期刊
CELL MOTILITY AND THE CYTOSKELETON
卷 64, 期 5, 页码 360-376出版社
WILEY-LISS
DOI: 10.1002/cm.20189
关键词
cilia; axoneme; motility; gene targeting; primary ciliary dyskinesia
类别
资金
- AHRQ HHS [HS06724] Funding Source: Medline
- NICHD NIH HHS [HD37416] Funding Source: Medline
- NIDDK NIH HHS [DK19525] Funding Source: Medline
SPAG6 and SPAG16L are proteins localized to the 9+2 axoneme central apparatus. Both are essential for sperm motility and male fertility. These two proteins are also expressed in other tissues containing ciliated cells, such as brain and lung. To study the effects of combined deficiency of these two proteins, a double mutant mouse model was created. The double mutant mice displayed a more profound phenotype of growth retardation and hydrocephalus compared to mice nullizygous for SPAG6 and SPAG16L alone. The double mutant mice died younger, and mortality was significantly higher than in single mutant mice. In addition, the double mutant mice demonstrated pneumonia and its complications, including hemorrhage, edema, and atelectasis, phenotypes not observed in mice nullizygous for mutations in the individual genes. No other cilia-related phenotypic change was detected in double mutant mice including lateralization defects. The ultrastructure of cilia in both the brain and lung of the double mutant mice appeared normal. This model of combined SPAG6 and SPAG16L deficiency provides a new platform to study primary ciliary dyskinesia. The findings also demonstrate that SPAG6 and SPAG16L have related roles in controlling the function of cilia in the brain and lung.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据