Escalier Denise
Andrology Department, University Paris XI, CHU Kremlin Bicêtre, France.
Hum Reprod Update. 2006 Jul-Aug;12(4):449-61. doi: 10.1093/humupd/dml013. Epub 2006 Mar 24.
To date, 21 knockout mouse models are known to bear specific anomalies of the sperm flagellum structures leading to motility disorders. In addition, genes responsible for flagellar defects of two well-known spontaneous mutant mice have recently been identified. These models reveal genetic factors, which are required for the proper assembly of the axoneme, the annulus, the mitochondrial sheath and the fibrous sheath. Many of these genetic factors follow unexpected cellular pathways to act on sperm flagellum morphogenesis. These mouse models may bear anomalies which are restricted to the spermatozoa or display more complex phenotypes that often include neuropathies and/or cilia-related diseases. In human, several structural disorders of the sperm flagellum found in brothers or consanguineous men probably have a genetic origin, but the genes involved have not yet been identified. The mutant mice we present in this review are invaluable models, which can be used to identify potential candidate genes for infertile men with specific sperm flagellum anomalies.
迄今为止，已知有21种基因敲除小鼠模型存在精子鞭毛结构的特定异常，从而导致运动障碍。此外，最近已经鉴定出负责两种著名的自发突变小鼠鞭毛缺陷的基因。这些模型揭示了轴丝、环、线粒体鞘和纤维鞘正确组装所需的遗传因素。其中许多遗传因素遵循意想不到的细胞途径作用于精子鞭毛形态发生。这些小鼠模型可能存在仅限于精子的异常，或表现出更复杂的表型，通常包括神经病变和/或纤毛相关疾病。在人类中，在兄弟或近亲男性中发现的几种精子鞭毛结构障碍可能具有遗传起源，但相关基因尚未确定。我们在本综述中介绍的突变小鼠是非常有价值的模型，可用于为患有特定精子鞭毛异常的不育男性鉴定潜在的候选基因。
