Medical Implications of sperm nuclear quality

Abstract

The sperm nucleus is essential in the appropriate transmission of the paternal genome. Therefore, it has long been recognized that one of the key components of the sperm nuclear quality is the quality of the genomic DNA delivered by the sperm cell. In addition, it has recently been uncovered that other important components of the quality of the sperm cell nucleus are represented by its proteome and its epigenome. Sperm genome quality implies a correct number of chromosomes and the integrity of the DNA sequence. Sperm nuclear proteome quality means an appropriate composition in nuclear proteins that organize and condense the male genome, including protamines and other chromatin-associated proteins. The specific organization of the male genome, together with appropriate DNA methylation, and other components of the epigenome such as modified histones and RNA, carried by the sperm cell, constitutes the sperm epigenome. This chapter reviews the current state of the art of the normal genomic, proteomic, and epigenetic sperm cell constitution and the proven and potential medical implications of its anomalies. © Springer-Verlag Berlin Heidelberg 2011.