Journal
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
Volume 13, Issue -, Pages -Publisher
BMC
DOI: 10.1186/s12958-015-0074-4
Keywords
Male infertility; Idiopathic azoospermia; UBE2B; SP1
Categories
Funding
- National Natural Science Foundation of China [31271244, 81200465]
- Guangdong Natural Science Foundation of China [2014A030313785]
- Shenzhen Foundation of Science and Technology [GJHZ20140414170821192, JCYJ20140414170821337]
- 'Three Outstanding Projects' of Shenzhen
- Project of Shenzhen Engineering Center
- Clinical Doctor-Basic Scientist Combination Foundation of Shenzhen Second People's Hospital
- Key Laboratory Project of Shenzhen Second People's Hospital
Ask authors/readers for more resources
Background: A variety of genetic variants lead to abnormal human spermatogenesis. The ubiquitin-conjugating enzyme E2B (UBE2B) plays a significant role in spermatogenesis as Ube2b-knockout male mice are infertile. Methods: In this study, we sequenced the exon and promoter region of UBE2B in 776 patients diagnosed with idiopathic azoospermia (IA) and 709 proven fertile men to examine whether UBE2B is involved in the pathogenesis of IA. Results: In the exon region, two novel synonymous variants were detected in the patient group. In the promoter region, four known variants and four novel variants were identified in the patient group. Of the novel variants in the promoter region, three were located at the binding site of specificity protein 1 (SP1) transcription factor analyzed by TRANSFAC software. Luciferase assays demonstrated that one heterozygous variant (Chr5.133706925 A > G) inhibited the transcriptional regulation activity of SP1. Conclusions: A novel variant (Chr5.133706925 A > G) residing in the UBE2B gene promoter region confers a high risk for IA in a Chinese population. These results support a role for UBE2B in the pathogenesis of IA.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available