MIT Libraries homeMIT Libraries logoDSpace@MIT

MIT
View Item 
  • DSpace@MIT Home
  • MIT Open Access Articles
  • MIT Open Access Articles
  • View Item
  • DSpace@MIT Home
  • MIT Open Access Articles
  • MIT Open Access Articles
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

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

Author(s)
Yang, Fang; Silber, Sherman; Leu, N. Adrian; Oates, Robert D.; Marszalek, Janet D.; Skaletsky, Helen; Brown, Laura G.; Rozen, Steve; Wang, P. Jeremy; Page, David C; ... Show more Show less
Thumbnail
DownloadPage_TEX11 is mutated.pdf (2.133Mb)
PUBLISHER_CC

Publisher with Creative Commons License

Creative Commons Attribution

Terms of use
Creative Commons Attribution 4.0 International License http://creativecommons.org/licenses/by/4.0/
Metadata
Show full item record
Abstract
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.
Date issued
2015-07
URI
http://hdl.handle.net/1721.1/107724
Department
Massachusetts Institute of Technology. Department of Biology; Whitehead Institute for Biomedical Research
Journal
EMBO Molecular Medicine
Publisher
EMBO Press
Citation
Yang, Fang, Sherman Silber, N. Adrian Leu, Robert D. Oates, Janet D. Marszalek, . 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 Molecular Medicine 7, no. 9 (July 1, 2015): 1198–1210.
Version: Final published version
ISSN
1757-4676
1757-4684

Collections
  • MIT Open Access Articles

Browse

All of DSpaceCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects

My Account

Login

Statistics

OA StatisticsStatistics by CountryStatistics by Department
MIT Libraries homeMIT Libraries logo

Find us on

Twitter Facebook Instagram YouTube RSS

MIT Libraries navigation

SearchHours & locationsBorrow & requestResearch supportAbout us
PrivacyPermissionsAccessibility
MIT
Massachusetts Institute of Technology
Content created by the MIT Libraries, CC BY-NC unless otherwise noted. Notify us about copyright concerns.