Phf7, or Plant homeodomain (PHD) finger protein 7, is a RING-type E3 ubiquitin ligase crucial for histone ubiquitination [1]. It contains three zinc-finger domains: an extended PHD (ePHD), a RING domain, and a PHD. PHF7 is involved in multiple biological pathways, including cardiac reprogramming, spermiogenesis, and bone remodeling. Genetic models, such as knockout mice, are valuable for studying its functions.

In Phf7-deficient mice, there are significant impacts on various biological processes. In spermiogenesis, histone-to-protamine exchange is impaired due to dysregulation of histone removal factor Bromodomain, testis-specific (BRDT), leading to male infertility [2]. Additionally, Phf7-deficient male mice show decreased body weight gain, bone mineral density, and content, along with increased osteoclast cells, which is attributed to reduced production of male sex hormones [3]. In Drosophila, loss of Phf7 function disrupts male germline sex determination and spermatogenesis [4].

In conclusion, Phf7 is essential for histone-related processes, spermatogenesis, and bone remodeling. The study of Phf7 knockout mouse models has provided insights into male infertility and bone-related conditions, highlighting its importance in these disease-relevant biological functions.

References:

1. Lee, Hyun Sik, Bang, Injin, You, Junghyun, Song, Ji-Joon, Choi, Hee-Jung. 2023. Molecular basis for PHF7-mediated ubiquitination of histone H3. In Genes & development, 37, 984-997. doi:10.1101/gad.350989.123. https://pubmed.ncbi.nlm.nih.gov/37993255/

2. Kim, Chang Rok, Noda, Taichi, Kim, Hyunkyung, Ikawa, Masahito, Baek, Sung Hee. . PHF7 Modulates BRDT Stability and Histone-to-Protamine Exchange during Spermiogenesis. In Cell reports, 32, 107950. doi:10.1016/j.celrep.2020.107950. https://pubmed.ncbi.nlm.nih.gov/32726616/

3. Kim, Ji Eun, Park, Seul Gi, Ka, Dan Bi, Yoon, Won Kee, Nam, Ki-Hoan. 2024. Phf7 has impacts on the body growth and bone remodeling by regulating testicular hormones in male mice. In Biochemical and biophysical research communications, 704, 149596. doi:10.1016/j.bbrc.2024.149596. https://pubmed.ncbi.nlm.nih.gov/38430697/

4. Yang, Shu Yuan, Baxter, Ellen M, Van Doren, Mark. . Phf7 controls male sex determination in the Drosophila germline. In Developmental cell, 22, 1041-51. doi:10.1016/j.devcel.2012.04.013. https://pubmed.ncbi.nlm.nih.gov/22595675/