Gurrieri Fiorella, Kjaer Klaus W, Sangiorgi Eugenio, Neri Giovanni
Institute of Medical Genetics, Catholic University of Rome, Largo F. Vito 1, 00168 Rome, Italy.
Am J Med Genet. 2002 Dec 30;115(4):231-44. doi: 10.1002/ajmg.10981.
In this review we describe the developmental mechanisms involved in the making of a limb, by focusing on the nature and types of interactions of the molecules that play a part in the regulation of limb patterning and characterizing clinical conditions that are known to result from the abnormal function of these molecules. The latter subject is divided into sections dealing with syndromal and nonsyndromal deficiencies, polydactylies, and brachydactylies. Conditions caused by mutations in homeobox genes and fibroblast growth factors and their receptor genes are listed separately. Since the process of limb development has been conserved for more than 300 millions years, with all the necessary adaptive modifications occurring throughout evolution, we also take into consideration the evolutionary aspects of limb development in terms of genetic repertoire, molecular pathways, and morphogenetic events.
在本综述中,我们通过关注参与肢体模式调控的分子相互作用的性质和类型,以及已知由这些分子功能异常导致的临床病症,来描述肢体形成过程中涉及的发育机制。后一主题分为处理综合征性和非综合征性缺陷、多指畸形和短指畸形的章节。由同源框基因、成纤维细胞生长因子及其受体基因突变引起的病症单独列出。由于肢体发育过程在超过3亿年的时间里一直得以保留,在整个进化过程中发生了所有必要的适应性改变,我们还从基因库、分子途径和形态发生事件的角度考虑肢体发育的进化方面。