The Haplogroup N mtDNA Study- Background



Welcome to the mtDNA haplogroup N project!  Mitochondrial haplogroup N is a "Macro-haplogroup", also called a "Superhaplogroup."  All humans who left Africa descended from mtDNA haplogroup L3, and that ancient lineage soon gave rise to two great daughter families, M and N, which, in turn, became the mothers of billions.  M and her offspring are found only among Asians and natives of the Americas, while N is global, with her descendants including almost all haplogroups found in Europeans, as well as most people from the Middle East, Southwest Asia and the Caucasus.  N branches are also found in South and East Asia, and descendants also came to the Americas.

The branches of N in this project are some of those that sprang earliest from the roots, closer to the time of the exodus from Africa than the later haplogroups which have become the majority.  Over millennia, many human lineages always die out, so that there are fewer and fewer of the oldest lines that survive.   That is the reason why there are so few members of these early N clades still found today: their great age.

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.

A paper published in 2010 focuses on haplogroup N1a, the first to take such an in-depth look at one of our early N branches.  It's available for free downloading!  Mitochondrial haplogroup N1a phylogeography, with implication to the origin of European farmers by Malliya Gounder Palanichamy et al.  This paper contains a very detailed phylogenetic tree of haplogrouup N1a, which we hope to soon reproduce here.  We must mention that one of our project co-admins collaborated with the author in the early stages of this study, several years ago.  Not only that, but the mtDNA of several members of this project was generously donated to and sequenced in this study, making an invaluable contribution to the advancement of our knowledge of this rare group!

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 position16176 - 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.


Wikipedia's Haplogroup N

Mannis van Oven's mtDNA sub-tree N at

Ancient DNA from a Pre-Columbian Amerindian Populationby A. Stone and M. Stoneking Abstract only available at link, e-mailadministrator for full-text article. This 1993 study found mtDNA haplogroup Nin 2.0 frequency (%) distribution in Amerindian remains at the Norris Cemeterysite in central Illinois.The burial site dates circa 1300 AD.The authors acknowledge that N is notnormally found in Amerind populations and state:"This new mtDNA lineagemight be present in contemporary Amerindian populations but not yet sampled, orit might belong to a lineage that is no longer present in contemporary populations.Alternatively, this new mtDNA lineage might actually be one of the fourlineages, but a mutation or reversion has occurred at the relevant diagnosticmarker, thereby obscuring the affiliation of this mtDNA type. Anotherpossibility is that this sample was contaminated by modern DNA ofnon-Amerindian origin. While we have taken extensive precautions to minimizethe possibility of such contamination (described above), we cannot completelyrule it out. We plan to sequence the hypervariable segments of the mtDNAcontrol region of this individual to provide additional information concerningthe origin and phylogenetic relationship of this (apparently) new mtDNAlineage." [pg 466]

Major genomic mitochondrial lineages delineate earlyhuman expansions by N. Maca-Meyer, et al. Scientific study with charts and dataon Hg N including the following excerpt: "The second cluster groupsminor haplogroups W, I and N1b, the three are present although in lowfrequencies in Europe, Near East and Caucasus but only I and N1b have been alsodetected in Egypt and Arabia. The last group radiated around 39,000–52,000 yrBP, 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 N1band N1c - ie: "N1b and N1c sequences are defined by tentative HVS Imotifs 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 inIndia by M. Palanichamy, et al. Scientific study with data on N1d and N5;summary excerpt: "To resolve the phylogeny of the autochthonousmitochondrial DNA (mtDNA) haplogroups of India and determine the relationshipbetween the Indian and western Eurasian mtDNA pools more precisely, a diversesubset of 75 macrohaplogroup N lineages was chosen for complete sequencing froma collection of >800 control-region sequences sampled across India."[pg 1]

MtDNA evidence for a genetic bottleneck in the earlyhistory of the Ashkenazi Jewish population by D. Behar, et al. Scientific studywith charts and data on Ashkenazi N1b; excerpt: "In examining HVS-1sequences 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 haplotypediversity: 54 of the 57 Ashkenazi N1b haplotypes have the same HVS-1 sequencemotif (145-176A- 223), with a diversity index of 0.06. This is the second mostcommon HVS-1 haplotype (9.6%) in our Ashkenazi sample. Despite its much lowerfrequency in Europeans and Near Eastern non-Jews, Hg N1b has an overalldiversity of 0.3 in these groups. It is also important to note that theAshkenazi N1b haplotype differs by a single transition from what has beenconsidered the ancestral N1b haplotype (145-176G-223), and has not beenpreviously reported. Since Hg N1b is almost entirely restricted to the Near East, we infer a Near Eastern origin for the derivedAshkenazi 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 inthe region of Périgord-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 N1ahaplotypes 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 nodeof 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 positions250, 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:

















A database of mitochondrial DNA hypervariable regions I andII sequences of individuals from Slovakia by I. Lehocky, et al. Pg 4[2008]


N1a 147CA-154-172-223-320-35573-152-199-203-204-263-309.1C-315.1C

N1a 147CA-172-223-248-320-35573-152-199-204-263-309.1C-315.1C

N1b 145-176CG-223-390 73-152-263-309.1C-315.1C

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Katherine BorgesHaplogroup N Volunteer DNA Project Administrator


The Haplogroup N mtDNA Study is an independent genealogicalresearch study and receives no grant underwriting. Participants are responsiblefor the costs of their own tests. The project was organized as a cooperativeeffort among those who wish to explore genetic testing to advance theirknowledge of deep and recent family backgrounds. Information and data obtainedfrom 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. Creative Commons License
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