Li Z, Colucci-Guyon E, Pinçon-Raymond M, Mericskay M, Pournin S, Paulin D, Babinet C
Biologie moléculaire de la différenciation, SCME, Paris, France.
Dev Biol. 1996 May 1;175(2):362-6. doi: 10.1006/dbio.1996.0122.
In order to further our understanding of the biological role of desmin, the muscle-specific intermediate filament protein, a null mutation in the desmin gene was introduced into the germ line of mice. Despite the complete lack of desmin, these mice developed and reproduced. Since we show that skeletal, cardiac, and smooth muscles form in the Des-/- mice, it is reasonable to propose that desmin is not essential for myogenic commitment or for myoblast fusion or differentiation in vivo. However, morphological abnormalities were observed in the diaphragm of adult mice; these were demonstrated by disorganized, distended, and nonaligned fibers. The heart presented areas of hemorrhaging in which fibrosis and ischemia were observed. We have also shown that the absence of desmin produces specific defects in smooth muscles. In conclusion, our results have demonstrated that desmin is not required for the differentiation of skeletal, cardiac, and smooth muscles but is essential to strengthen and maintain the integrity of these tissues.
为了进一步了解结蛋白（一种肌肉特异性中间丝蛋白）的生物学作用，我们将结蛋白基因的无效突变引入小鼠生殖系。尽管完全缺乏结蛋白，但这些小鼠仍能发育和繁殖。由于我们发现Des-/-小鼠中可形成骨骼肌、心肌和平滑肌，因此有理由提出，结蛋白对于体内的肌源性定向、成肌细胞融合或分化并非必不可少。然而，在成年小鼠的膈肌中观察到形态异常；这些异常表现为纤维排列紊乱、扩张和排列不齐。心脏出现了出血区域，其中观察到纤维化和局部缺血。我们还表明，结蛋白的缺失会在平滑肌中产生特定缺陷。总之，我们的结果表明，结蛋白对于骨骼肌、心肌和平滑肌的分化并非必需，但对于加强和维持这些组织的完整性至关重要。
