A history and interaction of outflow progenitor cells implicated in “takao syndrome”

Hiroyuki Yamagishi, Kazuki Kodo, Jun Maeda, Keiko Uchida, Takatoshi Tsuchihashi, Akimichi Shibata, Reina Ishizaki, Chihiro Yamagishi, Deepak Srivastava

研究成果: Chapter

3 被引用数 (Scopus)


Progenitor cells, derived from the cardiac neural crest (CNC) and the second heart field (SHF), play key roles in development of the cardiac outflow tract (OFT), and their interaction is essential for establishment of the separate pulmonary and systemic circulation in vertebrates. 22q11.2 deletion syndrome (22q11DS) or Takao syndrome is the most common human chromosomal deletion syndrome that is highly associated with OFT defects. Historically, based on the observations in animal models, OFT defects implicated in the 22q11/Takao syndrome are believed to result primarily from abnormal development of CNC that populate into the conotruncal region of the heart. In the twenty-first century, elegant efforts to model 22q11/Takao syndrome in mice succeeded in the identification of T-box-containing transcription factor, Tbx1, as an etiology of OFT defects in this syndrome. Subsequent investigations of the Tbx1 expression pattern revealed that Tbx1 was surprisingly not detectable in CNC but was expressed in the SHF and provided a new concept of molecular and cellular basis for OFT defects associated with 22q11/Takao syndrome. More recently, it was reported that mutations in the gene encoding the transcription factor GATA6 caused CHD characteristic of OFT defects. Genes encoding the neurovascular guiding molecule semaphorin 3C (SEMA3C) and its receptor plexin A2 (PLXNA2) appear to be regulated directly by GATA6. Elucidation of molecular mechanism involving GATA6, SEMA3C, PLXNA2, and TBX1 in the interaction between the CNC and the SHF would provide new insights into the OFT development.

ホスト出版物のタイトルEtiology and Morphogenesis of Congenital Heart Disease
ホスト出版物のサブタイトルFrom Gene Function and Cellular Interaction to Morphology
出版社Springer Japan
出版ステータスPublished - 2016 1月 1

ASJC Scopus subject areas

  • 医学(全般)
  • 生化学、遺伝学、分子生物学(全般)


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