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X Chromosome and Spermatogenesis Defects

  1. Katrien Stouffs,
  2. Willy Lissens

Published Online: 15 NOV 2013

DOI: 10.1002/9780470015902.a0025311



How to Cite

Stouffs, K. and Lissens, W. 2013. X Chromosome and Spermatogenesis Defects. eLS. .

Author Information

  1. Vrije Universiteit Brussel (VUB), Brussel, Belgium

Publication History

  1. Published Online: 15 NOV 2013


Spermatogenesis, the process through which mature spermatozoa are formed, is a complex process requiring a very strict regulation. More than 2000 genes are involved in spermatogenesis. Part of these genes has a unique function during spermatogenesis. The X chromosome is special because only one copy is present in men, whereas women have two X copies. Moreover, the mammalian X chromosome is enriched for testis-specific genes. This makes the X chromosome particularly interesting in view of male infertility. Although multiple studies have tried to identify mutations in X-linked spermatogenesis genes, the number of causative mutations detected so far remains low. Nowadays, new techniques allow the analysis of the complete X chromosome in a single experiment. Within the next few years, the knowledge on the role of the X chromosome in male infertility (and consequently also in spermatogenesis) will increase.

Key Concepts:

  • Men are hemizygous for X-chromosomal genes: men only have one X chromosome; mutations in X-linked genes (might) have an immediate impact on spermatogenesis.

  • Spermatogenic failure can be caused by genetic defects.

  • The X chromosome is enriched for spermatogenesis genes.

  • Many multi-copy genes involved in spermatogenesis are also expressed in cancer cell lines. Therefore, these are often described as cancer-testis (CT) genes.

  • Many X-linked genes that are preferentially expressed in testis have not (yet) been evaluated in view of male infertility.

  • The study of individual genes in view of male infertility has been disappointing because it is a time-consuming process and often no differences with normal controls have been detected.


  • X chromosome;
  • spermatogenesis;
  • mutations;
  • infertility;
  • genetics;
  • polymorphisms;
  • genes