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  • Oxford University Press  (31)
  • Molecular Diversity Preservation International  (29)
  • 1
    Publication Date: 2020-07-10
    Description: A genome wide association study reported that the T allele of rs2294008 in a cancer-related gene, PSCA, is a risk allele for diffuse-type gastric cancer. This allele has the highest frequency (0.63) in Japanese in Tokyo (JPT) among 26 populations in the 1000 Genomes Project database. FST ≈ 0.26 at this single nucleotide polymorphism is one of the highest between JPT and the genetically close Han Chinese in Beijing (CHB). To understand the evolutionary history of the alleles in PSCA, we addressed: (i) whether the C non-risk allele at rs2294008 is under positive selection, and (ii) why the mainland Japanese population has a higher T allele frequency than other populations. We found that haplotypes harboring the C allele are composed of two subhaplotypes. We detected that positive selection on both subhaplotypes has occurred in the East Asian lineage. However, the selection on one of the subhaplotypes in JPT seems to have been relaxed or ceased after divergence from the continental population; this may have caused the elevation of T allele frequency. Based on simulations under the dual structure model (a specific demography for the Japanese) and phylogenetic analysis with ancient DNA, the T allele at rs2294008 might have had high frequency in the Jomon people (one of the ancestral populations of the modern Japanese); this may explain the high T allele frequency in the extant Japanese.
    Electronic ISSN: 2073-4425
    Topics: Biology
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  • 2
    Publication Date: 2013-04-03
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
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  • 3
    Publication Date: 2015-04-11
    Description: The human cytochrome P450 ( CYP ) 2D6 gene is a member of the CYP2D gene subfamily, along with the CYP2D7P and CYP2D8P pseudogenes. Although the CYP2D6 enzyme has been studied extensively because of its clinical importance, the evolution of the CYP2D subfamily has not yet been fully understood. Therefore, the goal of this study was to reveal the evolutionary process of the human drug metabolic system. Here, we investigate molecular evolution of the CYP2D subfamily in primates by comparing 14 CYP2D sequences from humans to New World monkey genomes. Window analysis and statistical tests revealed that entire genomic sequences of paralogous genes were extensively homogenized by gene conversion during molecular evolution of CYP2D genes in primates. A neighbor-joining tree based on genomic sequences at the nonsubstrate recognition sites showed that CYP2D6 and CYP2D8 genes were clustered together due to gene conversion. In contrast, a phylogenetic tree using amino acid sequences at substrate recognition sites did not cluster the CYP2D6 and CYP2D8 genes, suggesting that the functional constraint on substrate specificity is one of the causes for purifying selection at the substrate recognition sites. Our results suggest that the CYP2D gene subfamily in primates has evolved to maintain the regioselectivity for a substrate hydroxylation activity between individual enzymes, even though extensive gene conversion has occurred across CYP2D coding sequences.
    Electronic ISSN: 1759-6653
    Topics: Biology
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  • 4
    Publication Date: 2012-11-12
    Description: The demographic history of human would provide helpful information for identifying the evolutionary events that shaped the humanity but remains controversial even in the genomic era. To settle the controversies, we inferred the speciation times ( T ) and ancestral population sizes ( N ) in the lineage leading to human and great apes based on whole-genome alignment. A coalescence simulation determined the sizes of alignment blocks and intervals between them required to obtain recombination-free blocks with a high frequency. This simulation revealed that the size of the block strongly affects the parameter inference, indicating that recombination is an important factor for achieving optimum parameter inference. From the whole genome alignments (1.9 giga-bases) of human (H), chimpanzee (C), gorilla (G), and orangutan, 100-bp alignment blocks separated by ≥5-kb intervals were sampled and subjected to estimate = μT and = 4 μgN using the Markov chain Monte Carlo method, where μ is the mutation rate and g is the generation time. Although the estimated HC differed across chromosomes, HC and HCG were strongly correlated across chromosomes, indicating that variation in is subject to variation in μ , rather than T , and thus, all chromosomes share a single speciation time. Subsequently, we estimated T s of the human lineage from chimpanzee, gorilla, and orangutan to be 6.0–7.6, 7.6–9.7, and 15–19 Ma, respectively, assuming variable μ across lineages and chromosomes. These speciation times were consistent with the fossil records. We conclude that the speciation times in our recombination-free analysis would be conclusive and the speciation between human and chimpanzee was a single event.
    Electronic ISSN: 1759-6653
    Topics: Biology
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  • 5
    Publication Date: 2014-03-21
    Description: We present a novel method for the computation of so-called prefix probabilities for linear context-free rewriting systems. Our technique streamlines previous procedures to compute prefix probabilities for probabilistic context-free grammars, probabilistic synchronous context-free grammars and probabilistic tree adjoining grammars. In addition, the methodology is general enough to be used for a wider range of problems involving, for example, several prefixes.
    Print ISSN: 0955-792X
    Electronic ISSN: 1465-363X
    Topics: Computer Science , Mathematics
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  • 6
    Publication Date: 2013-11-17
    Description: The possible losses of silicon atom population during star-forming evolution and in the (photon-dominated region) PDR environments of the interstellar medium (ISM) can have different origins, one being the charge exchange (CE) encounter with the helium cations (Si + He + ) one of the most abundant species in those environments. This work investigates the different features of the likely interaction potentials leading to asymptotic partners like Si, Si + , Si ++ and He or He + , in order to determine the influence of more accurate cross-sections on the chemical evolution of the ISM. We analyse the behaviour of interacting Si and He atoms by using ab initio quantum molecular methods. To obtain the corresponding transition probabilities, we employ a simple sequential grouping of single-crossing Landau–Zener events, and the time-dependent rate coefficients for the CE processes involved are obtained over a broad range of the gas temperatures. The results are seen to differ substantially from an earlier Langevin-type modelling of such process and further suggest a much more complex variety of possible molecular evolution mechanisms. We find, in fact, the unexpected presence of electron shake-off effects leading to Si ++ generation yielding to emission of an electron, which has never been considered before and that, although with markedly smaller cross-sections, can indeed contribute to Si losses after the primary CE event. The consequences of these novel findings are tested on evolutionary model calculations and the results discussed in detail.
    Print ISSN: 0035-8711
    Electronic ISSN: 1365-2966
    Topics: Physics
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  • 7
    Publication Date: 2016-12-07
    Description: Fluorescent proteins (FPs) are well known and broadly used as bio-imaging markers in molecular biology research. Many FP genes were cloned from anthozoan species and it was suggested that multi-copies of these genes are present in their genomes. However, the full complement of FP genes in any single coral species remained unidentified. In this study, we analyzed the FP genes in two stony coral species. FP cDNA sequences from Acropora digitifera and Acropora tenuis revealed the presence of a multi-gene family with an unexpectedly large number of genes, separated into short-/middle-wavelength emission (S/MWE), middle-/long-wavelength emission (M/LWE), and chromoprotein (CP) clades. FP gene copy numbers in the genomes of four A. digitifera colonies were estimated as 16–22 in the S/MWE, 3–6 in the M/LWE, and 8–12 in the CP clades, and, in total, 35, 31, 33, and 33 FP gene copies per individual shown by quantitative PCR. To the best of our knowledge, these are the largest sets of FP genes per genome. The fluorescent light produced by recombinant protein products encoded by the newly isolated genes explained the fluorescent range of live A. digitifera , suggesting that the high copy multi- FP gene family generates coral fluorescence. The functionally diverse multi- FP gene family must have existed in the ancestor of Acropora species, as suggested by molecular phylogenetic and evolutionary analyses. The persistence of a diverse function and high copy number multi- FP gene family may indicate the biological importance of diverse fluorescence emission and light absorption in Acropora species.
    Electronic ISSN: 1759-6653
    Topics: Biology
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  • 8
    Publication Date: 2014-05-18
    Description: Fish use olfaction to detect a variety of nonvolatile chemical signals, and thus, this sense is key to survival and communication. However, the contribution of the olfactory sense to social—especially reproductive—interactions in cichlids is still controversial. To obtain insights into this issue, we investigated the genes encoding V1Rs—possible candidates for reproductive pheromone receptors—among East-African cichlids. Interestingly, we found an excess of nonsynonymous over synonymous substitutions in four of six V1R genes in multiple cichlid lineages. First, we found that highly dimorphic V1R2 allele groups were shared among the cichlids inhabiting all East-African Great Lakes emerged through the episodic accumulation of the nonsynonymous substitutions prior to the radiation of the Lake Tanganyika species flock. We further detected such episodic events in V1R1 of the tribe Tropheini, and in V1R3 and V1R6 of the tribe Trematocarini. The excess of nonsynonymous substitutions in these examples were indicated as d N /d S 〉 1, which were all statistically significant by Fisher’s exact test. Furthermore, we speculate that the amino acid changes in these episodic events are likely functional switch because they occurred in the putative ligand-binding pocket. Our finding of the occurrence of multiple episodic events and the unexpected gene diversity in one unique gene family is suggestive of the contribution of the V1R to the species diversification and the social interaction in cichlids.
    Electronic ISSN: 1759-6653
    Topics: Biology
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  • 9
    Publication Date: 2020-05-07
    Description: Adaptation to climate change means adjustment of human and natural systems to climatic actual or expected events, in order to minimize damage or maximize benefit. Adaptation implies involvement, coordination, and cooperation of different actors and sectors. Multi-actor collaboration usually characterizes the drafting of regional plans, which act as bridges between national and local administrative levels. Regional administrations address resilience issues, through spatial planning processes. This study focuses on the regional plans adopted by the Autonomous Region of Sardinia (Italy), south European Mediterranean region, an area that will be negatively affected by climate change in the coming decades. We aim at proposing a method for scrutinizing regional plans related to spatial planning issues, by using criteria rooted in the scientific literature and adaptation strategies. We found out that (i) the scientific literature did not sufficiently address the role of regional plans in the context of adaptation to climate change and (ii) the method proposed and applied in this study highlights whether some key adaptation issues are included in the plans, and might make aware planners and policy makers of basic information concerning the interplay ‘regional planning vs. adaptation to climate change’.
    Electronic ISSN: 2071-1050
    Topics: Energy, Environment Protection, Nuclear Power Engineering
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  • 10
    Publication Date: 2020-06-17
    Description: Dyslexia, or reading disability, is found to have a genetic basis, and several related genes have been reported. We investigated whether natural selection has acted on single nucleotide polymorphisms (SNPs) that were reported to be associated with risk/non-risk for the reading disability of Chinese characters. We applied recently developed 2D SFS-based statistics to SNP data of East Asian populations to examine whether there is any sign of selective sweep. While neutrality was not rejected for most SNPs, significant signs of selection were detected for two linkage disequilibrium (LD) regions containing the reported SNPs of GNPTAB and DCDC2. Furthermore, we searched for a selection target site among the SNPs in these LD regions, because a causal site is not necessarily a reported SNP but could instead be a tightly linked site. In both LD regions, we found candidate target sites, which may have an effect on expression regulation and have been selected, although which genes these SNPs affect remains unknown. Because most people were not engaged in reading until recently, it is unlikely that there has been selective pressure on reading ability itself. Consistent with this, our results suggest a possibility of genetic hitchhiking, whereby alleles of the reported SNPs may have increased in frequency together with the selected target, which could have functions for other genes and traits apart from reading ability.
    Electronic ISSN: 2073-4425
    Topics: Biology
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