X Chromosome and Spermatogenesis Defects

Abstract

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.

Keywords: X chromosome; spermatogenesis; mutations; infertility; genetics; polymorphisms; genes

Figure 1.

Comparison of the X and Y chromosomes.

Figure 2.

Array CGH: example of a CNV present on the X chromosome.

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How to Cite close
Stouffs, Katrien, and Lissens, Willy(Nov 2013) X Chromosome and Spermatogenesis Defects. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0025311]