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Identification of shared and unique gene families associated with oral clefts

International Journal of Oral Science 2017年第2期9卷 104-109页

作者： noriko funato Masataka Nakamura Department of Signal Gene Regulation Research Center for Medical and Dental SciencesTokyo Medical and Dental University1-5-45 YushimaBunkyo-kuTokyoJapan

Oral clefts, the most frequent congenital birth defects in humans, are multifactorial disorders caused by genetic and environmental factors. Epidemiological studies point to different etiologies underlying the oral cleft phenotypes, cleft lip(CL),CL and/or palate(CL/P) and cleft palate(CP). More than 350 genes have syndromic and/or nonsyndromic oral cleft associations in humans. Although genes related to genetic disorders associated with oral cleft phenotypes are known, a gap between detecting these associations and interpretation of their biological importance has remained. Here, using a gene ontology analysis approach, we grouped these candidate genes on the basis of different functional categories to gain insight into the genetic etiology of oral clefts. We identified different genetic profiles and found correlations between the functions of gene products and oral cleft phenotypes. Our results indicate inherent differences in the genetic etiologies that underlie oral cleft phenotypes and support epidemiological evidence that genes associated with CL/P are both developmentally and genetically different from CP only, incomplete CP, and submucous CP. The epidemiological differences among cleft phenotypes may reflect differences in the underlying genetic causes. Understanding the different causative etiologies of oral clefts is important as it may lead to improvements in diagnosis, counseling, and prevention.

关键词： cleft palate epidemiology gene ontology mutations soft palate syndrome

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Molecular basis of cleft palates in mice

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World Journal of Biological Chemistry 2015年第3期6卷 121-138页

作者： noriko funato Masataka Nakamura Hiromi Yanagisawa Research Center for Medical and Dental Sciences Tokyo Medical and Dental University Department of Molecular Biology University of Texas Southwestern Medical Center Life Science Center of Tsukuba Advanced Research Alliance University of Tsukuba

Cleft palate, including complete or incomplete cleft palates, soft palate clefts, and submucosal cleft palates, is the most frequent congenital craniofacial anomaly in humans. Multifactorial conditions, including genetic and environmental factors, induce the formation of cleft palates. The process of palatogenesis is temporospatially regulated by transcription factors, growth factors, extracellular matrix proteins, and membranous molecules; a single ablation of these molecules can result in a cleft palate in vivo. Studies on knockout mice were reviewed in order to identify genetic errors that lead to cleft palates. In this review, we systematically describe these mutant mice and discuss the molecular mechanisms of palatogenesis.

关键词： Tbx1 Submucosal cleft palate Incomplete cleft palate Palatal shelf Palatogenesis Knockout mice

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Nature:科学家鉴别出调节机体睡眠的两个关键基因

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现代生物医学进展 2017年第6期17卷 I0002-I0002页

作者： Hiromasa funato, Chika Miyoshi, Tomoyuki Fujiyama, Takeshi Kanda, Makito Sato, Zhiqiang Wang, Jing Ma, Aya Ikkyu, Miyo Kakizaki, noriko Hotta-Hirashima, Satomi Kanno, Haruna Komiya, Fuyuki Asano, Takato Honda, Staci J. Kim, Kanako Harano, Hiroki Muramoto, Toshiya Yonezawa, Shinichi Miyazaki, Linzi Connor, Yu Hayashi, Qinghua Liu, Joseph S. Takahashi Masashi Yanagisawa Hiromasa funato Makito Sato Masashi Yanagisawa Shin Nakane, Jun Tomita Kazuhiko Kume Seiya Mizuno, Fumihiro Sugiyama Satoru Takahashi Vivek Kumar Joseph S. Takahashi Vivek Kumar Ikuo Miura, Tomohiro Suzuki Shigeharu Wakana Atsushi Watanabe Manabu Abe Kenji Sakimura Yu Hayashi Qinghua Liu Joseph S. Takahashi Masashi Yanagisawa Masashi Yanagisawa International Institute for Integrative Sleep Medicine (WPI-IIIS) University of Tsukuba Tsukuba Ibaraki 305-8575 Japan Department of Anatomy Faculty of Medicine Toho University Ota-ku Tokyo 143-8540 Japan Department of Molecular Genetics University of Texas Southwestern Medical Center Dallas Texas 75390 USA Department of Neuropharmacology Graduate School of Pharmaceutical Sciences Nagoya City University Nagoya Aichi 467-8603 Japan Laboratory Animal Resource Center University of Tsukuba Tsukuba Ibaraki 305-8575 Japan Department of Neuroscience University of Texas Southwestern Medical Center Dallas Texas 75390 USA The Jackson Laboratory Bar Harbor Maine 04609 USA Technology and Development Team for Mouse Phenotype Analysis RIKEN Bioresource Center Tsukuba Ibaraki 305-0074 Japan Laboratory of Research Advancement National Center for Geriatrics and Gerontology Obu Aichi 474-8511 Japan Department of Cellular Neurobiology Brain Research Institute Niigata University Niigata 951-8585 Japan PRESTO Japan Science and Technology Agency Kawaguchi Saitama 332-0012 Japan Department of Biochemistry University of Texas Southwestern Medical Center Dallas Texas 75390 USA Howard Hughes Medical Institute University of Texas Southwestern Medical Center Dallas Texas 75390 USA Life Science Center Tsukuba Advanced Research Alliance University of Tsukuba Tsukuba Ibaraki 305-8575 Japan

近日，刊登在国际杂志Nature上的一项研究报告中，来自西南医学中心等机构的研究人员通过研究鉴别出了两个关键的核心基因，这两个基因能够帮助调节机体深度睡眠和做梦的水平，相关研究或为阐明相关的基因控制睡眠的网络提供新的线索。... 详细信息

近日，刊登在国际杂志Nature上的一项研究报告中，来自西南医学中心等机构的研究人员通过研究鉴别出了两个关键的核心基因，这两个基因能够帮助调节机体深度睡眠和做梦的水平，相关研究或为阐明相关的基因控制睡眠的网络提供新的线索。此前研究者通过对小鼠进行研究发现了能够控制机体快速眼动睡眠的基因，同时该基因还能够诱导深度睡眠。而第二个基因能够控制机体对快速眼动睡眠的需求量，相关研究为科学家们提供了一个关键的切入点来帮助解释睡眠工作的机制，同时研究者还鉴别出了治疗睡眠障碍的潜在靶点。

关键词：睡眠障碍核心基因科学家机体鉴别基因控制研究人员需求量

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