Skip to main content
Journal cover image

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

Publication ,  Journal Article
Yang, F; Silber, S; Leu, NA; Oates, RD; Marszalek, JD; Skaletsky, H; Brown, LG; Rozen, S; Page, DC; Wang, PJ
Published in: EMBO Mol Med
September 2015

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.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

EMBO Mol Med

DOI

EISSN

1757-4684

Publication Date

September 2015

Volume

7

Issue

9

Start / End Page

1198 / 1210

Location

Germany

Related Subject Headings

  • Recombination, Genetic
  • Mutation
  • Mutant Proteins
  • Mice, Transgenic
  • Mice
  • Meiosis
  • Male
  • Infertility, Male
  • Humans
  • Genetic Testing
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Yang, F., Silber, S., Leu, N. A., Oates, R. D., Marszalek, J. D., Skaletsky, H., … Wang, P. J. (2015). TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med, 7(9), 1198–1210. https://doi.org/10.15252/emmm.201404967
Yang, Fang, Sherman Silber, N Adrian Leu, Robert D. Oates, Janet D. Marszalek, Helen Skaletsky, Laura G. Brown, Steve Rozen, David C. Page, and P Jeremy Wang. “TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.EMBO Mol Med 7, no. 9 (September 2015): 1198–1210. https://doi.org/10.15252/emmm.201404967.
Yang F, Silber S, Leu NA, Oates RD, Marszalek JD, Skaletsky H, et al. TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med. 2015 Sep;7(9):1198–210.
Yang, Fang, et al. “TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse.EMBO Mol Med, vol. 7, no. 9, Sept. 2015, pp. 1198–210. Pubmed, doi:10.15252/emmm.201404967.
Yang F, Silber S, Leu NA, Oates RD, Marszalek JD, Skaletsky H, Brown LG, Rozen S, Page DC, Wang PJ. TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse. EMBO Mol Med. 2015 Sep;7(9):1198–1210.
Journal cover image

Published In

EMBO Mol Med

DOI

EISSN

1757-4684

Publication Date

September 2015

Volume

7

Issue

9

Start / End Page

1198 / 1210

Location

Germany

Related Subject Headings

  • Recombination, Genetic
  • Mutation
  • Mutant Proteins
  • Mice, Transgenic
  • Mice
  • Meiosis
  • Male
  • Infertility, Male
  • Humans
  • Genetic Testing