| First Author | Rivero-Hinojosa S | Year | 2021 |
| Journal | Nat Commun | Volume | 12 |
| Issue | 1 | Pages | 3846 |
| PubMed ID | 34158481 | Mgi Jnum | J:307511 |
| Mgi Id | MGI:6721211 | Doi | 10.1038/s41467-021-24140-6 |
| Citation | Rivero-Hinojosa S, et al. (2021) The combined action of CTCF and its testis-specific paralog BORIS is essential for spermatogenesis. Nat Commun 12(1):3846 |
| abstractText | CTCF is a key organizer of the 3D genome. Its specialized paralog, BORIS, heterodimerizes with CTCF but is expressed only in male germ cells and in cancer states. Unexpectedly, BORIS-null mice have only minimal germ cell defects. To understand the CTCF-BORIS relationship, mouse models with varied CTCF and BORIS levels were generated. Whereas Ctcf(+/+)Boris(+/+), Ctcf(+/-)Boris(+/+), and Ctcf(+/+)Boris(-/-) males are fertile, Ctcf(+/-)Boris(-/-) (Compound Mutant; CM) males are sterile. Testes with combined depletion of both CTCF and BORIS show reduced size, defective meiotic recombination, increased apoptosis, and malformed spermatozoa. Although CM germ cells exhibit only 25% of CTCF WT expression, chromatin binding of CTCF is preferentially lost from CTCF-BORIS heterodimeric sites. Furthermore, CM testes lose the expression of a large number of spermatogenesis genes and gain the expression of developmentally inappropriate genes that are "toxic" to fertility. Thus, a combined action of CTCF and BORIS is required to both repress pre-meiotic genes and activate post-meiotic genes for a complete spermatogenesis program. |
