Complete sequencing of 62 mitochondrial DNAs mtDNAs belonging or very closely related to haplogroup H revealed that this mtDNA haplogroup—by far the most common in Europe—is subdivided into numerous subhaplogroups, with at least 15 of them H1—H15 identifiable by characteristic mutations.
All the haplogroup H mtDNAs found in 5, subjects from 43 populations were then screened for diagnostic markers of subhaplogroups H1 and H3. This survey showed that both subhaplogroups display frequency peaks, centered in Iberia and surrounding areas, with distributions declining toward the northeast and southeast—a pattern extremely similar to that previously reported for mtDNA haplogroup V.
This has also some implications for disease studies. For instance, the high occurrence of H1 and H3 in Iberia led us to re-evaluate the haplogroup distribution in 50 Spanish families affected by nonsyndromic sensorineural deafness due to the AG mutation.
The survey revealed that the previously reported excess of H among these families is caused entirely by H3 and is due to a major, probably nonrecent, founder event.
For most of human evolution, and particularly during the recent process of diffusion from Africa to the other continents, the relatively fast evolution of human mitochondrial DNAs mtDNAs has occurred in a context of small founding populations. For some haplogroups, particularly the more common ones, multiple chronologically distinct arrivals to Europe are extremely likely.
In addition, the genetic landscape of Europe has probably been further confounded by the major climatic changes that have occurred since the arrival of the first modern humans. This scenario is supported not only by recent work on archaeological dating Housley et al. Among the mtDNA haplogroups of Europe, haplogroup H displays two unique features: an extremely wide geographic distribution and a very high frequency in most of its range. In addition, because of its high frequency and wide distribution, haplogroup H most likely participated in all subsequent episodes of putative gene flow in western Eurasia, such as the Neolithic diffusion of agriculture from the Near East, the expansion of the Kurgan culture from southern Ukraine, and the recent events of gene flow to northern India.
As a result, it is likely that the dissection of H into subhaplogroups of younger age might reveal previously unidentified spatial frequency patterns, which in turn could be correlated to prehistoric and historical migratory events.
However, until now, haplogroup H has been only partially resolved genealogically Herrnstadt et al. Therefore, the objective of this study is to provide new information concerning the molecular dissection of haplogroup H and to determine whether its subhaplogroups do indeed show such spatial patterns.
To achieve this objective, the first step consisted in the complete sequencing of 62 mtDNAs performed as described by Torroni et al.The Fascinatingly Mysterious Origins of the Ainu
In addition, for the choice of these mtDNAs, we also took into account the nature and extent of the sequence variation observed in a preliminary sequence analysis restricted to the control region; the objective being to include the widest possible range of haplogroup H internal variation. The remaining eight mtDNAs were chosen because the RFLP analysis and control-region sequencing had suggested that they belonged to haplogroups that were closely related to H.
Thus, their complete sequences would allow the definition of the branching order of the entire superhaplogroup HV. A tree of the 62 complete mtDNA sequences authors' Web site ; GenBank is illustrated in figure 1which also incorporates information from previous studies about shared mutations in minor subbranches Ingman et al.
The tree, rooted in haplogroup R, includes 62 mtDNAs 1—62 sequenced in this study and illustrates subhaplogroup affiliations. Phylogeny construction was performed by hand, following a parsimony approach, and was confirmed by use of the program Network 4.
For the phylogeny construction, half weight was assigned to the control-region positions, and the pathological mutations, and shown in italics were excluded. Mutations are shown on the branches; they are transitions, unless the base change is explicitly indicated. This differs from the reference sequence Andrews et al.Here, we report the variation of Y-chromosomes within the Ashkenazi and non-Ashkenazi Levite R1a clade, other Ashkenazi Jewish paternal lineages, as well as non-Levite Jewish and non-Jewish R1a samples.
We analyzed 47 fully sequenced Y-chromosomes and reconstructed the haplogroup Q3 phylogenetic tree in detail. Around 3—4 millennia ago Bronze Agethe Q3a branch underwent a rapid expansion, splitting into seven branches, some of which entered Europe. The results provided genetic evidence that gene flow between Jewish and non-Jewish populations occurred early in Jewish settlement in Europe with isolation of the groups thereafter.
We report on two of the oldest mitochondrial DNA clusters in existence with Jewish affiliation. Both are in haplogroup T2e1. Four unrelated individuals from the Mexico mtDNA project were found to have the control region mutations that characterize a Sephardic signature previously reported motif TT within T2e.
Full genomic sequencing found the identical coding region mutations as Sephardic individuals which provides genetic evidence for founders of Northern Mexico that were both female and Sephardic Jewish. The relative roles of natural selection and accentuated genetic drift as explanations for the high frequency of more than 20 Ashkenazi Jewish disease alleles remain controversial. To test for the effects of a maternal bottleneck on the Ashkenazi Jewish population, we performed an extensive analysis of mitochondrial DNA mtDNA hypervariable segment 1 HVS-1 sequence and restriction site polymorph.
Comparative sequence analysis was carried out on 12 Samaritan Y-chromosome, and mtDNA samples from nine male and seven female Samaritans separated by at least two generations.Here you'll find: information that usually goes out to the Gates Cousins email list, biographies of special characters as they are discovered and added to the family tree, research histories of select cases, questions and wonderings about hard-to-solve searches and other miscellaneous thoughts about genealogy and its mysterious ability to transcend time, changing us hundreds of years after the changing event occurred.
I'm still in the midst of reading this post, here at am thank you insomnia and I'm already fascinated. I too am H7a1 and on 23andme if you'd like to share. I have not been able to trace my direct maternal line as far as you have or to CT. What great information. I just received results from 23andme and was researching more information on H7a1, as I am that also.
Your site helped tremendously!! Thank You!!! I'm interested in your La Salle line. Please email me at wdillen att. I am interested in your Myers family. I have 23andme results. I have an Achsah Myers that I cannot locate.
I'm a H7a1 from Ohio too! Also found out from 23andme. Haven't done much maternal research, but I know I have had some Priscillas in the family as well, so this was a fun little connection. Hello, I'm H7a1 too.
I've been able to trace my direct maternal line back to Sarah Reeves maiden name unknown in North Farnham Parish, Rappahannock County, Virginia, in the mid 's. A ways from Connecticut, but I have to wonder if we might be related. I'm on both Family Tree and 23 and Me, please look me up if you're interested in sharing data.
Born and raised, going back to my great grandparents and possibly further. Still here. Post a Comment. Hello my dear Gates cousins and interested visitors, In honor of my mother's birthday yesterdayI am sharing some genealogy news about our mother line.
H is associated with northern Europe and is the most common haplogroup in Europe. It is also referred to as "Helena. This is the "umbilical" line, DNA which has been passed down identically in the mitochondria of each cell from mother, to daughter, to granddaughter, and on, in an unbroken line, for thousands of years! When a mutation occurs in the mitochondrial DNA, which it does naturally, it is passed on to the next generation, creating a living record that tags those people carrying that DNA from then on.
Scientists use this change in DNA, called a "marker," as a way of tracking where people lived at various times in history. All people with the same markers are categorized in groups called haplogroups. This is deep ancestry, thousands of years ago.
See chart below of the mother line from Connie Gates to Priscilla Whitson. Priscilla Whitson either came from England or was already in Mass.The associations found in our study appear to support a functional explanation by which mtDNA variation among haplogroups influencing ATP production, ROS generation, and apoptosis is correlated to AIDS disease progression, however repeating these results in cohorts with different ethnic backgrounds would be informative.
Mitochondria are critical for energy production and control of apoptosis in the cell. Through oxidative phosphorylation, mitochondria convert calories to ATP, release heat to maintain body temperature, and generate reactive oxygen species ROS. Mitochondrial energetics are accomplished by cooperation of 37 genes encoded by the mitochondrial genome with an estimated 1, nuclear genes [ 1 ]. While mtDNA encodes only 13 proteins directly involved in ATP production, their roles are central to mitochondrial function.
MtDNA variation in these genes from indigenous populations correlates with latitude and climate, suggesting that these differences are adaptive [ 2 — 4 ]. Genotypes differ in coupling efficiency such that there is a trade-off between highly efficient ATP production and increased heat release in colder temperatures.
Because mitochondrial gene function is critical, mtDNA variation has also been directly associated with propensity for metabolic disease, neurodegenerative disease, cancer, and microbial infections [ 15 — 9 ]. Interactions between viral infection and mitochondrial energetics suggest that mtDNA variation could also play a role in viral disease progression.
Mitochondria are the key regulators of apoptosis, an important host immune response to viral infection [ 10 ]. Many viruses have evolved strategies to prevent viral suppression via apoptosis or even exploit mitochondrial pathways to destroy cells involved in the host immune response.
As HIV-1 infection progresses, higher concentrations of Vpr [ 1213 ], and other viral-encoded proteins including Tat [ 14 ] and the gpgp41 envelope complex [ 1516 ] elicit apoptosis of cells in the immune system. AIDS progression is also associated with mtDNA depletion [ 19 ], disruption of energy production via oxidative phosphorylation, increased ROS production [ 20 ], antioxidant enzyme deficiency [ 21 ], and increased oxidative damage which accelerates AIDS progression [ 22 ].
In addition, mitochondrial toxicity to drugs used in highly active anti-retroviral therapy HAART for HIV-1 has been linked to severe side-effects including lipodystrophy, peripheral neuropathy, hepatic steatosis, myopathy, cardiomyopathy, pancreatitis, bone-marrow suppression, and lactic acidosis [ 23 — 27 ]. Nearly all of these side-effects resemble clinical symptoms seen in inherited mitochondrial diseases [ 28 ] and mtDNA haplogroup T has been associated with peripheral neuropathy [ 29 ].
We examined mtDNA haplotypes in the context of our recent global mutational phylogeny [ 30 ] and describe five associations with AIDS progression that can be interpreted in light of the physiological influences known for the mitochondrial genotypes. Informed consent was obtained from all patients. Ninety-seven percent of patients were male. Cohorts can be divided into mode of infection intravenous versus sexual transmission. There are two cohorts of people with hemophilia who would have likely contacted AIDS through exposure to contaminated blood products: the MHCS is a multi-center longitudinal cohort study enrolling subjects from 17 American or European treatment centers beginning in September [ 32 ] and the HGDS is a US-based multicenter cohort of participants from 14 US treatment centers who became infected between — [ 31 ].
SFCC contains more long-term survivors than the other cohorts [ 35 ]. ALIVE is a community-based cohort of injecting drug users in Baltimore, Maryland established in and followed until [ 36 ].
ALIVE patients were included in the analyses of all European Americans, but were not analyzed separately due to limited sample size.Yet outside consumer genetics, the word haplogroup is still unknown. Your haplogroup, or genetic branch of the human family tree, tells you about your deep ancestry—often thousands of years ago—and shows you the possible paths of migration Your haplogroup, or genetic branch of the human family tree, tells you about your deep ancestry—often thousands of years ago—and shows you the possible paths of migration taken by these ancient ancestors.
Your haplogroup also places you within a community of relatives, some distant, with whom you unmistakably share an ancestor way back when.
You inherited your mitochondrial DNA purely from your mother, who inherited it from her mother, and her mother, and so on. Today, all members of haplogroup H1 are direct descendants from the first H1 woman that lived thousands of years ago. The origin of haplogroup H1 continues to be a debate as well. Most researchers suggest it was born in the Middle East between 10, and 15, years ago, and spread from there to Europe and North Africa. However, ancient DNA studies show that its ancestral haplogroup H first appears in Central Europe just 8, year ago.
Its vast diversity and high concentration in Spain and Portugal, suggests H1 may have existed there during the last Ice Age, and spread north after glaciers melted. Yet others postulate that its young age and high frequency indicate it spread as agriculture took shape in Europe. Any of the scenarios is possible. As technology improves, more DNA is extracted and sequenced from ancient bones, and more people contribute their DNA to the Genographic Projectwe will keep learning about H1, and all other haplogroups.
It is because of participants contributing their DNA, their stories, and their hypotheses to science that we can carry forward this exciting work uncovering our deep genetic connections. December 24, Haplogroup H3, sister branch to H1 The origin of haplogroup H1 continues to be a debate as well. Happy Haplogroups! Miguel Vilar. Miguel is also a molecular anthropologist and a science writer.
His fieldwork has taken him to remote places throughout the South Pacific, East Africa, Mesoamerica, and the Caribbean. In the laboratory he researches the modern genetic diversity of human populations from Melanesia, Micronesia, North and Central America, and the Caribbean.
Miguel has published in several anthropology and genetics journals, as well as popular science magazines.After registration is submitted, you will receive a confirmation email, which should contain a link to confirm your intent to register for the forum. At this point, you will not yet be registered on the forum. Our Support staff will manually approve your account within 24 hours, and you will get a notification. This is to prevent the many spam account signups which we receive on a daily basis.
If you have any problems completing this registration, please email support jackkruse. Discussion in ' Mitochondrial Rx ' started by Valsun12Aug 23, Sign In Register. Jack Kruse Optimal Health Forum. Registering for the Forum We require a human profile pic upon registration on this forum.
So I wanted to dedicate a thread to Maternal Haplogroups and information on what they say about our mitochondrial health.
I just did he 23and me and see that I am the below, V7.
People: Ashkenazi Jews
How do I translate this to what latitude my mitochondria might thrive in o any other information with my health? Any thoughts Maternal Haplogroup is V7: Origin and Migrations of Haplogroup V Recent evidence suggests that the members of haplogroup V descend from a woman who lived in Europe approximately 10, years ago. When her ancestors arrived in Europe is more of a mystery.
They may have migrated to the west from the Middle East before the last great peak of the Ice Age, which occurred around 20, years ago. This wave of cold covered the continental interior in icy tundra and pushed Europe's human population south into a few temperate enclaves in the south along the Mediterranean.
Haplogroup V likely arose in one of these refuges in the Iberian Peninsula, or perhaps in southeastern Europe. Valsun12Aug 23, H is about as broad European as you can get. H85 is virtually unknown--little info about it. So other than being European it's not helpful for me. GracelindAug 23, Jude likes this. Jack KruseAug 23, H — Mitochondrial haplogroup H is a predominantly European haplogroup that participated in a population expansion beginning approximately 20, years ago.
It is rather uniformly distributed throughout Europe suggesting a major role in the peopling of Europe, and descendant lineages of the original haplogroup H appear in the Near East as a result of migration.
Future work will better resolve the distribution and historical characteristics of this haplogroup. H1 — H1 is the most common branch of haplogroup H. H1a — H1a is a branch of H1. Further research will better resolve the distribution and historical characteristics of this haplogroup. H2 — H2 is somewhat common in Eastern Europe and the Caucasus, but likely spread from Western Europe because it is not found in significant frequency in the Near East.
It is found in its highest frequency in Germany and Scotland. H2b — H2b is the branch to which the CRS belongs. H3 — H3 is the second most common branch of H.
Like H1, it is found mainly in Western Europe. However, H3 is not found in significant frequencies in the Near East. It is at its highest frequency in Iberia and Sardinia, and is about 10, years old.
H4 — H4 is an uncommon branch and is found at low frequencies in both Europe and the Near East. H5 — H5 is distributed across Iberia, Central, Eastern, and Southeastern Europe, and is also found at low frequencies in the Near East, where it may have originated. H5a — H5a is found at its highest frequency in Central Europe and is about thousand years old. It is found at low frequency in Europe, and since it is not found or is rare in the Caucasus and the Near East it likely has a European origin.
H6 — H6 is an older branch of haplogroup H. Its age is estimated at around 40, years. Studies suggest that this haplogroup is Middle Eastern or Central Asian in origin. It is also found at very low frequencies in Europe. H6a — H6a has similar distribution to its parent branch H6. H6c — H6c is found at very low frequency, and can be found in European populations. H7 — H7 is an uncommon branch and is found at low frequencies in both Europe and the Near East.
It is very uncommon in Europe.