Farrell M J, Stadt H, Wallis K T, Scambler P, Hixon R L, Wolfe R, Leatherbury L, Kirby M L
Developmental Biology Program, Institute of Molecular Medicine, Medical College of Georgia, Augusta, 30912-2640, USA.
Circ Res. 1999 Feb 5;84(2):127-35. doi: 10.1161/01.res.84.2.127.
DiGeorge syndrome (DGS) is a congenital disease characterized by defects in organs and tissues that depend on contributions by cell populations derived from neural crest for proper development. A number of candidate genes that lie within the q11 region of chromosome 22 commonly deleted in DGS patients have been identified. Orthologues of the DGS candidate gene HIRA are expressed in the neural crest and in neural crest-derived tissues in both chick and mouse embryos. By exposing a portion of the premigratory chick neural crest to phosphorothioate end-protected antisense oligonucleotides, ex ovo, followed by orthotopic backtransplantation to the untreated embryos, we have shown that the functional attenuation of cHIRA in the chick cardiac neural crest results in a significantly increased incidence of persistent truncus arteriosus, a phenotypic change characteristic of DGS, but does not affect the repatterning aortic arch arteries, the ventricular function, or the alignment of the outflow tract.
迪乔治综合征（DGS）是一种先天性疾病，其特征是依赖神经嵴来源的细胞群体正常发育的器官和组织存在缺陷。已鉴定出一些位于22号染色体q11区域内的候选基因，这些基因在DGS患者中通常缺失。DGS候选基因HIRA的直系同源基因在鸡和小鼠胚胎的神经嵴以及神经嵴衍生组织中表达。通过在体外将一部分迁移前的鸡神经嵴暴露于硫代磷酸酯末端保护的反义寡核苷酸，然后原位回植到未处理的胚胎中，我们发现鸡心脏神经嵴中cHIRA的功能减弱会导致永存动脉干的发生率显著增加，这是DGS的一种表型变化特征，但不影响主动脉弓动脉的重新模式化、心室功能或流出道的排列。
