Haplogroup H
Posted: Fri Aug 07, 2015 9:35 am
My MTDNA is H . I have that lineage back 7 generations to Caty unknown married to George Williams in Old Rappahanock VA in the area that the Rappahanock Indians were.. My maternal grandmother said she was Indian, perhaps Cherokee, her fathers familie were from GA to AL by 1812. Before the revolutionary war the Bonners and Jones were in NC Chowan Precinct the futherest I can get on that side, they were French Huguenit and also Quaker. Her mothers families were from GA, VA and also included French Huguenot, Irish, Native American, NC.
Hap H traces to France it is also prominent among Royals. I couldn't account for some countries in my research like Estonia, Hungary, or Galacia. I have a blood type of O- thar is found among Basque and Native Americans. This I did find in this paper on H
Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976717/
American Journal of Human Genetics
American Society of Human Genetics
The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool
Alessandro Achilli, Chiara Rengo, [...], and Antonio Torroni
Additional article information
Abstract
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 5,743 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. Furthermore, the coalescence ages of H1 and H3 (~11,000 years) are close to that previously reported for V. These findings have major implications for the origin of Europeans, since they attest that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ~15,000 years ago. 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 A1555G 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. Thus, founder events and genetic drift have played a major role in shaping haplotype frequencies, giving rise to haplogroups and subhaplogroups that are often restricted to specific geographic areas and/or population groups. In Europe, with the exception of U5 and V, which most likely arose in situ, all mtDNA haplogroups (H, I, J, K, T, U2e, U3, U4, X, and W) are most likely of Middle Eastern origin and were introduced by either the protocolonization ~45–40 thousand years ago (kya), by later arrivals in the Middle/Late Upper Paleolithic, Neolithic dispersals, or by more recent contacts (Torroni et al. 1998; Richards et al. 2000). 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. In particular, the early Paleolithic populations of Northern and Central Europe either became extinct or retreated to the south during the Last Glacial Maximum (LGM) ~20 kya, and there was a gradual repeopling from southern refuge areas only when climatic conditions improved, from ~15 kya. This scenario is supported not only by recent work on archaeological dating (Housley et al. 1997; Richards 2003) but also by the phylogeographic evidence provided by mtDNA haplogroup V (Torroni et al. 1998; 2001a) and Y-chromosome haplogroups R1b and I1b2 (Semino et al. 2000; Cinnioğlu et al. 2004; Rootsi et al. 2004).
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. Indeed, it is by far the most prevalent haplogroup in all European populations except the Saami, is very common in North Africa and the Middle East, and retains frequencies of 5%–10% even in northern India and Central Asia, at the edges of its distribution range (Richards et al. 2002).
Previous studies have proposed that haplogroup H (i) originated in the Middle East ~30–25 kya; (ii) expanded into Europe in association with a second Paleolithic wave, possibly contemporary with the diffusion of the Gravettian technology (25–20 kya); and (iii) was strongly involved in the late-glacial expansions from ice-age refugia after the LGM (Torroni et al. 1998; Richards et al. 2000). 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. 2002) allowing for the identification of 11 subclades (H1–H11) (Quintáns et al. 2004; Loogväli et al. 2004), the phylogeography of which has been evaluated only in rare instances (Tambets et al. 2004). 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........
Table 1
Population Distribution and Frequencies of Haplogroup H, H1, and H3 mtDNAs
The results of this survey are reported in table 1 and are illustrated in the spatial distribution of figure 3. Subhaplogroup H1 turned out to encompass a large proportion of H in the western part of its distribution range. It has a frequency peak among the Basques of Spain (27.8%) and very high frequencies in the rest of Iberia (17.7%–24.3%), Morocco (19.2%), and Sardinia (17.9%). The spatial pattern depicted in figure 3 appears to indicate the presence of an overall gradient for H1, with a peak centered at the most southwestern edge of Europe and in Morocco and declining frequencies towards both the northeast and southeast.
Figure 3
Spatial frequency distributions of subhaplogroups H1 and H3. Frequency values are from table 1. Maps were obtained as in figure 2.
Compared to H1, subhaplogroup H3 represents a much smaller fraction of H (table 1). However, its highest frequencies are found among the Basques of Spain (13.9%), in Galicia (8.3%), and, again, in Sardinia (8.5%)—in other words, in the same areas where H1 is also most frequent.
The frequency decline of both H1 and H3 from their peaks centered in southwestern Europe is not completely uniform, but a few intermediate local peaks are also observed. Both Austria and Estonia harbor peaks for haplogroup H1 (14.4% and 16.7%, respectively), whereas a local maximum of H3 is observed in Hungary (6.2%). Some intermediate peaks are indeed expected, as a result of random genetic drift. However, in some instances, these could also indicate a more direct genetic link of the populations living in these areas with those of southwestern Europe than with their current surrounding neighbors.
Thus, although the frequency distribution of haplogroup H overall in Europe is rather uniform (fig. 2), those of H1 and H3 harbor clear-cut patterns, with peaks both centered in Iberia and surrounding areas. We noted with great interest that such frequency patterns are extremely similar to that previously described for haplogroup V, an autochthonous European haplogroup, which most likely originated in the northern Iberian Peninsula or southwestern France at about the time of the Younger Dryas (Torroni et al. 1998, 2001a; Richards 2003). The distribution of haplogroup V was attributed to a major Paleolithic/Mesolithic population expansion from southwestern Europe, which occurred 13–10 kya and eventually carried those mtDNAs into Central and Northern Europe following the postglacial improvement of the climate conditions..........
In conclusion, our analysis of complete mtDNA sequences reveals that haplogroup H, the most common haplogroup in western Eurasia, can be subdivided into numerous sister clades. Among these, two—H1 and H3—were particularly common in our sample of H sequences, suggesting that a phylogeographic study focusing on the two subhaplogroups could be particularly informative. Indeed, the survey of a wide range of western Eurasian and North African populations revealed that, in contrast to haplogroup H as a whole, which harbors a rather uniform frequency within Europe, both subhaplogroups H1 and H3 are characterized by frequency peaks centered in Iberia and surrounding areas and by declining distributions toward the northeast and southeast. This pattern is extremely similar to that previously reported for mtDNA haplogroup V. However, not only the frequency distributions of H1, H3, and V resemble each other; also, the coalescence ages of H1 and H3 are close to that of V. Thus, it is now clear that the scenario proposed to explain the age and distribution of haplogroup V can be directly transposed to subhaplogroups H1 and H3. This suggests that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ~15 kya. This picture, now supported by three of the clades of the mtDNA phylogeny, is also in perfect agreement with the synthetic map of the second principal component of variation in 95 classical genetic markers (Cavalli-Sforza et al. 1994), and the distributions of the Y-chromosome haplogroups R1b and I1b2 (Semino et al. 2000; Rootsi et al. 2004).
Hap H traces to France it is also prominent among Royals. I couldn't account for some countries in my research like Estonia, Hungary, or Galacia. I have a blood type of O- thar is found among Basque and Native Americans. This I did find in this paper on H
Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976717/
American Journal of Human Genetics
American Society of Human Genetics
The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool
Alessandro Achilli, Chiara Rengo, [...], and Antonio Torroni
Additional article information
Abstract
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 5,743 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. Furthermore, the coalescence ages of H1 and H3 (~11,000 years) are close to that previously reported for V. These findings have major implications for the origin of Europeans, since they attest that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ~15,000 years ago. 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 A1555G 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. Thus, founder events and genetic drift have played a major role in shaping haplotype frequencies, giving rise to haplogroups and subhaplogroups that are often restricted to specific geographic areas and/or population groups. In Europe, with the exception of U5 and V, which most likely arose in situ, all mtDNA haplogroups (H, I, J, K, T, U2e, U3, U4, X, and W) are most likely of Middle Eastern origin and were introduced by either the protocolonization ~45–40 thousand years ago (kya), by later arrivals in the Middle/Late Upper Paleolithic, Neolithic dispersals, or by more recent contacts (Torroni et al. 1998; Richards et al. 2000). 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. In particular, the early Paleolithic populations of Northern and Central Europe either became extinct or retreated to the south during the Last Glacial Maximum (LGM) ~20 kya, and there was a gradual repeopling from southern refuge areas only when climatic conditions improved, from ~15 kya. This scenario is supported not only by recent work on archaeological dating (Housley et al. 1997; Richards 2003) but also by the phylogeographic evidence provided by mtDNA haplogroup V (Torroni et al. 1998; 2001a) and Y-chromosome haplogroups R1b and I1b2 (Semino et al. 2000; Cinnioğlu et al. 2004; Rootsi et al. 2004).
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. Indeed, it is by far the most prevalent haplogroup in all European populations except the Saami, is very common in North Africa and the Middle East, and retains frequencies of 5%–10% even in northern India and Central Asia, at the edges of its distribution range (Richards et al. 2002).
Previous studies have proposed that haplogroup H (i) originated in the Middle East ~30–25 kya; (ii) expanded into Europe in association with a second Paleolithic wave, possibly contemporary with the diffusion of the Gravettian technology (25–20 kya); and (iii) was strongly involved in the late-glacial expansions from ice-age refugia after the LGM (Torroni et al. 1998; Richards et al. 2000). 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. 2002) allowing for the identification of 11 subclades (H1–H11) (Quintáns et al. 2004; Loogväli et al. 2004), the phylogeography of which has been evaluated only in rare instances (Tambets et al. 2004). 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........
Table 1
Population Distribution and Frequencies of Haplogroup H, H1, and H3 mtDNAs
The results of this survey are reported in table 1 and are illustrated in the spatial distribution of figure 3. Subhaplogroup H1 turned out to encompass a large proportion of H in the western part of its distribution range. It has a frequency peak among the Basques of Spain (27.8%) and very high frequencies in the rest of Iberia (17.7%–24.3%), Morocco (19.2%), and Sardinia (17.9%). The spatial pattern depicted in figure 3 appears to indicate the presence of an overall gradient for H1, with a peak centered at the most southwestern edge of Europe and in Morocco and declining frequencies towards both the northeast and southeast.
Figure 3
Spatial frequency distributions of subhaplogroups H1 and H3. Frequency values are from table 1. Maps were obtained as in figure 2.
Compared to H1, subhaplogroup H3 represents a much smaller fraction of H (table 1). However, its highest frequencies are found among the Basques of Spain (13.9%), in Galicia (8.3%), and, again, in Sardinia (8.5%)—in other words, in the same areas where H1 is also most frequent.
The frequency decline of both H1 and H3 from their peaks centered in southwestern Europe is not completely uniform, but a few intermediate local peaks are also observed. Both Austria and Estonia harbor peaks for haplogroup H1 (14.4% and 16.7%, respectively), whereas a local maximum of H3 is observed in Hungary (6.2%). Some intermediate peaks are indeed expected, as a result of random genetic drift. However, in some instances, these could also indicate a more direct genetic link of the populations living in these areas with those of southwestern Europe than with their current surrounding neighbors.
Thus, although the frequency distribution of haplogroup H overall in Europe is rather uniform (fig. 2), those of H1 and H3 harbor clear-cut patterns, with peaks both centered in Iberia and surrounding areas. We noted with great interest that such frequency patterns are extremely similar to that previously described for haplogroup V, an autochthonous European haplogroup, which most likely originated in the northern Iberian Peninsula or southwestern France at about the time of the Younger Dryas (Torroni et al. 1998, 2001a; Richards 2003). The distribution of haplogroup V was attributed to a major Paleolithic/Mesolithic population expansion from southwestern Europe, which occurred 13–10 kya and eventually carried those mtDNAs into Central and Northern Europe following the postglacial improvement of the climate conditions..........
In conclusion, our analysis of complete mtDNA sequences reveals that haplogroup H, the most common haplogroup in western Eurasia, can be subdivided into numerous sister clades. Among these, two—H1 and H3—were particularly common in our sample of H sequences, suggesting that a phylogeographic study focusing on the two subhaplogroups could be particularly informative. Indeed, the survey of a wide range of western Eurasian and North African populations revealed that, in contrast to haplogroup H as a whole, which harbors a rather uniform frequency within Europe, both subhaplogroups H1 and H3 are characterized by frequency peaks centered in Iberia and surrounding areas and by declining distributions toward the northeast and southeast. This pattern is extremely similar to that previously reported for mtDNA haplogroup V. However, not only the frequency distributions of H1, H3, and V resemble each other; also, the coalescence ages of H1 and H3 are close to that of V. Thus, it is now clear that the scenario proposed to explain the age and distribution of haplogroup V can be directly transposed to subhaplogroups H1 and H3. This suggests that the Franco-Cantabrian refuge area was indeed the source of late-glacial expansions of hunter-gatherers that repopulated much of Central and Northern Europe from ~15 kya. This picture, now supported by three of the clades of the mtDNA phylogeny, is also in perfect agreement with the synthetic map of the second principal component of variation in 95 classical genetic markers (Cavalli-Sforza et al. 1994), and the distributions of the Y-chromosome haplogroups R1b and I1b2 (Semino et al. 2000; Rootsi et al. 2004).