haplogroups arose appar-
ently in the triangle between Central Europe on the west, the Russian Plain (Eastern European Plain) on the east and Levant on the
south.
Table 1.
L122 (haplogroup R1a1), L168 (haplogroup R1a1a). In other
words, all of the SNP have been identified, which should be
found according to the phylogeny of R1a, but SNPs of the all
examined subclades of haplogroup A were completely absent.
The same pattern was observed with all other bearers of non-
African haplogroups. The bearers of haplogroup A were exclu-
sively positive to M91 SNP, characteristic of that haplogroup.
List of SNPs identified in haplogroup R1a1 and subclades of haplogroup
A. Ancestral and derived alleles are shown. For blank spaces data are
not available. Cont. in Table 2.
SNP R1a1 A1 A1a A1b A2 A3b2
V168 (alpha)
G AA G A
V171 (alpha)
C GG C G G
V221 (alpha)
G TT G G T
P108 (alpha)
C TT C C C T T
There are, however, four distinct SNPs which present in both
Africans and Europeans of haplogroup R1a1, taken the latter as
an example. They seem to be the most ancient SNPs, which are
defined the alpha-haplogroup (see Figure 3). Tables 1 and 2
illustrate this statement.
The ancestral alleles of the above four SNPs should corre-
spond to the alpha haplogroup. All four are mutated in hap-
logroup R1a1, and the WTY data show. All four are still ances-
tral in the A1 subclade. All other subclades of haplogroup A
show various combinations of the SNPs which do not match
those in haplogroup R1a1 (see also Table 2).
logroup R1a1, it maintains their ancestral state.
Table 2 shows SNPs of five subclades of “African” hap-
logroup A. None of those SNPs have been observed in hap-
These data, based on the SNPs (Single Nucleotide Polymor-
phism), along with the data based on the STRs (Short Tandem
A. A. KLYOSOV, I. L. ROZHANSKII
Table 2.
List of alleles of “African” SNPs identified in haplogroup R1a1 and
subclades of haplogroup A. Cont. from Table 1.
SNP R1a1 A1 A1a A1b A2 A3b2
M31 (A1a)
G C G C G
V50 (A2)
T C T T C
M32 (A3)
T C T T G T C
P289 (A3b)
C G C
M13 (A3b2)
G C G C
Repeats), described in this study, are compatible with each
other and undeniably indicate that non-African people, bearers
of haplogroups from C to T, did not descend from the “African”
haplogroups A or B. Their origin is likely not in Africa. A
higher variance of the DNA in Africa, which was a cornerstone
of the “Out of Africa” theory, is explained by Figure 3, in
which haplogroup A has been evolving (mutation-wise) for
132,000 years, while the non-European haplogroups are much
younger. Hence, there is a lower variability in the latter. The
same is related to language variability, which has also been
used as an argument of the African origin of non-Africans. We
believe that those arguments upon which the “Out of Africa”
theory was based were, in fact, conjectural, incomplete and not
actually data-driven. Therefore, we are left holding the question
of the origin of Homo sapiens.
Based on palaeoarchaeological evidence, the region, where
anatomically modern humans have likely originated, is com-
prised of a vast territory from Central Europe in the west to the
Russian Plain in the east to Levant in the south. Each of these
regions is renowned for discoveries of the oldest skeletal re-
mains of modern humans dating back to 42,000 - 44,000 ybp.
To date, none of these sub-regions has clear and unequivocal
advances in this regard.
Materials and Methods
7556 haplotypes, predominantly 67 marker ones, have been
collected in databases FTNDA, YSearch and SMGF (Sorenson
Database), and reduced to the slow 22 marker haplotype panels:
DYS426, DYS388, DYS392, DYS455, DYS454, DYS438,
DYS531, DYS578, DYS395S1a, DYS395S1b, DYS590, DYS641,
DYS472, DYS425, DYS594, DYS436, DYS490, DYS450,
DYS617, DYS568, DYS640, DYS492.
The methodology of haplotype datasets analysis was de-
scribed in (Klyosov, 2009a, 2009b; Rozhanskii & Klyosov,
2011). The most important research component involved dis-
secting the dataset to branches of haplotypes, each branch de-
scended from one common ancestor. This was examined and
verified by the logarithmic method (no mutation counting) cou-
pled with the linear method (based on mutation counting), as
described in (Klyosov, 2009a; Rozhanskii, 2011). The mutation
rate constant for the 22 marker haplotypes equals to .0060 mu-
tation/haplotype/conditional generation of 25 years, or .00027
mutation/marker/generation (Klyosov, 2011a; Rozhanskii &
Klyosov, 2011). Haplotype trees were composed using software
PHYLIP, Phylogeny Inference Package program (see Klyosov,
2009a, 2009b and references therein). Corrections for back
mutations were introduced as described in (Klyosov, 2009a;
Rozhanskii & Klyosov, 2011). Margins of error were calculated
as described in (Klyosov, 2009a). Permutation method of
TMRCA (time to the most recent common ancestor) calculation
was described in (Klyosov, 2009a).
Base haplotypes in the dataset were determined by minimi-
zation of mutations; by definition, the base haplotype is one
which has the minimum collective number of mutations in the
dataset. The base haplotype is the ancestral haplotype or the
closest approximation to the latter.
Example: Calculation of a timespan to a common ancestor
for the base haplotype for haplogroup A (132,000 ybp)
12 11 11 - 9 11 - 10 - 10 8 14 15 7 10 8 12 13 11 16 8 13
9 11 12 (A)
and that for the β-haplogroup (64,000 ybp)
11 12 11 - 11 11 - 10 - 11 8 15 16 8 10 8 12 10 12 12 8 12
11 11 12 (β-haplogroup)
19 mutations between the two base haplotypes results in
19/.006 = 3167 conditional generations (25 years each) without
a correction for back mutations. The number of mutations per
marker is 19/22 = .8636. By employing formula for back mu-
tations (Klyosov, 2009a), we find that a correction for back
mutation is

11exp .8636
2
=
1.686
Therefore, the “lateral” time difference between two base
haplotypes is 3167 × 1.686 = 5340 conditional generations of
25 year, that is 133,500 years. A common ancestor of the both
base haplotypes, A and β-haplotype, lived (133,500 + 64,000 +
132,000)/2 = 164,750 ybp.
Assignments of haplotypes to haplogroups and subclades
were based on their SNP classification, as provided in the data-
bases. In some instances it was additionally supported by cal-
culating their position of the phylogenic trees from their respec-
tive STR data.
Acknowledgements
The authors are indebted to Dr. Alexander Zolotarev, a par-
ticipant of the WTY project, for providing data of the Project,
and to Ms. Laurie Sutherland for valuable help with the prepa-
ration of the manuscript.
REFERENCES
Cruciani, F., Trombetta, B., Sellitto, D., Massaia, A., Destro-Bisol, G.,
Watson, E., et al. (2010). Human Y chromosome haplogroup R-V88:
A paternal genetic record of early mid Holocene trans-Saharan con-
nections and the spread of Chadic languages. European Journal of
Human Genetics, 18, 800-807.
Cruciani, F., Trombetta, B., Massaia, A., Destro-Bisol, G., Sellitto, D.,
& Scozzari, R. (2011). A revised root for the human Y chromosomal
phylogenetic tree: The origin of patrilineal diversity in Africa. The
American Journal of Human Genet i cs , 88, 1-5.
doi:10.1016/j.ajhg.2011.05.002
Klyosov, A. A. (2009a). DNA Genealogy, mutation rates, and some
Copyright © 2012 SciRes. 85
A. A. KLYOSOV, I. L. ROZHANSKII
Copyright © 2012 SciRes.
86
historical evidences written in Y-chromosome. I. Basic principles
and the method. Journal of Genetic Geneal ogy, 5, 186-216.
Klyosov, A. A. (2009b). DNA Genealogy, mutation rates, and some
historical evidences written in Y-chromosome. II. Walking the map.
Journal of Genetic Genealogy, 5, 217-256.
Klyosov, A. A. (2011a). The slowest 22 marker haplotype panel (out of
the 67 marker panel) and their mutation rate constants employed for
calculations timespans to the most ancient common ancestors. Pro-
ceedings of the Russian Academy o f DNA Genealogy, 4, 1240-1257.
Klyosov, A. A. (2011b). DNA genealogy of major haplogroups of Y
chromosome (Part 1). Proceedings of the Russian Academy of DNA
Genealogy, 4, 1258-1283.
Klyosov, A. A. (2012). Ancient history of the Arbins, bearers of hap-
logroup R1b, from Central Asia to Europe, 16,000 to 1,500 years
before present. Advances in An th r o p o l o g y , in press.
Rozhanskii, I. (2010). Evaluation оf the сonvergence оf sets in STR
phylogeny and analysis оf the haplogroup R1a1 tree. Proceedings of
the Russian Academy of DNA Gene al o gy , 3, 1316-1324.
Rozhanskii, I. L., & Klyosov, A. A. (2011). Mutation rate constants in
DNA genealogy (Y chromosome). Advances in Anthropology, 1, 26-
34. doi:10.4236/aa.2011.12005
Simms, T. M., Martinez, E., Herrera, K. J., Wright, M. R., Perez, O. A.,
Hernandez, M. et al. (2011). Paternal lineages signal distinct genetic
contributions from British Loyalists and continental Africans among
different Bahamian islands. American Journal of Physical Anthro-
pology, 146, 594-608. doi:10.1002/ajpa.21616
Appendix
Reference data were selected according to SNP assignment
from YSearch database: (http://www.ysearch.org) and public
projects of FTDNA
http://www.familytreedna.com/public/Haplogroup_A/default. as
px?section=yresults
http://www.familytreedna.com/public/Cha plogroup/default.asp
x?section=yresults
http://www.familytreedna.com/public /HaplogroupE1andE/defa
ult.aspx?section=yresults
http://www.familytreedna.com/public/E1b1a/default.aspx?secti
on=yresults
http://www.familytreedna.com/public/E3b/de fault.aspx?section
=yresults
http://www.familytreedna.com/public/G-YDNA/de fault.aspx?s
ection=yresults
http://www.familytreedna.com/public/YHaploGroupH/default.a
spx?section=yresults
http://www.familytreedna.com/public/y DNA_I1/default.a spx?s
ection=yresults
http://www.familytreedna.com/public/I2nosubcladeM170P215/
default.aspx?section=yresults
http://www.familytreedna.com/public/I2a HapGroup/default.asp
x?section=yresults
http://www.familytreedna.com/public/Y-DNA_J/de fault.aspx?s
ection=yresults
http://www.familytreedna.com/public/Y-Haplogroup-L/default.
aspx?section=yresults
http://www.familytreedna.com/public/N%20Y-DNA%20Projec
t/default.aspx?section=yresults
http://www.familytreedna.com/public/o3/de fault.aspx? section=
yresults
http://www.familytreedna.c om/public/R1Asterisk/default.aspx?
section=yresults
http://www.familytreedna.com/public/R1aY-Haplogroup/defaul
t.aspx?section=yresults
http://www.familytreedna.com/public/Y-Haplogroup-K2/defaul
t.aspx?section=yresults Walk through the Y (International Pro-
ject)
http://www.familytreedna.c om/faq/answers/def ault.aspx?fa qid=
27#1324
https://gap.familytreedna.com/media/docs/2010-FTDNA-TK.p
df