X Chromosome and Spermatogenesis Defects

Katrien Stouffs, Willy Lissens

Research output: Chapter in Book/Report/Conference proceedingChapter


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.
Original languageEnglish
Title of host publicationeLS
ISBN (Electronic)9780470015902
Publication statusPublished - 15 Nov 2013


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

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