Leber’s hereditary optic neuropathy (LHON) is a form of disorder caused by pathogenic mutations i... more Leber’s hereditary optic neuropathy (LHON) is a form of disorder caused by pathogenic mutations in a mitochondrial DNA. LHON is maternally inherited disease, which manifests mainly in young adults, affecting predominantly males. Clinically LHON has a manifestation as painless central vision loss, resulting in early onset of disability. Epidemiology of LHON has not been fully investigated yet. In this study, we report 44 genetically unrelated families with LHON manifestation. We performed whole mtDNA genome sequencing and provided genealogical and molecular genetic data on mutations and haplogroup background of LHON patients in the Western Siberia population. Known “primary” pathogenic mtDNA mutations (MITOMAP) were found in 32 families: m.11778G>A represents 53,10% (17/32), m.3460G>A – 21,90% (7/32), m.14484T>C – 18,75% (6/32), and rare m.10663T>C and m.3635G>A represent 6,25% (2/32). We describe potentially pathogenic m.4659G>A in one subject without known pathoge...
Coastal migration is linear and transport-reliant so that pre-Clovis coastal migration should be ... more Coastal migration is linear and transport-reliant so that pre-Clovis coastal migration should be anticipated from its origin, as in the Thule migration, not its destination. Thule historiography, like Clovis, implicated a rapid, climate-forced migration by rapacious "over-killing" seal-hunters and whalers venturing into unoccupied high arctic landscapes-a model now insupportable. Thule datasets, from middens and numerous burials, include wood, ivory, and bone technologies that convey the factors promoting emigration: status striving, social inequality, and local overpopulation, but not an iron trade with Norse or Dorset. The emerging chronology situates the Thule migrations during a cooler thirteenth century while political ethnogeography records that ancestral Thule societies, Birnirk or Punuk, arose within a Bering Strait still dominated by Old Bering Sea culture. Data from the several Thule migrations, including lithic technology and ancient DNA, foster the re-examination of the coastal Beringian Standstill and Kelp highway scenarios, with a redirected focus on Sakhalin and Japan.
The article comprises the results of the investigation of the frequencies of alleles of 9 gene lo... more The article comprises the results of the investigation of the frequencies of alleles of 9 gene loci controlling the blood groups, isoenzymes in populations and subpopulations of Cumandinians and Chelkanians. The presence of alleles A2 r(cde) and K at low concentrations was discovered in both groups. The method of genetic distances was used for the investigation of the inter- and intragroup divergence. With respect to certain loci a considerable variation of allelic frequencies from village to village was established.
Chi-square contingency table analysis of phenotypic (genotypic) and gene frequencies of erythrocy... more Chi-square contingency table analysis of phenotypic (genotypic) and gene frequencies of erythrocyte and blood serum groups and enzymes in a group of reindeer hunter and fishermen revealed heterogeneity within the population studied. Four out of twelve loci which have been compared were found to be involved in the process of differentiation into two local subgroups (subpopulations). No statistical differences have been observed between samples arbitrarily representing three generations. The data obtained support the hypothesis that the whole population still preserves the state of the stability. Traditional migration from adjacent populations close to nganasans by language and culture has made an important contribution into heterogeneity found in nganasans.
Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four p... more Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four populations of Asiatic Eskimos. 12 of 16 gene loci studied were found to be polymorphic. Analysis of covariance and variance matrices for gene frequencies of 8 Bering Sea populations revealed major aspects of regional genetic structure. Regression of average heterozygosity on genetic distance from centroid permitted us to interpret it in the light of counterbalancing action of systematic and non-systematic pressure. Analysis of R matrix containing gene frequencies for both Eskimo and Chukchi populations revealed two different clusters - more heterogeneous Eskimo cluster and less heterogeneous Chukchi cluster. Good fit was observed between regional genetic structure, history and geography.
Variability of the HLA class II genes (alleles of the DRB1, DQA1, and DQB1 loci) was investigated... more Variability of the HLA class II genes (alleles of the DRB1, DQA1, and DQB1 loci) was investigated in a sample of Aleuts of the Commanders (n = 31), whose ancestors inhabited the Commander Islands for many thousand years. Among 19 haplotypes revealed in Aleuts of the Commanders, at most eight were inherited from the native inhabitants of the Commander Islands. Five of these haplotypes (DRB1*0401-DQA1*0301-DQB1*0301, DRB1*1401-DQA1*0101-DQB1*0503, DRB1*0802-DQA1*0401-DQB1*0402, DRB1*1101-DQA1*0501-DQB1*0301, and DRB1*1201-DQA1*0501-DQB1*0301) were typical of Beringian Mongoloids, i.e., Coastal Chukchi and Koryaks, as well as Siberian and Alaskan Eskimos. Genetic contribution of the immigrants to the genetic pool of proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.
The mtDNA variation has been studied in representatives of the Russkoe Ust'e (n = 30), Kolyma... more The mtDNA variation has been studied in representatives of the Russkoe Ust'e (n = 30), Kolyma (n = 31), and Markovo (n = 26) ethnic subgroups originating from Russian military men, hunters, and fishers who married local Yukaghir women and settled at the Arctic Ocean coast and on the Anadyr' River more than 350 years ago. The mtDNA haplotypes characteristic of indigenous Siberian peoples have been demonstrated to form the basis of the mitochondrial gene pool of long-term Russian resident populations of the region. Only one of 30 identified haplotypes belonging to 11 haplogroups (H2a) is characteristic of European populations. The C and D haplogroups are the most diverse. The analysis has revealed the characteristics of the population structure of the long-term Russian resident populations and allowed them to be interpreted in terms of recent historical and environmental processes.
Aspects of population structure within two of the least disintegrated "anthropological isola... more Aspects of population structure within two of the least disintegrated "anthropological isolates" in north-western (forest Nentsi) and north-central (Nganasani) Siberia were analysed on the basis of 14 polymorphic loci. The mean FIS values were found to be 0.008 in the forest Nentsi and -0.038 in the Nganasani. The negative FIS in the latter may be due to avoidance of close inbreeding. This is not the case with the Forest Nentsi who prefer matings of the uncle-niece and first cousin's type. The mean RST(FST) values of 0.026 for the forest Nentsi and 0.009 for less heterogeneous Nganasani fall within the range of values found in subdivided human groups with a similar pattern of material culture and economy. Analysis of covariance and variance matrices containing gene frequencies for seven forest Nentsi and three Nganasani subdivisions indicate that the population structure of both groups is the product of the counterbalancing action of genetic drift and migration. Pairwi...
Three separate and reproductively isolated populations living at present in boreal forest and tun... more Three separate and reproductively isolated populations living at present in boreal forest and tundra area in Eastern Siberia were studied. Blood groups (AB0, MNSs, Rhesus, Duffy, P. Diego), immunoglobulin allotypes--G1m (z, a, x, f), G3m (b, b0, b1, b3, s, t), Hp, Tf, PGM1, AcP, 6-PGD were tested in blood samples obtained from total 570 individuals. Analysis of covariance and variance matrices containing gene frequencies of the Nganasans, Reindeer Chukchi, the Yugaghir and the Evens has revealed major aspects of regional genetic structure which is in good accordance with regional history and geography.
Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four p... more Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four populations of Asiatic Eskimos. 12 of 16 gene loci studied were found to be polymorphic. Analysis of covariance and variance matrices for gene frequencies of 8 Bering Sea populations revealed major aspects of regional genetic structure. Regression of average heterozygosity on genetic distance from centroid permitted us to interpret it in the light of counterbalancing action of systematic and non-systematic pressure. Analysis of R matrix containing gene frequencies for both Eskimo and Chukchi populations revealed two different clusters - more heterogeneous Eskimo cluster and less heterogeneous Chukchi cluster. Good fit was observed between regional genetic structure, history and geography.
In order to explore the diversity and selective signatures of duplication and deletion human copy... more In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Inbreeding and its effect on fertility have been investigated in small (N approximately 1500) pop... more Inbreeding and its effect on fertility have been investigated in small (N approximately 1500) population of fisherman, hunters and reindeer breeders living in Northwestern Siberia. Average coefficient of inbreeding in total population was found to be 0.012, ranging from 0.003 to 0.016 between six subisolates. 8% of the total number of matings were matings between close relatives of uncle-niece, first cousins and double first cousins type. Nine polygamic matings were observed among presently living males belonging to elder generation. Comparative analysis of fertility in women whose reproduction had been completed was performed for 64 consanguineous and 120 non-consangineous matings. Insignificant decrease of average number of live births and surviving children was observed in matings of uncle-niece type and could be attributed to the greater number of sterile couples than in control matings. No differences have been observed when consanguineous matings of first cousins type were com...
Serum blood samples from 796 of the total 1600 Forest Nentsi, the members of the isolate in the n... more Serum blood samples from 796 of the total 1600 Forest Nentsi, the members of the isolate in the north-western part of Siberia were tested for the G1m (z, a, x, f), G2m (n), G3m (g, b0, b1, b3, b5, s, t) and Km (1) antigens. Significant heterogeneity in local Gm haplotype and Km1 allele frequencies has been found. The frequencies of "deleted" Gm (-; n; b) and Gm (-;..; g) haplotypes were found to be equal 0,020 and 0,004, respectively. When segregation disturbances for the Gm locus were inspected in 102 families, no apparent deviations from Mendelian expectations occurred. Blent, Oriental-Caucasian origin of Forest Nentsi has been confirmed by the presence of "Northern Oriental" Gm (za; b035st) and "Caucasian" Gm (f; b0135) markers showing the frequency of 0.199 and 136, respectively.
Aspects of population structure within two of the least disintegrated "anthropological isola... more Aspects of population structure within two of the least disintegrated "anthropological isolates" in north-western (forest Nentsi) and north-central (Nganasani) Siberia were analysed on the basis of 14 polymorphic loci. The mean FIS values were found to be 0.008 in the forest Nentsi and -0.038 in the Nganasani. The negative FIS in the latter may be due to avoidance of close inbreeding. This is not the case with the Forest Nentsi who prefer matings of the uncle-niece and first cousin's type. The mean RST(FST) values of 0.026 for the forest Nentsi and 0.009 for less heterogeneous Nganasani fall within the range of values found in subdivided human groups with a similar pattern of material culture and economy. Analysis of covariance and variance matrices containing gene frequencies for seven forest Nentsi and three Nganasani subdivisions indicate that the population structure of both groups is the product of the counterbalancing action of genetic drift and migration. Pairwi...
Leber’s hereditary optic neuropathy (LHON) is a form of disorder caused by pathogenic mutations i... more Leber’s hereditary optic neuropathy (LHON) is a form of disorder caused by pathogenic mutations in a mitochondrial DNA. LHON is maternally inherited disease, which manifests mainly in young adults, affecting predominantly males. Clinically LHON has a manifestation as painless central vision loss, resulting in early onset of disability. Epidemiology of LHON has not been fully investigated yet. In this study, we report 44 genetically unrelated families with LHON manifestation. We performed whole mtDNA genome sequencing and provided genealogical and molecular genetic data on mutations and haplogroup background of LHON patients in the Western Siberia population. Known “primary” pathogenic mtDNA mutations (MITOMAP) were found in 32 families: m.11778G>A represents 53,10% (17/32), m.3460G>A – 21,90% (7/32), m.14484T>C – 18,75% (6/32), and rare m.10663T>C and m.3635G>A represent 6,25% (2/32). We describe potentially pathogenic m.4659G>A in one subject without known pathoge...
Coastal migration is linear and transport-reliant so that pre-Clovis coastal migration should be ... more Coastal migration is linear and transport-reliant so that pre-Clovis coastal migration should be anticipated from its origin, as in the Thule migration, not its destination. Thule historiography, like Clovis, implicated a rapid, climate-forced migration by rapacious "over-killing" seal-hunters and whalers venturing into unoccupied high arctic landscapes-a model now insupportable. Thule datasets, from middens and numerous burials, include wood, ivory, and bone technologies that convey the factors promoting emigration: status striving, social inequality, and local overpopulation, but not an iron trade with Norse or Dorset. The emerging chronology situates the Thule migrations during a cooler thirteenth century while political ethnogeography records that ancestral Thule societies, Birnirk or Punuk, arose within a Bering Strait still dominated by Old Bering Sea culture. Data from the several Thule migrations, including lithic technology and ancient DNA, foster the re-examination of the coastal Beringian Standstill and Kelp highway scenarios, with a redirected focus on Sakhalin and Japan.
The article comprises the results of the investigation of the frequencies of alleles of 9 gene lo... more The article comprises the results of the investigation of the frequencies of alleles of 9 gene loci controlling the blood groups, isoenzymes in populations and subpopulations of Cumandinians and Chelkanians. The presence of alleles A2 r(cde) and K at low concentrations was discovered in both groups. The method of genetic distances was used for the investigation of the inter- and intragroup divergence. With respect to certain loci a considerable variation of allelic frequencies from village to village was established.
Chi-square contingency table analysis of phenotypic (genotypic) and gene frequencies of erythrocy... more Chi-square contingency table analysis of phenotypic (genotypic) and gene frequencies of erythrocyte and blood serum groups and enzymes in a group of reindeer hunter and fishermen revealed heterogeneity within the population studied. Four out of twelve loci which have been compared were found to be involved in the process of differentiation into two local subgroups (subpopulations). No statistical differences have been observed between samples arbitrarily representing three generations. The data obtained support the hypothesis that the whole population still preserves the state of the stability. Traditional migration from adjacent populations close to nganasans by language and culture has made an important contribution into heterogeneity found in nganasans.
Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four p... more Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four populations of Asiatic Eskimos. 12 of 16 gene loci studied were found to be polymorphic. Analysis of covariance and variance matrices for gene frequencies of 8 Bering Sea populations revealed major aspects of regional genetic structure. Regression of average heterozygosity on genetic distance from centroid permitted us to interpret it in the light of counterbalancing action of systematic and non-systematic pressure. Analysis of R matrix containing gene frequencies for both Eskimo and Chukchi populations revealed two different clusters - more heterogeneous Eskimo cluster and less heterogeneous Chukchi cluster. Good fit was observed between regional genetic structure, history and geography.
Variability of the HLA class II genes (alleles of the DRB1, DQA1, and DQB1 loci) was investigated... more Variability of the HLA class II genes (alleles of the DRB1, DQA1, and DQB1 loci) was investigated in a sample of Aleuts of the Commanders (n = 31), whose ancestors inhabited the Commander Islands for many thousand years. Among 19 haplotypes revealed in Aleuts of the Commanders, at most eight were inherited from the native inhabitants of the Commander Islands. Five of these haplotypes (DRB1*0401-DQA1*0301-DQB1*0301, DRB1*1401-DQA1*0101-DQB1*0503, DRB1*0802-DQA1*0401-DQB1*0402, DRB1*1101-DQA1*0501-DQB1*0301, and DRB1*1201-DQA1*0501-DQB1*0301) were typical of Beringian Mongoloids, i.e., Coastal Chukchi and Koryaks, as well as Siberian and Alaskan Eskimos. Genetic contribution of the immigrants to the genetic pool of proper Aleuts constituted about 52%. Phylogenetic analysis based on Transberingian distribution of the DRB1 allele frequencies favored the hypothesis on the common origin of Paleo-Aleuts, Paleo-Eskimos, and the Indians from the northwestern North America, whose direct ancestors survived in Beringian/southwestern Alaskan coastal refugia during the late Ice Age.
The mtDNA variation has been studied in representatives of the Russkoe Ust'e (n = 30), Kolyma... more The mtDNA variation has been studied in representatives of the Russkoe Ust'e (n = 30), Kolyma (n = 31), and Markovo (n = 26) ethnic subgroups originating from Russian military men, hunters, and fishers who married local Yukaghir women and settled at the Arctic Ocean coast and on the Anadyr' River more than 350 years ago. The mtDNA haplotypes characteristic of indigenous Siberian peoples have been demonstrated to form the basis of the mitochondrial gene pool of long-term Russian resident populations of the region. Only one of 30 identified haplotypes belonging to 11 haplogroups (H2a) is characteristic of European populations. The C and D haplogroups are the most diverse. The analysis has revealed the characteristics of the population structure of the long-term Russian resident populations and allowed them to be interpreted in terms of recent historical and environmental processes.
Aspects of population structure within two of the least disintegrated "anthropological isola... more Aspects of population structure within two of the least disintegrated "anthropological isolates" in north-western (forest Nentsi) and north-central (Nganasani) Siberia were analysed on the basis of 14 polymorphic loci. The mean FIS values were found to be 0.008 in the forest Nentsi and -0.038 in the Nganasani. The negative FIS in the latter may be due to avoidance of close inbreeding. This is not the case with the Forest Nentsi who prefer matings of the uncle-niece and first cousin's type. The mean RST(FST) values of 0.026 for the forest Nentsi and 0.009 for less heterogeneous Nganasani fall within the range of values found in subdivided human groups with a similar pattern of material culture and economy. Analysis of covariance and variance matrices containing gene frequencies for seven forest Nentsi and three Nganasani subdivisions indicate that the population structure of both groups is the product of the counterbalancing action of genetic drift and migration. Pairwi...
Three separate and reproductively isolated populations living at present in boreal forest and tun... more Three separate and reproductively isolated populations living at present in boreal forest and tundra area in Eastern Siberia were studied. Blood groups (AB0, MNSs, Rhesus, Duffy, P. Diego), immunoglobulin allotypes--G1m (z, a, x, f), G3m (b, b0, b1, b3, s, t), Hp, Tf, PGM1, AcP, 6-PGD were tested in blood samples obtained from total 570 individuals. Analysis of covariance and variance matrices containing gene frequencies of the Nganasans, Reindeer Chukchi, the Yugaghir and the Evens has revealed major aspects of regional genetic structure which is in good accordance with regional history and geography.
Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four p... more Blood groups, immunoglobulin allotypes, serum proteins and red cell enzymes were tested in four populations of Asiatic Eskimos. 12 of 16 gene loci studied were found to be polymorphic. Analysis of covariance and variance matrices for gene frequencies of 8 Bering Sea populations revealed major aspects of regional genetic structure. Regression of average heterozygosity on genetic distance from centroid permitted us to interpret it in the light of counterbalancing action of systematic and non-systematic pressure. Analysis of R matrix containing gene frequencies for both Eskimo and Chukchi populations revealed two different clusters - more heterogeneous Eskimo cluster and less heterogeneous Chukchi cluster. Good fit was observed between regional genetic structure, history and geography.
In order to explore the diversity and selective signatures of duplication and deletion human copy... more In order to explore the diversity and selective signatures of duplication and deletion human copy number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures than deletions and are more likely to be stratified between human populations. Through reconstruction of the ancestral human genome, we identify megabases of DNA lost in different human lineages and pinpoint large duplications that introgressed from the extinct Denisova lineage now found at high frequency exclusively in Oceanic populations. We find that the proportion of CNV base pairs to single nucleotide variant base pairs is greater among non-Africans than it is among African populations, but we conclude that this difference is likely due to unique aspects of non-African population history as opposed to differences in CNV load.
Inbreeding and its effect on fertility have been investigated in small (N approximately 1500) pop... more Inbreeding and its effect on fertility have been investigated in small (N approximately 1500) population of fisherman, hunters and reindeer breeders living in Northwestern Siberia. Average coefficient of inbreeding in total population was found to be 0.012, ranging from 0.003 to 0.016 between six subisolates. 8% of the total number of matings were matings between close relatives of uncle-niece, first cousins and double first cousins type. Nine polygamic matings were observed among presently living males belonging to elder generation. Comparative analysis of fertility in women whose reproduction had been completed was performed for 64 consanguineous and 120 non-consangineous matings. Insignificant decrease of average number of live births and surviving children was observed in matings of uncle-niece type and could be attributed to the greater number of sterile couples than in control matings. No differences have been observed when consanguineous matings of first cousins type were com...
Serum blood samples from 796 of the total 1600 Forest Nentsi, the members of the isolate in the n... more Serum blood samples from 796 of the total 1600 Forest Nentsi, the members of the isolate in the north-western part of Siberia were tested for the G1m (z, a, x, f), G2m (n), G3m (g, b0, b1, b3, b5, s, t) and Km (1) antigens. Significant heterogeneity in local Gm haplotype and Km1 allele frequencies has been found. The frequencies of "deleted" Gm (-; n; b) and Gm (-;..; g) haplotypes were found to be equal 0,020 and 0,004, respectively. When segregation disturbances for the Gm locus were inspected in 102 families, no apparent deviations from Mendelian expectations occurred. Blent, Oriental-Caucasian origin of Forest Nentsi has been confirmed by the presence of "Northern Oriental" Gm (za; b035st) and "Caucasian" Gm (f; b0135) markers showing the frequency of 0.199 and 136, respectively.
Aspects of population structure within two of the least disintegrated "anthropological isola... more Aspects of population structure within two of the least disintegrated "anthropological isolates" in north-western (forest Nentsi) and north-central (Nganasani) Siberia were analysed on the basis of 14 polymorphic loci. The mean FIS values were found to be 0.008 in the forest Nentsi and -0.038 in the Nganasani. The negative FIS in the latter may be due to avoidance of close inbreeding. This is not the case with the Forest Nentsi who prefer matings of the uncle-niece and first cousin's type. The mean RST(FST) values of 0.026 for the forest Nentsi and 0.009 for less heterogeneous Nganasani fall within the range of values found in subdivided human groups with a similar pattern of material culture and economy. Analysis of covariance and variance matrices containing gene frequencies for seven forest Nentsi and three Nganasani subdivisions indicate that the population structure of both groups is the product of the counterbalancing action of genetic drift and migration. Pairwi...
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