Group Administrator:
Katherine Borges - Email:
kvjjmmborges@msn.com
Project Background
Mitochondrial haplogroup N is a "Macro-haplogroup", also called a "Superhaplogroup", which means that several branches of other haplogroups formed from N.
Family Tree DNA's haplogroup description of N:
The N superhaplogroup has been characterized as pan-Eurasian. Haplogroup N is one of the two major trunks emerging from the original African root, and dates to approximately 65,000 years ago. Interestingly, several sub-haplogroups of the N cluster—haplogroup N1 and derivative lineages—have been detected in the Near East, suggesting either early divergence near the root of haplogroup N or subsequent migrations back towards western Eurasia following the original dispersal into east Eurasia. Future work will further document the historical distribution of this root haplogroup and closely related haplogroups within the N cluster.
Excerpts from Dr. Spencer Wells' new book "Deep Ancestry":
HAPLOGROUP N
Ancestral line "Eve" -> L1/L0 -> L2 -> L3 -> N
Haplogroup N, like M, is one of two groups that descend directly from haplogroup L3. Early members of this group lived in the eastern Mediterranean region and Western Asia. Some members bearing mutations specific to haplogroup N formed many groups of their own which went on to populate much of the rest of the globe. These descendants are found throughout Asia, Europe, India, and the Americas. However, because almost all of the mitochondrial lineages found in the Near East and Europe descend from N, it is considered a western Eurasian haplogroup.
HAPLOGROUP N1
Ancestral line "Eve" -> L1/L0 -> L2 -> L3 -> N -> N1
In addition to a wide geographic distribution similar to N, this haplogroup is significant because its members constitute one of the four major Ashkenazi Jewish founder lineages. Most historical records indicate that the founding of this population took place in the Rhine Basin and subsequently underwent vast population expansions.
N1b ASHKENAZI FOUNDER LINEAGE
A haplogroup N subclade, N1b - has been identified as one of four Ashkenazi Jewish founder lineages. This is defined by the transition G to A at the nucleotide position 16176 - See:
"The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event"
D. Behar, et al.
A NOTABLE "N"
A famous member of haplogroup N is Ann Curry, a host on the "Today Show", who is haplogroup N9a. Her haplogroup designation was shared during a November 18, 2005 interview with Dr. Spencer Wells of National Geographic's Genographic Project.
ADDITIONAL RESOURCES
Wikipedia's Haplogroup N
Ian Logan's Haplogroup N Chart
Ancient DNA from a Pre-Columbian Amerindian Population by A. Stone and M. Stoneking
Abstract only available at link, e-mail administrator for full-text article. This 1993 study found mtDNA haplogroup N in 2.0 frequency (%) distribution in Amerindian remains at the Norris Cemetery site in central Illinois. The burial site dates circa 1300 AD.The authors acknowledge that N is not normally found in Amerind populations and state:"This new mtDNA lineage might be present in contemporary Amerindian populations but not yet sampled, or it might belong to a lineage that is no longer present in contemporary populations. Alternatively, this new mtDNA lineage might actually be one of the four lineages, but a mutation or reversion has occurred at the relevant diagnostic marker, thereby obscuring the affiliation of this mtDNA type. Another possibility is that this sample was contaminated by modern DNA of non-Amerindian origin. While we have taken extensive precautions to minimize the possibility of such contamination (described above), we cannot completely rule it out. We plan to sequence the hypervariable segments of the mtDNA control region of this individual to provide additional information concerning the origin and phylogenetic relationship of this (apparently) new mtDNA lineage." [pg 466]
Major genomic mitochondrial lineages delineate early human expansions by N. Maca-Meyer, et al.
Scientific study with charts and data on Hg N including the following excerpt: "The second cluster groups minor haplogroups W, I and N1b, the three are present although in low frequencies in Europe, Near East and Caucasus but only I and N1b have been also detected in Egypt and Arabia. The last group radiated around 39,000–52,000 yr BP, giving at least four ancestral clusters." [pg 5] 2001
Mitochondrial variability in Poles and Russians by B. Malyarchuk, et al.
Scientific study with tables and data containing info on N1b and N1c - ie: "N1b and N1c sequences are defined by tentative HVS I motifs 16145-16176G-16223 and 16223-16265, correspondingly (Richards et al. 2000), and were found as individual haplotypes in Poles." [pg 11]
Phylogeny of Mitochondrial DNA Macrohaplogroup N in India by M. Palanichamy, et al.
Scientific study with data on N1d and N5; summary excerpt: "To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region sequences sampled across India." [pg 1]
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population by D. Behar, et al.
Scientific study with charts and data on Ashkenazi N1b; excerpt: "In examining HVS-1 sequences associated with the third most common Hg in our Ashkenazi sample, N1b (shown as part of N in Figure 1), we note a remarkable lack of haplotype diversity: 54 of the 57 Ashkenazi N1b haplotypes have the same HVS-1 sequence motif (145-176A- 223), with a diversity index of 0.06. This is the second most common HVS-1 haplotype (9.6%) in our Ashkenazi sample. Despite its much lower frequency in Europeans and Near Eastern non-Jews, Hg N1b has an overall diversity of 0.3 in these groups. It is also important to note that the Ashkenazi N1b haplotype differs by a single transition from what has been considered the ancestral N1b haplotype (145-176G-223), and has not been previously reported. Since Hg N1b is almost entirely restricted to the Near East, we infer a Near Eastern origin for the derived Ashkenazi N1b haplotype." [pg 5]
mtDNA polymorphisms in five French groups: importance of regional sampling by V. Dubut, et al. Contains sampling data on N1b found in the region of Pe´rigord-Limousin.[pg 4]
Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing by C. Turchi, et al. EXCERPT:
"Hg N2a (0.25%) and N1b (1.27%) were observed at low frequencies, according to other west European studies [13, 28]; the occurrence of
152, 16145, 16176G, 16223, 16390 polymorphisms in these samples, in combination with a site loss at 11362 AluI led to a classification into subhaplogroup N1b1. Pg 5 [2006]
Phylogeographic Analysis of Mitochondrial DNA in Northern Asian Populations by M. Derenko, et al.
"It is noteworthy that N1a haplotypes revealed in southern Siberia belong to the central Asian N1a subcluster, which comprises the mtDNA lineages found also in central Asia and in the South Ural and Volga regions. This subcluster probably originated in the central Asia/southern Siberia region, because it was found in a 2,500-year-old Scytho-Siberian burial in the Altai region. Meanwhile, N1a is very rare in modern populations of central Asia (in Turkmens, Karakalpaks, and Uzbeks), as well as in southwestern Asia (in Iranians and Indians)."..."It seems important that southwestern Asian populations (according to data reported elsewhere) also share the other members of haplogroup N1–N1b (in Iran and Pakistan), N1c (in Iran), and N1d (in India and Pakistan), pointing to southwestern Asia as the source of lineage. In this context, our finding of a previously unobserved ancestral node of haplogroup I phylogeny in the Baikal region is very intriguing.
This lineage, named here as “N1e,” was revealed in the Buryat population. Complete genome sequencing has demonstrated that haplogroup N1e appears to be a sister branch of haplogroup I and has allowed us to identify four mutations (at positions 250, 4529, 8251, and 15924) representing an N1eI trunk." [Pg 8-9]2007
Mitochondrial DNA control region variation in Ashkenazi Jews from Hungary by A. Brandstätter, et al. Excerpt from abstract: "One hundred and seventy three entire mtDNA control region sequences were generated and analyzed in a population sample from Ashkenazi Jews living in Hungary." Sampling excerpt: "Haplogroup N1b1 amounted for 6.9% of samples..." [Pg 3]2007
N1b1 Sequences:
16145A-16176G-16223T-16390A-16519C-73G-152C-263G-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176G-16223T-16271C-16390A-16519C-73G-152C-204C-263G-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16126C-16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
16145A-16176A-16223T-16390A-16519C-73G-152C-263G-309.1C-315.1C
A database of mitochondrial DNA hypervariable regions I and II
sequences of individuals from Slovakia by I. Lehocky, et al. Pg 4 [2008]
SEQUENCES:
N1a 147CA-154-172-223-320-355 73-152-199-203-204-263-309.1C-315.1C
N1a 147CA-172-223-248-320-355 73-152-199-204-263-309.1C-315.1C
N1b 145-176CG-223-390 73-152-263-309.1C-315.1C
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Member:
Katherine Borges
Haplogroup N Volunteer DNA Project Administrator
The Haplogroup N mtDNA Study is an independent genealogical research study and receives no grant underwriting. Participants are responsible for the costs of their own tests.
The project was organized as a cooperative effort among those who wish to explore genetic testing to advance their knowledge of deep and recent family backgrounds.
Information and data obtained from the Haplogroup N mtDNA Study must be attributed to the project, administrator, and Family Tree DNA as outlined in the Creative Commons License. Please notify administrator when using data for public or private research.
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