抄録
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.
| 元の言語 | English |
|---|---|
| ホスト出版物のタイトル | Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology |
| 出版者 | Springer Japan |
| ページ | 201-209 |
| ページ数 | 9 |
| ISBN（電子版） | 9784431546283 |
| ISBN（印刷物） | 9784431546276 |
| DOI | |
| 出版物ステータス | Published - 2016 1 1 |
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ASJC Scopus subject areas
- Medicine(all)
- Biochemistry, Genetics and Molecular Biology(all)
これを引用
A history and interaction of outflow progenitor cells implicated in “takao syndrome”. / Yamagishi, Hiroyuki; Kodo, Kazuki; Maeda, Jun; Uchida, Keiko; Tsuchihashi, Takatoshi; Shibata, Akimichi; Ishizaki, Reina; Yamagishi, Chihiro; Srivastava, Deepak.
Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology. Springer Japan, 2016. p. 201-209.研究成果: Chapter
}
TY - CHAP
T1 - A history and interaction of outflow progenitor cells implicated in “takao syndrome”
AU - Yamagishi, Hiroyuki
AU - Kodo, Kazuki
AU - Maeda, Jun
AU - Uchida, Keiko
AU - Tsuchihashi, Takatoshi
AU - Shibata, Akimichi
AU - Ishizaki, Reina
AU - Yamagishi, Chihiro
AU - Srivastava, Deepak
PY - 2016/1/1
Y1 - 2016/1/1
N2 - 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.
AB - 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.
KW - 22q11.2 deletion syndrome
KW - Congenital heart disease
KW - GATA6
KW - Neural crest
KW - Second heart field
UR - http://www.scopus.com/inward/record.url?scp=85006701190&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85006701190&partnerID=8YFLogxK
U2 - 10.1007/978-4-431-54628-3_26
DO - 10.1007/978-4-431-54628-3_26
M3 - Chapter
AN - SCOPUS:85006701190
SN - 9784431546276
SP - 201
EP - 209
BT - Etiology and Morphogenesis of Congenital Heart Disease: From Gene Function and Cellular Interaction to Morphology
PB - Springer Japan
ER -