SOHLH2
Spermatogenesis and oogenesis specific basic helix-loop-helix 2 is a protein which in humans is encoded by the gene SOHLH2.[3] Like its homolog, SOHLH1, this protein is a transcription factor which is involved in the regulating the production of sperm and egg cells.[3]
Function
[edit]Spermatogenesis
[edit]Research in non-human animals suggests that SOHLH2 acts together with SOHLH1 to induce more sperm precursor cells (including spermatogonial stem cells or SSCs) to differentiate and ultimately become mature sperm cells.[4] This function seems to be closely tied to SOHLH1.[4] The two transcription factors are able to bind together to form heterodimers (in addition to binding to themselves as homodimers), and appear to cross-regulate by binding to each others promotors.[4] Like SOHLH1, mice without functional SOLHLH2 genes display very similar patterns of defects (notably male/female infertility), but knocking-out both SOHLH1 and SOHLH2 has a roughly similar effect to knocking out one or the other.[4] SOHLH1/2's function seems to be through their interaction and suppression of the genes that promote SSC maintenance including POU5F1, NANOS2, and GDNF receptor subunits.[4]
Oogenesis
[edit]Analogous to its expression in sperm production, SOHLH2 is highly expressed in the early precursors of egg cells and ovarian follicles.[5] SOHLH2, in coordination with SOHLH1, NOBOX, and LHX8, is involved in triggering the progression of (early) primordial follicles into more mature primary follicles.[6] Mice without a functional SOHLH2 gene produce primordial follicles, but these fail to differentiate properly, and are rapidly lost after birth.[5]
Clinical significance
[edit]In spite of the significant effects in animal models,[4] the connection between SOHLH2 mutations and human disease has not been as well established as SOHLH1.[3] Though, there have been some reports of an association with primary ovarian insufficiency.[6]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000120669 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 1 2 3 "SOHLH2 gene Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 2". genecards.org. LifeMap Sciences, Inc. Retrieved 2026-07-28.
- 1 2 3 4 5 6 Song HW, Wilkinson MF (2014-06-01). "Transcriptional control of spermatogonial maintenance and differentiation" (PDF). Seminars in cell & developmental biology. 30. Academic Press: 14–26. doi:10.1016/j.semcdb.2014.02.005.
- 1 2 Lim EJ, Choi Y (2012-12-31). "Transcription factors in the maintenance and survival of primordial follicles". Clinical and Experimental Reproductive Medicine. 39 (4): 127. doi:10.5653/cerm.2012.39.4.127.
- 1 2 Federici S, Rossetti R, Moleri S, Munari EV, Frixou M, Bonomi M, Persani L (2024-09-26). "Primary ovarian insufficiency: update on clinical and genetic findings". Frontiers in Endocrinology. 15. doi:10.3389/fendo.2024.1464803.