Kaartinen V, Voncken J W, Shuler C, Warburton D, Bu D, Heisterkamp N, Groffen J
Department of Pathology, Childrens Hospital of Los Angeles Research Institute, California 90027, USA.
Nat Genet. 1995 Dec;11(4):415-21. doi: 10.1038/ng1295-415.
A broad spectrum of biological activities has been proposed for transforming growth factor-beta 3 (TGF-beta 3). To study TGF-beta 3 function in development, TGF-beta 3 null mutant mice were generated by gene-targeting. Within 20 hours of birth, homozygous TGF-beta 3-/- mice die with unique and consistent phenotypic features including delayed pulmonary development and defective palatogenesis. Unlike other null mutants with cleft palate, TGF-beta 3-/- mice lack other concomitant craniofacial abnormalities. This study demonstrates an essential function for TGF-beta 3 in the normal morphogenesis of palate and lung, and directly implicates this cytokine in mechanisms of epithelial-mesenchymal interaction.
人们提出转化生长因子β3（TGF-β3）具有广泛的生物学活性。为了研究TGF-β3在发育过程中的功能，通过基因靶向技术构建了TGF-β3基因敲除突变小鼠。在出生后20小时内，纯合的TGF-β3 -/-小鼠死亡，具有独特且一致的表型特征，包括肺发育延迟和腭裂形成缺陷。与其他腭裂基因敲除突变体不同，TGF-β3 -/-小鼠没有其他伴随的颅面异常。这项研究证明了TGF-β3在腭和肺的正常形态发生中具有重要功能，并直接表明这种细胞因子参与上皮-间充质相互作用机制。
