Haplogroup Q1a3a (Y-DNA)

	Haplogroup Q1a3a
Time of origin	8 to 12 thousand years ago
Place of origin	Americas
Ancestor	Haplogroup Q
Defining mutations	rs3894 (M3)

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In human genetics Haplogroup Q1a3a is a Y-chromosome DNA haplogroup. Haplogroup Q1a3a is a subclade of Haplogroup Q. Haplogroup Q1a3a was previously known as Haplogroup Q3.

[edit] Indigenous American Clade

Haplogroup Q1a3a is the only Y Chromosome haplogroup strictly associated with the indigenous peoples of the Americas. This haplogroup is defined by the presence of the rs3894 (M3) Single Nucleotide Polymorphism (SNP). The M3 SNP is found "downstream" from the M242 SNP. M242 is the defining SNP of the Q Haplogroup. M3 occurred on the Q lineage roughly 8-12 thousand years ago as the migration into the Americas was underway. There is some debate as to on which side of the Bering Strait this mutation occurred, but it definitely happened in the ancestors of the indigenous peoples of the Americas.

[edit] Discovery of M3

In 1996 Dr. Peter Underhill and his colleagues at Stanford University first discovered the SNP that was to become known as M3. Later studies completed the genetic bridge by determining that M3 was related to M242-bearing populations found predominately in Central Asia.^[1]

[edit] Subgroups

Populations carrying M3 are widespread throughout the Americas. Since the discovery of M3 several subclades of M3 bearing populations have been discovered in the Americas as well. An example is in South America where some populations have a high prevalence of SNP M19 which defines subclade Q1a3a1. M19 has been detected in 59% of Amazonian Ticuna men and in 10% of Wayuu men.^[2] Subclade Q1a3a1 appears to be unique to South American populations and suggests that population isolation and perhaps even the establishment of tribes began soon after migration into the Americas.^[3]

The subclades of Haplogroup Q1a3a with their defining SNP's (in parenthesis):^[4]

Q1a3a (M3)
- Q1a3a* (---)
- Q1a3a1 (M19)
- Q1a3a2 (M194)
- Q1a3a3 (M199, P106, P292)

[edit] Associated, Unclassified SNP's

Several new SNP's have been found to be associated with Haplogroup Q1a3a. The discovery of these new SNP's can be largely attributed to the increase in the popularity of commercially available personal genetic testing services. Because more SNP's are being tested data is being gathered in increasingly efficient ways by the amateur, academic, and commercial genetics communities. With regard to SNP's associated with Haplogroup Q1a3a, derived SNP's have been discovered at the following locations: rs34549365, rs35768544 (L55), rs34724285 (L53), and rs34954951 (L54).^[5]