Karsenty Gerard
Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Annu Rev Genomics Hum Genet. 2008;9:183-96. doi: 10.1146/annurev.genom.9.081307.164437.
The skeleton contains three specific cell types: chondrocytes in cartilage and osteoblasts and osteoclasts in bone. Our understanding of the transcriptional mechanisms that lead to cell differentiation along these three lineages has increased considerably in the past ten years. In the case of chondrocytes and osteoblasts advances have been made possible largely through the molecular elucidation of human skeletal dysplasias. This review discusses the key transcription factors that regulate skeletogenesis and highlights their function, mode of action, and regulation by other factors, with a special emphasis on how human genetics has contributed to this knowledge.
软骨中的软骨细胞以及骨中的成骨细胞和破骨细胞。在过去十年中,我们对导致这三种细胞谱系细胞分化的转录机制的理解有了显著增加。就软骨细胞和成骨细胞而言,很大程度上通过对人类骨骼发育异常的分子阐释取得了进展。本综述讨论了调节骨骼生成的关键转录因子,并强调了它们的功能、作用方式以及受其他因素的调控,特别强调了人类遗传学对这一知识的贡献。