Ancestral Y-linked genes were maintained by translocation to the X and Y chromosomes fused to an autosomal pair in the Okinawa spiny rat Tokudaia muenninki

Two species of the genus Tokudaia lack the Y chromosome and SRY, but several Y-linked genes have been rescued by translocation or transposition to other chromosomes. Tokudaia muenninki is the only species in the genus that maintains the Y owing to sex chromosome-autosome fusions. According to previous studies, many SRY pseudocopies and other Y-linked genes have evolved by excess duplication in this species. Using RNA-seq and RT-PCR, we found that ZFY, EIF2S3Y, TSPY, UTY, DDX3Y, USP9Y, and RBMY, but not UBA1Y, had high deduced amino acid sequence similarity and similar expression patterns with other rodents, suggesting that these genes were functional. Based on FISH and quantitative real-time PCR, all of the genes except for UTY and DDX3Y were amplified on the X and Y chromosomes with approximately 10-66 copies in the male genome. In a comparative analysis of the 372.4-kb BAC sequence and Y-linked gene transcripts from T. muenninki with the mouse Y genomic sequence, we observed that multiple-copy genes in the ancestral Y genome were nonfunctional, indicating that the gene functions were assumed by amplified copies. We also found a LTR sequence at the distal end of a SRY duplication unit, suggesting that unequal sister chromatid exchange mediated by retrotransposable elements could have been involved in SRY amplification. Our results revealed that the Y-linked genes were rescued from degeneration via translocations to other sex chromosomal regions and amplification events in T. muenninki

Initiation of recombination suppression and PAR formation during the early stages of neo-sex chromosome differentiation in the Okinawa spiny rat, Tokudaia muenninki

Background: Sex chromosomes of extant eutherian species are too ancient to reveal the process that initiated sex-chromosome differentiation. By contrast, the neo-sex chromosomes generated by sex-autosome fusions of recent origin in Tokudaia muenninki are expected to be evolutionarily ‘young’, and therefore provide a good model in which to elucidate the early phases of eutherian sex chromosome evolution. Here we describe the genomic evolution of T. muenninki in neo-sex chromosome differentiation. Results: FISH mapping of a T. muenninki male, using 50 BAC clones as probes, revealed no chromosomal rearrangements between the neo-sex chromosomes. Substitution-direction analysis disclosed that sequence evolution toward GC-richness, which positively correlates with recombination activity, occurred in the peritelomeric regions, but not middle regions of the neo-sex chromosomes. In contrast, the sequence evolution toward AT-richness was observed in those pericentromeric regions. Furthermore, we showed genetic differentiation between the pericentromeric regions as well as an accelerated rate of evolution in the neo-Y region through the detection of male-specific substitutions by gene sequencing in multiple males and females, and each neo-sex–derived BAC sequencing. Conclusions: Our results suggest that recombination has been suppressed in the pericentromeric region of neo-sex chromosomes without chromosome rearrangement, whereas high levels of recombination activity is limited in the peritelomeric region of almost undifferentiated neo-sex chromosomes. We conclude that PAR might have been formed on the peritelomeric region of sex chromosomes as an independent event from spread of recombination suppression during the early stages of sex chromosome differentiation

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

Background: Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with microhomology-mediated break-induced replication (MMBIR) has been recently proposed as a possible mechanism giving rise to interstitial copy number gains and distal isoUPD, although only a few cases providing supportive evidence in human congenital diseases with MCA have been documented. Case presentation: Here, we report on the chromosomal microarray (CMA)-based identification of the first known case with concurrent interstitial duplication at 1q42.12-q42.2 and triplication at 1q42.2-q43 followed by isoUPD for the remainder of chromosome 1q (at 1q43-qter). In distal 1q duplication/triplication overlapping with 1q42.12-q43, variable clinical features have been reported, and our 25-year-old patient with MCA/ID presented with some of these frequently described features. Further analyses including the precise mapping of breakpoint junctions within the CGR in a sequence level suggested that the CGR found in association with isoUPD in our case is a triplication with flanking duplications, characterized as a triplication with a particularly long duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) structure. Because microhomology was observed in both junctions between the triplicated region and the flanking duplicated regions, our case provides supportive evidence for recently proposed replication-based mechanisms, such as MMBIR, underlying the formation of CGRs + isoUPD implicated in chromosomal disorders. Conclusions: To the best of our knowledge, this is the first case of CGRs + isoUPD observed in 1q and having DUP-TRP/INV-DUP structure with a long proximal duplication, which supports MMBIR-based model for genomic rearrangements. Molecular cytogenetic analyses using CMA containing single-nucleotide polymorphism probes with further analyses of the breakpoint junctions are recommended in cases suspected of having complex chromosomal abnormalities based on discrepancies between clinical and conventional cytogenetic findings

A survey of problems in the care and support of infants born at very low birth weight

Orientador: Prof. Dr. Clodomiro Unsihuay-VilaCoorientadora: Prof.a Dr. a Thelma Solange P. FernandesDissertação (mestrado) - Universidade Federal do Paraná, Setor de Tecnologia, Programa de Pós-Graduação em Engenharia Elétrica. Defesa : Curitiba, 29/08/2019Inclui referências: p. 127-133Área de concentração: Sistema de energiaResumo: A frota de veículo elétrico (VE) cresce rapidamente no mundo, em 2018 já superou a marca de 5,1 milhões. A inserção de VE nas redes ativas de distribuição significa uma evolução nos sistemas de energia elétrica, mas essa evolução requer avanços no planejamento da operação, de maneira a considerar o aumento da complexidade que esses novos elementos podem causar na rede. Por isso, se faz necessário ferramentas computacionais que permitam analisar os impactos que o VE causa na operação de redes ativas de distribuição, de maneira a auxiliar na definição de estratégias operativas apropriadas e garantir a otimização de todos os recursos energéticos do sistema. Dessa forma, nesta dissertação foi desenvolvido um modelo computacional, formulado como um problema de otimização capaz de determinar a programação diária da operação de redes ativas de distribuição, considerando a inserção do VE na rede. O problema foi abordado através de um Fluxo de Potência Ótimo (FPO) multiperíodo. A intertemporalidade do problema é formulada através da introdução de uma função de acoplamento representada pela energia armazenada pelas baterias do VE. A resolução do FPO foi através do Métodos dos Pontos Interiores versão Primal-Dual. O horizonte de planejamento é de 24 períodos, divididos em horas. Também é considerado a geração distribuída fotovoltaica e um sistema de tarifação horária de energia. O veículo elétrico é incorporado no problema por meio da adição de uma variável de otimização à função objetivo que além de alterar as restrições de balanço de potência também é usada para monitorar a energia armazenada nas baterias. Como resultado, têm-se um FPO multiperíodo que busca, além da minimização dos custos operativos e perdas de transmissão, também a maximização da energia armazenada nas baterias dos veículos elétricos conectados à rede visando a injeção ótima de energia à rede ativa. Nas simulações realizadas, foram utilizados cenários determinísticos de conexão do VE para avaliar seus impactos nas perdas, custos operacionais e perfil de tensão do sistema elétrico. Os resultados de simulações demonstraram que, no cenário de perfil residencial, que possibilitam o carregamento/descarregamento, é perceptível uma melhora no perfil de tensão do sistema. Isso mostra que a apropriada operação dos VEs com possibilidade de injeção de energia à rede podem ser uma boa alternativa para deslocar picos de carga e reduzir custos operacionais da rede ativa de distribuição. Para o perfil comercial, é perceptível uma redução do perfil de tensão para o seu instante de conexão. Entretanto, esse comportamento pode ser complementado através de uma geração fotovoltaica, que apresenta seus picos de geração nos mesmos instantes em que o VE carrega. Para os cenários que consideram uma alta inserção de VE na rede, os impactos no perfil de tensão do sistema são bastante significativos, demonstrando que para que a rede seja capaz de atender uma grande frota de VEs devem ser feitos investimentos na infraestrutura da rede de distribuição. O impacto da inserção do VE à rede pode aumentar em até 40% as perdas do sistema. Os impactos no custo de operação são significativos, podendo aumentar em até 19%, para cenários de alta penetração de VE. Palavras-chave: Planejamento da Operação. Redes Ativas de Distribuição. Veículo Elétrico. Fluxo de Potência Ótimo. Método dos Pontos Interiores versão Primal-Dual. Armazenamento de energia em baterias.Abstract: The electric vehicle (EV) fleet is growing rapidly in the world, by 2018, it has already surpassed the 5.1 million mark. The insertion of EV into active distribution grids means an evolution in power systems, but this evolution requires advances in operation planning in order to consider the increased complexity that these new elements in the grid may cause. Therefore, computational tools are needed to analyze the impacts that EV has on the operation of active distribution networks, in order to help define appropriate operating strategies and ensuring the optimization of all energy resources in the system. Thus, in this dissertation a computational model was developed, formulated as an optimization problem capable of determining the daily programming of the active distribution networks operation, considering the insertion of the EV in the network. The problem was addressed through a Multi-Period Optimal Power Flow (OPF). The intertemporality of the problem is formulated by introducing a coupling function represented by the energy stored by LV batteries. The resolution of the OPF was through the Primal-Dual Interior Point Method. The planning horizon is 24 periods, divided into hours, under the influence of photovoltaic generation and an hourly energy hourly charging system. The electric vehicle is incorporated into the problem by adding an optimization variable to the objective function which in addition to changing the power balance restrictions is also used to monitor the energy stored in the batteries. As a result, there is a MultiPeriod OPF that seeks, in addition to minimizing operating costs and transmission losses, also maximizing the energy stored in the batteries of electric vehicles connected to the grid for optimal injection of power to the grid at peak hours. In the simulations performed, deterministic EV connection scenarios were used to assess their impacts on losses, operating costs and voltage profile. Simulation results showed that, in the residential profile scenario, which enables loading / unloading, an improvement in the system voltage profile is noticeable. Showing that appropriate EV operation can be a good alternative for shifting power generation from light load moments of the system to high load moments, optimizing the use of system energy resources, reducing operating costs of active distribution. For the commercial profile, a reduction of the voltage profile is noticeable for its connection time. However, this behavior can be complemented by a photovoltaic generation, which presents its generation peaks at the same time that the EV charges. For scenarios that consider a high insertion of EV in the grid, the impacts on the system voltage profile are quite significant, demonstrating that for the grid to be able to serve a large fleet of EVs, investments in the distribution network infrastructure must be made. The impacts of EV insertion into the network can increase system losses by up to 40%. The impacts on operating costs are significant and may increase by up to 19% for high EV penetration scenarios. Keywords: Operation Planning. Active Distribution Networks. Electric Vehicle. Optimal Power Flow. Primal-Dual Interior Point Method. Energy storage in batteries

‘Politics’ of Site and Display: The Korean Comics Exhibition ‘Flowers that Never Wilt’ at the Angouleme International Comics Festival

This paper reports on the special exhibition of Korean comics ‘Flowers that Never Wilt’ at the 2014 Angouleme International Comics Festival. It also analyzes the ‘politics’ involved in the festival site and the exhibition display. The exhibition, which dealt with the issues of ‘comfort women’, raised disputes among the three involved countries: Korea, Japan and France. This paper tries to carefully examine the cause of these disputes, and to clarify the differences or the gaps in their perspectives towards exhibiting such political issues.本稿は、フランス・アングレーム市で毎年開催されるアングレーム国際ＢＤフェスティバルに出展された韓国漫画の展覧会「枯れない花」展を、現場のレポートを交えて概観するとともに、そこにおいて顕在化した場と展示の〈政治性〉についての考察を行うものである。これによって、日韓仏三国には、〈政治性〉をめぐる解釈に齟齬があること、またここには日韓間の問題だけではなく、ヨーロッパからみた「オリエント」としてのアジアという問題も、影を落としていることが明らかになった。※ 本研究の一部は、平成24年度関西大学在外研究による成果である。※本論文は、2013年度仁愛大学共同研究費およびJSPS 科学研究費・若手研究（B）研究課題番号：24730047 （代表 山中千恵）による研究成果の一部である

Visitor Survey at the Tezuka Osamu Manga Museum : Do Manga Museums Really Promote Regional Development?

本稿は、宝塚市立手塚治虫記念館を取り上げ、館がいかなるコンセプトのもとに設計・運営されているのか、訪れる来館者がその空間をいかに受容しているのかに注目して行った調査結果を考察するものである。地域活性化・地域振興を掲げたマンガ関連文化施設の一例として、その現状を来館者の行動から詳細に繙き、地域振興という言葉が抱える矛盾や、そもそもマンガを博物館などで扱うことの意義や課題が見過ごされてきた点について分析・考察する。This paper questions the purpose of manga museums intended to promote regional development. This has been at rend for more than 20 years in Japan，an d Tezuka Osamu Manga Museum is one of the earliest museums established for such purpose. Through conducting a visitor survey and analyzing the visitor’s movements and attitudes，w e aim to understand what it means to adopt manga in a museum for regional development

Roles of Protease-Activated Receptor-2 in Atherogenesis

Background: The coagulation system is closely linked with vascular inflammation, although the underlying mechanisms are still obscure. Recent studies show that protease-activated receptor (PAR)-2, a major receptor of activated factor X (FXa), are expressed in both vascular cells and leukocytes, suggesting that PAR-2 may contribute to the pathogenesis of inflammatory diseases. Here we investigated the role of PAR-2 in vascular inflammation and atherogenesis. Methods: We generated apolipoprotein E-deficient (ApoE-/-) mice lacking systemic PAR-2 expression (PAR-2-/-ApoE-/-). ApoE-/- mice which lack or express PAR-2 only in bone-marrow (BM) cells were also generated by BM transplantation. Atherosclerotic lesions were investigated after 20 weeks on a western-type diet (WTD) by histological analyses, quantitative RT-PCR, and western blotting. In vitro experiments using BM-derived macrophages were performed to confirm pro-inflammatory roles of PAR-2. The association between plasma FXa level and the severity of coronary atherosclerosis was also examined in humans who underwent coronary intervention. Results: PAR-2-/-ApoE-/- mice showed reduced atherosclerotic lesions in the aortic arch (P<0.05) along with features of stabilized atherosclerotic plaques such as less lipid deposition (P<0.05), collagen loss (P<0.01), macrophage accumulation (P<0.05), and inflammatory molecule expression (P<0.05) compared with ApoE-/- mice. Systemic PAR2 deletion in ApoE-/- mice significantly decreased the expression of inflammatory molecules in the aorta. The results of BM transplantation experiments demonstrated that PAR-2 in hematopoietic cells contributed to atherogenesis in ApoE-/- mice. PAR-2 deletion did not alter metabolic parameters. In vitro experiments demonstrated that FXa or a specific peptide agonist of PAR-2 significantly increased expression of inflammatory molecules and lipid uptake in BM-derived macrophages from wild-type mice compared with those from PAR-2-deficient mice. Activation of NF-κB signaling was involved in PAR-2-associated vascular inflammation and macrophage activation. In humans who underwent coronary intervention, plasma FXa level independently correlated with the severity of coronary atherosclerosis as determined by Gensini score (P<0.05) and plaque volume (P<0.01). Conclusions: PAR-2 signaling activates macrophages and promotes vascular inflammation, increasing atherosclerosis in ApoE-/- mice. This signaling pathway may also participate in atherogenesis in humans

Development of Manga Reading Behavior Scale and Manga Image Scale

With the social perception of manga drastically changing in Japan, studies on manga have proliferated in recent years. However, few of these studies have adopted a psychological approach. This study aimed to develop scales to measure the perception that people have of manga (Manga Image Scale), and how readers actually read manga (Manga Reading Behavior Scale). We conducted a questionnaire survey with 419 visitors to the Kyoto International Manga Museum and analyzed the results using psychometrical methods such as factor analysis. On the basis of the results, we developed three factors (“Soft Power,” “Attractive Media,” and “Educational”) for the Manga Image Scale and two factors (“Pleasure Oriented” and “Manga Capital Oriented”) for the Manga Reading Behavior Scale. Each scale score was relevant with factors such as age and the frequency of manga reading and thus proved valid. While the results suggest that further refinement of the scales is required, they may be helpful in further developing this field of study. 　近年，日本社会におけるマンガに対する認識は変わりつつある。それに応じて，マンガ研究も増えてきたが，心理学的アプローチを用いた研究はほとんど見られない。本研究では人々がマンガに対してどのようなイメージを持ち（マンガイメージ尺度），実際にどのようにマンガを読んでいるのか（マンガ読書行動尺度）を測定する尺度を開発することを目的とする。京都国際マンガミュージアムを訪れた419名にアンケートへの回答を求め，因子分析等心理計量学的な手法を用いて検討を行った。その結果，マンガイメージ尺度では，「ソフトパワー」「魅力的なメディア」「学習効果」の3因子が，マンガ読書行動尺度では「快楽志向」「マンガ資本志向」の2因子が見いだされた。各尺度得点は，年齢やマンガを読んでいる日数等と関連が認められ，尺度の妥当性が示された