TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.

Journal Article (Journal Article)

Genome-wide recombination is essential for genome stability, evolution, and speciation. Mouse Tex11, an X-linked meiosis-specific gene, promotes meiotic recombination and chromosomal synapsis. Here, we report that TEX11 is mutated in infertile men with non-obstructive azoospermia and that an analogous mutation in the mouse impairs meiosis. Genetic screening of a large cohort of idiopathic infertile men reveals that TEX11 mutations, including frameshift and splicing acceptor site mutations, cause infertility in 1% of azoospermic men. Functional evaluation of three analogous human TEX11 missense mutations in transgenic mouse models identified one mutation (V748A) as a potential infertility allele and found two mutations non-causative. In the mouse model, an intronless autosomal Tex11 transgene functionally substitutes for the X-linked Tex11 gene, providing genetic evidence for the X-to-autosomal retrotransposition evolution phenomenon. Furthermore, we find that TEX11 protein levels modulate genome-wide recombination rates in both sexes. These studies indicate that TEX11 alleles affecting expression level or substituting single amino acids may contribute to variations in recombination rates between sexes and among individuals in humans.

Full Text

Duke Authors

Cited Authors

  • Yang, F; Silber, S; Leu, NA; Oates, RD; Marszalek, JD; Skaletsky, H; Brown, LG; Rozen, S; Page, DC; Wang, PJ

Published Date

  • September 2015

Published In

Volume / Issue

  • 7 / 9

Start / End Page

  • 1198 - 1210

PubMed ID

  • 26136358

Pubmed Central ID

  • PMC4568952

Electronic International Standard Serial Number (EISSN)

  • 1757-4684

Digital Object Identifier (DOI)

  • 10.15252/emmm.201404967


  • eng

Conference Location

  • England