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By the mid-nineteenth century many scientists considered the notion of evolution seriously but the mechanism for this was lacking. In 1859 Charles Darwin introduced just such a mechanism – natural selection which is based on heritable variation and differential reproductive success. Hence individuals with characteristics which allow them to survive and outbreed others pass on such characteristics to future generations. The work of Williams, Hamilton and Trivers led evolutionists to reconsider the level at which selection operates. In The Selfish GeneRichard Dawkins made explicit the notion of the gene as the unit of selection and introduced the concepts of the replicator and the vehicle. The replicator is the gene and the vehicle the organism. Debates concerning individual versus gene selection continue. Generally, selection pressures which act on individuals will also act on genes directly. In the case of altruistic behaviour, however, this may not always be the case.
As astroviral infection rapidly increased in the summer of 2022 in Korea, this study aimed to determine the cause and genotype of astroviruses during this period. From January to December 2022, we tested 43,312 stool samples from patients with acute gastroenteritis utilizing multiplex PCR to detect HAstV. For the HAstV-positive samples, we determined the genotypes of the HAstVs by PCR and sequencing. The monthly positive rate from 2015 to 2022 showed a notable and abrupt increase of HAstV infection between June and August 2022, peaking at 9.8% in July 2022. The annual positivity rate of HAstV remained at 2–3% between 2015 and 2019, and then decreased to 0.5% in 2020, followed by an increase to 1.5% in 2021 and 3.6% in 2022.The genotyped astroviruses in 2022 were all identified as HAstV-1 type, and the nucleotide identity% among them was >99%. The GenBank accession number for the strain genetically closest to the strains identified in our study was ON571597.1, which was HAstV-1 isolated from Pingtan in 2019. Our results provide recent epidemiological data on HAstVs in Korea. The decline and surge in astrovirus positivity in recent years may be related to the COVID-19 pandemic.
Host–bacterial communities (microbiomes) are influenced by a wide range of factors including host genotype and parasite exposure. However, few studies disentangle temporal and host-genotype-specific variation in microbiome response to infection across several host tissues. We experimentally exposed the freshwater crustacean Daphnia magna to its fungal parasite Metschnikowia bicuspidata and characterized changes in host–bacterial communities associated with the parasite's development within the host. We used 16S rRNA gene sequencing to assess bacterial communities of the host (a) 24 h (‘initial parasite exposure’) and (b) 10 days (‘successful infection’) after exposure to a standard dose of M. bicuspidata spores, in host guts, body tissue (excluding guts) and whole individuals. We also investigated whether bacterial community responses to parasite exposure varied by host genotype.
Parasite exposure did not immediately alter host gut bacterial communities, but drove host-genotype-specific changes in the bacterial community composition of whole individuals. We validated that these changes were not driven by shifts in bacterial communities of the culturing medium, due to the addition of the parasite spore solution. Successful infection (i.e. the proliferation of M. bicuspidata spores in the host body) reduced alpha diversity and shifted abundance of dominant bacterial orders in the gut. Moreover, it induced a host-genotype-specific changes in body bacterial community composition. Overall, bacterial community responses to parasite exposure and subsequent infection are complex: they occur in a host-genotype-dependent manner, differentially at distinct timepoints after parasite exposure, and in specific host tissue.
This study investigates the molecular intricacies of the transmembrane protein TSP11 gene in Echinococcus strains isolated from livestock and patients in Yunnan Province afflicted with Echinococcus granulosus (E. granulosus) between 2016 and 2020. Gene typing analysis of the ND1 gene revealed the presence of the G1 type, G5 type and untyped strains, constituting 52.4, 38.1 and 9.5%, respectively. The analysis of 42 DNA sequences has revealed 24 novel single nucleotide polymorphic sites, delineating 11 haplotypes, all of which were of the mutant type. Importantly, there were no variations observed in mutation sites or haplotypes in any of the hosts. The total length of the TSP11 gene's 4 exons is 762 bp, encoding 254 amino acids. Our analysis posits the existence of 6 potential B-cell antigenic epitopes within TSP11, specifically at positions 49-KSN-51, 139-GKRG-142, 162-DNG-164, 169-NGS-171, 185-DS-186 and 231-PPRFTN-236. Notably, these epitopes exhibit consistent presence among various intermediate hosts and haplotypes. However, further validation is imperative to ascertain their viability as diagnostic antigens for E. granulosus in the Yunnan Province.
This study examines associations between early childhood attachment security and adolescent personality functioning in a high-risk sample within a developmental psychopathology framework. Data from 2,268 children (1165 male; 1103 female) and caregivers participating in Future of Families and Child Well-Being Study (FFCWS) were used to examine (1) effects of genetic polymorphisms of the serotonin transporter (5-HTTLPR) and dopamine D4 receptor (DRD4) genes and adverse childhood experiences (ACEs) on attachment security and emotional and behavioral dysregulation in early childhood and (2) longitudinal associations and transactional relationships among attachment security, dysregulation, negative parenting attitudes and behaviors, social competence, and adolescent personality functioning. Results revealed that ACEs predicted attachment security over and above sex or the genetic risk, and gene × environment interactions did not increment prediction. Results of cascade models showed that greater early childhood attachment security predicted higher adolescent level of personality functioning via pathways through intermediary variables. Limitations and future research directions are discussed.
Tea (Camellia sinensis (L.) Kuntze) leaves are an important beverage crop due to their high caffeine content. Although the north of Iran is the main region for high-quality tea plants, there is no document on variations of phenotypic traits of different accessions. The present study was to assess the biodiversity of 12 tea accessions originating from four tea main sites in Iran (Langroud, Siahkal, Kobijar and Bazkiaguorab) using multivariate analysis. Two-year-old tea plants were cultivated in a completely randomized design with five replicates in a greenhouse. One year after plant establishment, phenotypic characteristics were studied. The tea accessions showed different responses in chlorophyll and total ash contents. The highest and lowest amount of caffeine in tea accessions was found in Kobijar A7 and Langroud A2, respectively. Epicatechin was obtained in a 6.48–15.44 mg g−1 range, and the maximum variability was found in epigallocatechin gallate (EGCG), differing from 0.94 to 21.03 mg g−1. Langroud A2 and Bazkiaguorab A11 contained the maximum EGCG and the total polyphenolic content in Bazkiaguorab was greater than other accessions. Heat map analysis showed the maximum variability of EGCG, catechin, and GA among the accessions. The main essential oil compounds were 2-pentyl furan followed by hexanal, gamma-terpinene, octane, ortho-cymene, terpinen-4-ol, alpha-copaene and E-caryophyllene. In conclusion, changes in phytochemical traits caused by genetics and origin can significantly alter the quality of tea compounds. The results of this study can be utilized as raw materials in future breeding projects to improve new cultivars with superior characteristics.
Evolutionary studies on Dengue virus (DENV) in endemic regions are necessary since naturally occurring mutations may lead to genotypic variations or shifts in serotypes, which may lead to future outbreaks. Our study comprehends the evolutionary dynamics of DENV, using phylogenetic, molecular clock, skyline plots, network, selection pressure, and entropy analyses based on partial CprM gene sequences. We have collected 250 samples, 161 in 2017 and 89 in 2018. Details for the 2017 samples were published in our previous article and that of 2018 are presented in this study. Further evolutionary analysis was carried out using 800 sequences, which incorporate the study and global sequences from GenBank: DENV-1 (n = 240), DENV-3 (n = 374), and DENV-4 (n = 186), identified during 1944–2020, 1956–2020, and 1956–2021, respectively. Genotypes V, III, and I were identified as the predominant genotypes of the DENV-1, DENV-3, and DENV-4 serotypes, respectively. The rate of nucleotide substitution was found highest in DENV-3 (7.90 × 10−4 s/s/y), followed by DENV-4 (6.23 × 10−4 s/s/y) and DENV-1 (5.99 × 10−4 s/s/y). The Bayesian skyline plots of the Indian strains revealed dissimilar patterns amongst the population size of the three serotypes. Network analyses showed the presence of different clusters within the prevalent genotypes. The data presented in this study will assist in supplementing the measures for vaccine development against DENV.
The study of Toxoplasma gondii genotypes is beneficial for detecting strains linked to increased disease severity and uncovering the processes involved in the transmission and distribution of this zoonotic parasite. A systematic review of literature was conducted to investigate the present status of T. gondii genetic diversity in African countries and among host species on the continent. Data from the results in the included studies were sorted, reviewed and descriptively analysed using tables, graphs and maps. Results indicate that there is a relative amount of genetic diversity with a clear difference in the population structure between geographical regions and the propensity for unique and regional genotypes to be predominant in tropical rainforest biomes, near the equator. From a clinical perspective, connections between specific T. gondii genotypes and disease manifestations were found. Theories are outlined on the dissemination of African T. gondii genotypes to other continents. The overrepresentation of samples from one geographical area and dissimilar genotyping methodologies creates challenges when concluding on the genetic diversity of T. gondii in Africa. The need for uniform genotyping methods with a continent-wide sampling of an extensive host range involving humans, domestic animals and wildlife is emphasized.
If available for use on snap bean, pyroxasulfone would provide valuable preemergence control of troublesome weed species that currently contaminate the crop postharvest. The extent to which snap bean tolerates pyroxasulfone is poorly documented. The objective of this research was to quantify the extent to which pyroxasulfone tolerance exists in a large collection of snap bean cultivars. A snap bean diversity panel of 277 entries was screened for tolerance to sulfentrazone at a rate of 420 g ai ha−1 in a field trial in 2019 and 2020 near Urbana, IL. Snap bean cultivars exhibited variation in tolerance to pyroxasulfone. While a handful of cultivars were tolerant across variable environments, most cultivars were sensitive in the year that had 30% more water supply (rainfall plus sprinkler irrigation) within 3 wk of planting. Low estimates of broad-sense heritability reflect a large influence of the environment on seedling emergence and growth. With a few exceptions, currently, the margin of crop safety across diverse germplasm is insufficient for registration of pyroxasulfone use on snap bean crops.
Forensic samples are among the most complex encountered. Blood is best known, but other biological matrices also carry genetic information. Cheek swabs (buccal swabs) collect cells from the inside of the mouth and have the advantage of being a non-invasive sample collection compared to a blood draw. Hair, depending on the presence of the root, is amenable to DNA typing. Semen, vaginal fluids, and vaginal swabs are collected in sexual assault cases. Any surface on which biological fluids (blood, oral fluid, vaginal fluid, etc.) are deposited becomes a potential DNA source.
The initial deposition (called the primary transfer) occurs from a person to a surface. It is the deposition of blood, saliva, semen, or other biological substance directly from the body onto a surface. This process could be a victim’s blood dripping onto an assailant’s clothing, saliva on a cigarette, or seminal fluid on a bedsheet.
In this unashamed polemic I argue that most extant plant species currently represented by a Linnean binomial exist only at the most basic level of a primary hypothesis that has not yet been subjected to the crucial test of circumscription. Rigorous circumscription requires sampling of numerous populations across the full range of a putative species and its supposed close relatives for several properties, including analytical morphology and genetics, preferably supported by gene exchange experiments and autecological observations. In the absence of genuine, demonstrable discontinuities in at least one biologically meaningful property, perceived species boundaries remain entirely arbitrary, thereby hindering rather than assisting every kind of biological investigation. The term 'cryptic species' has many implied definitions, but in my opinion it simply boils down to the many situations where limited morphological and molecular differentiation leave the analyst unsure whether credible species boundaries exist among the representative individuals analysed. The lack of obvious discontinuities typically reflects ongoing gene-flow and/or low levels of extinction of intermediate lineages. At present, the status of a putative species is rarely subjected to critical appraisal through the lens of any specified species concept or evolutionary mechanism, despite the widely accepted primacy of species in systematic biology.
Human beings are one of the innumerable products of the process of evolution by natural selection. As such, understanding our psychological makeup requires an appreciation of the mechanism of natural selection itself. When a population of reproducing entities has (1) variation in traits, (2) inheritance of variation, and (3) nonrandom differential reproduction, entities with traits that are good at making themselves more numerous will, by definition, tend to be better represented in future generations. Organisms that are best able to interact with their environment in a way that promotes their own reproduction are favored automatically. Under consistent environmental conditions, small changes in inherited traits can add up to complex adaptations by adding incremental improvements to the organisms’ fit with the environment. The relationship between variation and inheritance is complex in organisms because variation is manifest in the phenotype, but inheritance occurs between genotypes. The relationship between these two aspects of organisms is complex because genes must act through interaction with the environment. Further complications arise due to the blindness of natural selection to changes in future environments and available variation. Despite these intricacies, natural selection has crafted vastly complex and diverse organisms over the course of billions of years, with no foresight or thought.
The objective was to establish a multivariate model using two complementary multivariate statistical techniques, factor analysis and multiple stepwise regression to predict carcase characteristics, carcase cuts, internal fat, viscera and loin eye area from body measurements of goats Boer mestizos. Thirty-two goats were used, with initial average weights of 3.3 ± 0.61 kg and final average weights of 16 ± 2.5 kg. Before slaughter and after 16 h of fasting, body weight was measured along with the biometric measurements (BMs) of each animal: body length, withers height, croup height, chest width, croup width, croup perimeter, thoracic perimeter, leg length and thigh circumference. The half carcases were sectioned in six anatomical regions that made up the commercial cuts: neck, palette, rib, handsaw, loin and ham. BMs showed a high correlation with a few exceptions; most of the correlations are above 50%. What also happens with the Carcass weight and cuts were also correlated above 50% with BMs. The data presented an index for the Kaiser–Meyer–Olkin test of 0.80, demonstrating the adequacy of the factor analysis. Through factor analysis, it was possible to observe that the first two factors extracted accumulated 75.47% of the total variance of the studied characteristics. Moderate to high and positive correlations of morphological characteristics with body weight, carcase characteristics and primary carcase cuts suggested the adequacy of morphological characteristics as criteria for early selection of crossbred Boer goats for their body weight and carcase characteristics without slaughter.
Tamoxifen is commonly prescribed for preventing recurrence in patients with breast cancer. However, the responses of the patients on tamoxifen treatment are variable. Cytochrome P450 genetic variants have been reported to have a significant impact on the clinical outcomes of tamoxifen treatment but no tangible conclusion can be made up till now. The present review attempts to provide a comprehensive review on the associative relationship between genetic polymorphisms in cytochrome P450 enzymes and survival in breast cancer patients on adjuvant tamoxifen therapy. The literature search was conducted using five databases, resulting in the inclusion of 58 studies in the review. An appraisal of the reporting quality of the included studies was conducted using the assessment tool from the Effective Public Health Practice Project (EPHPP). Meta-analyses were performed on CYP2D6 studies using Review Manager 5.3 software. For other studies, descriptive analyses were performed. The results of meta-analyses demonstrated that shorter overall survival, disease-free survival and relapse-free survival were found in the patients with decreased metabolisers when compared to normal metabolisers. The findings also showed that varying and conflicting results were reported by the included studies. The possible explanations for the variable results are discussed in this review.
This study aimed to investigate differences in the antimicrobial susceptibility of members of the Mycobacterium abscessus complex (MABC): subsp. massiliense and subsp. abscessus, and to identify associations between strain genotypes and antimicrobial resistance phenotypes. A total of 383 clinical MABC isolates (subsp. abscessus: n = 218, 56.9%; subsp. massiliense: n = 163, 42.6%; subsp. bolletii: n = 2, 0.5%) were characterised using multilocus variable number tandem repeat (VNTR) typing and drug susceptibility testing. Most isolates exhibited susceptibility to amikacin, clarithromycin and azithromycin but resistance to cefoxitin and minocycline was statistically more associated with isolates unclustered by VNTR type. The Simpson's diversity indexes of VNTR typing for M. abscessus and M. massiliense isolates were 0.999 and 0.997, respectively. Genotyping of M. abscessus and M. massiliense isolates by VNTR may provide valuable information for predicting resistance phenotype.
Pharmacogenetics (PGx) studies genetic variance and related differences in drug outcomes. PGx guidelines for psychotropic drugs are available (PGx drugs). By executing PGx testing in a prospective or pre-emptive setting, dose adjustments or even change of treatment type can be applied prior to start of therapy to patients who carry a specific geno- or phenotype (i.e. actionable geno- or phenotypes). By doing so, increased efficacy of therapy or reduced risk of adverse events of treatment can be accomplished. In Denmark, broad implementation of PGx is currently still low.
Objectives
The aim of this study is to classify the PGx profiles of Danish individuals with and without severe mental disorders (SMD), to be used in follow-up studies investigating PGx and drug outcomes.
Methods
This study made use of imputed genotyping data of the Danish iPSYCH sample, which includes 77,639 young individuals born between 1981-2005, with or without a diagnosis of one or more of five selected SMD (i.e. depression, attention-deficit/hyperactivity disorder, autism, bipolar disorder and schizophrenia). We investigated a panel of 48 genetic variants with known PGx applications (part of the U-PGx consortium, a Horizon2020 funded project on clinical relevant PGx in the EU).
Results
Imputed data contains over 11 million SNPs of 77,639 individuals.
Conclusions
We expect results in the end of 2020.
Disclosure
We thank the iPSYCH consortium, in specific the iPSYCH PI’s (Merete Nordentoft, Anders Børglum, Preben B. Mortensen, Ole Mors, Thomas Werge and David M. Hougaard). The iPSYCH project is funded by the Lundbeck Foundation Denmark and the universities and un
The present study attempted to analyse human papillomavirus (HPV) genotype distribution and its association with cervical cytology results in women in western China. The present retrospective analysis was performed in 1089 female outpatients with a positive HPV test result who had undergone a cervical cytology test at the gynaecological clinic, West China Second Hospital, Sichuan University, China, between January 2014 and December 2016. Of the 1089 patients with HPV infection, multiple HPV genotypes were detected in 220 patients (20.20%). Among the 1368 HPV genotypes detected, 1145 (83.70%) were high-risk subtypes. The most common genotypes were HPV-52 (18.64%), HPV-16 (16.59%), HPV-58 (13.23%), HPV-18 (6.80%), HPV-56 (5.56%) and HPV-59 (5.56%). Cervical cytology revealed abnormal cells in 430 (39.49%) patients. The most common diagnoses were atypical squamous cells of undetermined significance (ASC-US; 236 cases, 54.88%), low-grade squamous intraepithelial lesions (LSIL; 151 cases, 35.12%), high-grade squamous intraepithelial lesions (HSIL; 63 cases, 14.65%) and atypical glandular cells (AGC; 21 cases, 4.88%). HPV-66 was significantly associated (P = 0.037) with ASC; HPV-52 and HPV-56 were significantly associated with LSIL (P = 0.009 and 0.026, respectively); HPV-16 (P < 0.001), HPV-33 (P = 0.014) and HPV-58 (P = 0.003) were significantly associated with HSIL; and HPV-16 (P = 0.005) was significantly associated with AGC. HPV-16, HPV-52 and HPV-58 are associated with different diagnoses in patients with positive cervical cytological findings.
Optimal maternal long-chain PUFA (LCPUFA) status is essential for the developing fetus. The fatty acid desaturase (FADS) genes are involved in the endogenous synthesis of LCPUFA. The minor allele of various FADS SNP have been associated with increased maternal concentrations of the precursors linoleic acid (LA) and α-linolenic acid (ALA), and lower concentrations of arachidonic acid (AA) and DHA. There is limited research on the influence of FADS genotype on cord PUFA status. The current study investigated the influence of maternal and child genetic variation in FADS genotype on cord blood PUFA status in a high fish-eating cohort. Cord blood samples (n 1088) collected from the Seychelles Child Development Study (SCDS) Nutrition Cohort 2 (NC2) were analysed for total serum PUFA. Of those with cord PUFA data available, maternal (n 1062) and child (n 916), FADS1 (rs174537 and rs174561), FADS2 (rs174575), and FADS1-FADS2 (rs3834458) were determined. Regression analysis determined that maternal minor allele homozygosity was associated with lower cord blood concentrations of DHA and the sum of EPA + DHA. Lower cord blood AA concentrations were observed in children who were minor allele homozygous for rs3834458 (β = 0·075; P = 0·037). Children who were minor allele carriers for rs174537, rs174561, rs174575 and rs3834458 had a lower cord blood AA:LA ratio (P < 0·05 for all). Both maternal and child FADS genotype were associated with cord LCPUFA concentrations, and therefore, the influence of FADS genotype was observed despite the high intake of preformed dietary LCPUFA from fish in this population.
Jackfruit (Artocarpus heterophyllus Lam.) is a nutritious crop from the Moraceae family. The current study was undertaken to evaluate the phenotypic diversity of fruit characteristics using a set of 27 standardized fruit descriptors to describe 28 jackfruit genotypes. These data were used to identify the superior jackfruit genotype that could be used for commercial cultivation. The data revealed a wide range of differences among the genotypes for all the traits studied. Cluster analysis classified the genotypes into four major groups that confirmed the wide diversity among them. Principal component analysis (PCA) also revealed that 80.22% of the variability among the jackfruit genotypes was explained by the first five principal components (PCs). Based on the overall results, the Indian Council of Agricultural Research, Research Complex for Eastern Region (ICAR-RCER) JS 6/3 and 10/3 genotypes were found to be the most promising for table purposes (medium fruit size, pulp percentage >50 and total soluble solid (TSS) >20°Brix), whereas the ICAR-RCER JS 7/7 genotype with large fruit size, pulp percentage >50 and TSS >20°Brix was found to be suitable for processing. The coefficient of variation was the least for traits such as TSS (12.56%) and average seed length (13.56%). Hence, priority may also be given to the TSS and seed size when exploring promising genotypes and operating a selection procedure for crop improvement in jackfruit. The information generated under the study forms a potential baseline for fruit breeders to use in selecting genotypes with superior fruit qualities for jackfruit crop improvement programmes in the future.
Toxoplasma gondii infections are common in humans and animals worldwide. Wild and domestic avian species are important in the epidemiology of T. gondii infections because felids prey on them and excrete millions of oocysts in the environment, disseminating the infection. Herbivorous birds are also excellent sentinels of environmental contamination with T. gondii oocysts because they feed on the ground. Toxoplasma gondii infections in birds of prey reflect infections in intermediate hosts. Humans can become infected by consuming undercooked avian tissues. Here, the authors reviewed prevalence, persistence of infection, clinical disease, epidemiology and genetic diversity of T. gondii strains isolated from turkeys, geese, ducks, ratites and avian species (excluding chickens) worldwide 2009–2020. Genetic diversity of 102 T. gondii DNA samples isolated worldwide is discussed. The role of migratory birds in dissemination of T. gondii infection is discussed.