Inbreeding and endogamy in Tatarstan

The random inbreeding (F(ST)) and local inbreeding (a) values have been calculated for populations of the district and rural municipality ranks of 16 and 13 raions (administrative districts) of Tatarstan, Russia, respectively. The correlations between all inbreeding values are positive and vary from 0.38 to 0.80. The endogamy index has been calculated for populations of the district rank; it varies from 0.45 in Pestrechinskii raion to 0.74 in Aktanyshskii raion. Cartographic extrapolation of the endogamy indices has been performed.     

Integrated population genetic and medical genetic study of two raions of the Tver oblast

An integrated medical genetic an population genetic study has been performed in two raions (administrative districts) of the Tver oblast (region) of Russia: the Udomlya raion located in the zone affected by the Kalininskaya Nuclear Power Plant and the Ostashkov raion, which served as a control district. No significant differences has been found with respect to the genetic parameters studied. The values of these parameters in the populations of the town of Udomlya, the town of Ostashkov, the Udomlya raion, and the Ostashkov raion, respectively, are the following: random inbreeding, 0.00006, 0.00011, 0.000167, and 0.000366; endogamy index, 0.05, 0.43, 0.30, and 0.42; local inbreeding, 0.0003, 0.00045, 0.0009, and 0.0011; the degree of isolation by distance, 0.0003, 0.00045, 0.0009, and 0.0005; sigma, 2098, 1338, 1473, and 1189; the load of autosomal dominant (AD) diseases, 0.71, 0.92, 0.92, and 1.37; the load of autosomal recessive (AR) diseases, 0.68, 0.69, 0.67, and 0.82; and the load of X-linked diseases, 0.18, 0.64, 0.83, and 0.27.     

Integrated Population Genetic and Medical Genetic Study of Two Raions of the Tver Oblast

An integrated medical genetic an population genetic study has been performed in two raions (administrative districts) of the Tver oblast (region) of Russia: the Udomlya raion located in the zone affected by the Kalininskaya Nuclear Power Plant and the Ostashkov raion, which served as a control district. No significant differences has been found with respect to the genetic parameters studied. The values of these parameters in the populations of the town of Udomlya, the town of Ostashkov, the Udomlya raion, and the Ostashkov raion, respectively, are the following: random inbreeding, 0.00006, 0.00011, 0.000167, and 0.000366; endogamy index, 0.05, 0.43, 0.30, and 0.42; local inbreeding, 0.0003, 0.00045, 0.0009, and 0.0011; the degree of isolation by distance, 0.0003, 0.00045, 0.0009, and 0.0005; , 2098, 1338, 1473, and 1189; the load of autosomal dominant (AD) diseases, 0.71, 0.92, 0.92, and 1.37; the load of autosomal recessive (AR) diseases, 0.68, 0.69, 0! .67, and 0.82; and the load of X-linked diseases, 0.18, 0.64, 0.83, and 0.27.     

Population Genetic Study of the Alatyr' Raion of the Republic of Chuvashia

Population genetic characteristics were estimated in the Alatyr' raion (administrative district) of the Republic of Chuvashia, which has long been populated by three ethnic groups. The ethnic assortativeness values in the town of Alatyr' and the rural area of the district were 1.17 and 1.21, respectively, for Russians; 1.14 and 4.82, respectively, for Chuvashes; and 1.33 and 2.45, respectively, for Mordovians. Wright's statistics were as follows: F _st = 0.00358, F _it = 0.00178, and F _is = 0.00134. The migration indices were 0.0264 for Alatyr' and 0.0178 for the district. The endogamy indices for the total and the Russian populations of Alatyr' were 0.47 and 0.53, respectively. The parameters of isolation by distance were a = 0.000189 and b = 0.009591 for the urban and a = 0.000318 and b = 0.00919 for the rural area. Schemes of the genetic landscape were constructed. The influence of the polyethnic composition on the genetic structure of the population is discussed.     

Genetic Demographic Description of the Ust-Aldan Rural Population of Sakha Republic (Yakutia): Migrations and Marriage Structure

Migrations, dynamics of the gametic structure of rural populations, and marriage structure with respect to birthplaces and inbreeding estimated from isonymy have been studied in the Ust-Aldan ulus (administrative district) of Sakha Republic (Yakutia). The villages studied (Byadi, Dyupsya, and Cheriktey) are characterized by intense migration; however, the migration radius is small (most migrations occur within the district). The rural populations studied differ in the intensities and directions of gamete flows and their dynamics. There is no substantial gamete flow into the Ust-Aldan population from outside Sakha Republic. About 50% of marriages contracted in this population are homolocal (between residents of the same district); the endogamy is low (15%). In most cases of heterolocal marriages (contracted between residents of different districts), one of the spouses is a local resident. The inbreeding estimated from isonymy is F _IT = 0.002930 in Yakuts; it is mainly accounted for by the nonrandom component (F _IS = 0.002232 and F _ST = 0.000700).     

Endogamy and isolation by distance in the Tatarstan population

A total sample of 31 837 marriage records made in 13 raions (districts) of Tatarstan in 1990–2000 have been used to determine the endogamy index and parameters of Malecot’s isolation by distance model. The endogamy index varied from 0.45 in Pestrechinsky raion to 0.74 in Aktynashsky raion. The parameters of Malecot’s isolation by distance model varied in Tatars as follows: random inbreeding, from 0.00014 to 0.00076; root mean square migration, from 46 to 110 km.     

Genetic demographic characteristics of the rural population of the Tuva Republic: marriage structure and inbreeding]

Marriage structure was studied in three rural populations of the Tuva Republic: the Shinaan population and the populations of Todzhinskii and Bai-Taiginskii raions (districts). The Shinaan and Bai-Taiginskii populations had high levels of endogamy (0.6704 and 0.6050, respectively). In the Todzhinskii population, which was characterized by a mixed ethnic composition, endogamy was 0.3779 for the total population and 0.4626 for Tuvinians; interethnic marriages in this population were rare. The values of marriage assortativeness with respect to birthplace were 19.38, 40.75, 75.87, and 41.87% in the Shinaan, Bai-Taiginskii, all the Todzhinskii populations, and Tuvinian monoethnic marriages in the Todzhinskii raion, respectively. High marriage assortativeness with respect to ethnicity was found. Its values (A') were 91.85 and 93.49% in Tuvinians and Russians, respectively. Tuvinian populations were characterized by high inbreeding. The total (F(it)), random (Fst), and nonrandom inbreeding (Fis) estimated by isonymy were 0.004237, 0.002298, and 0.001944 in the Shinaan population, 0.007292, 0.009448, and -0.002177 in the Bai-Taiginskii population, and 0.003846, 0.004152, and -0.000307 in the Todzhinskii population, respectively (in the latter populations, the F(it), Fst, and Fis values for Tuvinian marriages alone were 0.005000, 0.007222, and -0.002238, respectively). The results obtained indicate that individual territorial groups of Tuvinians retain a high degree of genetic isolation from one another.     

Population genetic study of the Alatyr region of the Republic of Chuvashiia

Population genetic characteristics were estimated in the Alatyr' raion (administrative district) of the Republic of Chuvashia, which has long been populated by three ethnic groups. The ethnic assortativeness values in the town of Alatyr' and the rural area of the district were 1.17 and 1.21, respectively, for Russians; 1.14 and 4.82, respectively, for Chuvashes; and 1.33 and 2.45, respectively, for Mordovians. Wright's statistics were as follows: Fst = 0.00358, Fit = 0.00178, and Fis = 0.00134. The migration indices were 0.0264 for Alatyr' and 0.0178 for the district. The endogamy indices for the total and the Russian populations of Alatyr' were 0.47 and 0.53, respectively. The parameters of isolation by distance were a = 0.000189 and b = 0.00959 for the urban and a = 0.000318 and b = 0.00919 for the rural area. Schemes of the genetic landscape were constructed. The influence of the polyethnic composition on the genetic structure of the population is discussed.     

Hereditary deafness in Kirov oblast: A genetic epidemiological study

The results of a genetic epidemiological study of hereditary deafness (HD) in ten raions (districts) of Kirov oblast (administrative region), Russia, are presented. A total of 122 075 people have been examined. Segregation analysis of all families with diagnosed HD has demonstrated a good fit to either the autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. The total prevalence rates of AD and AR HDs, as well as the specific prevalence rates of nonsyndromic and syndromic forms of HD, have been calculated for the population of ten raions. The HD prevalence rate in Kirov oblast has been found to be 1: 1043 people (1: 1453 and 1: 3699 for the nonsyndromic and syndromic forms, respectively). This value has been found to vary in different raions, which is explained by differences in the genetic subdivision levels of the populations studied; the correlation coefficient between the HD load and random inbreeding (F _ST) in district populations is r = 0.81 ± 0.22. The diversity of syndromic hearing disorders is described.     

Genetic diversity and population structure of six South African Acacia mearnsii breeding populations based on SSR markers

Black wattle (Acacia mearnsii) has great economic value as a commercial source of tannins, timber and a source of firewood for local and international markets. It has been suggested that to maximize the genetic gain of A. mearnsii plantations in South Africa, the gene pool that exist within ICFR needs to be broadened via introduction of new genotypes with diverse traits. In this work, 282 A. mearnsii samples sourced from the ICFR breeding program were genotyped using 11 cross-species SSR markers. Our results showed low to moderate genetic differentiation (F_ST) among the six breeding subpopulations, with positive inbreeding (F_IS) values that could be attributed to an historical inbreeding event. Low levels of relatedness could however indicate some mechanism of inbreeding avoidance. The effects from a recent supplementation of genetic material from two native Australian populations were observed through genetic structuring analyses. Analysis of molecular variance (AMOVA) revealed that significant genetic variation was mainly distributed within populations (75%) and among individuals (23%). The results provide significant information on A. mearnsii population genetic diversity and structure, which can be used for conservation of the current subpopulations and future tree improvement programs.

     

Inbreeding depression and drift load in small populations at demographic disequilibrium

Inbreeding depression is a major driver of mating system evolution and has critical implications for population viability. Theoretical and empirical attention has been paid to predicting how inbreeding depression varies with population size. Lower inbreeding depression is predicted in small populations at equilibrium, primarily due to higher inbreeding rates facilitating purging and/or fixation of deleterious alleles (drift load), but predictions at demographic and genetic disequilibrium are less clear. In this study, we experimentally evaluate how lifetime inbreeding depression and drift load, estimated by heterosis, vary with census (N_c) and effective (estimated as genetic diversity, H_e) population size across six populations of the biennial Sabatia angularis as well as present novel models of inbreeding depression and heterosis under varying demographic scenarios at disequilibrium (fragmentation, bottlenecks, disturbances). Our experimental study reveals high average inbreeding depression and heterosis across populations. Across our small sample, heterosis declined with H_e, as predicted, whereas inbreeding depression did not vary with H_e and actually decreased with N_c. Our theoretical results demonstrate that inbreeding depression and heterosis levels can vary widely across populations at disequilibrium despite similar H_e and highlight that joint demographic and genetic dynamics are key to predicting patterns of genetic load in nonequilibrium systems.     

Genetic structure of Brandt’s vole (<Emphasis Type="Italic">Lasiopodomys brandtii</Emphasis>) populations in Inner Mongolia,China, based on microsatellite analysis

Brandt’s vole (Lasiopodomys brandtii) distribution is discontinuous in Inner Mongolia with some populations isolated from others. Recently, some isolated populations have suffered extinction, and the factors responsible remain elusive. Genetic drift is one of the processes affecting population genetic differentiation, and can play a substantial role in the divergence of small, isolated populations. Using seven microsatellite markers, we genotyped four geographically isolated populations of Brandt’s vole, all of which exhibit episodic fluctuations in population density. The results showed a strong genetic differentiation among the geographically distinct populations (total F _ST = 0.124) and in particular, one population (Zhengxiangbaiqi) was isolated from all others (F _ST values were greatest between Zhengxiangbaiqi and other populations). Furthermore, high levels of inbreeding (F _IS values ranged from 0.205 to 0.290) within each distinct population suggest that inbreeding has and is likely occurring in Brandt’s vole populations. These processes can decrease average individual fitness and consequently increase the risk of extinction of the species.     

Genetic and demographic characteristics of rural populations of Altaĭ republic: dynamics of the marriage structure

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.     

Do estimates of contemporary effective population size tell us what we want to know?

Estimation of effective population size (N_e) from genetic marker data is a major focus for biodiversity conservation because it is essential to know at what rates inbreeding is increasing and additive genetic variation is lost. But are these the rates assessed when applying commonly used N_e estimation techniques? Here we use recently developed analytical tools and demonstrate that in the case of substructured populations the answer is no. This is because the following: Genetic change can be quantified in several ways reflecting different types of N_e such as inbreeding (N_eI), variance (N_eV), additive genetic variance (N_eAV), linkage disequilibrium equilibrium (N_eLD), eigenvalue (N_eE) and coalescence (N_eCo) effective size. They are all the same for an isolated population of constant size, but the realized values of these effective sizes can differ dramatically in populations under migration. Commonly applied N_e‐estimators target N_eV or N_eLD of individual subpopulations. While such estimates are safe proxies for the rates of inbreeding and loss of additive genetic variation under isolation, we show that they are poor indicators of these rates in populations affected by migration. In fact, both the local and global inbreeding (N_eI) and additive genetic variance (N_eAV) effective sizes are consistently underestimated in a subdivided population. This is serious because these are the effective sizes that are relevant to the widely accepted 50/500 rule for short and long term genetic conservation.  The bias can be infinitely large and is due to inappropriate parameters being estimated when applying theory for isolated populations to subdivided ones.     

gesp: A computer program for modelling genetic effective population size,inbreeding and divergence in substructured populations

The genetically effective population size (N_e) is of key importance for quantifying rates of inbreeding and genetic drift and is often used in conservation management to set targets for genetic viability. The concept was developed for single, isolated populations and the mathematical means for analysing the expected N_e in complex, subdivided populations have previously not been available. We recently developed such analytical theory and central parts of that work have now been incorporated into a freely available software tool presented here. gesp (Genetic Effective population size, inbreeding and divergence in Substructured Populations) is R‐based and designed to model short‐ and long‐term patterns of genetic differentiation and effective population size of subdivided populations. The algorithms performed by gesp allow exact computation of global and local inbreeding and eigenvalue effective population size, predictions of genetic divergence among populations (G_ST) as well as departures from random mating (F_IS, F_IT) while varying (i) subpopulation census and effective size, separately or including trend of the global population size, (ii) rate and direction of migration between all pairs of subpopulations, (iii) degree of relatedness and divergence among subpopulations, (iv) ploidy (haploid or diploid) and (v) degree of selfing. Here, we describe gesp and exemplify its use in conservation genetics modelling.     

Epidemiology of monogenic hereditary diseases in Rostov oblast: Population dynamic factors determining the differentiation of the load of hereditary diseases in eight districts

A genetic epidemiological study has been carried out in eight raions (districts) of Rostov oblast (region) of Russia: Tsimlyansk, Volgodonskoi, Tselina, Egorlykskaya, Millerovo, Tarasovskaya, Rodionovo-Nesvetaiskaya, and Matveevo-Kurgan raions. The population structure (the parameters of the isolation by distance model, ethnic assortative marriage, random inbreeding (F _ST), endogamy index, and ie) and the genetic demographic characteristics of the regional population (vital statistics, Crow’s index, and its components) have been analyzed. The total sample size was 320 925 subjects (including 114 106 and 206 816 urban and rural residents, respectively). The load of the main types of Mendelian diseases (autosomal dominant (AD), autosomal recessive (AR), and X-linked diseases) has been calculated for the total sample from eight districts and separately for the urban and rural populations. Substantial differences between individual districts in the AD and AR genetic loads have been found, especially upon separation into urban and rural samples. The results of correlation analysis suggest that migration and genetic drift are the main factors of genetic differentiation of populations with respect to the prevalence of hereditary diseases.     

Effects of inbreeding on the magnitude of inbreeding depression in a highly self-fertilizing tree, Magnolia obovata

Inbreeding depression is one of the major selective forces driving the evolution of mating systems. Previous theories predict that long-lived plants will show a negative correlation between inbreeding depression and the level of inbreeding (as determined by an inbreeding coefficient) at maturity, but the extent of this correlation may vary among life stages because of variation in the genetic basis for inbreeding depression at different stages. To test this prediction, I used electrophoretic allozyme analysis and pollination experiments to examine the fixation index (F _is) at maturity and inbreeding depression in the early and late life stages of two populations with different outcrossing rates of a highly self-fertilizing tree, Magnolia obovata. The magnitude of inbreeding depression for early survival (δ _e) in an outcrossing population (t _m = 0.51; F _is = −0.015) was higher (δ _e = 0.97) than that in an inbreeding population (t _m = 0.18; F _is = 0.15; δ _e = 0.38). From these results, I estimated that both populations exhibited high inbreeding depression for late survival (δ _l) (0.94 in the outcrossing population and 0.93 in the inbreeding one) and lifetime survival (δ _t) (0.99 and 0.96, respectively). My results and previously published data demonstrate the predicted relationship between inbreeding depression and the level of inbreeding for early survival, but not for late survival. This suggests that there is a differential genetic basis for inbreeding depression at different life stages. The inbreeding depression for late survival appears to play a central role in the maintenance of reproductive traits that promote outcrossing in M. obovata.     

Inbreeding and extinction: Effects of rate of inbreeding

Deleterious alleles may be removed (purged) bynatural selection in populations undergoinginbreeding. However, there is controversyregarding the effectiveness of selection inreducing the risk of extinction due toinbreeding, especially in relation to the rateof inbreeding. We evaluated the effect of therate of inbreeding on reducing extinction risk,in populations of Drosophila melanogastermaintained using full-sib mating (160replicates), or at effective population sizes(N _e) of 10 (80) or 20 (80).Extinction rates in the populations maintainedusing full-sib mating occurred at lower levelsof inbreeding than in the larger populations,whereas the two larger populations did notdiffer significantly from each other.Inbreeding coefficients at 50% extinction were0.62, 0.79 and 0.77 for the full-sib (N _e = 2.6), N _e = 10 and N _e = 20 treatments, respectively. Populations of N _e = 20 that remained extant after 60 generations, showed inbreeding depression, with the mean fitness of these populations being only 45% of the outbredcontrols. There was considerable variationamong the 31 inbred populations in fitness, butnone of the N _e = 20 populations hadfitness that was higher than the outbredcontrol. We conclude that purging may slow therate of extinction slightly, but it cannot berelied on to eliminate the deleterious effectsof inbreeding.     

Genetic and demographic characteristics of rural populations of Altai Republic: The marriage structure dynamics

The dynamics of population marriage structure in the period from 1951 to 1997 has been studied in three villages of Altai Republic: Kulada (Ongudaisk raion), Beshpeltir (Chemal raion), and Kurmach-Baigol (Turochak raion). These populations have been found to differ from one another in the intensity and direction of migration, as well a its temporal pattern with respect to the birthplaces and ethnicity of persons contracting marriages. Periods of active incorporation of non-Altaian (mostly Slavic) ethnic components into the gene pools of the Beshpeltir and Kurmach-Baigol populations have been detected. The geographic distributions of the birthplaces of men and women contracting marriages are different. Therefore, migration has different effects on the genetic diversity of the Y-chromosomal and mitochondrial-DNA pools. No isonymic marriages have been found in the Altaian populations studied; however, an increase in the random component of inbreeding has been observed.Translated from Genetika, Vol. 41, No. 2, 2005, pp. 261–268.Original Russian Text Copyright © 2005 by Kucher, Tadinova, Puzyrev.     

Population genetic structure of the European ground squirrel in the Czech Republic

The European ground squirrel (Spermophilus citellus) is considered an endangered species with declining numbers throughout Europe, most pronounced at the western margin of its distribution area. Being extinct in Germany and Poland, the western margin of its distribution is in the Czech Republic. Here, landscape fragmentation has restricted the ground squirrels into few and very isolated localities where local extinctions still occur. In the present study we analysed European ground squirrels from six Czech and one Slovak localities using five microsatellite loci as genetic marker. The results show a strong genetic differentiation among the investigated populations (mean value of F _ST = 0.16) and high levels of inbreeding (values of F _IS ranged from 0.34 to 0.90). High level of inbreeding is generally considered to affect the viability of each population, which could lead to extinction. One of the most important factors is the lack of migration due to the large distances between the populations and the presence of migration barriers. Based on the results obtained we recommend a few suggestions for a conservation management of this species.