Zhao Q, Behringer R R, de Crombrugghe B
Department of Molecular Genetics, University of Texas, Houston 77030, USA.
Nat Genet. 1996 Jul;13(3):275-83. doi: 10.1038/ng0796-275.
The paired-class homeobox-containing gene, Cart1, is expressed in forebrain mesenchyme, branchial arches, limb buds and cartilages during embryogenesis. Here, we show that Cart1-homozygous mutant mice are born alive with acrania and meroanencephaly but die soon after birth-a phenotype that strikingly resembles a corresponding human syndrome caused by a neural tube closure defect. Developmental studies suggest that Cart1 is required for forebrain mesenchyme survival and that its absence disrupts cranial neural tube morphogenesis by blocking the initiation of closure in the midbrain region that ultimately leads to the generation of lethal craniofacial defects. Prenatal treatment of Cart1 homozygous mutants with folic acid suppresses the development of the acrania/meroanencephaly phenotype.
配对类含同源框基因Cart1在胚胎发育过程中在前脑间充质、鳃弓、肢芽和软骨中表达。在此，我们表明Cart1纯合突变小鼠出生时患有无脑畸形和部分无脑畸形，但出生后不久即死亡——这种表型与由神经管闭合缺陷引起的相应人类综合征极为相似。发育研究表明，Cart1是前脑间充质存活所必需的，其缺失通过阻断中脑区域闭合的起始而破坏颅神经管形态发生，最终导致致命的颅面缺陷。用叶酸对Cart1纯合突变体进行产前治疗可抑制无脑畸形/部分无脑畸形表型的发展。
