Maschhoff K L, Baldwin H S
Joseph Stoke's Research Institute, Children's Hospital of Philadelphia, PA 19104-4318, USA.
Am J Med Genet. 2000 Winter;97(4):280-8. doi: 10.1002/1096-8628(200024)97:4<280::aid-ajmg1278>3.0.co;2-n.
Normal septation of the cardiac outflow tract requires migration of neural crest cells from the posterior rhombencephalon to the branchial arches and developing conotruncal endocardial cushions. Proper migration of these cells is mediated by a variety of molecular cues. Adhesion molecules, such as integrins, are involved in the interaction of neural crest cells with the extracellular matrix, while cadherins allow neural crest cells to interact with each other during their migration. Pax3 appears to be important for proliferation of neural crest precursors, and connexin-43-mediated gap junction communication influences the rate of migration. Endothelin and its receptors are required for normal postmigratory differentiation. Platelet-derived growth factor and retinoic acid have roles in neural crest migration and differentiation as well. Finally, the similarity between the cardiovascular malformations seen in the DiGeorge and 22q11 deletion syndromes and animal models of neural crest deficiency has led to the examination of the role of genes located near or within the DiGeorge critical region in neural crest migration.
心脏流出道的正常分隔需要神经嵴细胞从后脑后部迁移至鳃弓和正在发育的圆锥动脉干心内膜垫。这些细胞的正常迁移由多种分子信号介导。黏附分子,如整合素,参与神经嵴细胞与细胞外基质的相互作用,而钙黏蛋白则使神经嵴细胞在迁移过程中能够相互作用。Pax3似乎对神经嵴前体细胞的增殖很重要,连接蛋白43介导的缝隙连接通讯会影响迁移速率。内皮素及其受体是迁移后正常分化所必需的。血小板衍生生长因子和视黄酸在神经嵴迁移和分化中也发挥作用。最后,DiGeorge综合征和22q11缺失综合征中出现的心血管畸形与神经嵴缺陷动物模型之间的相似性,促使人们研究位于DiGeorge关键区域附近或内部的基因在神经嵴迁移中的作用。