de Yebra L, Ballescà J L, Vanrell J A, Bassas L, Oliva R
Molecular Genetics Research Group, Faculty of Medicine, University of Barcelona, Spain.
J Biol Chem. 1993 May 15;268(14):10553-7.
Male sterility due to abnormal sperm morphology or motion has been widely reported, although relatively little has been published on the sperm nuclear protein abnormalities. We report the first cases worldwide of infertile patients having a complete selective absence of protamine P2 in the sperm nucleus. This provides a selective phenotype that will aid understanding of the mechanisms of synthesis, processing, or function of the P2 protamines. In addition, it is of marked immediate relevance to medicine as it allows the diagnosis of this type of human male sterility and the opportunity to understand the basis of this defect.
由于精子形态或运动异常导致的男性不育已被广泛报道，尽管关于精子核蛋白异常的报道相对较少。我们报告了世界范围内首例精子核中完全选择性缺乏鱼精蛋白P2的不育患者病例。这提供了一种选择性表型，将有助于理解P2鱼精蛋白的合成、加工或功能机制。此外，它与医学有着直接的显著关联，因为它能够诊断这种类型的人类男性不育，并为了解这种缺陷的基础提供了契机。
