Belo J A, Leyns L, Yamada G, De Robertis E M
Howard Hughes Medical Institute, Department of Biological Chemistry, University of California, Los Angeles, CA 90095-1662, USA.
Mech Dev. 1998 Mar;72(1-2):15-25. doi: 10.1016/s0925-4773(97)00204-9.
Gsc-1 expression marks cells with Spemann organizer, or axis-inducing, activity in the vertebrate gastrula. Gsc-1 knockouts, however, did not display phenotypes related to the early phase of expression. In this paper, additional phenotypes for the Gsc-1 mouse mutant are presented. Examination of the base of the cranium in the dorsal view revealed fusions and deletions in the midline of the prechordal chondrocranium. These defects were correlated with the sites of expression of Gsc-1 in the prechordal plate/foregut endoderm in the day 7.5/8.5 embryo. Gsc-1 expression in proximal limb buds was correlated with malformations of the shoulder and hip articulations. In addition, ribs in the seventh cervical vertebra were observed with low penetrance. The role of Gsc-1 during gastrulation and axial development is discussed in relation to possible compensatory interactions with other genes such as HNF-3beta and the recently identified Gsc-2 and Gsc-3 genes.
Gsc-1的表达标志着脊椎动物原肠胚中具有斯佩曼组织者或轴诱导活性的细胞。然而，Gsc-1基因敲除小鼠并未表现出与早期表达阶段相关的表型。本文展示了Gsc-1小鼠突变体的其他表型。从背侧观察颅骨基部发现，脊索前软骨颅中线存在融合和缺失。这些缺陷与7.5/8.5天胚胎中脊索前板/前肠内胚层中Gsc-1的表达位点相关。近端肢芽中Gsc-1的表达与肩和髋关节的畸形相关。此外，观察到第七颈椎的肋骨出现频率较低。本文结合与其他基因（如HNF-3β以及最近鉴定出的Gsc-2和Gsc-3基因）可能存在的补偿性相互作用，讨论了Gsc-1在原肠胚形成和轴向发育过程中的作用。
