Patapoutian A, Yoon J K, Miner J H, Wang S, Stark K, Wold B
Division of Biology 156-29, California Institute of Technology, Pasadena 91125, USA.
Development. 1995 Oct;121(10):3347-58. doi: 10.1242/dev.121.10.3347.
MRF4 (herculin/Myf-6) is one of the four member MyoD family of transcription factors identified by their ability to enforce skeletal muscle differentiation upon a wide variety of nonmuscle cell types. In this study the mouse germline MRF4 gene was disrupted by targeted recombination. Animals homozygous for the MRF4bh1 allele, a deletion of the functionally essential bHLH domain, displayed defective axial myogenesis and rib pattern formation, and they died at birth. Differences in somitogenesis between homozygous MRF4bh1 embryos and their wild-type littermates provided evidence for three distinct myogenic regulatory programs (My1-My3) in the somite, which correlate temporally and spatially with three waves of cellular recruitment to the expanding myotome. The first program (My1), marked initially by Myf-5 expression and followed by myogenin, began on schedule in the MRF4bh1/bh1 embryos at day 8 post coitum (E8). A second program (My2) was highly deficient in homozygous mutant MRF4 embryos, and normal expansion of the myotome failed. Moreover, expression of downstream muscle-specific genes, including FGF-6, which is a candidate regulator of inductive interactions, did not occur normally. The onset of MyoD expression around E10.5 in wild-type embryos marks a third myotomal program (My3), the execution of which was somewhat delayed in MRF4 mutant embryos but ultimately led to extensive myogenesis in the trunk. By E15 it appeared to have largely compensated for the defective My2 program in MRF4 mutants. Homozygous MRF4bh1 animals also showed improper rib pattern formation perhaps due to the absence of signals from cells expressing the My2 program. Finally, a later and relatively mild phenotype was detected in intercostal muscles of newborn animals.
MRF4(herculin/Myf-6)是MyoD转录因子家族的四个成员之一,该家族通过其在多种非肌肉细胞类型中促使骨骼肌分化的能力得以鉴定。在本研究中,小鼠种系MRF4基因通过靶向重组被破坏。对于MRF4bh1等位基因纯合的动物,其功能必需的bHLH结构域缺失,表现出轴向肌生成缺陷和肋骨模式形成异常,并在出生时死亡。MRF4bh1纯合胚胎与其野生型同窝仔鼠在体节发生上的差异为体节中三个不同的生肌调节程序(My1 - My3)提供了证据,这三个程序在时间和空间上与细胞向不断扩展的肌节募集的三波过程相关。第一个程序(My1)最初以Myf-5表达为标志,随后是肌细胞生成素,在交配后第8天(E8)的MRF4bh1/bh1胚胎中按时开始。第二个程序(My2)在MRF4纯合突变胚胎中高度缺陷,肌节的正常扩展失败。此外,包括FGF-6(一种诱导相互作用的候选调节因子)在内的下游肌肉特异性基因的表达未正常发生。野生型胚胎在E10.5左右MyoD表达的开始标志着第三个肌节程序(My3),该程序在MRF4突变胚胎中的执行有所延迟,但最终导致躯干中广泛的肌生成。到E15时,它似乎在很大程度上弥补了MRF4突变体中缺陷的My2程序。MRF4bh1纯合动物还表现出肋骨模式形成异常,这可能是由于缺乏来自表达My2程序的细胞的信号。最后,在新生动物的肋间肌中检测到一种较晚出现且相对较轻的表型。