Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology

老年性骨粗鬆症マウスモデル, SAMP6マウス, の骨での副甲状腺ホルモンによって誘発されたc-fos遺伝子の発現に関する研究

京都大学0048新制・課程博士博士(医学)甲第7948号医博第2143号新制||医||719(附属図書館)UT51-99-M253京都大学大学院医学研究科外科系専攻(主査)教授 鍋島 陽一, 教授 芹川 忠夫, 教授 中村 孝志学位規則第4条第1項該当Doctor of Medical ScienceKyoto UniversityDA

The Relevance of the Renin-Angiotensin System in the Development of Drugs to Combat Preeclampsia

Preeclampsia is a hypertensive disorder that occurs during pregnancy. It has an unknown etiology and affects approximately 5–8% of pregnancies worldwide. The pathophysiology of preeclampsia is not yet known, and preeclampsia has been called “a disease of theories.” The central symptom of preeclampsia is hypertension. However, the etiology of the hypertension is unknown. In this review, we analyze the molecular mechanisms of preeclampsia with a particular focus on the pathogenesis of the hypertension in preeclampsia and its association with the renin-angiotensin system. In addition, we propose potential alternative strategies to target the renin-angiotensin system, which is enhanced during pregnancy

A Case of Pneumothorax Complicated by Multiple Large Pulmonary Nodules Due to Mycobacterium Kansasii Infection

We report a rare case of pulmonary infection with Mycobacterium kansasii complicated by pneumothorax and multiple large nodules in both lungs. A 68-year-old man presented with sudden right chest pain and dyspnea. He was diagnosed with pneumothorax on the right side and immediately treated by insertion of a chest tube and drainage. After admission, the pneumothorax was cured, but a high fever continued. A chest x-ray and computed tomography scan showed multiple large nodules with and without cavities in both lungs. We suspected malignant disease, inflammatory granulomatosis, or pneumomycosis and subsequently performed bronchofiberscopy. The results of a transbronchial lung biopsy indicated caceous necrosis surrounded by epithelioid cells, without forming distinct granulomas on histology, and the results of acid-fast bacilli smear tests were positive. Mycobacterium could not be detected by polymerase chain reaction. Because the patient\u27s condition was poor, we started him on anti-Mycobacterium therapy: rifampin, isoniazid, and ethambutol. His condition subsequently improved. Bacterial culture confirmed the presence of M. kansasii, so the antibiotic therapy was continued. The patient\u27s temperature decreased to below 37°C, and the nodules in his lungs reduced in size. In this atypical case of M. kansasii infection, the patient presented with severe symptoms. Bronchofiberscopy enabled prompt diagnosis and early treatment

Annotated list of subtidal crabs in the Shikatani Collection made at Nakagusuku Bay, Okinawa Island, the Ryukyu Islands, Japan

1985–1987年,沖縄島中城湾の知念漁港および当添漁港において,漁業者が設置した刺し網にかかったカニ類を収集した「鹿谷コレクション」について,ケブカガニ科以外の全種を同定し,写真付きリストにまとめた.カラッパ属Calappa(カラッパ科)8種についてはすでにTakeda & Shikatani (1990)によってまとめられ,また,イボテガニ属Actumnus(ケブカガニ科)の2新種についてはTakeda & Komatsu(2017)により記載されている.本報告では,既報のこれら10種を除いて,23科87種を認めた.そのうち,コブヒメカイカムリ(新称)Epigodromia rugosa McLay,1993(カイカムリ科),ミナミジュウイチトゲコブシガニ(新称)Arcania brevifrons Chen, 1989およびミナミコブシガニ(新称)Soceulia alainia Galil, 2006(以上2種はともにコブシガニ科),ミナミツノガニ(新称)Hyastenus elatus Griffin & Tranter, 1986(モガニ科),ミナミノコギリガニ(新称)Schizophrys dahlak Griffin & Tranter, 1986(ケアシガニ科),Portunus (Xiphonectes) aff. spiniferus Stephenson & Rees, 1967(ワタリガニ科)の6種が日本新記録種であり,種名が確定した5種に新たな和名を提唱した.近年,刺し網漁を行う漁業者が減少し,また度重なる沿岸環境の改変により,中城湾においてカニ類等を同様な方法で採集することは難しい状況であることからも,本コレクションは非常に重要な資料である.One of the authors (NS) made extensive collections of shallow water brachyurans (= crabs) of Nakagusuku Bay, southeastern Okinawa Island, from gill net at Chinen and Tozoe fishery ports between 1985 and 1987. Takeda & Shikatani (1990) already reported seven known and one new species of the genus Calappa (Calappidae), and recently Takeda & Komatsu (2017) described two new Actumnus species (Pilumnidae) from this collection. However, most of the specimens collected have still not been reported on. The present report enumerates the brachyuran species other than some remaining specimens of the family Pilumnidae, with photographs and taxonomic comments. Of the recorded species, Epigodromia rugosa McLay, 1993 (Dromiidae), Arcania brevifrons Chen, 1989 (Leucosiidae), Soceulia alainia Galil, 2006 (Leucosiidae), Hyastenus elatus Griffin & Tranter, 1986 (Epialtidae), Schizophrys dahlak Griffin & Tranter, 1986 (Majidae) and Portunus (Xiphonectes) aff. spiniferus Stephenson & Rees, 1967 (Portunidae) are new to Japanese waters