精子核周层的生理功能及其对男性不育的影响  

Physiological roles of perinuclear theca and its effects on male infertility

作　　者：耿新燕 陈苏仁 GENG Xinyan;CHEN Suren(College of Life Sciences,Beijing Normal University,100875,Beijing,China)

机构地区：[1]北京师范大学生命科学学院,北京100875

出　　处：《北京师范大学学报（自然科学版）》2023年第4期548-557,共10页Journal of Beijing Normal University(Natural Science)

基　　金：国家重点研发计划资助项目(2019YFA0802101)。

摘　　要：重点聚焦人和小鼠的精子核周层:介绍了其结构特点、蛋白组成与组装方式;就精子核周层的生理功能进行了详细归纳与总结;对精子核周层蛋白编码基因突变与男性不育的关联进行了总结.结果表明:精子核周层具有激活卵子、保护精子细胞核和介导顶体锚定等重要生理功能;PLCZ1基因变异是卵子激活失败的主要遗传病因,Ccin基因变异可导致精子头部畸形,Actl7A/Actl9基因变异与精子顶体脱落和卵子激活失败等密切相关;该领域未来可能在精子核周层的新功能、“顶体内膜-精子核周层-核膜”蛋白复合体的结构生物学和精子核周层蛋白编码基因突变筛查等方面取得突破.Human and mouse perinuclear theca,their structural features,protein compositions and assembly,physiological roles are summarized.The relationship between perinuclear theca protein-coding gene mutations and human male infertility is discussed.Data from knockout mice suggest that oocyte activation,protection of sperm nucleus,and acrosome-nucleus attachment of sperm are important physiological roles of perinuclear theca.Mutations in PLCZ1 gene are the main genetic cause of oocyte activation failure.Mutations in Ccin gene lead to male infertility due to deformities of sperm heads.Pathogenic variants of Actl7A or Actl9 genes cause sperm acrosome detachment and oocyte activation failure.Future works may focus on the following:novel functions of perinuclear theca,structural biology of‘inner acrosomal membrane-perinuclear theca-nuclear envelope’protein complexes,and mutation screening of genes coding for perinuclear theca proteins.

关 键 词：精子发生 男性不育 精子核周层 生理功能 基因敲除小鼠 

分 类 号：Q39[生物学—遗传学]