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Showing papers in "Journal of Genetics in 2017"


Journal ArticleDOI
TL;DR: This is the first manuscript that describes use of distilled water as the only eliminator of RBCs among all other known DNA extraction techniques.
Abstract: There is no 'one' procedure for extracting DNA from the whole blood of both mammals and birds, since each species has a unique property that require different methods to release its own DNA. Therefore, to obtain genomic DNA, a universal, rapid, and noncostly method was developed. A very simple biological basis is followed in this procedure, in which, when the blood is placed in water, it rapidly enters the RBCs by osmosis and causes cells to burst by hemolysis. The validity of extracting genomic DNA was confirmed by several molecular biological experiments. It was found that this method provides an efficient and versatile alternative for extracting bulk amounts of highly-qualified DNA from the blood of a wide range of species. This is the first manuscript that describes use of distilled water as the only eliminator of RBCs among all other known DNA extraction techniques.

47 citations


Journal ArticleDOI
TL;DR: It is suggested to fine map the novel QTLs so that the level of salinity tolerance could be further enhanced by pyramiding of the differentQTLs in one genetic background through marker-assisted selection.
Abstract: Salinity is the second most important abiotic stress after drought that hampers rice production, especially in south and Southeast Asia. Breeding approach supplemented with molecularmarkers-assisted selection is the most promising approach in terms of efficiency to increase the productivity under salt-affected soils. Thirty-day-old rice seedlings of 300 F5:6 recombinant-inbred lines derived from a cross between the salt sensitive, IR29 (indica), and a salt tolerant, Hasawi (aus), were used to identify quantitative trait loci (QTLs) linked to salinity tolerance. One hundred and ninety four polymorphic SNP markers were used to construct a genetic linkage map involving 142 selected RILs that covered 1441.96 cM genome with an average distance of 7.88 cMbetween loci. Twenty new QTLs (LOD > 3) were identified on chromosomes 1, 2, 4, 6, 8, 9 and 12 using composite interval mapping with R2 as high as >20% with LODvalue of 7.21. Many earlier studies reported big qSaltol for seedling stage salinity tolerance in rice is on short arm of chromosome 1 but none of the QTL in our study was on qSaltol or nearby position, therefore, Hasawi conferred salinity tolerance in RILs due to novel QTLs. It is suggested to fine map the novel QTLs so that the level of salinity tolerance could be further enhanced by pyramiding of the different QTLs in one genetic background through marker-assisted selection.

43 citations


Journal ArticleDOI
TL;DR: It is suggested that the manner in which niche construction theory is pushed in the literature looks more like an exercise in academic niche construction whereby, through incessant repetition of largely untenable claims, and the deployment of rhetorically appealing but logically dubious analogies, a receptive climate for a certain sub-discipline is sought to be manufactured within the scientific community.
Abstract: In recent years, fairly far-reaching claims have been repeatedly made about how niche construction, the modification by organisms of their environment, and that of other organisms, represents a vastly neglected phenomenon in ecological and evolutionary thought. The proponents of this view claim that the niche construction perspective greatly expands the scope of standard evolutionary theory and that niche construction deserves to be treated as a significant evolutionary process in its own right, almost at par with natural selection. Claims have also been advanced about how niche construction theory represents a substantial extension to, and re-orientation of, standard evolutionary theory, which is criticized as being narrowly gene-centric and ignoring the rich complexity and reciprocity of organism-environment interactions. We examine these claims in some detail and show that they do not stand up to scrutiny. We suggest that the manner in which niche construction theory is sought to be pushed in the literature is better viewed as an exercise in academic niche construction whereby, through incessant repetition of largely untenable claims, and the deployment of rhetorically appealing but logically dubious analogies, a receptive climate for a certain sub-discipline is sought to be manufactured within the scientific community. We see this as an unfortunate, but perhaps inevitable, nascent post-truth tendency within science.

38 citations


Journal ArticleDOI
TL;DR: The cooverexpression of EpCAM and c-myc in breast tumours collected from breast cancer patients of the Iranian population was demonstrated and was significantly associated with reduced and enhanced risk of ER/PR positivity respectively.
Abstract: The overexpression of epithelial cell adhesion molecule (EpCAM), a proto-oncogene, affects progression, treatment, and diagnosis of many adenocarcinomas. C-myc has been shown to be a downstream target of EpCAM and is also one of the most important proto-oncogenes routinely overexpressed in breast cancer. However, cooverexpression of EpCAM and c-myc genes has not been investigated in breast cancer tissues, particularly in Iranian population. The aim of this study was to assess the expression of EpCAM and c-myc genes in malignant breast cancer tissues using reverse transcriptase-quantitative polymerase chain reaction (RT-qPCR) followed by analyses of the association between the outcomes. In this study, 122 fresh tissues, including 104 malignant and 18 benign samples, were disrupted by mortar and pestle, and then the RNA was isolated from the samples and converted to cDNA. The relative expression levels of EpCAM and c-myc genes were measured by 2-ΔΔCt method using RT-qPCR. EpCAM protein level was also assessed in 66 cases using Western blot technique. Using RT-qPCR method, our results showed that EpCAM was overexpressed in 48% of malignant and 11.1% of benign samples. Evaluating EpCAM protein overexpression in a portion of samples depicted the fully concordance rate between Western blot and RT-qPCR techniques. C-myc expression was first evaluated by RT-qPCR method, showing the overexpression rate of 39% and 28% in malignant and benign samples, respectively. These data were also quite concordant with the clinically available immunohistochemistry reports of the same samples studied in this study. Importantly, overexpression of EpCAM and c-myc was significantly associated and showed an agreement of 57.3%. This study demonstrated the cooverexpression of EpCAM and c-myc in breast tumours collected from breast cancer patients of the Iranian population. EpCAM and c-myc positive cases were significantly associated with reduced and enhanced risk of ER/PR positivity respectively. However, both were associated with grade III of breast cancer.

37 citations


Journal ArticleDOI
TL;DR: This review attempts a brief overview of the periodically reviewed and debated ‘classical’ TEI phenomena and their possible implications for evolution, and focuses on a less-discussed, unique kind of protein-only epigenetic inheritance mediated by prions.
Abstract: The field of epigenetics has grown explosively in the past two decades or so. As currently defined, epigenetics deals with heritable, metastable and usually reversible changes that do not involve alterations in DNA sequence, but alter the way that information encoded in DNA is utilized. The bulk of current research in epigenetics concerns itself with mitotically inherited epigenetic processes underlying development or responses to environmental cues (as well as the role of mis-regulation or dys-regulation of such processes in disease and ageing), i.e., epigenetic changes occurring within individuals. However, a steadily growing body of evidence indicates that epigenetic changes may also sometimes be transmitted from parents to progeny, meiotically in sexually reproducing organisms or mitotically in asexually reproducing ones. Such transgenerational epigenetic inheritance (TEI) raises obvious questions about a possible evolutionary role for epigenetic ‘Lamarckian’ mechanisms in evolution, particularly when epigenetic modifications are induced by environmental cues. In this review I attempt a brief overview of the periodically reviewed and debated ‘classical’ TEI phenomena and their possible implications for evolution. The review then focusses on a less-discussed, unique kind of protein-only epigenetic inheritance mediated by prions. Much remains to be learnt about the mechanisms, persistence and effects of TEI. The jury is still out on their evolutionary significance and how these phenomena should be incorporated into evolutionary theory, but the growing weight of evidence indicates that likely evolutionary roles for these processes need to be seriously explored.

30 citations


Journal ArticleDOI
TL;DR: The genetic polymorphism of genes involved in pesticide metabolism and highlighting the gene isoform dependent interindividual differences to metabolize particular pesticides may help to unravel the reasons behind differential toxicity for pesticides exposure than expected.
Abstract: In the present scenario of increased accumulation of pesticides in the environment, it is important to understand its impact on human health. The focus is on gene–environment interaction, highlighting the consequences and factors that may halt the biotransformation of some pesticides and change their actual dose response curve due to mixed exposure to pesticides. The paraoxonase and cytochrome P450 gene families are involved in the metabolism of oxon derivate (toxic than its parent compound) of organophosphate pesticides, thus, mutations in these genes may impact the metabolic outcome of pesticides and subsequent health hazards. The complex multi gene–environment interaction and one gene – one risk factor are two different aspects to understand the potential health effect related to environmental exposure studies. The genetic polymorphisms are associated with varying levels of risk within the population, as gene products of varied genotype alter the biotransformation of exogenous/endogenous substrates. This paper is aimed to review the impact of endogenous and exogenous factors on a mechanistic pathway of organophosphate pesticide biotransformation and various risk associated with it among the human population. Understanding the genetic polymorphism of genes involved in pesticide metabolism and highlighting the gene isoform dependent interindividual differences to metabolize particular pesticides may help us to unravel the reasons behind differential toxicity for pesticides exposure than expected.

30 citations


Journal ArticleDOI
TL;DR: The expression patterns indicate that most CsDCLs, CsAGO and CsRDR family genes respond to abiotic stress, and stems or flowers are the most sensitive organs, followed by roots.
Abstract: Posttranscriptional control of gene expression can be achieved through RNA interference when the activities of Dicer-like (DCL), argonaute (AGO) and RNA-dependent RNA polymerase (RDR) proteins are significant. In this study, we analysed the expression of seven AGO, five DCL and eight RDR genes in cucumber under cold, heat, hormone, salinity and dehydration treatments using quantitative reverse-transcription PCR (qRT-PCR). All CsAGO, CsDCL and CsRDR genes were differentially expressed under abiotic stress treatment. In response to abiotic stress treatment, most genes were expressed at higher levels in flowers or stems than in other organs, whereas some CsAGOs (CsAGO1c, CsAGO6 and CsAGO7) and CsRDRs (CsRDR1d and CsRDR2) were highly expressed in roots during dehydration treatment. The expression patterns indicate that most CsDCLs, CsAGOs and CsRDRs respond to abiotic stress, and stems or flowers are the most sensitive organs, followed by roots. This is the first report of expression analysis of all CsDCL, CsAGO and CsRDR family genes in cucumber under abiotic stress, which provides basic information and insights into the putative roles of these genes in abiotic stress. The results of this study should serve as a basis for further functional characterization of these gene families in cucumber and related Cucurbitaceae species.

26 citations


Journal ArticleDOI
TL;DR: Standard evolutionary theories are adequate to explore selection pressures on their composite or individual traits, and composite organisms that are physically nested within each other are found.
Abstract: Symbiosis is a process that can generate evolutionary novelties and can extend the phenotypic niche space of organisms. Symbionts can act together with their hosts to co-construct host organs, within which symbionts are housed. Once established within hosts, symbionts can also influence various aspects of host phenotype, such as resource acquisition, protection from predation by acquisition of toxicity, as well as behaviour. Once symbiosis is established, its fidelity between generations must be ensured. Hosts evolve various mechanisms to screen unwanted symbionts and to facilitate faithful transmission of mutualistic partners between generations. Microbes are the most important symbionts that have influenced plant and animal phenotypes; multicellular organisms engage in developmental symbioses with microbes at many stages in ontogeny. The co-construction of niches may result in composite organisms that are physically nested within each other. While it has been advocated that these composite organisms need new evolutionary theories and perspectives to describe their properties and evolutionary trajectories, it appears that standard evolutionary theories are adequate to explore selection pressures on their composite or individual traits. Recent advances in our understanding of composite organisms open up many important questions regarding the stability and transmission of these units.

26 citations


Journal ArticleDOI
TL;DR: This issue corrects Gupta et al.
Abstract: Gupta et al., in their article in this issue ('Niche construction in evolutionary theory: the construction of an academic niche?'. doi:10.1007/s12041-017-0787-6), lament 'serious problems with the way science is being done' and suggest that 'niche construction theory exemplifies this state of affairs.' However, their aggressively confrontational but superficial critique of niche construction theory (NCT) only contributes to these problems by attacking claims that NCT does not make. This is unfortunate, as their poor scholarship has done a disservice to the evolutionary biology community through propagating misinformation.We correct Gupta et al.'s misunderstandings, stressing that NCT does not suggest that the fact that organisms engage in niche construction is neglected, nor does it make strong claims on the basis of its formal theory. Moreover, the treatment of niche construction as an evolutionary process has been highly productive, and is both theoretically and empirically well-validated.We end by reflecting on the potentially deleterious implications of their publication for evolutionary science.

21 citations


Journal ArticleDOI
TL;DR: The study results were suggestive of a positive association between Gly972Arg of IRS1 and PCOS in the south Indian population, while INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 failed to show any association with PCos in the studied population.
Abstract: Polycystic ovary syndrome (PCOS) is the most common and a complex female endocrine disorder, and is one of the leading cause of female infertility. Here, we aimed to investigate the association of single-nucleotide polymorphism of INS, INSR, IRS1, IRS2, PPAR-G and CAPN10 gene in the pathogenesis of PCOS. A hospital-based, observational case–control study was carried on 169 PCOS and 169 control women in the southern region of India. Genotype was carried out by real-time polymerase chain reaction. A chi-square (χ 2) test was performed and the genotypes were verified to comply with the Hardy–Weinberg equilibrium. Odds ratio and 95% confidence interval were calculated to assess the relative risk. Comparison of clinical characteristics of women with PCOS and controls reveal an increase in body mass index (BMI), luteinizing hormone / follicle stimulating hormone (LH/FSH) ratio, glucose levels, insulin, testosterone, hirsutism and antral follicular count in PCOS women. The variant rs1801278 (P=0.002; OR = 2.88; 95% CI = 1.43, 5.80) show an association with PCOS. In the genotypic (P=0.0002) and allelic models (P=0.000), significance persisted even after Bonferroni correction. The genotypes of SNPs strongly influence BMI, LH, LH/FSH ratio, ovarian volume and antral follicular count in PCOS women. The study results were suggestive of a positive association between Gly972Arg of IRS1 and PCOS in the south Indian population, while INS, IRS2, PPAR-G and CAPN10 failed to show any association with PCOS in our studied population. Further studies focussing the role of IRS1 are warranted to delineate its implication towards PCOS.

21 citations


Journal ArticleDOI
TL;DR: It is argued that while generalized frameworks may work well for concepts of what species are, plurality and ‘inclusive’ probabilistic approaches may work best for delimitation.
Abstract: The history of ecology and evolutionary biology is rife with attempts to define and delimit species. However, there has been confusion between concepts and criteria, which has led to discussion, debate, and conflict, eventually leading to lack of consistency in delimitation. Here, we provide a broad review of species concepts, a clarification of category versus concept, an account of the general lineage concept (GLC), and finally a way forward for species discovery and delimitation. Historically, species were considered as varieties bound together by reproduction. After over 200 years of uncertainty, Mayr attempted to bring coherence to the definition of species through the biological species concept (BSC). This has, however, received much criticism, and the last half century has spawned at least 20 other concepts. A central philosophical problem is that concepts treat species as 'individuals' while the criteria for categorization treats them as 'classes'. While not getting away from this problem entirely, the GLC attempts to provide a framework where lineage divergence is influenced by a number of different factors (and correlated to different traits) which relate to the different species concepts. We also introduce an 'inclusive' probabilistic approach for understanding and delimiting species. Finally, we provide aWallacean (geography related) approach to the Linnaean problem of identifying and delimiting species, particularly for cases of allopatric divergence, and map this to the GLC. Going one step further, we take a morphometric terrain approach to visualizing and understanding differences between lineages. In summary, we argue that while generalized frameworks may work well for concepts of what species are, plurality and 'inclusive' probabilistic approaches may work best for delimitation.

Journal ArticleDOI
TL;DR: The results of a genomewide association study focussing on seeding emergence and tiller number at different growth stages with a panel of 205 elite winter wheat accessions should provide valuable information for marker-assisted selection and parental selection in wheat breeding programmes.
Abstract: Seeding emergence and tiller number are the most important traits for wheat (Triticum aestivum L.) yield, but the inheritance of seeding emergence and tillering is poorly understood. We conducted a genomewide association study focussing on seeding emergence and tiller number at different growth stages with a panel of 205 elite winter wheat accessions. The population was genotyped with a high-density Illumina iSelect 90K SNPs assay. A total of 31 loci were found to be associated with seeding emergence rate (SER) and tiller number in different growth stages. Loci distributed among 12 chromosomes accounted for 5.35 to 11.33% of the observed phenotypic variation. With this information, 10 stable SNPs were identified for eventual development of cleaved amplified polymorphic sequence markers for SER and tiller number in different growth stages. Additionally, a set of elite alleles were identified, such as Ra_c14761_1348-T, which may increase SER by 13.35%, and Excalibur_c11045_236-A and BobWhite_c8436_391-T, which may increase the rate of available tillering by 14.78 and 8.47%, respectively. These results should provide valuable information for marker-assisted selection and parental selection in wheat breeding programmes.

Journal ArticleDOI
TL;DR: The data suggest that pouMU1 might participate in regulating chicken muscle development and growth, and the findings offer new insight into the functions of sequence mutations in lncRNAs.
Abstract: The biological functions of long noncoding RNAs (lncRNAs), which play an important role in regulating development and gene expression, may be affected by variations in lncRNA gene loci or associated genomic sequences. However, the functions of many lncRNAs remain unknown. To analyse correlations between mutations in pouMU1 with chicken growth and carcass traits, 860 chickens from a Gushi×Anka F2 resource population and 96 Lushi, Xichuan, Changshun and recessive white chickens were used to evaluate the genetic effect of the pouMU1 gene. We performed quantitative real-time polymerase chain reaction (qRT-PCR) to analyse the relative expression levels of pouMU1 in nine different tissues and stages of development. pouMU1 expression was highest in pectoralis and leg muscles, whereas no expression was observed in the heart, liver and abdominal fat. Using direct sequencing and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods, two novel sequence mutations (g.1198A>G and g.1238-1239del/insGA) were detected in the pouMU1 gene. SPSS software was used for statistical analysis in association studies. Based on the association data, the presence of both variants was significantly associated with leg muscle fibre width and leg muscle fibre roundness (P < 0.05) and highly associated with leg muscle fibre girth and body weight at 0 week of age (P < 0.01). These data suggest that pouMU1 might participate in regulating chicken muscle development and growth, and the findings offer new insight into the functions of sequence mutations in lncRNAs.

Journal ArticleDOI
TL;DR: Findings indicate that genetic polymorphisms of NFKB1A rs696, NFKBIA-rs696, pre-miR-146a rs2910164 and pre- miR-499 rs3746444 may represent novel markers of AT susceptibility.
Abstract: Atherosclerosis (AT) is a chronic immuno-inflammatory disease characterized by inflammatory mediators and immune activation in arterial wall. Although NF-κB and microRNAs are involved in the atherosclerotic lesions, the pathogenesis of atherosclerosis is still unknown. The aim of this study was to investigate the association of atherosclerosis with NFKB1-rs28362491, NFKBIA-rs696, pre-miRNA-146a-rs2910164 and pre-miRNA-499-rs3746444 polymorphisms as well as the analysis of their single and combined effects on its susceptibility in a Turkish population. We analysed the distribution of NFKB1-94 ins/del ATTG (rs28362491), NFKBIA (rs696), pre-miR-146a (rs2910164) and pre-miR-499 (rs3746444) genetic polymorphisms using PCR-RFLP assay in 150 atherosclerotic patients and 145 healthy controls in a Turkish population. The data revealed no significant differences in the distribution of the genotype and alleles of rs28362491 ,whereas AA genotype of rs696 lead to a higher risk for atherosclerotic patients. TT genotype and T allele of pre-miR-499 rs3746444 were found to be associated with atherosclerosis risk. In addition, significant differences were found between atherosclerotic patients and control subjects, concerning pre-miR-146a rs2910164 polymorphism. The subjects carrying the GG genotype and G allele of rs2910164 were found to have an increased risk against AT. The results of combined genotype analysis, showed no notable differences between the multiple comparisons of rs28362491- rs696 whereas rs28362491-rs2910164 ins/ins/GG is associated with increased AT risk. The combined genotypes of rs28362491/rs3746444 ins/ins/TT, revealed a significant protective effect on AT. These findings indicate that genetic polymorphisms of NFKB1A rs696, pre-miR-146a rs2910164 and pre-miR-499 rs3746444 may represent novel markers of AT susceptibility.

Journal ArticleDOI
Xiaohua Xia1, Weiran Huo1, Ruyan Wan1, Xiaopei Xia1, Qiyan Du1, Zhongjie Chang1 
TL;DR: This study evaluated the expression of four commonly used housekeeping genes in Misgurnus anguillicaudatus and suggested that in the qRT-PCR test, EF-1a could be selected as reference gene when analysing a target gene.
Abstract: Quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) is a well-known method to quantify gene expression by comparing with the reference genes. Generally, housekeeping genes were set as references, as for their stable expression in varying conditions. Here, we try to evaluate few of such genes to identify suitable housekeeping genes as references for qRT-PCR analysis of gene expression in Misgurnus anguillicaudatus. This study evaluated the expression of four commonly used housekeeping genes, i.e. b-actin (ACTB), elongation factor 1 alpha (EF-1a), glyceraldehyde-3-phosphate (GAPDH) and 18S ribosomal RNA (18S rRNA), in gender difference, effects of tissue type, different developmental stages, chemical treatment of embryos/larvae with commonly used vehicles for administration and agents that represent known environmental toxicant. Rank ordering of expression stability was done using geNorm, NormFinder and BestKeeper algorithms. Results suggested that in the qRTPCR test, in all the experimental conditions, EF-1a could be selected as reference gene when analysing a target gene. For the study of different development stages, ACTB could be a candidate as reference gene. For the studies associated with different gender and tissue types, EF-1a would be better targeted as reference gene. Meanwhile, in toxicant treatment, expression of EF-1a seems to be more stable than others and could be considered as reference gene. This study could provide useful guidelines that can be expected to aid M. anguillicaudatus researchers in their initial choice of housekeeping genes for future studies and enable more accurate normalization of gene expression data.

Journal ArticleDOI
TL;DR: This is the first report on PRNP gene variation in Turkish native goat breeds and knowledge of these polymorphisms will assist goat breeding programmes to reduce the risk of scrapie.
Abstract: Susceptibility to 'scrapie' disease in goats is influenced by polymorphisms of the prion protein (PRNP) gene The aim of this study was to identify PRNP gene polymorphisms in a total of 356 scrapie disease-free goats from 10 Turkish native breeds Eighteen single-nucleotide polymorphisms were detected in the caprine PRNP open-reading frame Ten previously described amino acid substitutions (I142M, H143R, N146S, N146D, R151H, R154H, P168Q, R211Q, Q222K and P240S) and two novel dimorphisms (G134E and Q163P) were identified The strongest association between caprine PRNP and relative resistance to scrapie disease has been reported previously for polymorphisms at codons 146 (S/D) and 222 (K) In the present study, these three PrP variants were relatively rare with 63% This is the first report on PRNP gene variation in Turkish native goat breeds and our knowledge of these polymorphisms will assist goat breeding programmes to reduce the risk of scrapie

Journal ArticleDOI
TL;DR: The combination of these two genes in the cultivar HD2733 is expected to provide durable leaf rust resistance in farmers’ fields.
Abstract: This study was undertaken to pyramid two effective leaf rust resistance genes (Lr19 and Lr24) derived from Thinopyrum (syn. Agropyron), in the susceptible, but agronomically superior wheat cultivar HD2733 using marker-assisted selection. In the year 2001, HD2733 was released for irrigated timely sown conditions of the north eastern plains zone (NEPZ) of India became susceptible to leaf rust, a major disease of the region. Background selection helped in developing near-isogenic lines (NILs) of HD2733 with Lr19 and Lr24 with 97.27 and 98.94%, respectively, of genomic similarity with the parent cultivar, after two backcrossing and one generation of selfing.NILs were intercrossed to combine the genes Lr19 and Lr24. The combination of these two genes in the cultivar HD2733 is expected to provide durable leaf rust resistance in farmers' fields.

Journal ArticleDOI
TL;DR: The main ideas put forward by Haldane in this famous text on the origin of life on earth are presented and how they were linked to the recent developments of prebiotic chemistry and molecular biology are shown.
Abstract: In 1929 the British biologist John Burdon Sanderson Haldane published a hypothesis on the origin of life on earth, which was one of the most emblematic of the interwar period. It was a scenario describing the progressive evolution of matter on the primitive earth and the emergence of life. Firstly, this paper presents the main ideas put forward by Haldane in this famous text. The second part makes comparisons between Haldane and Alexander Ivanovitch Oparin's ideas regarding the origins of life (1924). These two theories, apparently very similar, presented distinct conclusions. The third part focusses on Haldane's reflections on the emergence of life during the 1950s and 1960s, and shows how they were linked to the recent developments of prebiotic chemistry and molecular biology.

Journal ArticleDOI
TL;DR: Results suggest that the two SNPs of FSHR gene are associated with egg production traits and could be potential markers that can be used for marker-assisted selection programmes to increase egg production in muscovy duck.
Abstract: Follicle-stimulating hormone (FSH) and its receptor play a key role in the follicular development and regulation of steroidogenesis in the ovary and spermatogenesis in the testis. The purpose of this study was to characterize the muscovy duck FSHR gene, identify SNPs and their association with egg production traits in muscovy ducks. Here, we cloned the complementary DNA (cDNA) sequence of FSHR, and examined the expression patterns of FSHR gene in adult female muscovy duck tissues. The cloned cDNA of the muscovy duck FSHR gene shared high similarity to those of pekin duck (Anas platyrhynchos) (95.7%) and chicken (93.2%). Three different muscovy duck FSHR transcripts were identified. Quantitative real-time PCR (RT-qPCR) results showed that the FSHR gene was expressed in all the 14 tested tissues, and the highest expression level was seen in the ovary. A total of 16 SNPs were identified, among which, four SNPs were located in the coding region of FSHR. The SNP C320T is significantly associated with egg production at 59 weeks of age ( $$P < 0.05$$ ), whereas the SNP A227G is significantly associated with age at first egg stage ( $$P< 0.05$$ ). These results suggest that the two SNPs (A227G and C320T) of FSHR gene are associated with egg production traits and could be potential markers that can be used for marker-assisted selection programmes to increase egg production in muscovy duck.

Journal ArticleDOI
TL;DR: LCORL was selected as the candidate gene that can contribute to improved marker-assisted selection for the meat performance of Qinchuan beef cattle.
Abstract: Molecular marker-assisted selection is a better way to satisfy the growing customer requirement with the development of beef cattle growth and breeding research. For now, quantitative trait locus (QTL) for cattle growth and carcass traits, just like body height, body length and carcass weight have been detected on bovine chromosome 6. In this study, ligand-dependent nuclear receptor corepressor-like (LCORL) was selected as the potential positional candidate gene located in chromosome 6 which is closely connected with the bovine growth and carcass traits. A total of 450 Qinchuan beef cattle were used to detect mutations in exon and its neighbouring region, and the promoter region of the bovine LCORL gene. The methods for SNPs detection were polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and created restriction site PCR (CRSPCR), and the results of this study show that there were two variations in intron regions, the other four variations were located in the promoter region. Linkage disequilibrium analysis and haplotype analysis indicated that L78-Q4 had strong linkage disequilibrium, A T G C G C (16.2%) and G C G C A T (16.7%) had higher haplotype frequencies, G C A C A C (0.8%) and G T A C A T (0.7%) had lower haplotype frequencies. Correlation analysis indicated that SNP g. INT+52098A>G was significantly associated with slaughter weight and carcass weight. Based on the research, we selected LCORL as the candidate gene that can contribute to improved marker-assisted selection for the meat performance of Qinchuan beef cattle.

Journal ArticleDOI
Qingpo Chu1, Tingting Liang1, Lingling Fu1, Huizhi Li1, Bo Zhou1 
TL;DR: It is confirmed that Chinese Mi pigs are less active and less aggressive than EuropeanLLW pigs, and the genetic polymorphisms of neurotransmitter-related genes, which have been proved previously associated with aggressive behaviour, have considerable differences between Mi and LLW pigs.
Abstract: Aggression is a heritable trait and genetically related to neurotransmitter-related genes. Behavioural characteristics of some pig breeds are different. To compare the genetic differences between breeds, backtest and aggressive behaviour assessments, and genotyped using Sequenom iPLEX platform were performed in 50 Chinese indigenous Mi pigs and 100 landrace-large white (LLW) cross pigs with 32 SNPs localized in 11 neurotransmitter-related genes. The genetic polymorphisms of 26 SNPs had notable differences (P < 0.05) between Mi and LLW. The most frequent haplotypes were different in DBH, HTR2A, GAD1, HTR2B,MAOA and MAOB genes between Mi and LLW. The mean of backtest scores was significantly lower (P < 0.001) for Mi than LLW pigs. Skin lesion scores were greater (P < 0.01) in LLW pigs than Mi pigs. In this study, we have confirmed that Chinese Mi pigs are less active and less aggressive than European LLW pigs, and the genetic polymorphisms of neurotransmitter-related genes, which have been proved previously associated with aggressive behaviour, have considerable differences between Mi and LLW pigs.

Journal ArticleDOI
Sonali Sengupta1
TL;DR: The importance of ncRNAs in protein quality control system of cell that is implicated in this fatal group of neurodegenerative diseases is summarized.
Abstract: The importance of noncoding genome has become more evident in recent years. Before genome sequencing, the most well studied portion of our genome was protein coding genes. Interestingly, this coding portion accounted only for 1.5% of the genome, the rest being the noncoding sequences. Noncoding RNAs (ncRNAs) are involved in normal cell physiology, stress, and disease states. A class of small ncRNAs and miRNAs has gained much importance because of its involvement in human diseases such as cancer. Involvement of long ncRNAs have also been acknowledged in other human diseases, especially in neurodegenerative diseases. Neurodegenerative diseases are characterized by the presence of abnormally folded proteins that are toxic to the cell. Several studies from model organisms suggest upregulation of pathways that clear this toxic protein may provide protection against neurodegeneration. In this review, I summarize the importance of ncRNAs in protein quality control system of cell that is implicated in this fatal group of neurodegenerative diseases.

Journal ArticleDOI
TL;DR: It is proposed that the complexity of living systems can be understood through two interdependent structural properties: multiscalarity of interconstituent mechanisms and excitability of the biological materials.
Abstract: The term complexity means several things to biologists. When qualifying morphological phenotype, on the one hand, it is used to signify the sheer complicatedness of living systems, especially as a result of the multicomponent aspect of biological form. On the other hand, it has been used to represent the intricate nature of the connections between constituents that make up form: a more process-based explanation. In the context of evolutionary arguments, complexity has been defined, in a quantifiable fashion, as the amount of information, an informatic template such as a sequence of nucleotides or amino acids stores about its environment. In this perspective, we begin with a brief review of the history of complexity theory. We then introduce a developmental and an evolutionary understanding of what it means for biological systems to be complex. We propose that the complexity of living systems can be understood through two interdependent structural properties: multiscalarity of interconstituent mechanisms and excitability of the biological materials. The answer to whether a system becomes more or less complex over time depends on the potential for its constituents to interact in novel ways and combinations to give rise to new structures and functions, as well as on the evolution of excitable properties that would facilitate the exploration of interconstituent organization in the context of their microenvironments and macroenvironments.

Journal ArticleDOI
TL;DR: It is concluded that given the absence of truth in common characteristics between archaea and bacteria, the origin of genes of proteins should have been polyphyletic.
Abstract: An analysis has been performed on implications existing between the presence/absence of the evolutionary stage of the prokaryote, that is to say, the presence/absence of common characteristics between archaea and bacteria, and the monophyletic/polyphyletic origin of genes of proteins. Thereafter, a theorem stating that: 'the polyphyletic origin of proteins would imply the absence of common characteristics between bacteria and archaea and therefore the lack of the evolutionary stage of the prokaryote, and vice versa that the indefinable prokaryote stage implies a polyphyletic origin of proteins', has been made and validated. The conclusion is that given the absence of truth in common characteristics between archaea and bacteria, the origin of genes of proteins should have been polyphyletic.

Journal ArticleDOI
TL;DR: The knowledge gained from the present study will allow for an estimation of the projected number of pregnant women at risk for thalassaemia, and the design of a screening strategy for the control of thalASSaemia in Changsha.
Abstract: Hunan province located in the south of China has a high incidence of haemoglobinopathies. In the present study, we surveyed the accurate population frequency data of the local population in Changsha city of Hunan province in China. The data includes the carrying rate, gene mutation types and their distribution features for thalassaemia. In total, 7500 consecutive samples from five geographical areas of Changsha were analysed for both haematological and molecular parameters. Therewas a high prevalence of carriers of α-thalassaemia (2.57%), β-thalassaemia (1.9%) and both α-thalassaemia and β-thalassaemia (0.08%). Overall, 4.54% of the population in this area represented heterozygous carriers of α-thalassaemia and β-thalassaemia. The mutation spectrum of α-thalassaemia and β-thalassaemia and its haematological characterization were fully described for this area. The present study is the first to report the prevalence of thalassaemia in Hunan province population. Both α-thalassaemia and β-thalassaemia carriers are widely distributed in Changsha. The knowledge gained from the present study will allow for an estimation of the projected number of pregnant women at risk for thalassaemia, and the design of a screening strategy for the control of thalassaemia in Changsha.

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TL;DR: It is confirmed that the rs1676486 of COL11A may be functionally associated with LDH in the Chinese population and Extracellular matrix related proteins may play an important role in the pathogenesis of LDH.
Abstract: This study aimed to explore whether the genetic variant of COL11A1 is functionally associated with the development of lumbar disc herniation (LDH) in Chinese population. SNP rs1676486 of COL11A1 was genotyped in 647 patients and 532 healthy controls. The differences of genotype and allele distributions between LDH patients and healthy controls were evaluated using the χ² test. One-way ANOVA test was used to compare the relationship between genotypes and clinical features including tissue expression of COL11A1 and the degree of disc degeneration. Patients were found to have a significantly higher frequency of TT than the controls (10.2% versus 7.3%, P = 0.004). Besides, the frequency of allele T was found to be remarkably higher in the patients than the controls (34.8% versus 28.1%, P < 0.001) with an odds ratio of 1.36 (95% confidential interval=1.14-1.63). Patients with genotype TT were found to have remarkably more severe disc degeneration (P = 0.02). Besides, the expression of COL11A1 in the lumbar disc was significantly lower in the patients with genotype TT than in those with genotype CT or CC (P < 0.001). Moreover, the expression level was inversely correlated with the severity of disc degeneration (P < 0.001). We confirmed that the rs1676486 of COL11A may be functionally associated with LDH in the Chinese population. Extracellular matrix related proteins may play an important role in the pathogenesis of LDH. Our findings shed light on a better understanding of the pathogenesis of LDH, which could be a promising target for a novel treatment modality of LDH.

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TL;DR: Properties of photoperiodic recessive alleles in these two most popular Indian cultivars suggested for their role in conferring early flowering and maturity and possibility of identification of new alleles or mechanism for ILD insensitivity and use of photoinsensitivity in Indian conditions are discussed.
Abstract: Allelic combinations of major photoperiodic (E1, E3, E4) and maturity (E2) genes have extended the adaptation of quantitative photoperiod sensitive soybean crop from its origin (China ∼35◦N latitude) to both north (up to ∼50◦N) and south (up to 40◦S) latitudes, but their allelic status and role in India (6-35◦N) are unknown. Loss of function and hypoactive alleles of these genes are known to confer photoinsensitivity to long days and early maturity. Early maturity has helped to adapt soybean to short growing season of India. We had earlier found that all the Indian cultivars are sensitive to incandescent long day (ILD) and could identify six insensitive accessions through screening 2071 accessions under ILD. Available models for ILD insensitivity suggested that identified insensitive genotypes should be either e3/e4 or e1 (e1-nl or e1-fs) with either e3 or e4. We found that one of the insensitive accessions (EC 390977) was of e3/e4 genotype and hybridized it with four ILD sensitive cultivars JS 335, JS 95-60, JS 93-05, NRC 37 and an accession EC 538828. Inheritance studies and marker-based cosegregation analyses confirmed the segregation of E3 and E4 genes and identified JS 93-05 and NRC 37 as E3E3E4E4 and EC 538828 as e3e3E4E4. Further, genotyping through sequencing, derived cleaved amplified polymorphic sequences (dCAPS) and cleaved amplified polymorphic sequences (CAPS) markers identified JS 95-60 with hypoactive e1-as and JS 335 with loss of function e3-fs alleles. Presence of photoperiodic recessive alleles in these two most popular Indian cultivars suggested for their role in conferring early flowering and maturity. This observation could be confirmed in F2 population derived from the cross JS 95-60 × EC 390977, where individuals with e1-as e1-as and e4e4 genotypes could flower 7 and 2.4 days earlier, respectively. Possibility of identification of new alleles ormechanism for ILD insensitivity and use of photoinsensitivity in Indian conditions have been discussed.

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TL;DR: It is impossible to understand Haldane’s position on Lysenkoism without first introducing the term Lysenkovschina in English, and I hereby do so.
Abstract: On 7 August 1948, at the end of a week-long session of the Lenin All-Union Academy of Agricultural Sciences in Moscow, Trofim D. Lysenko declared he had received the support of the Central Committee of the Communist Party of the Soviet Union for his biological theories. Lysenko’s beliefs about heredity and development, which he labelled ‘Michurinism’, consisted of a variety of ideas based upon his assumption that plants could adapt to survive in any climate, and be transformed into different species.1 Lysenko claimed genetics was a ‘bourgeois’ science devised to promote racism and imperialism, and to prove the inherent inferiority of the working class. What followed was a purge of genetics across the USSR that soon spread throughout Soviet-allied states worldwide. When the nations subjected to Lysenko’s dictates finally emerged from the fog of Lysenkoism decades later what they encountered was a genetics that had to a certain extent been formulated in reaction to Lysenko’s opposition to the gene, and belief in the dominant role of the environment in evolution.2 Among the greatest difficulties in assessing J. B. S. Haldane’s response to Lysenko is the lack of the term Lysehkovwiha (Lysenkovschina) in English. In Haldane’s mother tongue the only word used is ‘Lysenkoism’. In Russian Lysenkoism refers exclusively to the content of what Lysenko claimed was true about nature—his theories. ‘Lysenkovschina’ is specific to the politics surrounding how his ideas were promoted up to Stalin, and later Khrushchev, through the web of personalities in between. It is impossible to understand Haldane’s position on Lysenkoism without first introducing the term Lysenkovschina in English, and I hereby do so.3 The derivation of Lysenkoism and Lysenkovschina underlines the cacophony of responses to the Lysenko controversy, and highlights the motivations of its participants. Regardless of what Lysenko said, his prescriptions for rescuing Soviet agriculture from a perpetual cycle of famine and want were inseparable in the West from the collective horror over the suffering of old friends and colleagues who were victims of these years.4 In his 1927 essay Possible worlds, Haldane said the ‘future will be queerer than we “can” suppose’.5 Thirty-six years later, in a self-taped obituary for the BBC, Haldane stated ‘In my opinion Lysenko is a very fine biologist and some of his ideas are right.’6 These two sentences, taken together, precisely articulate Haldane’s position on Lysenko. No one can predict where science is going and it is reasonable to believe that at least part of what anyone said will at some point in the future appear in the column labelled ‘right’. The complicated path between Haldane’s twin assertions has yet to be described.

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TL;DR: This paper rejects both the view that the synthesis was a unification of biometry and Mendelism and the claim that it arose from work primarily done in the late 1930s and 1940s by naturalists rather than theoretical population and classical experimental geneticists.
Abstract: This paper argues that Haldane’s The causes of evolution was the most important founding document in the emergence of the received view of evolutionary theory which is typically referred to as the Modern Synthesis. Whether or not this historical development is characterized as a synthesis (which remains controversial), this paper argues the most important component of the emergence of the received view consisted of showing how the formal rules of Mendelian inheritance are based on (or emerge from) the material basis of heredity established by classical genetics primarily through the experimental work on Drosophila genetics of the Morgan school in the 1910s and 1920s. This is one of the most important achievements of Haldane’s book. Thus this paper rejects both (i) the view that the synthesis was a unification of biometry and Mendelism and (ii) the claim that it arose from work primarily done in the late 1930s and 1940s by naturalists rather than theoretical population and classical experimental geneticists.

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TL;DR: The abundant transcriptomic data generated in the present report will provide a comprehensive sequence resource for Chinese forest musk deer as well as lay down a foundation which will help in accelerating genetic and functional genomics research in this species.
Abstract: The Chinese forest musk deer (Moschus berezovskii Flerov) is an endangered artiodactyl mammal. The musk secreted by sexually mature males is highly valued for alleged pharmaceutical properties and perfume manufacturing. However, the genomic and transcriptomic resources of musk deer remain deficiently represented and poorly understood. Next-generation sequencing technique is an efficient method for generating an enormous amount of sequence data that can represent a large number of genes and their expression levels. In the present study, we used Illumina HiSeq technology to perform de novo assembly of heart and musk gland transcriptomes from the Chinese forest musk deer. A total of 239,383 transcripts and 176,450 unigenes were obtained, of which 37,329 unigenes were matched to known sequences in the NCBI nonredundant protein (Nr) database; 31,039 unigenes were assigned to 61 GO terms, and 11,782 to 332 KEGG pathways. Additionally, 592 and 2282 differentially expressed genes were found to be specifically expressed in the heart and musk gland, respectively. The abundant transcriptomic data generated in the present report will provide a comprehensive sequence resource for Chinese forest musk deer as well as lay down a foundation which will help in accelerating genetic and functional genomics research in this species.