Peričic et al. (2005)

From Haplowiki

Jump to: navigation, search

Peričic et al. (2005)

"High-resolution phylogenetic analysis of southeastern Europe traces major episodes of paternal gene flow among Slavic populations"

Mol. Biol. Evol. 22 (10): 1964–75, doi:10.1093/molbev/msi185, PMID 15944443 http://mbe.oxfordjournals.org/cgi/content/full/22/10/1964


Contents

Authors

Marijana Pericic*,1, Lovorka Barac Lauc*,1, Irena Martinovic Klaric*, Siiri Rootsi{dagger}, Branka Janicijevic*, Igor Rudan{ddagger},§, Rifet Terzic||, Ivanka Colak¶, Ante Kvesic¶, Dan Popovic*, Ana Sijacki#, Ibrahim Behluli**, Dobrivoje Dordevic{dagger}{dagger}, Ljudmila Efremovska{dagger}{dagger}, Dorde D. Bajec#, Branislav D. Stefanovic#, Richard Villems{dagger} and Pavao Rudan*

* Institute for Anthropological Research, Amruseva 8, 10000 Zagreb, Croatia; {dagger} Estonian Biocentre, University of Tartu, Tartu, Estonia; {ddagger} School of Public Health Andrija Stampar, University of Zagreb Medical School, Zagreb, Croatia; § University of Edinburgh Medical School, Edinburgh, Scotland; || Medical Faculty, University of Tuzla, Tuzla, Bosnia and Herzegovina; ¶ Clinical Hospital Center "Bijeli Brijeg," Mostar, Bosnia and Herzegovina; # Emergency Unit of Clinical Center of Serbia, Belgrade, Serbia and Montenegro; ** Medical Faculty, University of Prishtina, Prishtina, Kosovo; and {dagger}{dagger} Medical Faculty, University of Skopje, Skopje, Macedonia

E-mail: mpericic@luka.inantro.hr

Abstract

The extent and nature of southeastern Europe (SEE) paternal genetic contribution to the European genetic landscape were explored based on a high-resolution Y chromosome analysis involving 681 males from seven populations in the region. Paternal lineages present in SEE were compared with previously published data from 81 western Eurasian populations and 5,017 Y chromosome samples. The finding that five major haplogroups (E3b1, I1b* (xM26), J2, R1a, and R1b) comprise more than 70% of SEE total genetic variation is consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European, and particularly Slavic, paternal genetic heritage. Contemporary Slavic paternal gene pool, mostly characterized by the predominance of R1a and I1b* (xM26) and scarcity of E3b1 lineages, is a result of two major prehistoric gene flows with opposite directions: the post-Last Glacial Maximum R1a expansion from east to west, the Younger Dryas-Holocene I1b* (xM26) diffusion out of SEE in addition to subsequent R1a and I1b* (xM26) putative gene flows between eastern Europe and SEE, and a rather weak extent of E3b1 diffusion toward regions nowadays occupied by Slavic-speaking populations.

Haplowiki Comment

Although this paper did not type for V13, they did look for the STR markers of the alpha cluster which is approximately equivalent. This is one of the more important papers concerning Balkan E-V13.

It is worth quoting at length...

Haplogroup E3b1-M78 is the second most prevailing one (23%) in the studied sample with E3b1-M78 chromosomes accounting for almost all E representatives (98%) except a single E3b2-M81 and two E3b3-M123 chromosomes (fig. 2). E3b1-M78 is the most common haplogroup E lineage in Europe (Cruciani et al. 2004; Semino et al. 2004). The spatial pattern shown in figure 4(C) depicts a nonuniform E3b1 geographic distribution with a frequency peak centered in south Europe and SEE (13%–16% in southern Italians and 17%–27% in the Balkans). Declining frequencies are evident toward western (10% in northern and central Italians), central, and eastern Europe (from 4% to 10% in Polish, Russians, mainland Croatians, Ukrainians, Hungarians, Herzegovinians, and Bosnians). Noteworthy is a low E3b1 frequency (5%) in Turkey. Apart from its presence in Europe and the Middle East, E3b1 is also found in eastern and northern Africa. Cruciani et al. (2004) estimated that E3b-M78 might have originated in eastern Africa about 23.2 KYA (95% confidence interval [CI] 21.1–25.4). Although present level of phylogenetic resolution does not allow further subdivision of this haplogroup by binary markers, based on strong geographic structuring of diverse microsatellite motifs, E3b-M78 is suggested to be a collection of subclades with different evolutionary histories (Cruciani et al. 2004; Semino et al. 2004) out of which the {alpha} cluster, largely characterized by an A7.1 nine-repeat allele, is confined to Europe (the Balkans) and Turkey (Cruciani et al. 2004). E3b1 variance distribution depicted in figure 4(D) does not overlap with its frequency distribution possibly because analyzed E3b1 chromosomes harbor diverse background motifs. It is very likely that a variance peak centered in northeastern Africa as well as high variance values in Turkey and southern Italy are due to the inclusion of {delta} (and a few southern Italian ß) chromosomes. Almost 93% of SEE E3b1 chromosomes are classified into {alpha} cluster. In Europe, the highest E3b1{alpha} variance is among Apulians, Greeks, and Macedonians, and the highest frequency of the cluster is among Albanians, Macedonians, and Greeks (table 1). Bearing in mind the congruent E3b1{alpha} frequency, variance maximums, and star-like phylogenetic network (fig. 8B), it is possible to envision that a yet undefined sublineage downstream of M78, characterized by the nine-repeat allele at A7.1 locus, may have originated in south Europe and SEE from where it dispersed in different directions. Furthermore, it may be envisioned that the observed E3b1{alpha} frequency distribution in Anatolia might stem from a back migration originating in south Europe and SEE. Our estimated range expansion of 7.3 ± 2.8 KYA is close to the 7.8 KYA (95% CI 6.3–9.2 KYA) estimate for expansions of cluster {alpha} chromosomes in Europe reported by Cruciani et al. (2004) and the 6.4 KYA estimate for E3b1-M78 STR variance in Anatolia dated by Cinnioglu et al. (2004). The frequency and variance decline of E3b1 in SEE is rather continuous (fig. 4A and B), with a frequency peak extending from the southeastern edge of the region and a variance peak in southwest. Observed high E3b1 frequency in Kosovar Albanians (46%) and Macedonian Romani (30%) represent a focal rather than a clinal phenomenon resulting most likely from genetic drift. E3b1 frequency and variance are significantly correlated with latitude, showing higher values toward south (table 2), both when all SEE populations are considered (r = –0.51, P = 0.05, for frequency and r = –0.706, P = 0.05, for variance) and when Kosovar Albanians and Macedonian Romani are excluded (r = –0.597, P = 0.05, for frequency and r = –0.676, P = 0.05, for variance). A lower frequency of E3b1 significantly distinguishes populations of the Adriatic-Dinaric complex, i.e., mainland Croatians, Bosnians, and Herzegovinians (7.9%; 95% CI 0.054–0.114), from their neighboring populations of the Vardar-Morava-Danube river system, i.e., Serbians and Macedonians (21.9%; 95% CI 0.166–0.283). These observations hint a mosaic of different E3b1 dispersal modes over a short geographic distance and point to the Vardar-Morava-Danube river system as one of major routes for E3b1, in fact E3b1{alpha}, expansion from south and southeastern to continental Europe. In fact, dispersals of farmers throughout the Vardar-Morava-Danube catchments basin are also evidenced in the archaeological record (Tringham 2000).

Frequency Data

This useful collection of frequency data combined new data with data from older studies...

Population Language Family N E3b1-M78 95% CR
SlovenianIE (Balto-Slavic)
Croatian (mainland)IE (Balto-Slavic)1085.6d(2.6–11.6)
BosnianIE (Balto-Slavic)6910.1d(5.1–19.5)
HerzegovinianIE (Balto-Slavic)1418.5d(5.0–14.3)
SerbianIE (Balto-Slavic)11320.4d(14.0–28.7)
MacedonianIE (Balto-Slavic)7924.1d(16.0–34.6)
Macedonian (Greek)IE (Greek)5918.6g(10.8–30.4)
Macedonian RomaniIE (Indo-Iranian)5729.8d(19.5–42.7)
Albanian (Kosovar)IE (Albanian)11445.6d(36.8–54.8)
AlbanianIE (Albanian)6327.0gh(17.6–39.1)
GreekIE (Greek)8421.4g(14.0–31.4)
CypriotIE (Greek)
BulgarianIE (Balto-Slavic)11620.7h(14.3–29.0)
RomanianIE (Italic)1421.4h(7.8–48.1)
HungarianUralic (Finno-Ugric)537.5g(3.1–17.9)
Czech and SlovakIE (Balto-Slavic)
PolishIE (Balto-Slavic)1373.6gh(1.6–8.3)
ByelorussianIE (Balto-Slavic)
RussianIE (Balto-Slavic)
Russian (Adygea)IE (Balto-Slavic)
Russian (Bashkortostan)IE (Balto-Slavic)
Russian (Belgorod region)IE (Balto-Slavic)
Russian (Cossacks)IE (Balto-Slavic)
Russian (Kostroma region)IE (Balto-Slavic)
Russian (North, Pinega)IE (Balto-Slavic)
Russian (Smolensk region)IE (Balto-Slavic)
UkrainianIE (Balto-Slavic)937.5g(3.7–14.7)
IcelanderIE (Germanic)
SwedishIE (Germanic)
Swedish (Northern)IE (Germanic)
SaamiUralic (Finno-Ugric)
FinnishUralic (Finno-Ugric)
NorwegianIE (Germanic)
DanishIE (Germanic)352.9h(0.7–14.5)
LithuanianIE (Balto-Slavic)
LatvianIE (Balto-Slavic)
EstonianUralic (Finno-Ugric)744.1h(1.5–11.2)
MoldavianIE (Italic)
Moldovan (Erzya)Uralic (Finno-Ugric)
Moldovan (Moksi)Uralic (Finno-Ugric)
Moldovan (Gagauz)Altaic (Turkic)
GeorgianCaucasian (S. Caucasian)
OssetianIE (Indo-Iranian)
ArmenianIE (Armenian)
BritishIE (Germanic)
English (Central)IE (Germanic)
WelshIE (Celtic)
OrcandinIE (Celtic)70h(0.0–31.2)
ScottishIE (Celtic)
IrishIE (Celtic)
FrisianIE (Germanic)
GermanIE (Germanic)
DutchIE (Germanic)
BelgianIE (Germanic)
FrenchIE (Italic)854.7h(1.9–11.5)
BearnaisIE (Italic)434.6gh(0.9–18.3)
SwissIE (German/Italic)
ItalianIE (Italic)
Italian (Calabria)IE (Italic)8016.3g(9.8–25.9)
Italian (Apulia)IE (Italic)8611.6g(6.5–20.1)
Italian (Sardinia)IE (Italic)5063.4gh(2.1–5.3)
Italian (North-central)IE (Italic)21210.4gh(7.0–15.2)
Italian (South)IE (Italic)8711.5h(6.4–19.9)
Italian (Siciliy)IE (Italic)19113.6gh(9.5–19.2)
SpanishIE (Italic)
CatalanIE (Italic)333.0g(0.7–15.3)
AndalusianIE (Italic)1133.5g(1.4–8.7)
Basque (French, Spanish)Basque (Basque)
PortugueseIE (Italic)
Portuguese (South)IE (Italic)
Portuguese (North)IE (Italic)
TurkishAltaic (Turkic)
Anatolian (Central)Altaic (Turkic)616.6h(2.7–15.7)
Turkish (Istanbul)Altaic (Turkic)818.6gh(4.3–16.8)
Turkish (Konya)Altaic (Turkic)11712.8g(8.0–20.1)
Turkish (Cypriot)Altaic (Turkic)4613.0h(6.2–25.7)
Turkish (Southeastern)Altaic (Turkic)244.2h(1.0–20.4)
Turkish (Erzurum)Altaic (Turkic)254.0h(0.9–19.6)
AlgerianAfro-Asiatic (Semitic)326.3g(1.9–20.2)
TunisianAfro-Asiatic (Semitic)5815.5g(8.4–27.0)
MoroccanAfro-Asiatic (Semitic)9327.9g(19.9–37.8)

The notes to this table were...

a R1b haplogroup is defined by M173 (xSRY-1532); data from Rosser et al. (2000), Helgason et al. (2000), Weale et al. (2002), and Wilson et al. (2001) are deducted based on the last typed marker 92R7 (xSRY-1532).

b Rosser et al. (2000).

c Rootsi et al. (2004).

d This study.

e Barac et al. (2003).

f Semino et al. (2000).

g Semino et al. (2004).

h Cruciani et al. (2004).

i Helgason et al. (2000).

j Malaspina et al. (2003).

k Tambets et al. (2004).

l Weale et al. (2002).

m Wilson et al. (2001).

n Cinnioglu et al. (2004)

o Arredi et al. (2004).

STR Data

Here is the dataset related to the article...

MB Population HG DYS393 DYS390 DYS19 DYS391 DYS385a DYS385b DYS389I DYS392 DYS389II
101BosnianE3b1132413101617131130
280BosnianE3b1132413101718131131
8HerzegovinianE3b1132413101618131130
36HerzegovinianE3b1132513101619131127
64HerzegovinianE3b1132413111718131130
105HerzegovinianE3b1132413101618141130
113HerzegovinianE3b1132413101618131129
131HerzegovinianE3b1132413101618131129
134HerzegovinianE3b1132413101618131129
155HerzegovinianE3b1132413101618131129
306HerzegovinianE3b1132414101717131134
356HerzegovinianE3b1132413101618141130
402HerzegovinianE3b1132413111718131129
412HerzegovinianE3b1132414101717131130
1344CCroatian MainlandE3b113251310131130
1944CCroatian MainlandE3b113231311131130
2888CCroatian MainlandE3b113241410131130
4113CCroatian MainlandE3b113251310131130
4195CCroatian MainlandE3b113251310131130
5050CCroatian MainlandE3b113241311131130
7Kosovar AlbaniansE3b1122413101420131130
17Kosovar AlbaniansE3b1132413101617131130
27Kosovar AlbaniansE3b1132413101518131130
39Kosovar AlbaniansE3b1132413101617131132
50Kosovar AlbaniansE3b1132513101618131130
54Kosovar AlbaniansE3b1132413101618131130
57Kosovar AlbaniansE3b1132513101618131130
62Kosovar AlbaniansE3b1132413101618131130
63Kosovar AlbaniansE3b1132413101618131130
76Kosovar AlbaniansE3b1132413101718131131
82Kosovar AlbaniansE3b1132413101618131130
90Kosovar AlbaniansE3b1132414101717131131
98Kosovar AlbaniansE3b1132414101617131131
104Kosovar AlbaniansE3b1132413101618131130
111Kosovar AlbaniansE3b1132413101618131130
115Kosovar AlbaniansE3b1132414101717131131
118Kosovar AlbaniansE3b1132413101718141132
121Kosovar AlbaniansE3b1132513101618131130
122Kosovar AlbaniansE3b1132413101718141131
124Kosovar AlbaniansE3b1132414101717131131
127Kosovar AlbaniansE3b1132313101718141131
129Kosovar AlbaniansE3b1132414101718131130
130Kosovar AlbaniansE3b1132513101518131130
133Kosovar AlbaniansE3b1132513101717131130
134Kosovar AlbaniansE3b1132414101717131129
135Kosovar AlbaniansE3b1132414101717131131
136Kosovar AlbaniansE3b1132413101618131130
138Kosovar AlbaniansE3b1132414101717131131
139Kosovar AlbaniansE3b1132413101718141131
168Kosovar AlbaniansE3b1132314101717131131
174Kosovar AlbaniansE3b1132414101717131131
179Kosovar AlbaniansE3b1132414101717131131
184Kosovar AlbaniansE3b1132414101717131131
193Kosovar AlbaniansE3b1132414101717131131
196Kosovar AlbaniansE3b1132413101618131130
202Kosovar AlbaniansE3b1132413101619131130
205Kosovar AlbaniansE3b1132613101517131130
221Kosovar AlbaniansE3b1132313101718141131
224Kosovar AlbaniansE3b1132513101518131130
227Kosovar AlbaniansE3b1132413101518131129
229Kosovar AlbaniansE3b1132414101718131131
238Kosovar AlbaniansE3b1132413101618131130
239Kosovar AlbaniansE3b1132313101516131130
243Kosovar AlbaniansE3b1132414101717131131
246Kosovar AlbaniansE3b1132413101618131130
248Kosovar AlbaniansE3b1132413101517131130
257Kosovar AlbaniansE3b1132413101618131129
267Kosovar AlbaniansE3b1132313101617131130
275Kosovar AlbaniansE3b1132513101618131130
276Kosovar AlbaniansE3b1132414101717131131
277Kosovar AlbaniansE3b1132413101720131130
282Kosovar AlbaniansE3b1132413101618131130
5FYRO MacedoniansE3b1132413101618131130
18FYRO MacedoniansE3b1132413101618131130
39FYRO MacedoniansE3b1132413111621131130
56FYRO MacedoniansE3b1132413101617131130
67FYRO MacedoniansE3b1132513101618131130
106FYRO MacedoniansE3b1132313111619141131
116FYRO MacedoniansE3b1132313101618131130
118FYRO MacedoniansE3b1132513101618131130
126FYRO MacedoniansE3b1132413101618131130
128FYRO MacedoniansE3b1132413101618131130
129FYRO MacedoniansE3b1132413101618131130
141FYRO MacedoniansE3b1132513101618131130
146FYRO MacedoniansE3b1132413101620131130
148FYRO MacedoniansE3b1132413101618131130
156FYRO MacedoniansE3b1132313111819131230
163FYRO MacedoniansE3b1132513111719131130
164FYRO MacedoniansE3b1132414101919131130
165FYRO MacedoniansE3b1132413101618131230
169FYRO MacedoniansE3b1132416101619131130
44Macedonian RomaE3b1132413101619131129
50Macedonian RomaE3b1132313101619131129
53Macedonian RomaE3b1132413101619131129
54Macedonian RomaE3b1132413101618131130
57Macedonian RomaE3b1132413101619131130
58Macedonian RomaE3b1132413101619131130
62Macedonian RomaE3b1132413101619131129
65Macedonian RomaE3b1132413101619131129
66Macedonian RomaE3b1132413101619131129
70Macedonian RomaE3b1132413101619131130
71Macedonian RomaE3b1132413101619131129
79Macedonian RomaE3b1132413101619131129
100Macedonian RomaE3b1132413101619131129
101Macedonian RomaE3b1132413101619131130
106Macedonian RomaE3b1132413101618131130
108Macedonian RomaE3b1132413101618131130
135Macedonian RomaE3b1132413101618131130
14SerbianE3b1132513101617131131
19SerbianE3b1132413101618141131
23SerbianE3b1132413101617141132
24SerbianE3b1132513101618131130
29SerbianE3b1132313101617131130
34SerbianE3b1132413101618131130
43SerbianE3b1132413101517131130
46SerbianE3b1132413111617131131
60SerbianE3b1132513101718131130
68SerbianE3b1132313111418121129
78SerbianE3b1132413101618131130
80SerbianE3b1132413101619131129
83SerbianE3b1132414101717131131
86SerbianE3b1132413101718121130
88SerbianE3b1132413101617131131
92SerbianE3b1132413101718131131
95SerbianE3b1132513101618131130
98SerbianE3b1132413101719131130
100SerbianE3b1132313101616131130
106SerbianE3b1132413111618131130
111SerbianE3b1132413101718141131
112SerbianE3b1142413101618131130
117SerbianE3b1142413101618131130
75Kosovar AlbaniansE3b213241391314141130
268Kosovar AlbaniansE3b314241391616131130
55SerbianE3b315241391217131130
Personal tools