HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation
HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation
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DOI：
10.1161/01.res.84.2.127
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发表时间：
1999-02-05
影响因子：
20.1
通讯作者：
Kirby, ML
中科院分区：
文献类型：
--
作者：
Farrell, MJ;Stadt, H;Kirby, ML
DiGeorge综合征(DGS)是一种先天性疾病，其特征是器官和组织的缺陷依赖于神经脊来源的细胞群体的贡献才能正常发育。DGS患者中常见的位于22号染色体Q11区域的一些候选基因已被发现缺失。DGS候选基因Hira的同源基因在鸡和小鼠胚胎的神经脊和神经脊来源的组织中都有表达。通过将一部分迁徙前的雏鸡神经脊暴露于硫代末端保护的反义寡核苷酸，然后原位反向移植到未处理的胚胎中，我们已经表明Chira在雏鸡心脏神经脊中的功能减弱导致永久性动脉干的发生率显著增加，这是DGS的表型变化特征，但不影响重构的主动脉弓动脉、心功能或流出道的排列。
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.