Population genetic study of Russian cosmonauts and test subjects: genetic demographic parameters and immunogenetic markers

Genetic demographic characteristics and immunogenetic markers (blood groups ABO, Rhesus, MNSs, P, Duffy, Kidd, and Kell) have been studied in a group of 132 Russian cosmonauts and test subjects (CTSG). Analysis of pedigrees has shown a high exogamy in the preceding generations: almost half of the subjects have mixed ethnic background. According to the results of genetic demographic analysis, a sample from the Moscow population was used as control group (CG). Comparison between the CTSG and CG has demonstrated significant differences in genotype frequencies for several blood group systems. The CTSG is characterized by a decreased proportion of rare interlocus genotypic combinations and an increased man heterozygosity. Analysis of the distributions of individual heterozygosity for loci with codominant expression of alleles has shown that highly heterozygous loci are more frequent in the CTSG. Taking into account that the CTSG has been thoroughly selected from the general population, it is concluded that heterozygosity is related to successful adaptation to a space flight.     

Population genetic study of Russian cosmonauts and test subjects: Genetic demographic parameters and immunogenetic markers

Genetic demographic characteristics and immunogenetic markers (blood groups ABO, Rhesus, MNSs, P, Duffy, Kidd, and Kell) have been studied in a group of 132 Russian cosmonauts and test subjects (CTSG). Analysis of pedigrees has shown a high exogamy in the preceding generations: almost half of the subjects have mixed ethnic background. According to the results of genetic demographic analysis, a sample from the Moscow population was used as control group (CG). Comparison between the CTSG and CG has demonstrated significant differences in genotype frequencies for several blood group systems. The CTSG is characterized by a decreased proportion of rare interlocus genotypic combinations and an increased average heterozygosity. Analysis of the distributions of individual heterozygosity for loci with codominant expression of alleles has shown that the carriers of highly heterozygous genotypes are more frequent in the CTSG. Taking into account that the CTSG has been thoroughly selected from the general population, it is concluded that heterozygosity is related to successful adaptation to a space flight.     

Population demographic history can cause the appearance of recombination hotspots

Although the prevailing view among geneticists suggests that recombination hotspots exist ubiquitously across the human genome, there is only limited experimental evidence from a few genomic regions to support the generality of this claim. A small number of true recombination hotspots are well supported experimentally, but the vast majority of hotspots have been identified on the basis of population genetic inferences from the patterns of linkage disequilibrium (LD) seen in the human population. These inferences are made assuming a particular model of human history, and one of the assumptions of that model is that the effective population size of humans has remained constant throughout our history. Our results show that relaxation of the constant population size assumption can create LD and variation patterns that are qualitatively and quantitatively similar to human populations without any need to invoke localized hotspots of recombination. In other words, apparent recombination hotspots could be an artifact of variable population size over time. Several lines of evidence suggest that the vast majority of hotspots identified on the basis of LD information are unlikely to have elevated recombination rates.     

Population genetic structure and demographic history of the fat greenling Hexagrammos otakii

Fat greenling (Hexagrammos otakii) is an important commercial fish in the Northwestern Pacific, being distributed along the coastal waters of the East/Japan Sea and the Yellow Sea. To investigate population genetic structure and demographic history of this species, one hundred and fifty five individuals were collected from five localities in the distribution range of the species and sequence variations in the mitochondrial genes COI, COIII-ND3-ND4L, and cytochrome b were examined. For all the genes in every sampling location, the nucleotide diversities were very low (0.001 ～ 0.005) although the haplotype diversities were relatively high, 0.55 ～ 0.81 for COI, 0.79 ～ 0.84 for COIII-ND3-ND4L, and 0.95 ～ 0.97 for cytochrome b. Hierarchical analysis of molecular variance (AMOVA), the conventional population statistic FST, and exact test of population differentiation revealed no significant genetic structuring among the samples, indicating that fat greening is panmictic throughout the range of its distribution. Neutrality tests such as Tajima’s D and Fu’s FS statistics and mismatch distribution analyses suggested that fat greening has undergone the demographic history of population expansion during the late Pleistocene period approximately 91,000 ～ 327,000 years ago. The star-burst patterns of haplotype networks and low nucleotide diversities also indicated recent population expansion. These results help establish the fisheries management strategy for fat greenling in the Northwestern Pacific.     

Genetic demographic study of shors in Tashtagolskii raion of Kemerovo oblast: Population dynamics and changes in the sex and age composition

The population dynamics and changes in the sex and age structure of the Shor populations of four rural district municipalities of Tashtagolskii raion of Kemerovo oblast (Kyzyl-Shorskii, Ust-Anzasskii, Ust-Kolzasskii, and Ust-Kabyrzinsskii) with time have been analyzed. The Shor populations have been found to have contained a high proportion of people under 18 years of age during two periods, 1940–1955 and 1970–1975 (38.12–46.38 and 40.98–54.97%, respectively). However, the population reproduction pattern changed into the “reduced” one in all the municipalities studied by the early 2000s. Although there are some regional variations, a common trend towards rural population aging has formed: the man age in the Tashtagolskii raion population has increased by 7.52 and 6.94 years for men and women, respectively, during two generations; the natural sex ratio has been disturbed in both the prereproductive and reproductive populations. The total population size and effective reproductive size have decreased in three out of the four rural subpopulations studied.     

Medical genetic study of the population of Turkmenia. III. Hereditary pathology in Turkmen Nokhurlis

Medical-genetic investigations were carried out in isolated population of Nokhurlis inhabiting some villages of Ashkhabad and Krasnovodsk provinces. A high coefficient of inbreeding, high endogamy, and low coefficients of migration were found for this population. Two hereditary disorders are relatively frequent among the Nokhurlis and lacking in neighboring populations. The frequency of the autosomal dominant gene for congenital cataract is 0.26% and that of the autosomal recessive gene for a peculiar form of obesity is 2.47%. In both cases, the main factor affecting gene accumulation appears to be the result of genetical drift effect. The total load of hereditary diseases of higher in Nokhurlis than in other Turkmen populations. The connection between the population structure of Nokhurlis and the accumulation of hereditary disorders is discussed.     

Population demographic structure of the city of Ulan Ude: Ethnic composition and age at marriage

The marriage structure of the population of Ulan Ude, the capital of Buryat Republic, which is characterized by a mixed ethnic composition, has been studied. Differences between Ulan Ude districts in a number of genetic demographic parameters have been found. In ethnic terms, the city district populations differ from one another in the number of ethnic groups and the proportions of the largest groups (Russians and Buryats). In the total Ulan Ude population, the proportions of Russian men and women among persons contracting marriages are 71.44 and 73.79%, respectively; those of Buryat men and women are 23.36 and 22.79%, respectively. The total proportion of all other ethnic groups among both men and women contracting marriages is no more than 5.2%. The mean ages at first marriage in both indigenous and immigrant populations of Ulan Ude are relatively old; these values are 25.9 and 24.72 years for Buryat men and women and 24.86 and 22.69 for non-indigenous men and women, respectively.     

Population dynamics of small mammals in semi-arid regions: a comparative study of demographic variability in two rodent species

The seasonally determined demographic structure of two semi-arid rodents, both agricultural pest species (the leaf-eared mouse (Phyllotis darwini) in Chile and the multimammate mouse (Mastomys natalensis) in Tanzania), is analysed using capture-mark-recapture (CMR) statistical models and measures for elasticity (the relative change in the growth rate due to a relative unit change in the parameter of concern) derived from projection linear matrix models. We demonstrate that reproduction and survival during the breeding season contribute approximately equally to population growth in the leaf-eared mouse, whereas the multimammate mouse is characterized by a more clearly defined seasonal structure into breeding and non-breeding seasons and that reproduction contributes far more than survival during the breeding season. On this basis, we discuss evolutionary and applied (pest control) issues. Regarding the evolution of life histories (leading to a maximization of the overall net annual growth rate), we suggest that for the leaf-eared mouse, features favouring survival throughout the year will provide selective value, but that during the main breeding season, features favouring reproduction and survival are about equally favourable. For the multimammate mouse, features favouring survival are particularly important outside the breeding season, whereas during the breeding season features favouring reproduction are more important. Regarding pest control (aiming at reducing the overall net annual growth rate), we suggest that (ignoring economic considerations) affecting survival outside the main breeding season is particularly effective for the leaf-eared mouse, a feature that is even more the case for the multimammate mouse. In sum, we demonstrate through this comparative study that much is to be learnt from studying the dynamics of fluctuating small rodents-a focal issue within much of population ecology.     

加拿大-西北大西洋地区掌形藻的种群遗传结构与动态变化

探讨古气候波动(如更新世末期冰期)对典型生物的时空分布和有效种群大小变动的影响是生物地理学和进化遗传学的重要研究课题.本文利用线粒体cox2-3序列和RAPD两种分子标记,对分布于加拿大-西北大西洋地区8个地点(共138个个体)的掌形藻(Palmaria palmata)进行谱系地理学研究,试图阐明当更新世冰期来临时掌形藻如何衍生出适应性的进化机制,并形成当前的地理分布格局.结果表明,线粒体cox2-3间区序列共检测出11个单倍型,其中1个单倍型(C3)在所有种群中都有分布,并位于星状基因谱系的中心位置,可认为是祖先单倍型.St.Lawrence湾内北部的两个种群多样性最高,与其他地理种群分化最明显,这与基于RAPD数据的STRUCTURE聚类分析结果相一致.根据掌形藻遗传多样性及其单倍型谱系结构特征,推测掌形藻在加拿大-西北大西洋沿岸存在多个冰期避难所.分子多态性分析(AMOVA)显示掌形藻的遗传变异主要来自种群内,而St.Lawrence湾和Fundy湾群组间的遗传变异较小.cox2-3序列的Bayesian skyline plots分析结果反映出掌形藻种群在加拿大-西北大西洋沿岸经历了轻微的种群扩张,时间大概在0.18-0.13百万年前.St.Lawrence湾和Fundy湾群组间的K2P遗传距离为0.2％,相应的分化时间大约在0.36百万年前.由此推测,更新世末期的冰期及间冰期是影响掌形藻种群结构及变动的重要古气候环境因子.     

Population genetic structure and demographic history of the endemic Formosan lesser horseshoe bat (Rhinolophus monoceros)

Intraspecific phylogenies can provide useful insights into how populations have been shaped by historical and contemporary processes. Taiwan formed around 5 million years ago from tectonic uplift, and has been connected to mainland Asia several times since its emergence. A central mountain range runs north to south, bisecting the island, and potentially impedes gene flow along an east-west axis. The Formosan lesser horseshoe bat (Rhinolophus monoceros) is endemic to Taiwan, where it is found mainly at low altitude. To determine the population structure and the demographic and colonization history of this species, we examined variation in the mitochondrial DNA control region in 203 bats sampled at 26 sites. We found very high haplotype and nucleotide diversity, which decreased from the centre to the south and north. Population differentiation followed a pattern of isolation by distance, though most regional genetic variance was attributable to differences between the relatively isolated southern population and those from other regions. A haplotype network was consistent with these findings and also suggested a southward colonization, followed by subsequent secondary contact between the south and other regions. Mismatch distributions were used to infer a past population expansion predating the last glacial maximum, and a neighbour-joining tree showed that R. monoceros formed a monophyletic grouping with respect to its sister taxa. Taken together, our results suggest that this taxon arose from a single period of colonization, and that demographic growth followed in the late Pleistocene. Current genetic structure reflects limited gene flow, probably coupled with stepwise colonization in the past. We consider explanations for the persistence of the species through multiple glacial maxima.     

Population structure analyses and demographic history of the malaria vector Anopheles albimanus from the Caribbean and the Pacific regions of Colombia

Background

Artesunate and amodiaquine (AS&AQ) is at present the world's second most widely used artemisinin-based combination therapy (ACT). It was necessary to evaluate the efficacy of ACT, recently adopted by the World Health Organization (WHO) and deployed over 80 countries, in order to make an evidence-based drug policy.

Methods

An individual patient data (IPD) analysis was conducted on efficacy outcomes in 26 clinical studies in sub-Saharan Africa using the WHO protocol with similar primary and secondary endpoints.

Results

A total of 11,700 patients (75% under 5 years old), from 33 different sites in 16 countries were followed for 28 days. Loss to follow-up was 4.9% (575/11,700). AS&AQ was given to 5,897 patients. Of these, 82% (4,826/5,897) were included in randomized comparative trials with polymerase chain reaction (PCR) genotyping results and compared to 5,413 patients (half receiving an ACT). AS&AQ and other ACT comparators resulted in rapid clearance of fever and parasitaemia, superior to non-ACT. Using survival analysis on a modified intent-to-treat population, the Day 28 PCR-adjusted efficacy of AS&AQ was greater than 90% (the WHO cut-off) in 11/16 countries. In randomized comparative trials (n = 22), the crude efficacy of AS&AQ was 75.9% (95% CI 74.6–77.1) and the PCR-adjusted efficacy was 93.9% (95% CI 93.2–94.5). The risk (weighted by site) of failure PCR-adjusted of AS&AQ was significantly inferior to non-ACT, superior to dihydroartemisinin-piperaquine (DP, in one Ugandan site), and not different from AS+SP or AL (artemether-lumefantrine). The risk of gametocyte appearance and the carriage rate of AS&AQ was only greater in one Ugandan site compared to AL and DP, and lower compared to non-ACT (p = 0.001, for all comparisons). Anaemia recovery was not different than comparator groups, except in one site in Rwanda where the patients in the DP group had a slower recovery.

Conclusion

AS&AQ compares well to other treatments and meets the WHO efficacy criteria for use against falciparum malaria in many, but not all, the sub-Saharan African countries where it was studied. Efficacy varies between and within countries. An IPD analysis can inform general and local treatment policies. Ongoing monitoring evaluation is required.     

A genetic and demographic study of hemophilia A in Brazil

A genetic and demographic study was made of patients with hemophilia A in Rio Grande do Sul, Brazil, during a 15-year period. The study comprised 104 patients belonging to 70 pedigrees. Life expectancy at birth increased from 32.2 to 44.5 years, mean age of death from 11.1 to 14.6 years, and survival to maturity from 33 to 38%. However, fertility decreased from an average number of 1.6 to 0.8 children. Among the normal brothers, the average number of offspring was decreased from 2.2 to 1.5 children. The fitness of patients in this population, in spite of the increase of the average life expectancy, was decreased due to the decrease of fertility, from 0.47 to 0.43 using the normal brother as control, and from 0.35 to 0.20 using the general population as control.     

Population structure and demographic inferences concerning the endangered onychophoran species Epiperipatus acacioi (Onychophora: Peripatidae)

Epiperipatus acacioi (Onychophora: Peripatidae) is an endemic species of the Atlantic rainforest in southeastern Brazil, with a restricted known distribution, found only in two nearby areas (Tripuí and Itacolomi). Mitochondrial gene COI sequences of 93 specimens collected across the known range of E. acacioi were used to assess the extant genetic diversity and patterns of genetic structure, as well as to infer the demographic history of this species. We found considerable variability within the populations, even though there has been recent environmental disturbance in these habitats. The samples from the two areas where this species is found showed significantly different COI sequences and constitute two distinct populations [exact test of sample differentiation (P = 0.0008) and pairwise F(ST) analyses (F(ST) = 0.214, P < 0.00001)]. However, there was little genetic differentiation among samples from different sampling sites within populations, suggesting that the potential for dispersal of E. acacioi greater than would have been expected, based on their cryptic behavior and reduced vagility. Mismatch analyses and neutrality tests revealed evidence of recent population expansion processes for both populations, possibly related to variations in the past distribution of this species.     

Population trajectories for the Antarctic bivalve Laternula elliptica: identifying demographic bottlenecks in differing environmental futures

The world’s oceans are changing, and dramatic shifts have been documented in the Southern Ocean. The consequences of these shifts to coastal benthic organisms are difficult to predict at present, as ocean warming may increase primary production and food resources for benthic consumers, whilst OA may have negative impacts that differentially affect various species and life stages. A model was developed to investigate how different scenarios of change may influence population size of the Antarctic bivalve Laternula elliptica. The model describes potential implications of both pH and temperature change on survivorship and reproductive output of a population of this bivalve species in McMurdo Sound, Ross Sea. Implications of increases and decreases in mortality rate across different life stages of the population (early, mid and late) were assessed. Additionally, effects on energetic resource partitioning and dictating reproductive potential (RP) were also investigated. Significant declines in RP, due to increased basal metabolic demand, were associated with even relatively small changes in temperature and pH, resulting in populations declining to 25 % of the starting equilibrium density within 60 years. As L. elliptica is a pivotal species to the functionality of the Antarctic coastal benthic ecosystem, wide spread repercussions are expected if populations are impacted as the model predicts. Although further model development is required to explore the ecosystem implications of the population decline described in this paper, this work allows a better understanding of the consequences of change as soon as data on the direction and magnitude of the changes affecting Antarctic seas become available.