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Background Gene copy number variations (CNVs) contribute to genetic diversity and disease prevalence across populations. Substantial efforts have been made to decipher the relationship between CNVs and pathogenesis but with limited success. Results We have developed a novel computational framework X-CNV (www.unimd.org/XCNV), to predict the pathogenicity of CNVs by integrating more than 30 informative features such as allele frequency (AF), CNV length, CNV type, and some deleterious scores. Notably, over 14 million CNVs across various ethnic groups, covering nearly 93% of the human genome, were unified to calculate the AF. X-CNV, which yielded area under curve (AUC) values of 0.96 and 0.94 in training and validation sets, was demonstrated to outperform other available tools in terms of CNV pathogenicity prediction. A meta-voting prediction (MVP) score was developed to quantitively measure the pathogenic effect, which is based on the probabilistic value generated from the XGBoost algorithm. The proposed MVP score demonstrated a high discriminative power in determining pathogenetic CNVs for inherited traits/diseases in different ethnic groups. Conclusions The ability of the X-CNV framework to quantitatively prioritize functional, deleterious, and disease-causing CNV on a genome-wide basis outperformed current CNV-annotation tools and will have broad utility in population genetics, disease-association studies, and diagnostic screening.

Northwestern China has a wealth of endemic species, which has been hypothesized to be affected by the complex paleoclimatic and paleogeographic history during Quaternary. In this paper, we used Gymnocarpos przewalskii as a model to address the evolutionary history and current population genetic structure of species in northwestern China. We employed two chloroplast DNA fragments (rps16 and psbB-psbI), one nuclear DNA fragment (ITS), and simple sequence repeat (SSRs) to investigate the spatial genetic pattern of G. przewalskii. High genetic diversity (cpDNA: hS = 0.330, hT = 0.866; ITS: hS = 0.458, hT = 0.872) was identified in almost all populations, and most of the population have private haplotypes. Moreover, multimodal mismatch distributions were observed and estimates of Tajima's D and Fu's FS tests did not identify significantly departures from neutrality, indicating that recent expansion of G. przewalskii was rejected. Thus, we inferred that G. przewalskii survived generally in northwestern China during the Pleistocene. All data together support the genotypes of G. przewalskii into three groups, consistent with their respective geographical distributions in the western regions-Tarim Basin, the central regions-Hami Basin and Hexi Corridor, and the eastern regions-Alxa Desert and Wulate Prairie. Divergence among most lineages of G. przewalskii occurred in the Pleistocene, and the range of potential distributions is associated with glacial cycles. We concluded that climate oscillation during Pleistocene significantly affected the distribution of the species.

The tea green leafhopper, Empoasca (Matsumurasca) onukii Matsuda, is one of the dominant pests in major tea production regions of East Asia. Recent morphological studies have revealed variation in the male genitalic structures within and among populations. However, the genetic structure of this pest remains poorly understood. This study explores the genetic diversity and population structure of this pest in nineteen populations from the four main Chinese tea production areas using microsatellite markers, with one Japanese population also examined. The results show low to moderate levels of genetic differentiation with populations grouped into four clusters, i.e. the Jiangbei group, the Southwest group 1, the Southwest group 2 and the South China group. Populations from China have a close phylogenetic relationship but show significant isolation by distance. Lower genetic diversity and genetic differentiation of E. (M.) onukii were found in the Kagoshima population of Japan. Evidence for genetic bottlenecks was detected in the South China and Jiangnan populations. Population expansion was found in the Southwest, Jiangbei and Kagoshima populations. This is the most extensive study of the population genetics of this species and contributes to our understanding of its origin and evolutionary history.

Long-term climate change and periodic environmental extremes threaten food and fuel security1 and global crop productivity2–4. Although molecular and adaptive breeding strategies can buffer the effects of climatic stress and improve crop resilience5, these approaches require sufficient knowledge of the genes that underlie productivity and adaptation6—knowledge that has been limited to a small number of well-studied model systems. Here we present the assembly and annotation of the large and complex genome of the polyploid bioenergy crop switchgrass (Panicum virgatum). Analysis of biomass and survival among 732 resequenced genotypes, which were grown across 10 common gardens that span 1,800 km of latitude, jointly revealed extensive genomic evidence of climate adaptation. Climate–gene–biomass associations were abundant but varied considerably among deeply diverged gene pools. Furthermore, we found that gene flow accelerated climate adaptation during the postglacial colonization of northern habitats through introgression of alleles from a pre-adapted northern gene pool. The polyploid nature of switchgrass also enhanced adaptive potential through the fractionation of gene function, as there was an increased level of heritable genetic diversity on the nondominant subgenome. In addition to investigating patterns of climate adaptation, the genome resources and gene–trait associations developed here provide breeders with the necessary tools to increase switchgrass yield for the sustainable production of bioenergy., The genome of the biofuel crop switchgrass (Panicum virgatum) reveals climate–gene–biomass associations that underlie adaptation in nature and will facilitate improvements of the yield of this crop for bioenergy production.

Objective To understand the genetic diversity and molecular epidemiology characteristics of group A Rotavirus (RVA) in domestic sewage through next generation sequencing (NGS), and to explore the feasibility and necessity of NGS method for RVA environmental surveillance. Methods In this study, two sewage samples from Jinan each quarter in 2019 were selected for concentration, RNA extraction, and then RT-PCR reaction. The amplified positive products were subjected to NGS. Finally, the results were analyzed for diversity and phylogeny. Results A total of 9 G-genotypes and 13 P-genotypes were detected. The Simpson diversity indices in autumn and winter were relatively high. Phylogenetic analysis showed that the dominant types G9 and P[8] were closely related to human-derived sequences. Conclusions This study proves that environmental surveillance as a means to understand the prevalence of RVA in the population is not only feasible but necessary. NGS based environmental surveillance greatly improves our understanding on RVA genetic diversity, and should be encouraged as a sensitive surveillance tool.

Aim: To estimate genetic diversity of 23 STR loci included in the DNA TyperTM 25 Kit, and evaluate its effectiveness in forensic application.Subjects and methods: A total of 450 (251 males and 179 females) unrelated healthy individuals from Guangxi Zhuang population were amplified with DNA TyperTM 25 Kit, isolated by the 3730 Series Genetic AnalyzerTM, and genotyped using the GeneMapper ID-X. Genetic parameters and population relationships were analysed.Results: Allele frequencies ranged from 0.001 to 0.5889. The combined power of discrimination (CPD) and the combined power of exclusion (CPE) of the 23 STR loci were 0.999999999999999999 and 0.999996765, respectively. No deviations from Hardy-Weinberg equilibrium and linkage disequilibrium were observed. Inter-population comparison based on Fst, PCA, genetic distance, phylogenetic trees, and MDS showed that Zhuang population clustered with the populations holding a close geographic distance with Zhuang (Guangdong Han and Hainan Li populations).Conclusions: Our study indicated that the 23 autosomal STR loci included in DNA TyperTM 25 Kit can be used as forensic tools for individual identification and parentage testing. Moreover, the result of our mass investigation will enrich the forensic database of Chinese populations and serve for further study of the origin of anthropology.

The spotted lanternfly, Lycorma delicatula (White) (Hemiptera: Fulgoridae), is a polyphagous pest originating in China and now widely distributed in Asian countries. This is one of the more serious forestry pests with a broad host range and causes significant economic losses. Molecular comparison has been used to investigate this pest&rsquo, s origin in China, and recent studies have explored the genetic structure among populations in Korea. However, the population structure of this pest in China remains poorly understood. In this study, 13 microsatellite markers and two mitochondrial markers (from nicotinamide adenine dinucleotid (NADH) dehydrogenase subunit 2 (ND2) and NADH dehydrogenase subunit 6 (ND6) regions) were used to reveal the origins and dispersal of L. delicatula based on a genetic analysis of Chinese populations from eight locations. Results show a low to high level of genetic differentiation among populations and significant genetic differentiation between both two clusters and four clusters. The network and phylogenetic analyses for mitochondrial haplotypes and population structure analyses for microsatellite datasets suggest that there is potential gene flow between geographical populations. The populations from Zhejiang and Fujian provinces may come from the other geographical populations in north China. The populations from Beijing, Henan, and Anhui provinces were regarded as the major source of migrants with a high number of migrants leaving (the effective number of migrants (Nem) = 24.40) and the low number of migrants entering (Nem = 2.05) based on the microsatellite dataset, where significant asymmetrical effective migrants to the other populations were detected by non-overlapping 95% confidence intervals.

Background: Wild rodents are the intermediate hosts of Toxoplasma gondii. The distribution of genetic diversity of T. gondii in wild rodents is of importance to understand the transmission of this parasite. This study aimed to genetically characterize T. gondii isolates from wild rodents in Sichuan province, southwestern China in 2013. Methods: Genomic DNA was extracted from 10 g wild rodents’ brain samples. Semi-nested PCR and multilocous PCR-RFLP technology were performed to examine genetic diversity of T. gondii isolates as described previously. Results: Overall, 181 brain tissues of different wild rodents, including Eothenomys miletus (n=88), Crocidura attenuate (n=9), Rattus rattus sladeni (n=46), Mus musculus Linnaeus (n=6) and R. niviventer (n=32) were tested for T. gondii DNA, respectively. Six of them were positive for the T. gondii B1 gene by semi-nested PCR amplification, 4 showed complete genotyping results for all 11 polymorphic loci (SAG1, SAG2, alt. SAG2, SAG3, BTUB, GRA6, L358, PK1, C22-8, C29-2 and Apico) by PCR-RFLP, determined to represent a potential new genotype (http://toxodb.org/toxo/). Conclusion: These results documented genetic characterization of T. gondii in wild rodents from Sichuan province, and enriched the genetic diversity of T. gondii in China.

Pteroceltis tatarinowii (Cannabaceae), a relic tree endemic to China, is mainly distributed in limestone mountains and has a wide geographical range. In this study, 12 microsatellite primer pairs were assayed to analyse the genetic pattern and gene flow among 461 individuals sampled from 23 wild populations of P. tatarinowii. A high level of genetic diversity was detected based on high values of total alleles (159), the number of alleles (NA = 6.373), expected heterozygosity (HE = 0.696) and observed heterozygosity (HO = 0.679). The high genetic diversity in this species may be attributed to its long‐life history, wide geographical distribution and wind dispersal. Only low genetic differentiation (GST = 0.137, FST = 0.138) was found among populations. Gene flow (migrants per generation, Nₘ) was estimated to be 1.56. This moderate level of gene flow possibly decrease interpopulation differentiation by buffering against genetic drift and improving gene exchange. However, spatial genetic structure was detected throughou the sampled range of the species (r = 0.311, p < 0.05) as well as in southern China (r = 0.453, p < 0.05), and may be related to terrain heterogeneity and the demographic history of P. tatarinowii. The east‐west high mountains of southern China might serve as physical barriers to seed and pollen flow. The isolation and local adaptation of different refugia may further limit gene flow. In addition, geographically remote populations might fail to effectively disperse pollen and seeds. Based on the above‐mentioned results, some suggestions for the conservation of the species are presented.

Tugarinovia (Family Asteraceae) is a monotypic genus. It’s sole species, Tugarinovia mongolica Iljin, is distributed in the northern part of Inner Mongolia, with one additional variety, Tugarinovia mongolica var ovatifolia, which is distributed in the southern part of Inner Mongolia. The species has a limited geographical range and declining populations. To understand the phylogeographic structure of T. mongolica, we sequenced two chloroplast DNA regions (psbA-trnH and psbK-psbI) from 219 individuals of 16 populations, and investigated the genetic variation and phylogeographic patterns of T. mongolica. The results identified a total of 17 (H1-H17) chloroplast haplotypes. There were no haplotypes shared between the northern (T. mongolica) and southern groups (T. mongolica var. ovatifolia), and they formed two distinct lineages. The regional split was also supported by AMOVA and BEAST analyses. AMOVA showed the main variation that occurred between the two geographic groups. The time of divergence of the two groups can be dated to the early Pleistocene epoch, when climate fluctuations most likely resulted in the allopatric divergence of T. mongolica. The formation of the desert blocked genetic flow and enhanced the divergence of the northern and southern groups. Our results indicate that the genetic differences between T. mongolica and T. mongolica var. ovatifolia are consistent with previously proposed morphological differences. We speculate that the dry, cold climate and the expansion of the desert during the Quaternary resulted in the currently observed distribution of extant populations of T. mongolica. In the northern group, the populations Chuanjinsumu, Wuliji and Yingen displayed the highest genetic diversity and should be given priority protection. The southern group showed a higher genetic drift (FST = 1, GST = 1), and the inbreeding load (HS = 0) required protection for each population. Our results propose that the protection of T. mongolica should be implemented through in situ and ex situ conservation practices to increase the effective population size and genetic diversity.

Premise of the Study Psammosilene tunicoides (Caryophyllaceae) is a narrowly distributed and endemic plant species in southwestern China. The overexploitation of natural P. tunicoides has led to the destruction of many populations. Population and genetic studies will provide crucial data for the protection and management of P. tunicoides. In this study, we develop simple sequence repeat markers of P. tunicoides to analyze population diversity. Methods and Results Microsatellite loci of P. tunicoides were isolated with FIASCO. Eleven polymorphic and 10 monomorphic primers were developed. The 11 polymorphic primers were tested in three P. tunicoides populations, yielding two to nine alleles per locus. Levels of observed heterozygosity varied from 0.000 to 1.000, and levels of expected heterozygosity ranged from 0.000 to 0.615. In addition, three of these loci were successfully amplified, and showed polymorphism, in three Silene species. Conclusions These microsatellite markers can be valuable tools to investigate the genetic diversity and population structure of P. tunicoides.

To explore the influence of vicariance on differentiation patterns of taxa in arid regions, we systematically assessed the genetic diversity and variability of Capparis spinosa , a typical xerophyte that is widely distributed in the Tianshan Mountains and adjacent areas. In total, 300 individuals from 25 populations were sampled, and 14 haplotypes were identified using two cpDNA sequences ( rpS 12- rpL 20 and ndh F). A high level of total genetic diversity ( H T = 0.859) was detected, and this was attributed to the extensive distribution range, which included numerous large populations. The SAMOVA results suggested that the 25 populations were clustered into 4 major geographical groups; a similar divergence trend was found by constructing a BEAST phylogenetic tree and a network diagram. The AMOVA results revealed that significant genetic differentiation occurred among groups. Our results indicated a considerable correlation between genetic divergence and geographical distribution. Isolation due to complex mountain and desert geography might limit gene exchange between disjunct populations, resulting in high differentiation between geographical groups.

To investigate the Ns genome donor of Leymus and to elucidate the origin of Xm genome of Leymus, Random Amplified Polymorphic DNA (RAPD) markers were used to analyze 13 Leymus accessions, together with 14 taxa from related Triticeae genera. A total of 156 clear and reproducible DNA fragments were amplified by 24 RAPD primers, among which 154 fragments (98.72%) were found to be polymorphic. The main results showed as following: (1) the Leymus species were clustered together first, and there is the closest phylogenetic relationship between L. akmolinensis and L. angustus; (2) Leymus species have Ns genome, which come from Psathyrostachys, and different Psathyrostachys species could serve as the donor for different Leymus species; (3) The partial Leymus species had a close phylogenetic relationship with Hordeum chilense, Australopyrum retrofractum, Lophyrum elongatum.

To investigate the influence of climate aridification and oscillations on the genetic diversity and evolutionary processes of organisms in the Quaternary in north-western China, we selected Nitraria roborowskii and N. sphaerocarpa and examined the geographical apportionment of genetic variation in their vast range. In the study, 21 plastid haplotypes were identified in N. roborowskii based on two plastid DNA regions. We found significant genetic differentiation between populations in both N. roborowskii and N. sphaerocarpa. We also found similar phylogeographical patterns of allopatric divergence and regional range expansion in both species, but the degree of allopatric divergence in N. roborowskii was lower. Finally, areas to the south of the Alxa Desert, the Hexi Corridor and Ningxia Province were identified as possible refugia for N. roborowskii.

Phylogeographic patterns of Ammopiptanthus in northwestern China were examined with internal transcribed spacer (ITS) and three chloroplast intergenic spacers (trnH–psbA, trnL–trnF, and trnS–trnG). Two ITS genotypes (a–b) and 8 chloroplast haplotypes (A–H) were detected. Both ITS genotypes and chloroplast lineages were split in two geographic regions: western Xinjiang and the Alxa Desert. This lineage split was also supported by AMOVA analysis and the Mantel test. AMOVA showed that 89.81 % of variance in Ammopiptanthus occurred between the two geographic regions, and correlation between genetic distances and geographical distances was significant (r = 0.757, p < 0.0001). All populations in western Xinjiang shared haplotype A with high frequency, and range expansion was strongly supported by negative Fu’s FS value, and mismatch distribution analysis, whereas populations in the Alxa Desert had higher genetic diversity and structure. We speculate that the cold and dry climate during the early Quaternary fragmented habitats of the species, limiting gene flow between regions, and interglacial periods most likely led to the range expansion in western Xinjiang. The low genetic diversity of Ammopiptanthus indicate a significant extinction risk, and protective measures should be taken immediately.

Rodents play an important role in the transmission of Toxoplasma gondii; however, little is known about the seroprevalence and genetic diversity of T. gondii infection in rodents in Yunnan Province, China. In this study, we examined the seroprevalence and genetically characterized T. gondii infection in naturally infected rodents in Yunnan Province between March and July 2016. In total, 261 serum samples were collected from rodents in the Jingha district, Xishuangbanna Dai Autonomous Prefecture, Yunnan Province, and examined for T. gondii antibodies by modified agglutination test (MAT) at a 1:20 cut-off, with titers of 1:20 in 24 samples, 1:40 in 10, 1:80 in 10, and 1:160 in 4. Thirty-two of 261 (12.26%) serum samples were positive for T. gondii by MAT. In total, 751 rodent brain samples were examined by semi-nested PCR; 46 (6.13%) were positive for the T. gondii B1 gene, 2 of which showed complete genotyping results for all 11 polymorphic loci (SAG1, SAG2, alt.SAG2, SAG3, BTUB, GRA6, L358, PK1, C22-8, C29-2, and Apico). The 2 samples were characterized to represent ToxoDB#137 ( http://toxodb.org/toxo/ ). These findings enriched the epidemiological and genetic diversity of T. gondii in China and have implications for the better prevention and control of T. gondii infection in humans and animals.

To investigate the effect of past climate oscillations on the genetic diversity and demographic history of organisms in the Horqin sandlands, at the margin of the monsoonal zone in northern China. We selected Atraphaxis manshurica as a model and examined the spatial genetic structure in populations of this species across most of its covered range. Five haplotypes were identified on the basis of two chloroplast DNA sequences (psbK-psbI and psbB-psbH) in 127 individuals from 11 natural populations. The total genetic diversity (HT = 0.437) of A. manshurica is low compared with species to the west in arid northwestern China, outside of monsoonal influence. Analysis of molecular variance (AMOVA) indicates that genetic differentiation primarily occurred among two geographical groups distinguished by spatial analysis of molecular variance (SAMOVA). The BEAST molecular clock approach revealed that genetic divergence of the species mostly occurred in middle-late Pleistocene, in accordance with the periodic glacial periods and accompanying monsoonal changes. From species distribution modeling (SDM), we found that the species experienced range contraction and southward retreat during the Last Glacial Maximum (LGM). The current genetic pattern and demographic history may have thus been shaped by glacial–interglacial cycles and changes of habitat since the middle Pleistocene.

Plastome-genome incompatibility (PGI) is prevalent in several plants including the Zantedeschia species, a worldwide commercial flower crop native to South Africa. Generally, hybrids suffering from PGI appear less vigorous and more susceptible than normal plants. Previous reports revealed that the PGI level in interspecific hybrids is correlated with the relatedness of the parental species in the genus Zantedeschia. To provide a basis for utilizing and improving resources in breeding programs, a total of 117 accessions of colored calla lily (Zantedeschia hybrid), collected from New Zealand, the Netherlands and the United States, were genotyped using 31 transferable expressed sequence tags-simple sequence repeats (EST-SSR) markers from the white calla lily (Zantedeschia aethiopica). A moderately high level of genetic diversity was observed, with 111 alleles in total, an observed/expected heterozygosity (Ho/He) of 0.453/0.478, and polymorphism information content (PIC) of 0.26. Genetic distance and STRUCTURE-based analysis further clustered all accessions into four subgroups (G-Ia, G-Ib, G-IIa and G-IIb), which mostly consisted of Zantedeschia pentlandii, Zantedeschia elliotiana, Zantedeschia albomaculata and Zantedeschia rehmannii, respectively. Significant genetic differentiation was observed between all inferred subgroup pairs, with the Fst ranging from 0.142 to 0.281. Finally, the accessions assigned into G-IIb (Z. rehmannii) were recommended as top priority parents in efficient Zantedeschia breeding program designs.

Radish is an important vegetable crop that is widely distributed throughout the world. Because of the long cultivation history, radish is morphologically diverse and a large number of cultivars with widely varying morphology, especially in root shapes, sizes, skin, and flesh colors, are produced. According to the morphology of its edible root and its intended uses, cultivated radishes are classified into five main varieties. Radish has a wide range of genetic diversity which provides a tremendous scope for genetic improvement of economic traits. Studies on DNA polymorphisms and genetic diversity of radish help us to determine the genetic relationship between radish cultivars and to understand the origin and evolution of this species. In the past two decades, various molecular tools provide easy, less laborious means for identifying the DNA polymorphisms and genetic diversity of radish. Here, we review recent research on the DNA polymorphisms, including cytoplasmic and nuclear genomes, summarize the genetic relationship between wild and cultivated radishes, and discuss the origin and evolution of Raphanus according to their genetic diversity.

To investigate the genetic diversity and phylogenetic relationships between polyploid Leymus and related diploid species of the Triticeae tribe, inter-simple sequence repeats (ISSR) markers was used to analyze 41 Leymus accessions representing 22 species and 2 subspecies, together with Pseudoroegneria stipifolia (St), Psathyrostachys fragilis (Ns), Australopyrum retrofractum (W), Hordeum bogdanii, H. chilense (H) and Lophopyrum elongatum (Ee). A total of 376 clear and reproducible DNA fragments were amplified by 29 ISSR primers, among which 368 (97.87%) fragments were found to be polymorphic. 8–18 polymorphic bands were amplified by each polymorphic primer, with an average of 12.69 bands. The data of 376 ISSR bands were used to generate Nei’s similarity coefficients and to construct a dendrogram by means of UPGMA. The similarity coefficients data suggested great genetic diversity in genus Leymus and related diploid Triticeae species, the genetic diversity among the different species more abundant than that of the different accessions. The dendrogram and principal coordinate analysis showed explicit interspecific relationships and demonstrated close phylogenetic relationships between Leymus species and Psathyrostachys.

Larix Mill., a boreal forest genus, distributes in Eurasia and North America. Larix sibirica and some related species of this genus have wide distributions in the northeastern, northwestern and southwestern regions of China. To elucidate the response of populations to different regional historical events, we investigated the spatial genetic structures and the divergence time of genotypes in these Larix species based on two cpDNA fragments. To approach this question, we have also modelled the change of glacial-interglacial distributions for populations in different regions using the species distribution modelling. The results of analyses of molecular variance indicate genetic variation mainly occurred between three isolated regions (74.4%). Distributions of Larix have possibly undergone contractions during the Last Glacial Maximum (LGM) period in comparison with their present-day distributions in all three regions. Recent rapid uplift of Qinghai-Tibet Plateau likely promoted the high level of genetic diversity (π = 0.69 × 10 −3 , Hd = 0.711) and Plio-Pleistocene (1.9–2.7 Ma) lineage divergence in the southwestern region. Founder effect and genetic drift accompanied by postglacial colonizations are expected to shape one dominated haplotype and southern LGM distribution in the northeastern region. Quaternary Glacial period is also speculated to trigger low level of genetic diversity (π = 0.09 × 10 −3 , Hd = 0.133) in the northwestern region. Disjunction of L. sibirica and lineage divergence at about 1.6 Ma in the Altai Mountains and the eastern Tianshan Mountains are related to the enhanced aridity in the Asian interior and the desert expansion in Dzungarian Basin during the early Pleistocene.

Climatic fluctuations during the Quaternary significantly affect many species in their intraspecific divergence and population structure across northwest China. In order to investigate the impact of climate change on herbaceous plants, we studiedPanzerina lanata(Lamiaceae), a widely distributed species. Sequences of two chloroplast DNA (cpDNA) intergenic spacers (trnH-psbAandrpoB-trnC) and a nuclear ribosomal region (nrDNA, ITS) were generated from 27 populations ofPanzerina lanataand resulted in the identification of seven chloroplast haplotypes and thirty-two nuclear haplotypes. We applied AMOVA, neutrality test and mismatch distribution analysis to estimate genetic differentiation and demographic characteristics. The divergence times of the seven cpDNA haplotypes were estimated using BEAST. Our results revealed high levels of genetic diversity (cpDNA:Hcp = 0.6691,HT= 0.673; nrDNA:Hnr = 0.5668, HT= 0.577). High level of genetic differentiation (GST= 0.950) among populations was observed in the cpDNA sequences, while the genetic differentiation values (GST= 0.348) were low in nuclear sequences. AMOVA results revealed major genetic variation among the three groups: northern, central, and eastern group. However, the genetic differentiation in ITS data was not found. The species distribution modeling and demographic analysis indicated thatP. lanatahad not experienced recent range expansion. The occurrence of divergence between seven cpDNA haplotypes, probably during Pleistocene, coincides with aridification and expansion of the desert across northwest China that resulted in species diversification and habitat fragmentation. In addition, we discovered that the deserts and the Helan Mountains acted as effective geographic barriers that promoting the intraspecific diversity ofP. lanata.

To investigate the phylogeographic structure of Ribes meyeri (Saxifragaceae) in northwestern China, we sequenced two cpDNA intergenic spacers ( psb A- trn H, psb K- psb I) in 237 individuals from 30 natural populations across the species range. A total of 20 haplotypes were identified. High levels of haplotype diversity ( h = 0.8377) and total genetic diversity ( H T = 0.857) were detected at the species level, whereas low levels of diversity ( H s = 0.332) in intra-population, high levels of genetic divergence ( G st = 0.613, N st = 0.855, F st = 0.796), and significant phylogeographic structure ( N st > G st, P

Oncomelania hupensis is the unique intermediate host of Schistosoma japonicum, which plays a key role in the transmission of human blood fluke Schistosoma. The complete mitochondrial (mt) genome of O. hupensis has been characterized; however, the phylogenetic performance of mt protein-coding genes (PCGs) of the snail remain unclear. In this study, 11 whole mt genomes of snails collected from four different ecological settings in China and the Philippines were sequenced. The mt genome sizes ranged from 15 183 to 15 216 bp, with the G + C contents from 32.4% to 33.4%. A total of 15 251 characters were generated from the multiple sequence alignment. Of 2711 (17.8%) polymorphic sites, 56.22% (1524) were parsimony sites. The mt genomes' phylogenetic trees were reconstructed using minimum evolution, neighbor joining, maximum likelihood, maximum parsimony, and Bayesian tree estimate methods, and two main distinct clades were identified: (i) the isolate from mountainous regions; (ii) the remaining isolate which included three inner branches. All phylogenetic trees of the 13 PCGs were generated by running 1000 bootstrap replicates and compared with the complete mtDNA tree, the classification accuracy ranging from 21.23% to 87.87%, the topological distance of phylogenetic trees between PCGs ranging from 5 to 14. Therefore, the performance of PCGs can be divided into good condition (COI, ND2, ND5, and ND3), medium (COII, ATP6, ND1, ND6, Cytb, ND4, and COIII), poor (ATP8 and ND4L). This study represents the first analysis of mt genome diversity of the O. hupensis snail and phylogenetic performance of mt PCGs. It presents clear evidence that the snail populations can be separated into four landscape genetic populations in mainland China based on whole mt genomes. The identification of the phylogenetic performance of PCGs provides new insight into the intensive genetic diversity study using mtDNA markers for the snail.

To investigate the influence of climate aridification and oscillations on the genetic diversity and evolutionary processes of organisms in the Quaternary in north-western China, we selected Nitraria sphaerocarpa and examined the phylogeographical structure and response to historical and environmental factors in populations of this species across most of its covered range. We found twelve haplotypes on the basis of two chloroplast DNA sequences (trnH-psbA and rpl32-trnL). The drying climate during the Quaternary is proposed to have been a driver for significant genetic isolation and divergence among populations in N. sphaerocarpa. Except for the sharing of haplotype D between the Hami Basin and Hexi Corridor, as well as of haplotype F between the Hexi Corridor and Alxa Desert, network analysis showed haplotypes to be almost completely different from region to region. Analysis of molecular variance indicated that genetic variation primarily occurred among populations and among nine geographical groups that were distinguished by spatial analysis of molecular variance, and a Mantel test showed that the correlation between genetic and geographical distances was significant. On the other hand, there was evidence for the occurrence of an episode of more favourable conditions in some regions. Geographical range expansion of two groups of N. sphaerocarpa populations was supported by significant values for Fu's FS and unimodel mismatch distributions. During the last interglacial period, a warmer and wetter climate contributed to range expansion within portions of the Hexi Corridor. By contrast, based on ecological niche modelling, N. sphaerocarpa was indicated to have had a shrunken and more fragmented range during the Last Glacial Maximum. © 2013 The Linnean Society of London, Biological Journal of the Linnean Society, 2013, 109, 757–770.

Soybean, an important source of vegetable oils and proteins for humans, has undergone significant phenotypic changes during domestication and improvement. However, there is limited knowledge about genes related to these domesticated and improved traits, such as flowering time, seed development, alkaline-salt tolerance, and seed oil content (SOC). In this study, more than 106,000 single nucleotide polymorphisms (SNPs) were identified by restriction site associated DNA sequencing of 14 wild, 153 landrace, and 119 bred soybean accessions, and 198 candidate domestication regions (CDRs) were identified via multiple genetic diversity analyses. Of the 1489 candidate domestication\ud genes (CDGs) within these CDRs, a total of 330 CDGs were\ud related to the above four traits in the domestication, gene ontology (GO) enrichment, gene expression, and pathway analyses. Eighteen, 60, 66, and 10 of the 330 CDGs were significantly associated with the above four traits, respectively. Of 134 traitassociated CDGs, 29 overlapped with previous CDGs, 11 were consistent with candidate genes in previous trait association studies, and 66 were covered by the domesticated and improved quantitative trait loci or their adjacent regions, having six common CDGs, such as one functionally characterized gene Glyma15 g17480 (GmZTL3). Of the 68 seed size (SS) and SOC CDGs, 37 were further confirmed by gene expression analysis. In addition, eight genes were found to be related to artificial selection\ud during modern breeding. Therefore, this study provides an\ud integrated method for efficiently identifying CDGs and valuable information for domestication and genetic research.

Background Tea green leafhopper is one of the most dominant pests in Chinese tea plantations. Recent evidence, including morphological and molecular data, revealed that tea green leafhopper in China is the same species as in Japan, Empoasca (Matsumurasca) onukii Matsuda. Previous morphological study that revealed variation in the structure of the male genitalia within and among populations of this species suggested that there may be significant population-level genetic variation. To provide powerful molecular markers to explore the population genetic diversity and population genetic structure of this pest in China, microsatellite markers were obtained by AFLP of sequences containing repeats (FIASCO). Results Eighteen polymorphic markers were evaluated for five populations of E. (M.) onukii, Two related empoascine leafhopper species were selected to test the transferability of the markers. Population genetic structure of E. (M.) onukii was detected using Structure analysis, principal coordinate analysis (PCoA) and variance analysis. The identified markers were polymorphic with total number of alleles ranging from 6 to 24 per locus, observed and expected heterozygosity ranged from 0.133 to 0.9 and 0.183 to 0.926, respectively, and the polymorphic information content value over all populations varied from 0.429 to 0.911. Conclusions This is the first study to demonstrate that microsatellite markers provide valuable information for genetic structure of E. (M.) onukii in Chinese tea plantations. There is obvious genetic differentiation between the two populations in the Southwest tea area. These microsatellite markers will be the powerful tools for genetic studies of E. (M.) onukii and improve understanding of the microevolution of this species. Electronic supplementary material The online version of this article (doi:10.1186/s12863-016-0420-3) contains supplementary material, which is available to authorized users.

The aim of this study was to analyze the genetic profiles of 14 killer cell immunoglobulin-like receptor (KIR) genes and 2 pseudogenes of 124 individuals from Tujia ethnic minority residing in Enshi Tujia and Miao autonomous prefecture of Hubei province of China and investigate the genetic relationships between the Tujia ethnic minority and other reported groups for the first time. Sequence specific primer amplification (PCR-SSP) methods were used to genotype the 14 KIR genes and 2 pseudogenes. The observed carrier frequencies (OF) and the gene frequencies (GF) of the KIR genes were measured. Neighbor-joining (N-J) tree and the principal component analysis (PCA) plot were constructed. All individuals were typed positive for the three framework loci KIR3DL3, 2DL4 and 3DL2, as well as for pseudogene KIR3DP1. The gene frequencies of the other KIR genes ranged from 9% in KIR2DS2 to 98% in KIR2DP1 and KIR3DL1. The present study of the KIR genes may be a powerful tool for enriching the Chinese ethnical gene information resources of the KIR gene pool, as well as for the anthropological research.

Gymnocarpos przewalskii is restricted mainly to the arid desert areas of northwestern China, and is listed as a rare and endangered species of second conservation priority in the China Red Data Book. A phylogeographic study was conducted using two chloroplast regions (psbA–trnH and ycf6–psbM), together with various population genetic analyses, to examine genetic variation, population structure, and evolutionary history of the species. In all, 25 haplotypes were detected, 14 of which were found in the northwestern Tarim Basin of southern Xinjiang Autonomous Region. G. przewalskii showed high levels of total genetic diversity (h T = 0.849) and average gene diversity within populations (h S = 0.350). A higher N ST than G ST (P

The monotypic genus Platycarya (Juglandaceae) is one of the most widespread temperate tree species in East Asia. In this research, we implemented a phylogeographical study using chloroplast DNA (cpDNA) (psbA-trnH and atpB-rbcL intergenic spacer) sequences on Platycarya strobilacea, in order to identify the locations of the species' main refugia and migration routes. A total of 180 individuals of P. stobilacea from 27 populations from China and Jeju Island (Korea) were collected. The results revealed that P. strobilacea had 35 haplotypes for the two intergenic spacers and high genetic diversity (hT =0.926). This surprisingly high diversity of haplotypes indicates its long evolutionary history, which is in agreement with previous phylogenetic analyses and fossil records. Significant cpDNA population subdivision was detected (GST = 0.720; NST = 0.862), suggesting low levels of recurrent gene flow through seeds among populations and significant phylogeographical structure (NST > GST, P < 0.05). The construction of phylogenetic relationships of the 35 chlorotypes detected four major cpDNA clades. Divergence dating analyses using BEAST suggest that the divergence of the major cpDNA clades occurred before the Miocene. Demographic analysis indicated that the Eastern clade underwent localized demographic expansions. The molecular phylogenetic data, together with the geographic distribution of the haplotypes, suggest the existence of multiple glacial refugia in most of its current range in China through Quaternary climatic oscillations.

Clematis sibirica, a woody vine occurring primarily under conifer forests, is widespread in northern Eurasia. In this study, we intend to illustrate how the taxon has responded in the area of the Tianshan and Altai Mountains of Central Asia to the Pleistocene climatic fluctuations. The chloroplast intergenic spacer psbA-trnH was sequenced for 125 individuals from 28 populations, and a total of eight chlorotypes were identified. The presence of definite phylogeographic structure was detected for the species (NST > GST, P < 0.001), and phylogenetic analysis indicated that the eight chlorotypes were clustered into two divergent lineages. They split at approximately 550–690 ka BP, according to coalescence analysis, coincident with the Pleistocene maximum glacial stage in these mountains, which suggests the restriction of these lineages to separate refugia at that time. Spatial analysis of molecular variance likewise divided the sampled populations into two associations, an Altai and eastern Tianshan group (populations 1–17), and a western Tianshan group (populations 18–28). Low levels of genetic diversity and unimodal mismatch distributions were obtained for both of these groups, suggesting postglacial range expansions. During the course of these expansions, mountain ranges surrounding the Dzungarian Basin probably served as migration corridors. In addition, a contact zone was identified in the central Tianshan and eastern Altai Mountains between the two phylogeographic lineages.

As the causative agent of classical swine fever, the economically devastating swine disease worldwide, classical swine fever virus (CSFV) is currently classified into the 11 subgenotypes, of which subgenotype 2.1 is distributed worldwide and showing more genetic diversity than other subgenotypes. Prior to this report, subgenotype 2.1 was divided into three sub-subgenotypes (2.1a-2.1c). To further analyze the genetic diversity of CSFV isolates in China, 39 CSFV isolates collected between 2004 and 2012 in two Chinese provinces Guangxi and Guangdong were sequenced and subjected to phylogenetic analysis together with reference sequences retrieved from GenBank. Phylogenetic analyses based on the 190-nt and/or 1119-nt full length E2 gene fragments showed that current CSFV subgenotype 2.1 virus isolates in the world could be divided into 10 sub-subgenotypes (2.1a-2.1j) and the 39 isolates collected in this study were grouped into 7 of them (2.1a-2.1c and 2.1g-2.1j). Among the 10 sub-subgenotypes, 2.1d-2.1j were newly identified. Sub-subgenotype 2.1d isolates were circulated only in India, however the rest 9 sub-subgenotypes were from China with some of them closely related to isolates from European and neighboring Asian countries. According to the temporal and spatial distribution of CSFV subgenotype 2.1 isolates, the newly classified 10 sub-subgenotypes were further categorized into three groups: dominant sub-subgenotype, minor sub-subgenotype and silent sub-subgenotype, and each sub-subgenotype can be found only in certain geographical areas. Taken together, this study reveals the complex genetic diversity of CSFV subgenotype 2.1 and improves our understanding about the epidemiological trends of CSFV subgenotype 2.1 in the world, particularly in China.

SMLS (Sitobion miscanthi L type symbiont) is a recently discovered aphid secondary symbiont. Using evidence extracted from 16S rRNA sequences, previous studies indicate that SMLS is the most widely distributed and most recently transferred secondary symbiont in Chinese Sitobion miscanthi populations. Here, we further investigated genetic diversity among SMLS geographic strains with multiloci data. Furthermore, the influence of SMLS on S. miscanthi was uncovered with ecological and evolutionary evidence. The results indicated that there was limited influence of infection with SMLS on variation and evolutionary patterns of S. miscanthi mitochondrial DNA. By hemolymph injection, the SMLS-infected and SMLS-uninfected S. miscanthi clones with the identical genetic background were built in this study. Although similar Buchnera aphidicola dynamics were observed between SMLS-infected and SMLS-uninfected S. miscanthi population, B. aphidicola density of SMLS-infected S. miscanthi population was always significantly higher than SMLS-uninfected ones. The results of fitness measurements indicated that under laboratory rearing conditions, transfection of SMLS could confer modest advantages to some fitness components of S. miscanthi, that is, total number of offspring, longevity, age of first reproduction and weight of adult. However, as SMLS is not strictly associated with S. miscanthi, further investigations are needed to uncover the mechanisms responsible for this inconceivable association.

Two chloroplast intergenic spacers (trnD-trnT and rps16-trnK) were used to study the phylogeographical structure of Helianthemumsongaricum in northwestern China, with 12 haplotypes detected. Phylogenetic analysis showed that H. songaricum comprised two lineages, one distributed in the Yili Valley and the other in the western Ordos Plateau. Nested clade phylogeographic analysis likewise indicated that haplotypes in the Yili Valley and those in the western Ordos Plateau formed sister monophyletic clades. This lineage split was also supported by AMOVA analysis and the Mantel test. AMOVA showed that 99.41% of variance in H. songaricum occurred between the two distribution regions, and correlation between genetic differentiation and geographical distances was significant (r2 = 0.877, P < 0.0001). All populations in the Yili Valley shared haplotype A with high frequency, and range expansion was detected by nested clade analysis and strongly supported by negative Fu’s FS-values, Tajima’s D-values, and mismatch distribution analysis. We speculate that aggravation of the dry and cold climate during the early Quaternary, combined with plant physiological features, were determining factors contributing to the lineage split, and climate oscillations most likely led to the Yili range expansion. The high drift load (FST = 0.9923, GST = 0.663) and inbreeding load (HS = 0.219) of H. songaricum indicate a significant extinction risk, and protective measures should be taken immediately.

Kengyilia is a perennial genus distributing in central and western Asia. Here, the levels of nucleotide diversity for COXII intron were obtained. The estimates of nucleotide diversity for different genome constitution ranged from θ = 0.00082 and π = 0.00082 for St genome species to π = 0.01227 and θ = 0.01229 for P genome species. Employing COXII intron sequences, the phylogenetic relationships within Kengyilia and between Kengyilia genus and its closely related genera were examined. The Maximum Parsimony analysis demonstrated that Kengyilia species were positioned into two clades corresponding to different maternal genomic donor. Kengyilia stenachyra , Kengyilia grandiglumis , Kengyilia hirsuta , Kengyilia melanthera , Kengyilia thoroldiana , Kengyilia alatavica and Kengyilia zhaosuensis were related to species of Agropyron , while Kengyilia kokonorica , Kengyilia rigidula , Kengyilia nana , Kengyilia mutica , Kengyilia longiglumis , Kengyilia laxiflora and Kengyilia gobicola were close to species of Roegneria and Pseudoroegneria . In addition, other three species of Kengyilia , such as Kengyilia batalinii , Kengyilia tahelacana and Kengyilia kaschgarica , were related to Douglasdeweya deweyi , Pseudoroegneria strigosa and Roegneria tibetica . This result indicated that there had been two phylogenetically divergent maternal donors within Kengyilia . Our new finding will help to understand the evolutionary history of the genus Kengyilia .

The level of genetic differentiation and genetic structure in a Chinese native chicken breed, Bian chicken, and two controlled chicken populations (Jinghai chicken and Youxi chicken in China) were analysed based on 29 microsatellite markers. A total of 166 distinct alleles were observed across the 3 breeds, and 32 of these alleles (19.3%) were unique to only I breed. Bian chicken carried the largest number of private alleles at 15 (46.9%), followed by the Jinghai chicken with 12 private alleles (37.5%). The average polymorphism information content (0.5168) and the average expected heterozygote frequency (0.5750) of the Bian chicken were the highest, and those of the Jinghai chicken were 0.4915 and 0.5505, respectively, which were the lowest. Among 29 microsatellite loci, there were 15 highly informative loci in Bian chicken, and the other 14 were reasonably informative loci. The highly informative loci in Jinghai chicken and Youxi chicken were 17 and 14 respectively. Significant deviations from the Hardy-Weinberg equilibrium were observed at several locus-breed combinations, showing a deficit of heterozygotes in many cases. As a whole, genetic differentiation among the breeds estimated by the fixation index (Fst) were at 6.7% (p

To investigate genetic diversities among the AA genome Oryza species in the Southeast and South Asia, a total of 428 accessions of the AA genome Oryza species were genotyped using 36 simple sequence repeats (SSR) markers distributed throughout the rice genome. All of the 36 SSR markers generated polymorphic bands, revealing 100% polymorphism. The number of alleles per locus ranged from 3 to 17 with the mean of 8.6. The Nei's genetic diversity index (He) ranged from 0.337 at RM455 to 0.865 at RM169 with an average value of 0.650. The genetic diversity of the AA genome Oryza species in the Southeast Asia was obviously higher than that in the South Asia. Among the detected Oryza species in the South and Southeast Asia, O. rufipogon showed the highest genetic diversity. Meanwhile, a higher genetic differentiation (Fst) was found among the detected Oryza species in the Southeast Asia than in the South Asia. The Fst value between O. nivara and O. sativa was the highest. The results from the number of specific alleles, specific loci, and allele frequency confirmed the greater genetic variation among the detected species. In addition, the specific allele in RM161 displayed higher frequency (0.193), suggesting its important function in identifying Oryza species of AA genome.

Y-chromosome short tandem repeats (STRs) are potentially useful for forensic,anthropological and evolutionary studies. In this study we chose the loci DYS 19,DYS 388,DYS 389 ,DYS 389 II,DYS 390,DYS 391,DYS 392,DYS 393,DYS 425 and DYS 426. Blood samples were taken from 46 unrelated male individuals from Fujian Han and 43 unrelated males from Sichuan Han in China. DNA was extracted by conventional chelex extraction procedure. PCR was carried out in two multiplex reactions. Fragment analysis was conducted on an ABI PRISMTM 310 Genetic Analyzer.Allele frequency distributions and discrimination indices were calculated,and the two populations were tested for genetic differences by means of analysis of molecular variance (AMOVA).Here we obtained 75 YSTR haplotypes and the haplotype diversity for the complete haplotype was 0.9884 in Fujian Han and 0.9967 in Sichuan Han. A larger genetic difference became apparent between the two populations that belong to the Sino-Tibetan speaking populations.

Tibetan sheep have lived on the Tibetan Plateau for thousands of years; however, the process and consequences of adaptation to this extreme environment have not been elucidated for important livestock such as sheep. Here, seven sheep breeds, representing both highland and lowland breeds from different areas of China, were genotyped for a genome-wide collection of single-nucleotide polymorphisms (SNPs). The FST and XP-EHH approaches were used to identify regions harbouring local positive selection between these highland and lowland breeds and 236 genes were identified. We detected selection events spanning genes involved in angiogenesis, energy production and erythropoiesis. In particular, several candidate genes were associated with high-altitude hypoxia, including EPAS1, CRYAA, LONP1, NF1, DPP4, SOD1, PPARG and SOCS2. EPAS1 plays a crucial role in hypoxia adaption; therefore, we investigated the exon sequences of EPAS1 and identified 12 mutations. Analysis of the relationship between blood-related phenotypes and EPAS1 genotypes in additional highland sheep revealed that a homozygous mutation at a relatively conserved site in the EPAS1 3′ untranslated region was associated with increased mean corpuscular haemoglobin concentration and mean corpuscular volume. Taken together, our results provide evidence of the genetic diversity of highland sheep and indicate potential high-altitude hypoxia adaptation mechanisms, including the role of EPAS1 in adaptation.

In this work, cluster analysis and principal component analysis (PCA) were used to study the genetic diversity and relationships among 49 grape germplasm accessions analyzed with 19 simple sequence repeat (SSR) primer pairs. In total, 139 polymorphic loci were detected among these accessions with an average of 7.32 polymorphic loci per SSR primer pair. The average values for the effective number of alleles, Nei’s gene diversity, and Shannon’s information index were 1.5605, 0.3352 and 0.5064, respectively. The cluster analysis showed that the 49 accessions could be divided into five groups and an outgroup. The results of the PCA were nearly consistent with those of unweighted pair-group method with arithmetic averages (UPGMA) clustering analysis. These results will be useful for the exploitation of grape germplasm in basic and applied research. Key words: Vitis vinifera L., simple sequence repeat (SSR), genetic diversity, principal component analysis. Abbreviation: PCA, principal component analysis; SSR, simple sequence repeat; UPGMA, unweighted pair-group method with arithmetic averages

Background Influenza H7N9 has become an endemic pathogen in China where circulating virus is found extensively in wild birds and domestic poultry. Two epidemic waves of Human H7N9 infections have taken place in Eastern and South Central China during the years of 2013 and 2014. In this study, we report on the first four human cases of influenza H7N9 in Shantou, Guangdong province, which occurred during the second H7N9 wave, and the subsequent analysis of the viral isolates. Methods Viral genomes were subjected to multisegment amplification and sequenced in an Illumina MiSeq. Later, phylogenetic analyses of influenza H7N9 viruses were performed to establish the evolutionary context of the disease in humans. Results The sequences of the isolates from Shantou have closer evolutionary proximity to the predominant Eastern H7N9 cluster (similar to A/Shanghai/1/2013 (H7N9)) than to the Southern H7N9 cluster (similar to A/Guangdong/1/2013 (H7N9)). Conclusions Two distinct phylogenetic groups of influenza H7N9 circulate currently in China and cause infections in humans as a consequence of cross-species spillover from the avian disease. The Eastern cluster, which includes the four isolates from Shantou, presents a wide geographic distribution and overlaps with the more restricted area of circulation of the Southern cluster. Continued monitoring of the avian disease is of critical importance to better understand and predict the epidemiological behaviour of the human cases. Electronic supplementary material The online version of this article (doi:10.1186/s12879-015-0829-8) contains supplementary material, which is available to authorized users.