A general pattern of the species abundance distribution
Since the 1970s, species abundance distributions (SADs) have been one of the most fundamental issues in ecology and have frequently been investigated and reviewed. However, there was surprisingly little consensus. This study focuses on three essential questions. (1) Is there a general pattern of SAD that no community can violate it? (2) If it exists, what does it look like? (3) Why is it like this? The frequency distributions of 19,833 SADs from eight datasets (including eleven taxonomic groups from terrestrial, aquatic, and marine ecosystems) suggest that a general pattern of SAD might exist. According to two hypotheses (the finiteness of the total energy and the causality from the entropy to the diversity), this study assumes that the general pattern of SAD is approximately consistent with Zipf’s law, which means that Zipf’s law might be more easily to observe when one investigates any SAD. In the future, this conjecture not only needs to be tested (or supported) by more and more datasets, but also depends on how well it is explained from different angles of theories.
Su (2018) A general pattern of the species abundance distribution. PeerJ 6:e5928 https://doi.org/10.7717/peerj.5928
Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
Background Marfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genetic variants in determining MFS clinical phenotypes. Methods We sequenced the whole exome of 19 individuals derived from three Han Chinese families. The sequencing data were analyzed by a standard pipeline. Variants were further filtered against the public database and an in-house database. Then, we performed pedigree analysis under different inheritance patterns according to American College of Medical Genetics guidelines. Results were confirmed by Sanger sequencing. Results Two novel loss-of-function indels (c.5027_5028insTGTCCTCC, p.D1677Vfs*8; c.5856delG, p.S1953Lfs*27) and one nonsense variant (c.8034C>A, p.Y2678*) of FBN1 were identified in Family 1, Family 2 and Family 3, respectively. All affected members carried pathogenic mutations, whereas other unaffected family members or control individuals did not. These different kinds of loss of function (LOF) variants of FBN1 were located in the cbEGF region and a conserved domain across species and were not reported previously. Conclusions Our study extended and strengthened the vital role of FBN1 LOF mutations in the pathogenesis of MFS with an autosomal dominant inheritance pattern. We confirm that genetic testing by next-generation sequencing of blood DNA can be fundamental in helping clinicians conduct mutation-based pre- and postnatal screening, genetic diagnosis and clinical management for MFS.
Pu et al. (2018) Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome. PeerJ 6:e5927 https://doi.org/10.7717/peerj.5927
MTBseq: a comprehensive pipeline for whole genome sequence analysis of Mycobacterium tuberculosis complex isolates
Analyzing whole-genome sequencing data of Mycobacterium tuberculosis complex (MTBC) isolates in a standardized workflow enables both comprehensive antibiotic resistance profiling and outbreak surveillance with highest resolution up to the identification of recent transmission chains. Here, we present MTBseq, a bioinformatics pipeline for next-generation genome sequence data analysis of MTBC isolates. Employing a reference mapping based workflow, MTBseq reports detected variant positions annotated with known association to antibiotic resistance and performs a lineage classification based on phylogenetic single nucleotide polymorphisms (SNPs). When comparing multiple datasets, MTBseq provides a joint list of variants and a FASTA alignment of SNP positions for use in phylogenomic analysis, and identifies groups of related isolates. The pipeline is customizable, expandable and can be used on a desktop computer or laptop without any internet connection, ensuring mobile usage and data security. MTBseq and accompanying documentation is available from https://github.com/ngs-fzb/MTBseq_source.
Kohl et al. (2018) MTBseq: a comprehensive pipeline for whole genome sequence analysis of Mycobacterium tuberculosis complex isolates. PeerJ 6:e5895 https://doi.org/10.7717/peerj.5895
Optimizing the trainable B-COSFIRE filter for retinal blood vessel segmentation
Segmentation of the retinal blood vessels using filtering techniques is a widely used step in the development of an automated system for diagnostic retinal image analysis. This paper optimized the blood vessel segmentation, by extending the trainable B-COSFIRE filter via identification of more optimal parameters. The filter parameters are introduced using an optimization procedure to three public datasets (STARE, DRIVE, and CHASE-DB1). The suggested approach considers analyzing thresholding parameters selection followed by application of background artifacts removal techniques. The approach results are better than the other state of the art methods used for vessel segmentation. ANOVA analysis technique is also used to identify the most significant parameters that are impacting the performance results (p-value ¡ 0.05). The proposed enhancement has improved the vessel segmentation accuracy in DRIVE, STARE and CHASE-DB1 to 95.47, 95.30 and 95.30, respectively.
Badawi et al. (2018) Optimizing the trainable B-COSFIRE filter for retinal blood vessel segmentation. PeerJ 6:e5855 https://doi.org/10.7717/peerj.5855
The relationship between social rank and spatial learning in pheasants, Phasianus colchicus: cause or consequence?
Individual differences in performances on cognitive tasks have been found to differ according to social rank across multiple species. However, it is not clear whether an individual’s cognitive performance is flexible and the result of their current social rank, modulated by social interactions (social state dependent hypothesis), or if it is determined prior to the formation of the social hierarchy and indeed influences an individual’s rank (prior attributes hypothesis). We separated these two hypotheses by measuring learning performance of male pheasants, Phasianus colchicus, on a spatial discrimination task as chicks and again as adults. We inferred adult male social rank from observing agonistic interactions while housed in captive multi-male multi-female groups. Learning performance of adult males was assayed after social rank had been standardised; by housing single males with two or four females. We predicted that if cognitive abilities determine social rank formation we would observe: consistency between chick and adult performances on the cognitive task and chick performance would predict adult social rank. We found that learning performances were consistent from chicks to adults for task accuracy, but not for speed of learning and chick learning performances were not related to adult social rank. Therefore, we could not support the prior attributes hypothesis of cognitive abilities aiding social rank formation. Instead, we found that individual differences in learning performances of adults were predicted by the number of females a male was housed with; males housed with four females had higher levels of learning performance than males housed with two females; and their most recent recording of captive social rank, even though learning performance was assayed while males were in a standardized, non-competitive environment. This does not support the hypothesis that direct social pressures are causing the inter-individual variation in learning performances that we observe. Instead, our results suggest that there may be carry-over effects of aggressive social interactions on learning performance. Consequently, whether early life spatial learning performances influence social rank is unclear but these performances are modulated by the current social environment and a male’s most recent social rank.
Langley et al. (2018) The relationship between social rank and spatial learning in pheasants, Phasianus colchicus: cause or consequence?. PeerJ 6:e5738 https://doi.org/10.7717/peerj.5738
Toxicity of Melaleuca alternifolia essential oil to the mitochondrion and NAD+/NADH dehydrogenase in Tribolium confusum
Background In our previous study, Melaleuca alternifolia essential oil (EO) was considered to have an insecticidal effect by acting on the mitochondrial respiratory chain in insects. However, the mode of action is not fully understood. Methods In this study, we investigated the insecticidal efficacy of the M. alternifolia EO against another major stored-product pest, Tribolium confusum Jacquelin du Val. Rarefaction and vacuolization of the mitochondrial matrix were evident in oil-fumigated T. confusum adults. Results Alterations to the mitochondria confirmed the insecticidal effect of the M. alternifolia EO. Furthermore, comparative transcriptome analysis of T. confusum using RNA-seq indicated that most of the differentially expressed genes were involved in insecticide detoxification and mitochondrial function. The biochemical analysis showed that the intracellular NAD+/NADH ratio is involved in the differential effect of the M. alternifolia EO. Discussion These results led us to conclude that NAD+/NADH dehydrogenase may be the prime target site for the M. alternifolia EO in insects, leading to blocking of the mitochondrial respiratory chain.
Liao et al. (2018) Toxicity of Melaleuca alternifolia essential oil to the mitochondrion and NAD+/NADH dehydrogenase in Tribolium confusum. PeerJ 6:e5693 https://doi.org/10.7717/peerj.5693
CMTCN: a web tool for investigating cancer-specific microRNA and transcription factor co-regulatory networks
Transcription factors (TFs) and microRNAs (miRNAs) are well-characterized trans-acting essential players in gene expression regulation. Growing evidence indicates that TFs and miRNAs can work cooperatively, and their dysregulation has been associated with many diseases including cancer. A unified picture of regulatory interactions of these regulators and their joint target genes would shed light on cancer studies. Although online resources developed to support probing of TF-gene and miRNA-gene interactions are available, online applications for miRNA-TF co-regulatory analysis, especially with a focus on cancers, are lacking. In light of this, we developed a web tool, namely CMTCN (freely available at http://www.cbportal.org/CMTCN), which constructs miRNA-TF co-regulatory networks and conducts comprehensive analyses within the context of particular cancer types. With its user-friendly provision of topological and functional analyses, CMTCN promises to be a reliable and indispensable web tool for biomedical studies.
Li et al. (2018) CMTCN: a web tool for investigating cancer-specific microRNA and transcription factor co-regulatory networks. PeerJ 6:e5951 https://doi.org/10.7717/peerj.5951
A divergence between underlying and final causes of death in selected conditions: an analysis of death registries in Peru
Background The underlying cause of death is used to study country and global mortality trends and profiles. The final cause of death could also inform the ultimately cause of death in individuals with underlying conditions. Whether there is a pattern between the underlying and final cause of death has not been explored using national death registries. We studied what final causes of death were most common among selected underlying causes using national death registries in Peru, 2015. Methods Underlying and final causes of death were classified according to their ICD-10 codes. Underlying causes included chronic kidney disease (CKD), chronic obstructive pulmonary disease (COPD), hypertension (HTN), diabetes, and selected cancers (cervix, breast, stomach, prostate, and lung). Final causes were categorized as: communicable, cardiovascular, and cancers. Descriptive statistics were used. Results A total of 77,065 death registries were analyzed; cases had a mean age of 69.4 (SD: 19.3) years at death and were mostly men (53.9%). When the underlying cause was HTN, the most frequent final cause was cardiovascular diseases (82.3%). For all the other underlying causes, the most frequent final cause was communicable diseases: COPD (86.4%), CKD (79.3%), cancer (76.5%), and diabetes (68.3%). Conclusions In four selected underlying causes of death there was a divergence with respect to the final cause, suggesting there was a shift from non-communicable to communicable causes. Although efforts should be deployed to prevent underlying non-communicable diseases, potential communicable complications should not be neglected.
Carrillo-Larco et al. (2018) A divergence between underlying and final causes of death in selected conditions: an analysis of death registries in Peru. PeerJ 6:e5948 https://doi.org/10.7717/peerj.5948
Evaluation of 17 microsatellite markers for parentage testing and individual identification of domestic yak (Bos grunniens)
Background Yak (Bos grunniens) is the most important domestic animal for people living at high altitudes. Yak ordinarily feed by grazing, and this behavior impacts the accuracy of the pedigree record because it is difficult to control mating in grazing yak. This study aimed to evaluate the pedigree system and individual identification in polled yak. Methods A total of 71 microsatellite loci were selected from the literature, mostly from the studies on cattle. A total of 35 microsatellite loci generated excellent PCR results and were evaluated for the parentage testing and individual identification of 236 unrelated polled yaks. A total of 17 of these 35 microsatellite loci had polymorphic information content (PIC) values greater than 0.5, and these loci were in Hardy–Weinberg equilibrium without linkage disequilibrium. Results Using multiplex PCR, capillary electrophoresis, and genotyping, very high exclusion probabilities were obtained for the combined core set of 17 loci. The exclusion probability (PE) for one candidate parent when the genotype of the other parent is not known was 0.99718116. PE for one candidate parent when the genotype of the other parent is known was 0.99997381. PE for a known candidate parent pair was 0.99999998. The combined PEI (PE for identity of two unrelated individuals) and PESI (PE for identity of two siblings) were >0.99999999 and 0.99999899, respectively. These findings indicated that the combination of 17 microsatellite markers could be useful for efficient and reliable parentage testing and individual identification in polled yak. Discussion Many microsatellite loci have been investigated for cattle paternity testing. Nevertheless, these loci cannot be directly applied to yak identification because the two bovid species have different genomic sequences and organization. A total of 17 loci were selected from 71 microsatellite loci based on efficient amplification, unambiguous genotyping, and high PIC values for polled yaks, and were suitable for parentage analysis in polled yak populations.
Pei et al. (2018) Evaluation of 17 microsatellite markers for parentage testing and individual identification of domestic yak (Bos grunniens). PeerJ 6:e5946 https://doi.org/10.7717/peerj.5946
Late Cretaceous sauropod tooth morphotypes may provide supporting evidence for faunal connections between North Africa and Southern Europe
The Cretaceous Kem Kem beds of Morocco and equivalent beds in Algeria have produced a rich fossil assemblage, yielding, amongst others, isolated sauropod teeth, which can be used in species diversity studies. These Albian-Cenomanian (∼113–93.9 Ma) strata rarely yield sauropod body fossils, therefore, isolated teeth can help to elucidate the faunal assemblages from North Africa, and their relations with those of contemporaneous beds and geographically close assemblages. Eighteen isolated sauropod teeth from three localities (Erfoud and Taouz, Morocco, and Algeria) are studied here, to assess whether the teeth can be ascribed to a specific clade, and whether different tooth morphotypes can be found in the samples. Two general morphotypes are found, based on enamel wrinkling and general tooth morphology. Morphotype I, with mainly rugose enamel wrinkling, pronounced carinae, lemon-shaped to (sub)cylindrical cross-section and mesiodistal tapering towards an apical tip, shows affinities to titanosauriforms and titanosaurs. Morphotype II, characterized by more smooth enamel, cylindrical cross-section, rectangular teeth with no apical tapering and both labial and lingual wear facets, shows similarities to rebbachisaurids. Moreover, similarities are found between these northwest African tooth morphotypes, and tooth morphotypes from titanosaurs and rebbachisaurids from both contemporaneous finds from north and central Africa, as well as from the latest Cretaceous (Campanian–Maastrichtian, 83.6 Ma–66.0 Ma) of the Ibero-Armorican Island. These results support previous hypotheses from earlier studies on faunal exchange and continental connections between North Africa and Southern Europe in the Cretaceous.
Holwerda et al. (2018) Late Cretaceous sauropod tooth morphotypes may provide supporting evidence for faunal connections between North Africa and Southern Europe. PeerJ 6:e5925 https://doi.org/10.7717/peerj.5925