Analysis of genetic mosaicism using X-inactivation visualization mouse resource and development of model mouse for X-linked genetic disease

2017 Fiscal Year Final Research Report

• Project/Area Number: 26250025
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Laboratory animal science
• Research Institution: Institute of Physical and Chemical Research
• Principal Investigator: Abe Kuniya 国立研究開発法人理化学研究所, バイオリソースセンター, チームリーダー (40240915)
• Co-Investigator(Kenkyū-buntansha): 横田 秀夫 国立研究開発法人理化学研究所, 光量子工学研究領域, チームリーダー (00261206) ; 久保田 健夫 山梨大学, 総合研究部, 教授 (70293511)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: Ｘ染色体不活性化 / 遺伝モザイシズム / イメージング / RNA-FISH / Xist

Outline of Final Research Achievements

In mammalian females one of two X chromosomes is inactivated for gene dosage compensation, and this phenomenon is called X chromosome inactivation or XCI. Timing of X chromosome reactivation and inactivation during embryonic development remains elusive. In this study, we developed 3D whole-mount RNA-FISH method as well as Xvis mouse strain, in which XCI status can be visualized, and applied these techniques to XCI studies. Using these novel method and resources, we succeeded to determine timing of XCI reversal and initiation of random XCI during peri-implantation development for the first time. Also, by conducting image analyses of tissues/organs of Xvis mice, we could clearly demonstrate the presence of genetic mosaicism in mammalian females.

Free Research Field

発生遺伝学