Porter F D, Drago J, Xu Y, Cheema S S, Wassif C, Huang S P, Lee E, Grinberg A, Massalas J S, Bodine D, Alt F, Westphal H
Heritable Disorders Branch, National Institutes of Health, Bethesda, MD 20892, USA.
Development. 1997 Aug;124(15):2935-44. doi: 10.1242/dev.124.15.2935.
We investigated the function of Lhx2, a LIM homeobox gene expressed in developing B-cells, forebrain and neural retina, by analyzing embryos deficient in functional Lhx2 protein. Lhx2 mutant embryos are anophthalmic, have malformations of the cerebral cortex, and die in utero due to severe anemia. In Lhx2-/- embryos specification of the optic vesicle occurs; however, development of the eye arrests prior to formation of an optic cup. Deficient cellular proliferation in the forebrain results in hypoplasia of the neocortex and aplasia of the hippocampal anlagen. In addition to the central nervous system malformations, a cell non-autonomous defect of definitive erythropoiesis causes severe anemia in Lhx2-/- embryos. Thus Lhx2 is necessary for normal development of the eye, cerebral cortex, and efficient definitive erythropoiesis.
我们通过分析缺乏功能性Lhx2蛋白的胚胎，研究了Lhx2（一种在发育中的B细胞、前脑和神经视网膜中表达的LIM同源框基因）的功能。Lhx2突变体胚胎无眼，有大脑皮质畸形，并因严重贫血死于子宫内。在Lhx2基因敲除胚胎中，视泡的特化发生；然而，眼睛的发育在视杯形成之前就停止了。前脑细胞增殖不足导致新皮质发育不全和海马原基发育不全。除了中枢神经系统畸形外，决定性红细胞生成的细胞非自主性缺陷导致Lhx2基因敲除胚胎出现严重贫血。因此，Lhx2对于眼睛、大脑皮质的正常发育以及有效的决定性红细胞生成是必需的。
