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Matriarchs: mtDNA

Matriarchs: mtDNA
See also:
Map of WorldWide MtDNA (scroll down)

Contents:
1. General Introduction
2. British mtDNA
3. Jewish mtDNA
(i) Ashkenazi mtDNA
The AMOVA phenomenon
(ii) Ashkenazi Compared with General European?
4. mtDNA of Afro-Americans
5. Finnish mtDNA haplogroups
6. European mtDNA Patterns?

1. General Introduction



mtDNA

Look at the Diagram above:
Conventional accounts say that mtDNA origins were in Africa.

Africa
L1, L2, and L3 are all from Sub-Saharan Africa.
Haplogroup L1 is found in West and Central sub-Saharan Africa. It is especially common among the Khoisan [Bushmen] people.
All existing human haplogroups are descended from haplogroup L1.
Among these descendants are the African haplogroups L2 and L3, the latter of which gave rise to all non-African haplogroups.

Haplogroup L2 is present in approximately one third of all people in sub-Saharan Africa. L2 has four main subgroups: L2a, L2b, L2c, and L2d.
The most common L2 subgroup, L2a, is also the most common haplogroup among African Americans.

Haplogroup L3 is most common in East Africa.
However, L3 is also the haplogroup from which the macro-haplogroups M and N are believed to have arisen. These two haplogroups are ancestral to all haplogroups outside Africa.

Asia
L3 (East Africa) gave rise to both M and N.
Haplogroup M does not correspond well to present-day racial groups, as it spans Mongoloid, South Asian Caucasoid and Paleoindian, as well as Ethiopid and various Caucasoid groups in lesser frequency.
M1 subbranch
The M1 variant haplogroup is found in the Near East and the Caucasus, and is the only M branch to be found in sub-Saharan Africa.
M1 could be a branch of the Indian cluster M as ancestral motifs of the African M1 are found in M*, M3 and M4 Indian subclusters. Furthermore, one of the most derived M3 haplotypes in India has all the basic substitutions that defined the Ethiopian clade... This supposed Indian expansion to the west also reached northern areas since evolved representatives of M4 have been also detected in Central Asia.

"Y-haplogroup L is common (around 15%) in India (in particular the South) and in Pakistan (ca.10-15%), although it appears at low frequencies (2-4%) also in the Northern part of the Middle East (Iran, Turkey, Armenia, Kurdistan, but apparently not so much among the Arabs) and possibly in Central Asia (Tajikistan and Uzbekistan). "
L in India and M in Africa indicate a later movement between Africa and India.
Among the subgroups of M are M*, M1, C, D, E, G, and Z.

Haplogroup C is found in Northeast Asia (including Siberia) and is also one of five haplogroups found in the indigenous peoples of the Americas, the others being A, B, D, and X.

Haplogroup Z has its greatest variety in Korea, northern China, and Central Asia. However, its greatest frequency appears in Russia and among the Saami people of northern Scandinavia.

Q is found in the southern Pacific region, especially in New Guinea and Melanesia.
Haplogroup Q3 is also found amongst Amerindians and Ashkenazic Jews, Hungarians (3%) .
Haplogroup D is found in Northeast Asia (including Siberia) and is also one of five haplogroups found in the indigenous peoples of the Americas.

We saw that from East African L3 split into M and N.
M is mostly Asian.
Typically Asian clusters include offshoots of N such as A, B, F.
Eurasian
Most offshoots of N are European or Eurasian.
An exception is A.
Haplogroup A is found throughout modern Asia. Its subgroup A1 is found in northern and central Asia, while its subgroup A2 is found in Siberia and is also one of five haplogroups found in the indigenous peoples of the Americas.



NmtDNA

Look at the Diagram above:
In the first line of direct derivatives from N:
A is Asian, the rest are mainly European with N1 and N2 being found in the Near East..
N1a is traceable in inhabitants of Eurasia, particularly those of Iran and some Indian territories.
N1b found in Near and Middle East also amongst the Ashkenazi Jews.
W, I and N1b, form a cluster and 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.
Haplogroup W appears in the western Ural Mountains and the eastern Baltic, though it is also found in India.
Haplogroup I is found throughout Europe, and also in Egypt and Arabia.
X is found in Caucasus Mountains, Central Asia, and (together with the Asian A group) in the Americas. X is similar to the Asian A.
"Overall haplogroup X accounts for about 2% of the population of Europe, the Near East and North Africa. Sub-group X1 is much the less numerous, and restricted to North and East Africa, and also the Near East. Sub-group X2 ... is more strongly present in the Near East, the Caucasus, and Mediterranean Europe; and somewhat less strongly present in the rest of Europe. Particular concentrations appear in Georgia (8%), the Orkney Islands (7%) and amongst the Israeli Druze (26%); the latter are presumably due to a founder effect."

Native American: A, B, C, D, and sometimes X
C and D are subdivisions of M, A and B are subdivisions of N.
X is found in about 3% of Native Americans.
"It is found with particular prevalence in the Ojibwa (25%) from the Great Lakes, the Sioux (15%), the Nuu-Chah-Nulth (11%–13%), the Navajo (7%), and the Yakima (5%)."

Haplogroup X is also found in "a smattering of living people in Europe and Asia Minor, including Italians, Finns, and certain Israelis. " A small number of people in the Altai region of Siberia are also X but of a type associated with the West and different from that of the Amerindians.

http://www.journals.uchicago.edu/AJHG/journal/issues/
v73n5/40218/40218.text.html

"The results of this study point to the following conclusions.
"First, haplogroup X variation is completely captured by two ancient clades that display distinctive phylogeographic patternsX1 is largely restricted to North and East Africa, whereas X2 is spread widely throughout West Eurasia. Second, it is apparent that the Native American haplogroup X mtDNAs derive from X2 by a unique combination of five mutations. Third, the few Altaian (Derenko et al. 2001) and Siberian haplogroup X lineages are not related to the Native American cluster, and they are more likely explained by recent gene flow from Europe or from West Asia."



Y is found in Eastern Asia.
Haplogroup B is found throughout modern Asia. Its subgroup B2 is one of five haplogroups found in the indigeneous peoples of the Americas, the others being A, C, D, and X.

Haplogroup B is found among Southern Siberians such as Tuvans and Buryat. This haplogroup is also found in Mongolians and population of Central China.

Haplogroup F is centered in Asia and appears in eastern China and Japan.

J ("Jasmine" in Brian Sykes terminology) is found at low levels throughout Europe. Believed to have originated in the Middle East.
Haplogroup J1b is found distributed in the Near East and southern Iberia, and may have been part of the original colonization wave of Neolithic settlers moving around the Mediterranean 6000 years ago or perhaps a lineage of Phoenician traders. Within haplogroup J1b, a derivative lineage haplogroup J1b1 has been found in Britain and another sub-lineage detected in Italy.

T is similar to J.
T, found all over Europe and Middle East, common in British Isles, and makes up 22% of Russia/Eastern Europe. T or Tara as Oxford Ancestors puts it, is found in Ireland frequently, but lived in Tuscany 25,000 years ago and in the Arabian Peninsula. T is divided into T1, T2, etc. Also a sister to JT, found in Syria, Russia, and Europe.
There 4 main European clusters:
WIX, TJ, UK, and HV.
We spoke of WIX and TJ above.

K is another form of U
Haplogroup U is almost specific to Europeans, and it is found only at a low frequency in the Japanese, the North African Berber population, the Ethiopians and the Senegalese.
Cluster U radiated out. Three sub-haplogroups, U2, U5 and U6 had their major expansions in India, Europe and North Africa respectively. U2 is scattered from Western Europe to Mongolia but has not been detected in North Africa. The main radiation of haplogroup U5 occurred in Europe.
U6 mostly found in Northwest Africa.
U3 has also been found with a comparatively higher frequency in Northwest Africa.

HV derived from U.
Pre-HV was the precursor of HV.
Haplogroup pre-HV is widely represented in the Middle East and parts of eastern Africa.

HV is more frequent in Western Europe and is believed to have originated there.
Haplogroup H is the most frequent haplogroup in both Europe and the Near East but occurs at frequencies of only 25%­30% in the Near East and the Caucasus, whereas the frequency is generally 50% in European populations and reaches a maximum of 60% in the Basque country. Haplogroups (pre-HV)1 and U1 are predominantly Near Eastern, with some (probably recent) gene flow along the Mediterranean, and haplogroups U5 and pre-V are predominantly European.
A few U1a in the Middle East (e.g. 3/20 among Yemenite Jews, 2/20 among Palestinians).

"V reaches high frequencies in some Iberian [Spanish] populations and is also very common among the Berbers of North Africa, but showed its highest frequencies (about 41%) among the Saami [Lapps of Scandinavia]"

"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."

Map of WorldWide MtDNA (scroll down)

2. British mtDNA
"MtDNA Markers for Celtic and Germanic
Language Areas in the British Isles"

Peter Forster, Valentino Romano, Francesco Call,
Arne Rohl & Matthew Hurles

<<Mitochondrial DNA variation in Europe is classified variation in Europe is classified into major types, which are labeled as H, U, K, T, J, V, I, W, and X types as originally proposed by Torroni et al. (1996). At about 50 per cent, type H is by far the most frequent in Europeans, while the other mtDNA types amount to approximately zero to 15 per cent each, depending on the region. Incidentally, a comparison with current mtDNA diversity in surrounding potential source areas (e.g. Richards et al. 1996; 2000) suggests that each of these nine types was carried into Europe, rather than arising by mutation within Europe.
 
<<The first European mtDNA candidate for a language marker seems to have been discovered by Richards et al. in 1996. What is now known as mitochondrial type J (around 10 per cent of European mtDNA, depending on the region) contains several subtypes which show some linguistic specificity, especially within the British Isles.
 
<<In historical times, the Brythonic branch of Celtic was spoken in Cornwall, Wales and Brittany, while the Goidelic branch of Celtic was spoken in Ireland, Highland Scotland and the Isle of Man.

Percentages:
J/16231 (Germanic) England 3, Denmark 2, Iceland 1, Norway 5, North Germany 4, Mainland Scotland 4, Wales, Cornwall, North and West Scotland 0, Belfast 0,  Wales 0  Ireland 0.

Brit-Am: We see from above  that though found at low percentages J16231 is specific to Germanic-speaking areas apart from Mainland Scotland at 4 which is actually as high as anywhere else except for Norway.



J18192 England  0 Denmark 0 West Ireland 0 Iceland 12 Norway 5 North Germany 0 Wales 2 Cornwall 0  North and West  Scotland  10 Mainland Scotland 16 Belfast 1

Brit-Am: We see from above  that though found at low percentages J18192 is specific to British-Celtic areas.
Iceland (12) and Norway (5) are high and this has been attributed to captured women from British areas.
We would however disagree (the percentages are too high compared to the target areas) and pointing to the higher percentages of  North and West  Scotland (10) Mainland Scotland (16) we would propose a strong British-type "Celtic" element to have been present in Ancient Scandinavia.


J16172 England  0 Denmark 0 West Ireland 0 Iceland 18 Norway 9 North Germany 0 Wales 3 Cornwall 2  North and West  Scotland  11 Mainland Scotland 22

Brit-Am:The above results complement those above for J18192. They show a very strong peculiar J element amongst the British Celts and their Scandinavian cousins that leaped over the English and company.


There are other J types such as J16192 and J16192 found  at low but significant  frequencies in Mediterranean areas especially Spain and the Middle East and almost equally so in British "Celtic" areas but not in  the rest of Europe.
 
<<In historical times, the Brythonic branch of Celtic was spoken in Cornwall, Wales and Brittany, while the Goidelic branch of Celtic was spoken in Ireland, Highland Scotland and the Isle of Man.

<<The most clear-cut Germanic mtDNA type within group J is type J/ 16231. Within the British Isles, J/ 16231 has been found so far only in traditionally English-speaking areas of England and mainland Scotland, and on the European continent J/ 16231 is found predominantly in and around Germanic-speaking areas in central and northwestern Europe. The mixed Scottish mainland sample consists of both English-speaking and formerly Celtic-speaking areas and thus predictably has both the 'Germanic' and the 'Celtic' J types>>
 
<<The Low-German-speaking ('Saxon') areas of the North German Plain harbour a 'Saxon' mtDNA marker H/16189 at about 25 per cent (16/61, updated from Richards et al. 1995..)  [it] is rare in England where there is a frequency of only 3.5 per cent..
<<This low proportion indicates a contribution of zero to maximally 25 per cent of north German women to the native population of England..>>
<<...other potentially Germanic tribes contributing women to the current English mitochondrial DNA pool may have to be considered, such as Jutes,
 
<<Germans living close to the Dutch border harbour a low percentage of the Saxon marker
about as low as the English value of 3.5 per cent...>>

Brit-Am: Conclusions:  The British "Celts" were distinct from European populations.
There was an element (at present noticed mainly by Brit-Am and occasionally hinted at by others)
amongst the British Celts and especially strong in Scotland that also existed in Scandinavia
and nowhere else.
The Anglo-Saxons who invaded England had some commonality with other German speaking
populations but were quite different in origin from the present inhabitants of North Germany
but similar perhaps to Germans on the Dutch border.

N1a, as well as K and J in both ancient British, Iberian and Basque groups) are found in much lower frequencies in the same regions today.

Multiple mtDNA links between Ireland and Britain, particularly Scotland

European mtDNA
Map
Britain: H 55 J 15 T 7 U 7 K 3
Most of Western Europe appears to be the same, with minor variations e.g. H 65 in Spain.

mtDNA of Australians
http://dienekes.blogspot.com/2006/07/mtdna-of-australians.html
Intern Med J. 2006 Aug;36(8):530-3.
Prevalence of mitochondrial DNA haplogroups in an Australian population.
Manwaring N, Jones MM, Wang JJ, Rochtchina E, Mitchell P, Sue CM.
"Approximately 94.2% of samples could be assigned to one of the nine major European haplogroups, whereas a further 1.2% included the African (L) and Asian (M) superhaplogroups. The five principal haplogroups represented were H (42.9%), U (14.1%), J (10.7%), T (9.2%) and K (8.1%), which together included 85% of this population."

3. Jewish mtDNA
(1) Ashkenazi Jewish DNA
Prevalent Ashkenazi Hgs were K (32%), H (21%), N1b (10%), and J1 (7%), followed by other Hgs at minor frequencies.

From: "Annie, The WritingTeacher" writingteacher7@hotmail.com
Where did the women come from?
Ashkenazi mtDNA is close to Moroccan Jewish mtDNA

In the book, Genetic Diversity Among Jews by Batsheva Bonn-Temir and Avinoam Adam, Oxford University Press, 1992, chapter 4 is titled Types of Mitochondrial DNA among Jews.

The overall variability of mtDNA types of these women was smaller among Jews than among the Caucasian population as a whole, Asians, Australians, or Africans. Variability is highest in Africans, lower in Jews. But some populations have mtDNA heterogeneity values even lower than Jews, such as Native Americans (Amerindians) or Finnish women.

The study found that the largest number of different mtDNA types (14 different types) were in Ashkenazic Jews. Ethiopian Jews were different from all the other Jewish groups. So there might have been an African contribution to the Ethiopian Jewish mtDNA pool.

Ashkenazic mtDNA is close to Moroccan Jewish mtDNA.
Anne Hart
DNA books and articles at:
http://www.newswriting.net
Four Jewish Mothers?
"MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population"
Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, Richards M, Gurwitz D, Rosengarten D, Kaplan M, Della Pergola S, Quintana-Murci L, Skorecki K.
http://www.familytreedna.com/pdf/Behar%202004%20mtDNA.pdf#search=%22Behar%20mtDNA%22
Behar says that Ashkenazic mtDNA according to his study are K (32%), H (21%), n1b (10%), J1 (7%), and others.
K is low amongst non-Jews (-6%) except for Druze (16%).
There are four main mtDNA sub-divisions (haplotypes) of K amongst Jews.
They are all almost unique to Jews and not found elsewhere though one (representing 33% of the total) is very similar to a type found at low to-moderate frequency amongst non-Jews in both Europe and the Near East.
In addition the mt haplogoup H findings show unique characteristics amongst Jews not found amongst non-Jews.
Behar proposes a "bottleneck" in Ashkenazic populations, i.e. a largish population experiences sudden extreme population decline followed by renewed growth.  This resulted in "Almost half of Europe's Jews ..[being] descended from just four women who lived 1,000 years ago".
"Brit-Am Now"-657Now
#3. DNA Four Mothers of Present Day European Jews?

Eur J Hum Genet. 2004 May;12(5):355-64.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=14722586&dopt=Abstract
MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population.

The AMOVA Phenomenon
Behar states that AMOVA analysis associates the "four mothers" with the Near East.
<<As the name suggests Analysis of Molecular Variance (AMOVA) is a method for studying molecular variation within a species.>>
In plain language, as we understand it, it more or less means the structural formation of the DNA as distinct from the Coded substance of the DNA.
This is inherited and is regionally specific, e.g.
http://hmg.oxfordjournals.org/cgi/content/abstract/5/7/1029
There is Middle East type AMOVA and European type etc and these types cut across haplogroup distinctions.

The AMOVA phenomenon in effect  proves that the environment  makes the initial changes in DNA and heredity then transmits them!
Returning to Behar:
Extract from ABSTRACT:
"MtDNA evidence for a genetic bottleneck in the early history of the Ashkenazi Jewish population"
Behar DM, Hammer MF, Garrigan D, Villems R, Bonne-Tamir B, Richards M, Gurwitz D, Rosengarten D, Kaplan M, Della Pergola S, Quintana-Murci L, Skorecki K.


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. ....Only four mtDNA haplogroups (Hgs) .....account for approximately 70% of Ashkenazi mtDNA variation. While several Ashkenazi Jewish mtDNA Hgs appear to derive from the Near East, there is also evidence for a low level of introgression from host European non-Jewish populations. HVS-1 sequence analysis revealed increased frequencies of Ashkenazi Jewish haplotypes that are rare or absent in other populations, and a reduced number of singletons in the Ashkenazi Jewish sample. These diversity patterns provide evidence for a prolonged period of low effective size in the history of the Ashkenazi population. The data best fit a model of an early bottleneck (approximately 100 generations ago), perhaps corresponding to initial migrations of ancestral Ashkenazim in the Near East or to Europe. A genetic bottleneck followed by the recent phenomenon of rapid population growth are likely to have produced the conditions that led to the high frequency of many genetic disease alleles in the Ashkenazi population.
(ii) Ashkenazi Compared with General European?
European and Near Eastern mt DNA in general is pretty much the same. Regional differences must be sought in terms of relative percentages which are not all that great rather than in absolute terms.
K (32% of Jews) like Middle Eastern pre-HV may be considered a form of H (21% in Jews, more than 60% in Ireland) such that Ashekenazi mtDNA is not so different from general European apart from an apparent lack of mtT (ca 22% in Russia, 9% in Ireland) amongst the Ashkenazis. T however is considered a "sister" to J (ca 7% in Ireland and also 7% amongst Ashkenazis).
4. mtDNA of Afro-Americans
Approximately 1/3 of African American men tested have a European Y-chromosome, yet only 2% of African Americans (and Caribbean-British) have European mtDNA.

5.Finnish mtDNA haplogroups
Quotation:

Geographical and cultural isolation has greatly shaped the Finnish gene pool towards homogeneity, as can be seen, for example, in certain recessive diseases which are infrequent elsewhere (Norio et al. 1973).

A clear West Eurasian pattern of polymorphisms has been detected in mtDNA (Vilkki et al. 1988, Pult et al. 1994, Sajantila et al. 1996, Torroni et al. 1996, Herrnstadt et al. 2002), with about 40% of the Finns belonging to mtDNA haplogroup H, which is also common among other Europeans but rare among Asians (Torroni et al. 1996, Richards et al. 1998, Wallace et al. 1999). Other common European haplogroups among the Finns include U, with a frequency of 16-28%, J, 4.5-14%, W, 4.1-9.2%, and T, 2.5-6.1%. The remaining European haplogroups, I, K, V and X, are less common, as in other parts of Europe, each with frequency below 5.5% in both studies. (Torroni et al. 1996, Meinil i>et al. 2001.) There is variation in the frequencies of the haplogroups between different parts of Finland, however, haplogroup U, for example, to be found with frequencies of 16% and 28% in samples from southern and northern Finland, respectively (Torroni et al. 1996, Meinil i>et al. 2001).

Previous data have shown a high frequency of Asian Y chromosome haplotypes in the Finns and Saami (Zerjal et al. 1997). The presence of haplogroup Z in these populations evidently indicates that traces of Asian mtDNA genotypes have survived in them, but the discrepancy between the high frequency of Asian-specific haplotypes on the Y chromosome and the rarity of Asian-specific mtDNA haplotypes may suggest that the Y chromosome and mtDNA are subject to differential drifting that has led to an almost complete loss of Asian-specific mtDNA haplotypes (Meinil i>et al. 2001). The mtDNA haplotypes among the Finns may therefore suggest European pattern, the frequencies of which have been modulated during the long period of genetic isolation.

6. European mtDNA Patterns?
http://www.pubmedcentral.gov/articlerender.fcgi?artid=385092
Am J Hum Genet. November 2002; 71(5): 11681174.
In Search of Geographical Patterns in European Mitochondrial DNA

Martin Richards,1 Vincent Macaulay,2 Antonio Torroni,3 and Hans-Jrgen Bandelt4

Previous studies of mitochondrial DNA (mtDNA) in Europe and the Near East have suggested that, in contrast with classical markers and the Y chromosome, mtDNA does not exhibit significant geographical structuring.

Using data mainly from northern and western Europe, Helgason et al. (2001) showed that northwestern, central, western, and northeastern European populations could be separated by multidimensional scaling. In a comparison of three genetic marker systems, Wilson et al. (2001) showed that northwestern Europeans could be clearly distinguished from both Basques and Near Easterners on the basis of both mtDNA and X chromosome microsatellites. In contrast, Y chromosome markers showed a different pattern, in which western European populations clustered together, distinct from both Scandinavians on the one hand and Near Easterners on the other.

Iraq falls at one pole, southwestern Europe (the Basque country) at the other. The North Caucasus falls within the Near Eastern groups. This component thus provides us with a strong geographical pattern, which is indeed approximately southeast-northwest, as one might expect from the pattern of classical markers (Cavalli-Sforza et al. 1994). The Near Easterners form a clear group, distinct from Europeans. The central and eastern Mediterranean populations of Europe, along with southeastern Europe, although positioned more closely to the other European populations, also show affinities with the Near East, but western Mediterranean Europe clusters with central and northern Europe.

Haplogroup H is the most frequent haplogroup in both Europe and the Near East but occurs at frequencies of only 25%30% in the Near East and the Caucasus, whereas the frequency is generally 50% in European populations and reaches a maximum of 60% in the Basque country. Haplogroups (pre-HV)1 and U1 are predominantly Near Eastern, with some (probably recent) gene flow along the Mediterranean, and haplogroups U5 and pre-V are predominantly European.
See also:
Human mitochondrial DNA haplogroups
mtDNA Haplogroups: Maternal Ancestral Inheritance





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