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Tuesday, May 15, 2012

Notes on mtDNA Hg X

"...X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East..."


"...X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East..."

"...For Native Americans, the relatively old presence of haplogroup X is confirmed
by the analysis of ancient human remains (Stone and Stoneking 1999; Malhi and Smith 2002).
Moreover, Native American haplogroup X mtDNAs form a clade distinct from that of West
Eurasians and with coalescence time estimates varying widely depending on both the
method of estimation and the number of assumed founders. Thus, the coalescence times
ranged from 12,000–17,000 YBP to 23,000–36,000 YBP, times that are consistent
with both a pre- and a postglacial population diffusion (Brown et al. 1998)..."

"...X2 is well represented in the tree, and it is further subdivided into at least six major clades
(X2a–X2f), which include clades X1 and X2 as defined by Herrnstadt et al. (2002). All 20 X2 sequences, including the 2 Native American X2a sequences, share transitions at nucleotide positions (nps) 195 and 1719..."


"...The adenine at np 153 appears relatively conserved in the phylogenetic context
of 376 complete human mtDNA sequences taken worldwide,
exhibiting a change to guanine only in haplogroups
A and X (Ingman et al. 2000; Finnila¨ et al. 2001;
Maca-Meyer et al. 2001; Derbeneva et al. 2002; Mishmar
et al. 2003)..."

"...In contrast, this position shows a high
level of variation in the background of haplogroup X
as both the 153A and 153G alleles are present in its
different subclades. It is possible that the ArG transition
at 153 arose only once in the haplogroup X ancestor
and the recurrent reverse mutations in 11 branches in
figure 2 bear witness to the process of favored fixation
of the more stable A allele..."

"...Virtually all (97.2%) haplogroup X mtDNAs from the
Near East, the South Caucasus, and Europe were found
to belong to subhaplogroup X2, as did all (100%) of
those from Siberia and Central Asia and some (36.8%)
of those from North Africa (table 2). Thus, subhaplogroup
X2 is characterized by a very wide geographic
range but also by an infrequent occurrence. Indeed, it
generally comprises <5% of the mtDNAs in West Eurasian
and North African populations (table 1). *Three
exceptions include the Druze, the Georgians, and the
Orkney Islanders, among whom the frequency of X2
reaches 11%, 8%, and 7%, respectively*. The high frequencies
of X2 in the Druze and the Orkney Islanders
are combined with a low haplotype diversity (0.400 and
0.473, respectively), and the relatively high frequency in
these populations is most likely due to genetic drift and
founder events..."

"...Overall, it appears that the populations
of the Near East, the Caucasus, and Mediterranean Europe
harbor subhaplogroup X2 at higher frequencies
than those of northern and northeastern Europe (P !
.05) and that X2 is rare in Eastern European as well as
Central Asian, Siberian, and Indian populations and is
virtually absent in the Finno-Ugric and Turkic-speaking
people of the Volga-Ural region..."

"...Coalescence time estimates based on HVS-I and coding region variation—
17,900 +/- 2,900 YBP and 21,600+/- 4,000 YBP, respectively
(figs. 1 and 2)—are consistent with the range
expansion of X2 around or after the last glacial maximum
(LGM). It is intriguing that the estimated coalescence
time for X2 alone is very close to that obtained
from HVS-I data for the entire haplogroup X (20,200
3,100 YBP) (fig. 2). However, the latter is probably
an underestimate due to both the higher proportion
(190%) of X2 mtDNAs included in the calculations and
the fact that the HVS-I consensus sequence of X2 is
completely identical to that of the overall haplogroup
X..."



"...Two-thirds of the subhaplogroup X2 sequences fall
into the five clades X2b–X2f (fig. 2). Two sequences—
one from Lebanon and one from Georgia—lacked the
transition at np 1719, suggesting either the presence of
an early X2 branch or a reversion at that nucleotide
position..."

"...The sister groups X2b and X2c (X1 and X2,
respectively, in the work of Herrnstadt et al. 2002) encompass
one-third of the European sequences (excluding
the samples from the North Caucasus). It is of interest
that some North African sequences (from Morocco and
Algeria) belong to X2b as well. Subhaplogroup X2b
shows a diversity that is consistent with a postglacial
population expansion in both West Eurasia and North
Africa..."

"...Clades X2e and X2f encompass the majority
(87.1%) of the sequences from the South Caucasus area
and show coalescence times (12,000 4,000 YBP and
10,800 5,000 YBP, respectively) consistent with a
Late Upper Paleolithic (LUP) origin and a subsequent
spread in the region..."

"...We found significant differences
between the haplogroup distribution between the North
and the South Caucasian samples, a result that indicates
a major geographical barrier between the two regions.
The South Caucasian sample is enriched in mtDNAs
belonging to clades X2e and X2f (P ! .01), whereas the
North Caucasian sample shows a higher proportion of
sequences derived at nps 225 and 16248 (P < .01)..."

"...Clade X2e, defined by the synonymous substitution
at 15310, encompasses all haplogroup X sequences in
the Altaians (fig. 2). Among the nine Altaian X sequences,
eight harbor the founder HVS-I motif of X2e,
and seven of these eight also carry the HVS-II founder
motif. As a result, a very low haplotype diversity of
haplogroup X (0) in the Altaian region was obtained,
making it significantly different from the haplotype
diversities for haplogroups C and D (0.835 and 0.943,
respectively) in the same region. Moreover, the nine Altaian
mtDNAs do not harbor any nucleotide difference
between nps 16090 and 16365. Therefore, under the
assumption that these sequences are a random sample
of the Altaian haplogroup X, an estimated r value <0.33
(P <.05) was obtained. This value corresponds to a time
depth of <6,700 years (Forster et al. 1996), and it would
*suggest that Altaians have acquired haplogroup X2 only
relatively recently*..."


"...This scenario is supported by the *concomitant
presence in the Altaians of a wide range of
other West Eurasian haplogroups* (H, J, I, T, U1, U4,
and U5) that comprise ∼27% of their mtDNAs. Indeed,
any recent migration (for example, from the [southern]
Caucasus region) that might have carried X2e mtDNA
sequences to the Altai region would also explain the
*presence of the other West Eurasian mtDNA haplogroups
in modern Altaians*..."

"...Further northeast of the Altai area, haplogroup X sequences
were detected in the Tungusic-speaking Evenks,
of the Podkamennaya Tunguska basin (Central Siberia).
In contrast to the Altaians, the Evenks did not harbor
any West Eurasian mtDNA haplogroups other than X.
However, *neither of the two Evenk X haplotypes showed
mutations characteristic of the Native American clade
X2a. Instead, one sequence was a member of X2b and
the other of X2* (fig. 2)*..."


"...one possible scenario is that several X haplotypes arrived in Siberia from western
Asia during the Palaeolithic, but only X2a crossed Beringia
and survived in modern Native Americans. Alternatively,
the presence of two phylogenetically different
haplogroup X mtDNA sequences in this particular subpopulation
of Evenks might be due to recent gene flow..."

"...We surveyed our Old World haplogroup
X mtDNAs for the five diagnostic X2a mutations
(table 2) and found a match only for the transition
at np 12397 in a single X2* sequence from Iran. In a
parsimony tree, this Iranian mtDNA would share a common
ancestor with the Native American clade..."

"...Yet, the nonsynonymous substitution at np 12397 converting
threonine to alanine cannot be regarded a conservative
marker, as it has also been observed in two
different phylogenetic contexts—in haplogroups J1 and
L3e—among 794 complete mtDNA sequences..."

"...These findings leave unanswered the question of the
geographic source of Native American X2a in the Old
World, although our analysis provides new clues about
the time of the arrival of haplogroup X in the Americas.
Indeed, if we assume that the two complete Native
American X sequences (from one Navajo and one
Ojibwa) began to diverge while their common ancestor
was already in the Americas, we obtain a coalescence
time of 18,000 +/- 6,800 YBP..."


"...X2 is spread widely
throughout West Eurasia. Second, it is apparent that the
Native American haplogroup X mtDNAs derive from
X2 by a unique combination of five mutations. Third,
the few Altaian (Derenko et al. 2001) and Siberian haplogroup
X lineages are not related to the Native American
cluster, and they are more likely explained by recent
gene flow from Europe or from West Asia..."


"...The phylogeographic patterns and the coalescence
times that we obtained here suggest that the
basic phylogenetic structures of the mtDNA haplogroups
in West Eurasia and North Africa are as ancient
as the beginning of the spread of anatomically modern
humans in this region. Finally, phylogeography of the
subclades of haplogroup X suggests that the Near East
is the likely geographical source for the spread of subhaplogroup
X2, and the associated population dispersal
occurred around, or after, the LGM when the climate
ameliorated. The presence of a daughter clade in northern
Native Americans testifies to the range of this population
expansion..."

Reidla et al. 2003

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180497/


"...Phylogenetic mitochondrial DNA haplogroups are highly
partitioned across global geographic regions. A unique
exception is the X haplogroup, which has a widespread global
distribution without major regions of distinct localization..."

"...We observed a striking overall pattern of heterogeneous parental
origins, consistent with Druze oral tradition, together with both
a high frequency and a high diversity of the mitochondrial DNA (mtDNA) X
haplogroup within a confined regional subpopulation..."

"...Galilee Druze represent a population isolate, and that the combination
of a high frequency and diversity of the mtDNA X haplogroup signifies a
phylogenetic refugium, providing a sample snapshot of the genetic landscape
of the Near East prior to the modern age..."

"...Haplogroup X is one of the exceptions to this pattern of limited geographical
distribution, and is found at low frequencies among West Eurasians[2], northern
groups of Native Americans[3], as well as in northern Africa and the Near East[4].
A very high global genetic diversity has been reported for haplogroup X[4]..."


"...X2 is characterized by a much wider geographic range, but at the same time by very
low frequencies in the populations of the regions where it is found[4]. No population
or geographic region has been identified to date, in which haplogroup X and its major
subhaplogroups are found at both high frequency and high diversity, which could provide
a potential clue as to their geographic origin. Here we suggest that the Druze population
of northern Israel may represent just such a population..."

"...The Israeli Druze population is estimated at 150,000, and is distributed over three
geographical subregions: the Carmel, the Galilee, and the Golan Heights. It has been
postulated according to historical records that the origin of the Druze in each of
these regions is different. Although the Druze represent a small percentage of the
total population of the countries of the Near East in which they reside, their concentration
in mountainous districts has produced a compact social structure, resulting in a nearly exclusive
majority in some geographical regions, and therefore a low frequency of admixture with other
populations. Druze customs strongly favor marriage within the same village or the same geographical
area[5]. This social structure has turned the Druze into transnational isolates – a population
which remains genetically isolated largely through the social practice of endogamy and consanguinity,
despite being found in the midst of larger population majorities in multiple nationalities or
countries[6]. Furthermore, unlike other monotheistic religions, the Druze tenets strictly close
their religion to new adherents, thus forbidding admixture with other populations..."

"...we uncovered an unexpectedly high diversity of Druze X-haplogroup lineages, which together with
its high frequency suggest that this population provides a glimpse into the past genetic landscape
of the Near East, at a time when the X haplogroup was more prevalent..."


"...mtDNA X-haplogroup, in which we found both a high frequency (13.1%, 41/311 samples) together with a high diversity of haplotypes, as defined in Macaulay et al(7) on the basis of sequence variation at the HVS-I region (nucleotides 16090–16365) (Table 1). Macaulay et al[7] also found a high frequency of the X haplogroup (26%, 12/45 samples) in the Druze, but with a significantly lower diversity (p<0.00005) for both X1 and X2, (p value was calculated using t-test combined with bootstrap standard error analysis according to Nei16) , and proposed a bottleneck or founder effect. Given the different sampling strategies, we sought to determine the total number of different mtDNA X haplogroup lineages in our sample set. In order to determine the total number of distinct lineages, we followed the approach previously described for several other populations[13]–[15], of first sequencing the complete HVS-I and HVS-II D-loop sequences for all samples in the haplogroup, followed by complete sequencing of the entire mtDNA for each of the D-loop defined haplotypes. We found that the 41 Druze X-haplogroup sequences were comprised of 11 different D-loop defined haplotypes. Accordingly, we conducted full mtDNA sequencing for each of these 11 different D-loop defined haplotypes and found a total of 7 different coding region defined lineages, 2 of which belonged to major subhaplogroup X1 and 5 of which belonged to major subhaplogroup
X2..."


"...We found that 39 of 41 haplogroup X Druze individuals were from the Galilee heights (Table S2), corresponding to 21.4% (39/182) of the samples from that region. Enrichment analysis[22] revealed that both X1 and X2 were highly enriched in this region (P = 9.3*10^−5 and = 3*10^−4, respectively)..."


"...One particularly exceptional example of both high diversity and high frequency of haplogroup X was the Galilee heights village of Peq'in, where 6 of 17 households (35.3%) belonged to four distinct lineages of haplogroup X (X1a, X1b, X2e and X2*), yielding a calculated genetic diversity for both X1 and X2 of 0.667±0.02. This village, is believed to be one of the oldest Druze villages in Israel, and is mentioned in historical records dating from the 13th century..." 


"...Galilee Druze individuals represent the
refugium of an ancestral group with high diversity and high
frequency of haplogroup X, which was more prevalent in the
region in antiquity, and from which the global diversity of X
mtDNA haplogroup emerged..."


"...estimated coalescence times for the major mtDNA X subhaplogroups X1
and X2 are 42,900 +/- 18,100 and 17,900 +/- 2,900 respectively[4]..."


"...It should be kept in mind however, that the computational algorithms used for the
demographic modeling are designed for models involving an
ancestral population which split and maintained constant
migration rate among the two daughter populations. Such a
simplified model does not take into account the effect of shared
party migration, and therefore would tend to overestimate the
migration rate, and underestimate the divergence time[40]..."


"...this combination among the Druze, of a large number of lineages, together with a high
frequency of the haplogroup in which these lineages are found,
suggests descent from an ancestral population, in which the X
haplogroup was more abundant than it is in the contemporary
Near East, and which reflects the prevailing Near East genetic
landscape at that time, antedating the establishment of the Druze
religion in 1017 A.C.E. This supports the notion that the Druze
represent a refugium of the population genetic structure from the
time period prior to the ‘‘Dawa’’, and also confirms the hypothesis
of high endogamy among the Druze. The refugium hypothesis
based on mtDNA haplogroup X analysis was corroborated by the
finding of high diversity for the Druze mtDNA haplogroups H and
K, with the added finding of novel lineages not shared with nearby
populations..."

"...Taken together these findings support the hypothesis that the Galilee Druze are a
further more isolated subpopulation of the Druze, who in turn represents a refugium
of the population genetic architecture of the Near East in antiquity..."


"...It is thus likely that the global diversity of this haplogroup evolved in the Near East and
adjacent regions of western Eurasia, during a long incubation period coinciding with and
following the most recent out of Africa expansion as dated by mtDNA coalescence simulations[44]..."


Shlush LI, Behar DM, Yudkovsky G, Templeton A, Hadid Y, et al. (2008) The Druze: A Population
Genetic Refugium of the Near East. PLoS ONE 3(5):
e2105. doi:10.1371/journal.pone.0002105

http://www.plosone.org/article/info:doi%2F10.1371%2Fjournal.pone.0002105


Wouldn't this be a trip:

http://en.wikipedia.org/wiki/File:Haplogroup_X_%28mtDNA%29.PNG

"...The diagram below (on the left) is from the Chauvet Cave in France and is a historical
representation of the origin of these boat people, the Black Sea area. From Google Earth
the ancient shoreline of thousands of years ago can be seen by a lower smaller water shoreline..."

http://thelamplight.ca/schematicoftime/images/boatsea.jpg

"...The view and homeland of this ancient sea was from the north shore so looking towards the
south was the sea. In the cave diagram this north view shows the sea upside down as the
bottom of the diagram would be closer to artist and the view in front of them. I added missing
dots that I was told extended to the left of the cave painting (this surface had fallen off
many years ago). The red dashed line shows the approximate ancient shore line and river that
was another obstacle to transverse..."

"...I was also told that these boat people of the Black Sea area left at the same time other families
of more land based hunter groups did (due to climate change). The sea water had lowered to a level
that the salt content was too high for any great amount of fish and other aquatic life. They settled
in a rich land south of France, that is now under water (shown in the map below)..."

http://thelamplight.ca/schematicoftime/images/france.jpg

"...I asked the question....Who were the "Boat People"..."?

"...Description: They called themselves the Kamrillacon - (pronounced,  Camil - a- con). - dark-skinned -
stout framed - thick wavy hair - wide faces - humours ones that smiled and laughed a lot. They
reminded me somewhat of the Ainu people of today..."

http://thelamplight.ca/schematicoftime/boats.htm


Charlie Hatchett

www.pre-clovis.com
www.forum.pre-clovis.com
www.blog.pre-clovis.com


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