• PMID: 26878912
• Gene Name: BRD7
• Condition: Impaired spermatogenesis, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Impaired spermatogenesis, Male infertility

Knockout of BRD7 results in impaired spermatogenesis and male infertility

Wang H, Zhao R, Guo C, Jiang S, Yang J, Xu Y, Liu Y, Fan L, Xiong W, Ma J, Peng S, Zeng Z, Zhou Y, Li X, Li Z, Li X, Schmitt DC, Tan M, Li G, Zhou M.

BRD7 was originally identified as a novel bromodomain gene and a potential transcriptional factor. BRD7 was found to be extensively expressed in multiple mouse tissues but was highly expressed in the testis. Furthermore, BRD7 was located in germ cells during multiple stages of spermatogenesis, ranging from the pachytene to the round spermatid stage. Homozygous knockout of BRD7 (BRD7(-/-)) resulted in complete male infertility and spermatogenesis defects, including deformed acrosomal formation, degenerative elongating spermatids and irregular head morphology in postmeiotic germ cells in the seminiferous epithelium, which led to the complete arrest of spermatogenesis at step 13. Moreover, a high ratio of apoptosis was determined by TUNEL analysis, which was supported by high levels of the apoptosis markers annexin V and p53 in knockout testes. Increased expression of the DNA damage maker λH2AX was also found in BRD7(-/-) mice, whereas DNA damage repair genes were down-regulated. Furthermore, no or lower expression of BRD7 was detected in the testes of azoospermia patients exhibiting spermatogenesis arrest than that in control group. These data demonstrate that BRD7 is involved in male infertility and spermatogenesis in mice, and BRD7 defect might be associated with the occurrence and development of human azoospermia. FAU - Wang, Heran AU - Wang H AD - Hunan Cancer Hospital and The Affiliated Tumor Hospital of Xiangya Medical School, Central South University, Changsha, Hunan 410013, P.R. China. AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Zhao, Ran AU - Zhao R AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Guo, Chi AU - Guo C AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Jiang, Shihe AU - Jiang S AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Yang, Jing AU - Yang J AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Xu, Yang AU - Xu Y AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Liu, Yukun AU - Liu Y AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Fan, Liqing AU - Fan L AD - Institute of reproduction and stem cell engineering, Central South University, Changsha, Hunan, 410078, P.R. China. FAU - Xiong, Wei AU - Xiong W AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Ma, Jian AU - Ma J AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Peng, Shuping AU - Peng S AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Zeng, Zhaoyang AU - Zeng Z AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Zhou, Yanhong AU - Zhou Y AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Li, Xiayu AU - Li X AD - The Third Xiang-Ya Hospital, Central South University, Changsha, Hunan 410013, P.R. China. FAU - Li, Zheng AU - Li Z AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Li, Xiaoling AU - Li X AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China. FAU - Schmitt, David C AU - Schmitt DC AD - Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama 36604, USA. FAU - Tan, Ming AU - Tan M AD - Mitchell Cancer Institute, University of South Alabama, Mobile, Alabama 36604, USA. FAU - Li, Guiyuan AU - Li G AD - Hunan Cancer Hospital and The Affiliated Tumor Hospital of Xiangya Medical School, Central South University, Changsha, Hunan 410013, P.R. China. AD - Cancer Research Institute, Central South University, Key Laboratory of Carcinogenesis, Ministry of Health, Changsha, Hunan, 410078, P.R. China.