Identification of a novel uterine leiomyoma GWAS locus in a Japanese population

Uterine leiomyoma is one of the most common gynaecologic benign tumours, but its genetic basis remains largely unknown. Six previous GWAS identified 33 genetic factors in total. Here, we performed a two-staged GWAS using 13,746 cases and 70,316 controls from the Japanese population, followed by a replication analysis using 3,483 cases and 4,795 controls. The analysis identified 9 significant loci, including a novel locus on 12q23.2 (rs17033114, P = 6.12 × 10−25 with an OR of 1.177 (1.141-1.213), LINC00485). Subgroup analysis indicated that 5 loci (3q26.2, 5p15.33, 10q24.33, 11p15.5, 13q14.11) exhibited a statistically significant effect among multiple leiomyomas, and 2 loci (3q26.2, 10q24.33) exhibited a significant effect among submucous leiomyomas. Pleiotropic analysis indicated that all 9 loci were associated with at least one proliferative disease, suggesting the role of these loci in the common neoplastic pathway. Furthermore, the risk T allele of rs2251795 (3q26.2) was associated with longer telomere length in both normal and tumour tissues. Our findings elucidated the significance of genetic factors in the pathogenesis of leiomyoma

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Role of Games in Education of Mathematics : Focused on Example of Games in Elementary School Lower Grades

算数・数学教育における「楽しい授業」の発見は，1970年代，遠山啓のキャラメルの空き箱を使った「数あてゲーム」による一次方程式や連立方程式（箱の代数）の授業が端緒である。これ以降，次々と「楽しい授業」のための「ゲームの算数・数学」の授業が開発されていった。当初，ゲームの意義は，「授業＝儀式」という儀式的授業観を打ち破り，子どもたちが「自分の発意や工夫をつくり出す自由」の体験として位置づけられ，その役割は，主に計算スキルの習熟をたやすくすることにおかれていたが，ゲームの蓄積とともに，「規則・法則の発見」，「重要な概念の理解」，「学習内容の定着化」などの役割も明らかになっていった。　本稿では，比較的小学校低学年の子どもたちに歓迎されるという「学習内容の定着化をはかるためのゲーム」と「重要な概念をうえつけさせるためのゲーム」のタイプを中心に，認知心理学における熟達化研究を参照しながらゲームの役割を検討し，位置づけ直した。その結果,低学年の子どもたちにとっても,「定型的熟達化」より，概念的な理解を基盤とした「適応的熟達化」を指向したゲームの教材化が望ましいとの示唆を得た。なお，上記３タイプのほかに，「ゲームそのものの数理を対象とするゲーム」の存在も指摘した