In
human genetics Haplogroup
Q1a3a is a
Y-chromosome DNA
haplogroup (Y-DNA). Haplogroup
Q1a3a'
is a
subclade of
haplogroup Q.
Haplogroup Q1a3a was previously known as haplogroup
Q3. In 1996 Dr. Peter Underhill and his
colleagues at Stanford
University
first discovered the indigenous American
clade or single nucleotide
polymorphism (SNP) that was to become known as M3
(Q1a3aM3). Later studies
completed the genetic bridge by determining that Q1a3a-M3 was
related Q-M242-bearing populations found predominately in Central Asia. Within the
parent Q clade, there is 13 haplogroups marked by 17
SNPs.
The "male" Y chromosome is one of the two sex chromosomes in
humans. The Y chromosome spans about 58 million base pairs (the
building blocks of
DNA) and represents about 2
percent of the total DNA in all human cells. The Y chromosome
differs from
Human
mitochondrial DNA haplogroups (mtDNA) in that the majority of
the Y chromosome is unique and does not recombine during
meiosis. Meaning the historical pattern of mutations
can easily be studied.
Indigenous American subclade Q1a3a (Q3)
Haplogroup
Q1a3aM3 is a Y Chromosome subclade
haplo generally associated with the
Indigenous peoples of the
Americas. This haplogroup is defined by the presence of the
rs3894 (
Q1a3a-
M3) single nucleotide
polymorphism (SNP). The
Q1a3a-
M3
SNP is found "downstream" from the
Q-
M242 (SNP). Q-M242 is the
defining (father-clade) single nucleotide polymorphism of the
Q haplogroup.
The
Q1a3a-M3 mutation is on the
Q lineage roughly 10,000 to 15,000
years ago, as the migration throwout the Americas was underway by
the early
Paleo-Indians. The
micro-satellite diversity and distribution of a Y lineage specific
to South America "Q-M19" indicates that certain Amerind populations
have been isolated since the initial colonization of the region
approximately 5,000 to 10,000 years ago. The
Na-Dené,
Inuit and
Indigenous Alaskan populations are
distinct from other indigenous Americans.
This suggests that the
earliest migrants into the northern extremes of North America and Greenland
derived from a much later populations along the
Bering sea coast
line
. This dates are in relative agreement with
the age of well-established
American archaeological evidence
of widespread habitation of the continent.
Subclade M19
Populations carrying
Q1a3a-M3 are widespread
throughout the Americas. Since the discovery of M3 several
subclades of M3 bearing populations have been
discovered in the Americas. An example is in South America where
some populations have a high prevalence of (SNP) M19 which defines
subclade
Q1a3a1-M19.
M19 has been detected
in (59%) of Amazonian Ticuna
men and in
(10%) of Wayuu men. Subclade
Q1a3a1-M19 appears to be unique to
South American Indigenous
peoples and suggests that population isolation and perhaps even
the establishment of tribes began soon after migration into the
Americas.
Father clade Q
A migration from Asia into
Alaska across the Bering Strait
(Beringia) was done by haplogroup
Q-M2 populations approximately 22,000 to 17,000
years ago. A member of this initial founding population
underwent a mutation, producing its descendant population defined
by the
Q1a3a-M3 single nucleotide polymorphism
(SNP). In
Eurasia haplogroup Q-M2 can still
be found in
Siberian
populations and in particular within two populations, the
Kets (93.8%) and the
Selkups (66.4%). The Kets are thought to be the only
survivors of
ancient nomads living
in Siberia.
Their population size is very small; as of
2002, there were fewer than 1,500 Kets in Russia
. The
Selkups have a slightly larger population size than the Kets, but
it is still a relatively small population (approximately 4,250 in
2002).
F-haplo family tree
.jpg/300px-Haplogroup_F_(Y-DNA).jpg)
The Y-DNA
F
Haplogroup family tree
- F-haplo -
This ancient haplogroup may have first appeared in India
, the
Levant, or the Arabian Peninsula - Possibly 50,000 to
55,000 years ago: 50,300±6500, Hammer and Zegura 2002;
48,000(38,700-55,700) The groups descending from haplogroup
F are found in 90% of the world current male populations, however
it appears most of the Sub-Saharan
African and subregion of the Oceanias
population is excluded.
- IJK -
Great-great-great-grandfather clade -Origin: Western Asia - 47,000 years ago
- K - Great-great-grandfather
clade -Origin: Western Asia - 42,000 years ago
- MNOPS
- Great-grandfather clade -Origin: Central Asia or Western Asia
34,000 - 40,000 years ago
- P (92R7,
M45, M74, N12, P27) - Grandfather
clade. Origin: Hindu Kush
region in Siberia
, Kazakhstan
, or Uzbekistan
, approximately 34,000 to 38,000 years ago
- P*
Found in Hvar
- Q
(M242) - Father clade. Origin: Siberia
Sakha Republic the Altai
Mountains
or Verkhoyansk
Range
, approximately 17,000 to 22,000 years
ago
- Q* -
Found at low frequencies in India
and Pakistan
- Q1 (P36.2)
- Q1a2 (M25, M143) - Found at low to moderate frequency among
some populations of Southwest Asia,
Central Asia, and Siberia
-
- Q1a3 (M346)
- Q1a3*
- Found at low frequency in Pakistan
, India
, and
Tibet
- Q1a3a (M3) - Subclade
associated with all Indigenous Americas.
Origin: Americas 10,000 to 15,000 years ago
- 10,000 year old human remains discovered in Alaska are part of
this subclade
- Q1a3a2 (M194) - This is the defining mutation for Q1a3a2. It
has only been found in South American populations.
- Q1a3a3 (M199, P106, P292) - They have only been found in South
American populations
- Q1a4 (P48)
- Q1a5 (P89)
- Q1a6 (M323) - Found in a significant minority of Yemenite Jews
- Q1b (M378) - Found at low frequency among samples of
Hazara and Sindhis
Y-DNA subclade C3b and Q*

Human Y-chromosome DNA haplogroup
tree
Haplogroup C3 (M217, P44) is mainly found in
indigenous Siberians, Mongolians
and Oceanic
populations. Haplogroup C3 is the most widespread and
frequently occurring branch of the greater
haplogroup C. Haplogroup C3 is believed
to have originated approximately 20,000 years before present in
eastern or central Asia. Haplogroup C3 decedent is commonly found
among today's
Na-Dené speakers as
C3b (P39). The Na-Dené are also unusual among
indigenous peoples of the Americas in having a relatively high
frequency of (
Q*). This distinct and isolated
branch
C3b (P39) includes almost all the
Haplogroup C3 Y-chromosomes found among any indigenous peoples of
the Americas.
- C3 (M217, P44, PK2)
- C3*
Typical of Buryats, Mongolians
, Daurs, Kalmyks, Hazaras,
Manchus, Sibes, Oroqens, Koryaks, and Itelmens; with a moderate distribution among other
Tungusic peoples, Koreans, Ainus, Nivkhs, Altaians,
Tuvinians, and Uzbeks
- C3a (M93) Observed sporadically among Japanese
- C3b (P39) Found restricted to the Na-Dené peoples of North
America
- C3c (M48, M77, M86) * Typical of Northern Tungusic peoples, Kazakhs, Oirats, Kalmyks, Outer
Mongolians, Yukaghirs, Nivkhs, Koryaks, and Itelmens, with a moderate distribution among
Southern Tungusic peoples, Inner
Mongolians, Buryats, Tuvinians, Yakuts, Chukchi, Kyrgyz,
Uyghurs, Uzbeks,
Karakalpaks, and Tajiks '*
- C3d (M407) Observed sporadically among Yakuts and Han
Chinese
- C3e (P53.1)
- C3f (P62)
- * Note: (One particular
haplotype within the Y-DNA Haplogroup C3 has received a great deal
of attention for the possibility that it may represent direct
patrilineal Descent from
Genghis Khan. Genghis Y-chromosomal lineage is
present in about 8% of the men in a large region of Asia and about
0.5% of the men in the world (Khan haplotype "C3c" is found lower
on the C tree and is not found in Indigenous Americas.
)
mtDNA
Human mitochondrial DNA haplogroup -
X is one of the five
mtDNA-haplogroups found in American indigenous
peoples. However, unlike the four main American mtDNA-haplogroups
(
A,
B,
C and
D) -
X is not at all
strongly associated with
East Asia. The X
genetic sequences subsequently further diverged about 20,000 to
30,000 years ago to give two sub-groups, X1 and X2.
X2a occurs only at a frequency of about 3% for the
total current indigenous population of the Americas. However, X2a
is a major mtDNA (female) subclade in
North America, where among the
Algonquian peoples it comprises up to 25% of
mtDNA types. It is also present in lesser percentages to the west
and south of this area — among the
Sioux
(15%), the
Nuu-Chah-Nulth (11%–13%),
the
Navajo (7%), and the
Yakama (5%). The (mtDNA)X-haplo is more strongly
present in the
Near East, the
Caucasus, and
Mediterranean Europe; and somewhat less
strongly present in the rest of Europe.
Particular
concentrations appear in Georgia
(8%), the Orkney Islands
(in Scotland
) (7%) and amongst the Israeli Druze community (26%). One theory for the
haplogroup X (subclade X2a) appearance in North America; is it
migrated along with A,B,C, and D mtDNA groups from a matrilineal (female) ancestral source
originating in the Altai Region
of central Asia.
Overlap between mtDNA and Y-DNA haplogroups
Populations that have a specific combination of Y-haplogroup and
mt-haplogroup mutations can generally be seen in specific regional
variations. Y mutations and mt mutations do not necessarily occur
at a similar time and there are differential rates of sexual
selection between the two. Combined with the
founder effect and
genetic drift this can alter the haplogroup
composition of an isolated population making them very
distinguishable.(i.e
Taínos,
Fuegians,
Inuit and
Yupik)
The rough overlaps between Y-DNA haplogroups and mtDNA haplogroups
between the American and Siberia indigenous populations are:
See also
- Y-chromosomal Adam - most
recent common ancestor for all currently living men
(Y-DNA)
- Mitochondrial Eve - most
recent common ancestor for all currently living humans
(mtDNA)
- Lithic stage - 25,000 to 10,000
years ago in American Archaeology
Further reading
- Supplementary Table 2: NRY haplogroup distribution
in Han populations, from the online supplementary material for
the article by Bo Wen et al., "Genetic evidence
supports demic diffusion of Han culture," Nature 431,
302-305. 16 September 2004 Retrieved 2009-11-27.
- Table 1: Y-chromosome haplotype frequencies in 49
Eurasian populations, listed according to geographic region,
from The Eurasian Heartland: A continental perspective
on Y-chromosome diversity, Proceedings of the National Academy of
Sciences of the United States of America. R. Spencer Wells et
al. August 28, 2001 Retrieved 2009-11-27.
- Michael F. Hammer, Tatiana M. Karafet, Hwayong Park, Keiichi
Omoto, Shinji Harihara, Mark Stoneking and Satoshi Horai. Dual origins of the Japanese common ground for
hunter-gatherer and farmer Y chromosomes," Journal of Human
Genetics. Volume 51, Number 1 2006. Retrieved
2009-11-27.
- Yali Xue, Tatiana Zerjal, Weidong Bao, Suling Zhu, Qunfang Shu,
Jiujin Xu, Ruofu Du, Songbin Fu, Pu Li, Matthew Hurles, Huanming
Yang and Chris Tyler-Smith, Male demography in East Asia: a north-south contrast in
human population expansion times," Genetics 172:
2431–2439 2006. Retrieved 2009-11-27.
- Atsushi Tajima, Masanori Hayami, Katsushi Tokunaga, Takeo Juji,
Masafumi Matsuo, Sangkot Marzuki, Keiichi Omoto and Satoshi Horai,
Genetic origins of the Ainu inferred from combined
DNA analyses of maternal and paternal lineages," Journal of
Human Genetics. Volume 49, Number 4. April, 2004.
Retrieved 2009-11-27.
- R. Spencer Wells et al., The Eurasian Heartland: A continental perspective on
Y-chromosome diversity," Proceedings of the National Academy of
Sciences of the United States of America. 2001 August 28;
98(18): 10244–10249. Retrieved 2009-11-27.
- Ivan Nasidze, Dominique Quinque, Isabelle Dupanloup, Richard
Cordaux, Lyudmila Kokshunova, and Mark Stoneking, Genetic Evidence for the Mongolian Ancestry of Kalmyks,"
American Journal of Physical Anthropology.
126:000–000. 2005. Retrieved 2009-11-27.
- Sanghamitra Sengupta, Lev A. Zhivotovsky, Roy King, S.Q. Mehdi,
Christopher A. Edmonds, Cheryl-Emiliane T. Chow, Alice A. Lin,
Mitashree Mitra, Samir K. Sil, A. Ramesh, M.V. Usha Rani, Chitra M.
Thakur, L. Luca Cavalli-Sforza, Partha P. Majumder, and Peter A.
Underhill, Polarity and Temporality of High-Resolution
Y-Chromosome Distributions in India Identify Both Indigenous and
Exogenous Expansions and Reveal Minor Genetic Influence of Central
Asian Pastoralists," The American Journal of Human
Genetics. Volume 78, Issue 2, 202-221, 1 February 2006.
Retrieved 2009-11-27.
- Peter A. Underhill, Peidong Shen, Alice A. Lin et al..
chromosome sequence variation and the history of
human populations," Nature Genetics. Volume 26,
November 2000. Retrieved 2009-11-27.
- Jeffrey T. Lell, Rem I. Sukernik, Yelena B. Starikovskaya, Bing
Su, Li Jin, Theodore G. Schurr, Peter A. Underhill and Douglas C.
Wallace, The Dual Origin and Siberian Affinities of Native American
Y Chromosomes," The American Journal of Human
Genetics. Volume 70, Issue 1, 192-206, 1 January 2002.
Retrieved 2009-11-27.
- Brigitte Pakendorf, Innokentij Novgorodov, Vladimir Osakovskij,
Albina Danilova, Artur Protodjakonov, and Mark Stoneking,
"Investigating the effects of prehistoric migrations in Siberia:
genetic variation and the origins of Yakuts," Human
Genetics, Volume 120, Number 3, October 2006, pp.
334-353(20).
- V. N. Kharkov, V. A. Stepanov, O. F. Medvedeva, M. G.
Spiridonova, N. R. Maksimova, A. N. Nogovitsina, and V. P. Puzyrev,
The origin of Yakuts: Analysis of the Y-chromosome
haplotypes," Molecular Biology. Volume 42, Number 2.
April, 2008. Retrieved 2009-11-27.
External links