Genomic landscape of developing male germ cells

Birth Defects Res C Embryo Today. 2009 Mar;87(1):43-63. doi: 10.1002/bdrc.20147.


Spermatogenesis is a highly orchestrated developmental process by which spermatogonia develop into mature spermatozoa. This process involves many testis- or male germ cell-specific gene products whose expressions are strictly regulated. In the past decade the advent of high-throughput gene expression analytical techniques has made functional genomic studies of this process, particularly in model animals such as mice and rats, feasible and practical. These studies have just begun to reveal the complexity of the genomic landscape of the developing male germ cells. Over 50% of the mouse and rat genome are expressed during testicular development. Among transcripts present in germ cells, 40% - 60% are uncharacterized. A number of genes, and consequently their associated biological pathways, are differentially expressed at different stages of spermatogenesis. Developing male germ cells present a rich repertoire of genetic processes. Tissue-specific as well as spermatogenesis stage-specific alternative splicing of genes exemplifies the complexity of genome expression. In addition to this layer of control, discoveries of abundant presence of antisense transcripts, expressed psuedogenes, non-coding RNAs (ncRNA) including long ncRNAs, microRNAs (miRNAs) and Piwi-interacting RNAs (piRNAs), and retrogenes all point to the presence of multiple layers of expression and functional regulation in male germ cells. It is anticipated that application of systems biology approaches will further our understanding of the regulatory mechanism of spermatogenesis.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Alternative Splicing / genetics
  • Animals
  • Antisense Elements (Genetics)
  • Gene Expression Profiling
  • Gene Expression Regulation, Developmental*
  • Genome-Wide Association Study
  • Humans
  • Male
  • MicroRNAs / genetics
  • RNA, Small Interfering / genetics
  • Spermatogenesis / genetics*
  • Spermatogenesis / physiology
  • Spermatozoa / metabolism*


  • Antisense Elements (Genetics)
  • MicroRNAs
  • RNA, Small Interfering