Castillo Judit, Estanyol Josep Maria, Ballescá Josep Lluis, Oliva Rafael
Human Genetics Research Group, IDIBAPS, Faculty of Medicine, University of Barcelona, Casanova 143; Biochemistry and Molecular Genetics Service, Biomedical Diagnostic Centre, Hospital Clinic, Villarroel 170, 08036 Barcelona, Spain.
Asian J Androl. 2015 Jul-Aug;17(4):601-9. doi: 10.4103/1008-682X.153302.
The classical idea about the function of the mammalian sperm chromatin is that it serves to transmit a highly protected and transcriptionally inactive paternal genome, largely condensed by protamines, to the next generation. In addition, recent sperm chromatin genome-wide dissection studies indicate the presence of a differential distribution of the genes and repetitive sequences in the protamine-condensed and histone-condensed sperm chromatin domains, which could be potentially involved in regulatory roles after fertilization. Interestingly, recent proteomic studies have shown that sperm chromatin contains many additional proteins, in addition to the abundant histones and protamines, with specific modifications and chromatin affinity features which are also delivered to the oocyte. Both gene and protein signatures seem to be altered in infertile patients and, as such, are consistent with the potential involvement of the sperm chromatin landscape in early embryo development. This present work reviews the available information on the composition of the human sperm chromatin and its epigenetic potential, with a particular focus on recent results derived from high-throughput genomic and proteomic studies. As a complement, we provide experimental evidence for the detection of phosphorylations and acetylations in human protamine 1 using a mass spectrometry approach. The available data indicate that the sperm chromatin is much more complex than what it was previously thought, raising the possibility that it could also serve to transmit crucial paternal epigenetic information to the embryo.
关于哺乳动物精子染色质功能的经典观点是,它用于将高度受保护且转录无活性的父本基因组传递给下一代,该基因组主要由鱼精蛋白凝聚而成。此外,最近的精子染色质全基因组剖析研究表明,在鱼精蛋白凝聚和组蛋白凝聚的精子染色质结构域中,基因和重复序列存在差异分布,这可能在受精后发挥调控作用。有趣的是,最近的蛋白质组学研究表明,除了丰富的组蛋白和鱼精蛋白外,精子染色质还含有许多其他蛋白质,这些蛋白质具有特定的修饰和染色质亲和特性,也会传递给卵母细胞。不育患者的基因和蛋白质特征似乎都发生了改变,因此,这与精子染色质格局在早期胚胎发育中的潜在作用是一致的。本研究综述了关于人类精子染色质组成及其表观遗传潜力的现有信息,特别关注了高通量基因组和蛋白质组学研究的最新结果。作为补充,我们提供了使用质谱方法检测人类鱼精蛋白1磷酸化和乙酰化的实验证据。现有数据表明,精子染色质比之前认为的要复杂得多,这增加了它也可能将关键的父本表观遗传信息传递给胚胎的可能性。