mtDNA Amerind Founder Haplogroup Project

Project Surnames

Aleut, Algonquin, All Tribes, American Indian, Amerind Founder, Apache, Apalachee, Arapaho, Arawak, Argentina, Athabasca, Aztec, Belize, Blackfoot, Bolivia, Brazil, Cherokee, Cheyenne, Chile, Chinook, Chippewa, Chukchi, Ciboney, Colombia, Comanche, Cree, Creek, Crow, Cuba, Dakota, Delaware, Dominican Republic, Ecuador, El Salvador, First Nations, Garifuna, Guatemala, Haida, Haplogroup A, Haplogroup B, Haplogroup C, Haplogroup D, Haplogroup X (NA), Honduras, Hoopa, Hopi, Huron, Inca, Indian, Indio, Inuit, Iroquois, Kickapoo, Kiowa, Klamath, Lakota, Lucayan, Lumbee, Maya, Mexico, Mohawk, Natchez, Native American, Navajo, Nez Percé, Nicaragua, Ojibwa, Osage, Paiute, Pawnee, Penobscot, Peru, Pima, Pohatan, Potawatomi, Pueblo, Puerto Rico, Quetchan, Salish, Seminole, Shawnee, Shoshone, Siberian, Sioux, Taíno, Tlingit, Tuckahoe, Tuscarora, Ute, Wichita, Yakima, Yanomama

Project Background

The purpose of the mtDNA Amerind Founder Haplogroup Project will be to determine the relationships of the different haplotypes within Haplogroups A, B, C, and D respectively as they migrated from the far North American continent southward through Mexico, Central and South America.

To determine the origins of the specific haplotypes which finally contributed to the populating of the Caribbean Basin.


The intent is to understand and learn more about the migratory routes of these individuals and the frequencies of the specific haplotypes as they relate to one another in the "New World".


For example, many Haplogroup C haplotypes found in the Caribbean, as have been discovered in Puerto Rico and Cuba, match individuals from Venezuela and have very similar haplotypes to the mtDNA of the Amazonian Yanomami tribe of the Venezuela/ Brazil border. Haplogroup A matches on the other hand, have been seen between Caribbean islanders, North Americans and those of Mexican decent. These ancestors carrying their specific mutations may have arrived in the Caribbean from one, two or all of these probable routes: the Florida peninsula, the Yucatan Peninsula or even Belize.



As the Native American Founder Haplogroup Populations migrated from Beringia inland and/or the coastal route along the North American continent, they experienced genetic bottlenecks before further expanding into North America and South America. Unique continent specific RFLPS arose during these bottlenecks and were then carried by the expanding populations. Therefore, Haplogroup specific "motifs" or marker signatures in addition to the presence or absence of unique RFLPs help to differentiate the NA Founder haplogroups from one another. The presence or absence of the RFLP 16517 HaeIII may further divide them into their respective subgroups or subclades. It is hoped that in the near future, DNA clade testing will be available to all those with haplotype sequences belonging to Haplogroups A, B, C, D and X.

As demonstrated in this Table of Coding Region Mutations adapted from Hernstadt et al (1), Haplogroup A has 12 coding region mutations in common with Haplogroup C, 11 with Haplogroup B, 11 with X and 9 with Haplogroup D. Despite many shared polymorphisms, Haplogroup C and D are members of Haplogroup M and have very distinct coding region polymorphisms not found in A. Haplogroup X appears to be very similar to A. In addition to the above polymorphisms, all have the mutation 16223T in common since Super haplogroups M and N are branches off of "Out of Africa" Haplogroup L3 whose defining motif is 223 (16223T). Haplogroup C bears the C16223T mutation since it is also the polymorphism used to classify all groups in Super Haplogroup M. However, it does not share the +10871MnlI coding region mutation common to A and X. Rather, it has three others: +10397 AluI, -13259 HincII and +13262 AluI. Haplogroup B, a sub group of Haplogroup R, is unlike the other four founder groups in that it has the definitive 9 bp del COII-tRNALys.
The complete table of polymorphisms associated with more than one haplogroup is found in Herrnstadt’s Table 2 relating to the Reduced Median Analysis of Coding Region Sequences for the major mitochondrial DNA haplogroups.
Reference:
1 Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups. Am J Hum Genet. 2002 May; 70(5): 1152-1171.

To view the table of the Polymporphisms common to A, B, C, D and X, click here

"Table of Haplogroup Markers and RFLPS (Restriction Fraction Length Polymorphisms) unique to Haplogroups A, B, C and D

Haplogroup	Unique Haplogroup Specific Marker	10394 DdeI/ 10397 AluI Status	16517 HaeIII Subgroup Status
A	+663 HaeIII	-/-	A1 (+16517 HaeIII)
			A2 (-16517 HaeIII)
B	9 bp del COII-tRNA Lys	-/-	B1 (+16517 HaeIII)
			B2 (-16517 HaeIII)
C	+ 13262 Alu I	+/+	C1 (+16517 HaeIII)
			C2 (-16517 HaeIII)
D	- 5176 AluI	+/+	D1 (+16517 HaeIII)
			D2 (-16517 HaeIII)

A

223 290 319

G

+663HaeIII

Main mutations, 73 status and Specific Coding Region mutation in Haplogroup A
(Ref: http://www.stats.gla.ac.uk/~vincent/founder2000/motif.html)

B

189

G

9bp del COII-tRNALysIII

Main mutations, 73 status and Specific Coding Region mutations in Haplogroup B
(Ref: http://www.stats.gla.ac.uk/~vincent/founder2000/mo tif.html)

C

223 298 327

G

+10397AluI -13259HincII/+13262AluI

Main mutations, 73 status and Specific Coding Region mutations in Haplogroup C
(Ref: http://www.stats.gla.ac.uk/~vincent/founder2000/mo tif.html)

D

223 362

G

-5176AluI +10397AluI

Main mutations, 73 status and Specific Coding Region mutation in Haplogroup D
(Ref: http://www.stats.gla.ac.uk/~vincent/founder2000/mo tif.html)

X

189 223 278

G

+14465AccIIII

Main mutations, 73 status and Specific Coding Region mutation in Haplogroup X
(Reference: http://www.stats.gla.ac.uk/~vincent/founder2000/motif.html)


New
Recent article on PLoS One on Native American Founders and Beringian relationships contains especially pertinent information of interest for our project participants. There is an excellent, "Schematic representation of phylogeny of human mtDNA outside of Africa. Branches encompassing Native Americans and their immediate Asian ancestral and sister lineages, represented by complete sequences, are shown in black with coalescence ages indicated and geographic location identified by colours. Lineages in brown correspond to the main haplogroups, found in Eurasia and Oceania, but absent in Native Americans. For complete phylogenetic tree"...

View the slideshow by clicking HERE: Native American Founders Phylogenetic Diagram Theory

Reference: Tamm E, Kivisild T, Reidla M, Metspalu M, Smith DG, et al. (2007) Beringian Standstill and Spread of Native American Founders. PLoS ONE 2(9): e829. doi:10.1371/journal.pone.0000829.

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