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The analysis gaplogroup Y-chromosomes in an East Slavic gene pool



UDK 577.17

The ANALYSIS of GAPLOGROUP of Y-HROMOSOMY In the VOSTOCHNOSLAVYANSKY GENE POOL

I.N. Lependina 1 LA Tsapkov 1 E.V. Balanovskaya 2 M.I. Churnosov 1

1 Belgorod

university

2 Medical genetic-genetic Russian Academy of Medical Science

e-mail: Lependina@bsu.edu.ru

Within work the gene pool of the indigenous Russian and Ukrainian population of the Belgorod region by data about polymorphism of the U-chromosome is for the first time studied. The main gaplogruppa which are a basis of a men's gene pool of the Belgorod population are established. The phylogenetic analysis is carried out and the age of the main gaplog-rupp U-chromosomes, characteristic of the population of the area is calculated.

Introduction. The researches connected with the analysis of origin and evolutionary history of human populations are the most relevant in population genetics now. Data on structure of gene pools of modern populations can reflect the main microevolutionary processes in the historical past of these populations [1, 2].

One of approaches in studying genetic structure of human populations is the analysis gaplogroup U-chromosomes. Thanks to the genetic properties - the gaploidnost, transfer on the fatherly line, lack of recombinations, the U-chromosome proved as a high-perspective marker and is widely used in population and genetic researches. In the absence of recombinations and small effective number the U-chromosome more than autosomes and MTDNK, it is subject to effects of genetic drift and is characterized by bigger degree of population variability that leads to the high level of geographical differentiation which can be used for a research of migration events in the history of any given people.

The polymorphism of the U-chromosome is widely studied in many world populations [3, 4, 5, 6]. Now there is an active accumulation of information on U-chromosome markers in various racial ethnic groups both within Russia, and in neighboring countries [7, 8]. Nevertheless, the polymorphism of the U-chromosome is insufficiently studied both in populations of Russians, and at east Slavs in general. There is only an insignificant number of the works devoted to this question.

Studying the population of the Belgorod region is especially relevant as, first, the territory of the modern Belgorod region represents the southern regions of a primordial area of the Russian people, and the city of Belgorod with the settlements surrounding it was founded in the 16th century as a part of defensive line at the southern border of Russia. Secondly, the population of the Belgorod region which is territorially located on a joint of Russia and Ukraine in the 16-17th centuries was formed under significant influence of both Russian, and Ukrainian of ethnic groups. Thirdly, so far features of polymorphism of the U-chromosome in the Russian populations which are located in the adjacent fields of resettlement of the East Slavic people are almost not studied the place in the system of an East Slavic gene pool was not estimated them. Thus, the Belgorod region can serve as adequate model for studying a gene pool of two main East Slavic groups - Russians and Ukrainians.

In a gene pool of east Slavs are presented various on time and the place of origin of a gaplogruppa of the U-chromosome which are result of migrations

various ethnic groups in the historical past [z, 7, 8, 9]. Therefore the analysis gaplogroup in a gene pool of east Slavs is necessary for understanding of processes of ethnogenesis and resettlement of the modern person on the planet.

Objects and methods of a research. Within this work the studying genetic structure of the Russian and Ukrainian populations by data about polymorphism of a Y-chromosome is carried out - 20 diallelic markers are considered (Mi (YAP), M9, M17, M46 (Tat), M70, M78, M170, M172, M173, M178, M201, M223, M231, M242, M253, M269, 12F2, P37, P43, 92R7).

The Russian and Ukrainian population of the Belgorod region of the Russian Federation served as model of a research. Geographically this area is carried to the southern part of the Central Russia. Territorially the area is located on border with Ukraine (Sumy and Kharkiv regions), from the North and the northwest - with Kursk region, and from the East - from Voronezh. The territory of the Belgorod region is included into a primordial area of resettlement of east Slavs, however its population was formed under the influence of multidirectional migration waves both Russians, and Ukrainians that does it by attractive model for study.

The total amount of genetically studied sample was 403 persons from whom 350 radical Russian inhabitants living in Yakovlevskom (140 people), Prohorov's (114 people), Krasnensk (96 people) areas and 53 radical Ukrainian inhabitants living in Krasnogvardeyskom (33 persons) and Grayvoronsky areas of the Belgorod region (20 people). The sample was formed of unrelated faces (to the third degree of relationship) which all ancestors (on depth not less than three generations in the male line) treat the Russian or Ukrainian ethnos and come from this population. Sampling of blood was carried out according to the international standards from the written consent surveyed and under control of the Ethical commission GU MGNTS by the Russian Academy of Medical Science.

As material for a research the blue blood of 8-9 ml taken from an elbow vein of surveyed served. DNA allocated from peripheral blood with method of phenolic and chloroformic extraction.

According to classification gaplogroup offered by Consortium on the research Y-chromosomes (The Y-Chromosomal Consortium, 2002) us studied polymorphism of 20 diallelic loci of not recombining part of a Y-chromosome: M1 (YAP), M9, M17, M46 (Tat), M70, M78, M170, M172, M173, M178, M201, M223, M231, M242, M253, M269, 12F2, P37, P43, 92R7. The choice of this panel of markers is caused by their informational content for studying East Slavic gene pools. Genotyping of diallelic markers carried out by means of the polymerase chain reaction (PCR) and the subsequent PDRF-analysis of fragments of DNA in agarous gel, or direct division of products with the help an allele - specific PCR.

Statistical analysis. For calculation of frequencies of genes, a gene variety, genetic differentiation of populations standard statistical methods were used [10]. The expected heterozygosity, the index of a variety of gaploti-p (Dhg) were calculated on Nei.

Phylogenetic relationship of microsatellite gaplotip inside gaplogroup and their variety revealed by creation of phylogenetic trees by a method of median networks with use of Network program 4.0.

Assessment of time for which an observed variety of gaplotip in gaplogruppa was generated was estimated by two methods: 1) on the basis of average square differences in number of repetitions on each locus between all chromosomes and the gaplotipom-founder, 2) by means of assessment of a genetic distance r, counted as average of mutational steps from the gaplotipa-founder to all other gaplotipa as a part of median network. Divergence of populations was timed with use of TD statistics [10].

Paired comparison of populations on frequencies of alleles of loci was carried out by means of criterion h2. Genetic characteristics of a variety of populations were estimated by means of coefficient of gene differentiation (Gst) [10].

Results and discussion. The analysis of distribution gaplogroup Y-chromosomes at the indigenous Russian and the Ukrainian population of the Belgorod region. As a result of studying distribution gaplogroup Y-chromosomes in the population of the Belgorod region it is revealed 16 gaplogroup. Their frequencies were: Rial - 55.82%, lib of-14.64%, N3 - 10.92%, Iia - 4.23%, Rib3 - 2.98%, J2 - 2.48%, E3bi - 2.48%, Ri - 1.74%, K2 - 0.99%, N2 - 0.74%, Iic - 0.50%, J - 0.50%, D and E - 0.50%, G - 0.50%, K - 0.25%, Q - 0.23%.

At the Russian population of the area all were established 16 specified gaplogroup. Above a one-percentage threshold met 9 gaplogroup - Riai, Iib, N3, Iia, Rib3, J2, Ri, K2, E3bi from which 3 gaplogruppa of Rial (57.14%), Iib (13.72%), N3 (11.71%) were the most frequent. Frequency of the others gaplogroup N2, Iic, J, Q, D and E, G, K did not reach 1% level. At Ukrainians it was revealed 10 gaplogroup - Riai, Ri, Rib3, N2, N3, Iia, Iib, J2, D,E, E3bi. 4 gaplogruppa - Riai (47, % i7), Iib (20.75%), E3bi (ii, 32%), N3 (5.66%) appeared the most frequent.

Comparing variability of frequencies of alleles at the Russian and Ukrainian population of the Belgorod region to data on the Russian gene pool, it is possible to mark out the following features.

First, frequencies gaplogroup Riai and Iib among the Russian population of the Belgorod region is reliable above the Central Russian indicators (р< 0.05-0.001), and distribution gaplogroup N3 and Rib3 - below the Central Russian values (р< 0.05-0.001). Concentration gaplogroup Iia, J2, E3bi at Russians of the Belgorod region corresponded to their average frequencies in the Russian populations (fig. 1).

60
50
40
30
20
10
0
11 b

□ the Russian population Belgorod oblas-In the "Central Russian" population ti

Fig. 1. Average frequencies of a row gaplogroup U-chromosomes among the Russian population and the population of the Belgorod region

Secondly, the trend of increase in frequencies of a gaplogruppa of Ez1 and decrease in concentration of a gaplogruppa Itz from the West on the East is revealed in the Russian population of the Belgorod region.

Thirdly, the Russian and Ukrainian population of the Belgorod region on frequencies gaplogroup the U-chromosome does not differ, except for a gaplogruppa of Ez1 which concentration at Ukrainians (11.32%) appeared authentically (р< 0.001) 10 times more, than at Russians (1.14%).

Genetic differentiation of the population of the Belgorod region on U-chromosome markers.

At a research of a gene variety of the Belgorod population it is established that the average level of gene differentiation of the Russian population Belgorod

areas, the chromosome Y-estimated by data about frequencies 16 gaplogroup, made GsT^iû2 = 0.78, and by data about frequencies of 63 alleles of 7 STR loci of Y-of a chromosome-GsT^iû2 =0.66. Thus, according to two Y-chromosomes systems (SNP and STR) approximately identical values of level of gene differentiation of the Belgorod population are received that there is much higher than the level of genetic variety received both on autosomal DNA to markers of d=0.006 and on immuno-biochemical markers of d = 0.007 [13.14] For assessment of degree of the importance of heterogeneity of a gene pool of the Russian population of the Belgorod region in the system of the Russian gene pool we compared the level of genetic differentiation of the Russian population to genetic variability of all Russian people. Because in literature available to us there are data on genetic heterogeneity of the Russian people on SNP to markers of the Y-chromosome estimated only with use of an indicator of genetic distances (d) [8] for such comparative analysis we made calculation of genetic distances between the studied populations of the Belgorod region through an indicator (d) too. Average genetic distances on Y-chromosome gaplogruppa in the all-Russian gene pool made d=0, i36, and heterogeneity of the Russian population of the Belgorod region according to us - d=0.022. So, apparently, the level of gene differentiation of the Russian population of the Belgorod region on SNP to markers of a Y-chromosome is lower than differentiation of the Russian gene pool in general. However a variety of the Russian population of the Belgorod region which covers a small circle of enough close located populations and represents only a small part of all Russian people, it was very essential - about 20% of all variety of the Russian gene pool are the share of populations of the Belgorod region. Similar data were obtained by us earlier on immuno-biochemical markers. It was established that about 25% of all variety of the Russian gene pool are the share of populations of the South of the Central Russia.

The comparative analysis of genetic variability of the Russian population of the Belgorod region made by us with use of various systems of genetic markers showed that the heterogeneity of the Russian population of the area estimated on SNP to markers of a Y-chromosome (d=0.022) is significantly higher (by 3 times) than the similar indicator received both on autosomal DNA to d=0.006 markers and on immuno-biochemical markers of d=0.007. In the Russian gene pool the average genetic distances on SNP to d Y-chromosome markers = 0.136 are also significantly higher, than on immuno-biochemical markers of d=0.0i3 [8.12].

Phylogenetic analysis of microsatellite gaplotip inside gaplogroup.

Phylogenetic relationship of microsatellite gaplotip inside gaplogroup and their variety revealed by creation of phylogenetic trees by a method of median networks with use of Network program 4.0. Median networks built for six main gaplogroup, characteristic of the Russian and Ukrainian population of the Belgorod region in general - Iia, Iib, J2, N3, Riai, Rib3. For the purpose of receiving the most adequate picture of evolutionary relationship between gaplotipa in gaplogruppa the median networks built according to literary data own and available to us.

In fig. 2 the median network the most widespread among the population of the Belgorod region of Ria1 gaplogruppa is presented. This gaplogruppa is characterized by high rates of a gaplotipichesky variety.

The median network of a gaplogruppa Ria1 has complex structure with a set of reticulations and is characterized by accumulation of separate gaplotip. Estimated ancestral gaplotip this gaplogruppa (in the drawing it is designated by an arrow) has allelic structure of ii/i4-i2-25-ii-ii-i3-i6 (for DYS38sa/b-388-390-39i-392-393-i9 respectively). High frequency of the gaplotipa-founder and his minimum average distance (on number of mutational steps) from other gaplotip in sample are characteristic.

Fig. 2. Median network of microsatellite gaplotip of a gaplogruppa Rial at the Russian and Ukrainian population of the Belgorod region

Age assessment gaplogroup

The assessment of age was carried out for six main gaplogroup (Rial, Iib, N3, Iia, Rib3, J2), revealed in the population of the Belgorod region according to own data and also on own together with world data. The assessment was carried out by two methods: l) on the basis of average square differences in number of repetitions on each locus between all chromosomes and the gaplotipom-founder, 2) by means of assessment of a genetic distance of p counted as average of mutational steps from the gaplotipa-founder to all other gaplotipa as a part of median network. Frequency of mutations of microsatellite loci in both cases was determined as equal 6.9*i0-4 on a locus in 25 years. When calculating age gaplogroup by means of p were based that for a system from seven microsatellite loci to genetic distance of p = l corresponds time equal 5l76 to years (recalculation of the chosen rate of a mutirovaniye on one mutation). Because of absence in world data in allelic composition of gaplotip of a locus of DYS3S5a/b for gaplogroup Iib, Iia, Rib3 and a locus of DYS388 for N3 gaplogruppa, for these gaplogroup carried out the assessment of age on the basis of the panel from six loci, and according to it recalculation of rate of a mutirovaniye on one mutation in this case appeared to equal 6039 years. Estimates of age of six main gaplogroup, revealed in the population of the Belgorod region, are presented in the table.

By the results received by us the youngest are gaplogruppa of Riai, Iib, N3, Iia, Rib3. The gaplogruppa of J2 was the most ancient. Age estimates gaplogroup Iia, Iib, Rib3 received according to own data were slightly higher than similar estimates with inclusion of world. It should be noted that calculations for a total data set are more exact as they reflect the general gaplotipichesky variety in limits gaplogroup more correctly that leads to specification of age. In a small data set there is an accumulation of separate gaploti-p to the frequency not characteristic of all world variety that can zavy03 •

04

about 1 Q Russians

Ukrainians

to shat average difference of repetitions from an ancestral gaplotip and to increase age gap-logroup. In this regard it should be noted that dating of age of a gaplogruppa of L2 should be considered with care as calculations were made on a limited data set, because of absence in literature of information available to us on a world variety of gaplotip within gaplogruppa Л".

Assessment of age of six main gaplogroup Belgorod population

Gaplogruppa Time of generation of a variety in gaplogruppa, thousand years.

on Zhivotovsry et al., 2004 on Forster et al., 1996, 2000

Own data Own, together with world Own data Own, together with world

R1a1 9.55±3.07 11.44±3.87 9.38±2.64 10.76±2.45

I1b 10.62±3.24 6.74±2.45 9.80±1.99 5.14±1.26

N3 8.63±2.61 9.52±1.92 10.35±3.07 9.08±2.22

I1a 11.99±2.31 9.00±3.19 11.87±2.81 7.38±1.91

R1b3 18.12±4.60 12.72±3.06 14.73±3.96 11.19±3.07

J2 25.36±7.44 - 24.47±7.56 Estimates of time of origin of a gaplotipichesky variety inside gaplogroup, received in our research in general are close to age estimates gaplogroup according to other authors. Only for Rial gaplogruppa assessment of age received by us was slightly lower than the datings given by other authors.

Conclusions.

1. Characteristic of structure of a gene pool of the Russian and Ukrainian populations of the Belgorod region (5 populations, 403 persons) by data about distribution of frequencies 16 gaplogroup is given.
2. Genetic differentiation of the population of the Belgorod region on the Y-chromosomes gaplo-groups (d=0.022) above similar indicators on autosomal DNA (d = 0.006) and to immune and biochemical (d=0.007) markers.
3. Estimates of time of accumulation of a genetic variety and time of divergence of ethnic groups for the majority gaplogroup go back to Mesolith era.

Work is performed within the Federal target program "Scientific and nauchnopedagogichesky shots of innovative Rossii" (government contract No. 02.740.11.0496 "Genetic factors multifaktorialnjkh diseases человека").

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THE ANALYSIS OF HAPLOGROUP Y-CHROMOSOMES IN AN EAST SLAVIC GENOFOND

l.N.Lependina1

LA.Tsapkova1 E.V. Balanovskaia2 M.l.Churnosov1

Within the limits of work the genofund of radical Russian and the Ukrainian population of the Belgorod region by data about polymorphism of a Y-chromosome for the first time is studied. The cores, being a basis of a man&s genofund of the Belgorod population are established. The phylogenetic analysis is carried out and the age of the cores haplogroups Y-chromosomes, characteristic for the area population is calculated.

1Belgorod State University
2Mediko-genetic center of science of the Russian Academy ofMedical Science

e-mail: Lependina@bsu.edu.ru

Andre White
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