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Identification of seven genes essential for male fertility through a genome-wide association study of non-obstructive azoospermia and RNA interference-mediated large-scale functional screening in Drosophila.

Hum. Mol. Genet.2015 Mar 1;24(5):1493-503. Epub 2014 Oct 30
Jun Yu 1 , Hao Wu 1 , Yang Wen 2 , Yujuan Liu 1 , Tao Zhou 1 , Bixian Ni 2 , Yuan Lin 2 , Jing Dong 2 , Zuomin Zhou 1 , Zhibin Hu 3 , Xuejiang Guo 4 , Jiahao Sha 4 , Chao Tong 5
Jun Yu 1 , Hao Wu 1 , Yang Wen 2 , Yujuan Liu 1 , Tao Zhou 1 , Bixian Ni 2 , Yuan Lin 2 , Jing Dong 2 , Zuomin Zhou 1 , Zhibin Hu 3 , Xuejiang Guo 4 , Jiahao Sha 4 , Chao Tong 5
+ et al

[No authors listed]

Author information
  • 1 State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China.
  • 2 State Key Laboratory of Reproductive Medicine, Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, China.
  • 3 State Key Laboratory of Reproductive Medicine, Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing 211166, China ctong@zju.edu.cn shajh@njmu.edu.cn guo_xuejiang@njmu.edu.cn zhibin_hu@njmu.edu.cn.
  • 4 State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China, ctong@zju.edu.cn shajh@njmu.edu.cn guo_xuejiang@njmu.edu.cn zhibin_hu@njmu.edu.cn.
  • 5 Life Sciences Institute and Innovation Center for Cell Biology, Zhejiang University, Hangzhou 310058, China ctong@zju.edu.cn shajh@njmu.edu.cn guo_xuejiang@njmu.edu.cn zhibin_hu@njmu.edu.cn.

摘要

Non-obstructive azoospermia (NOA) is a complex and severe condition whose etiology remains largely unknown. In a genome-wide association study (GWAS) of NOA in Chinese men, few loci reached genome-wide significance, although this might be a result of genetic heterogeneity. Single nucleotide polymorphisms (SNPs) without genome-wide significance may also indicate genes that are essential for fertility, and multiple stage validation can lead to false-negative results. To perform large-scale functional screening of the genes surrounding these SNPs, we used in vivo RNA interference in Drosophila, which has a short maturation cycle and is suitable for high-throughput analysis. The analysis found that 7 (31.8%) of the 22 analyzed orthologous Drosophila genes were essential for male fertility. These genes corresponded to nine loci. Of these genes, leukocyte-antigen-related-like (Lar) is primarily required in germ cells to sustain spermatogenesis, whereas CG12404, doublesex-Mab-related 11E (dmrt11E), CG6769, estrogen-related receptor (ERR) and sulfateless (sfl) function in somatic cells. Interestingly, ERR and sfl are also required for testis morphogenesis. Our study thus demonstrates that SNPs without genome-wide significance in GWAS may also provide clues to disease-related genes and therefore warrant functional analysis.

基因

vas, dmrt11E, CG9220, CG6769, IA-2, papi, eya, CG12404, Fas3, Nak, Lar, Oseg5, Fak, shg, gek, sfl, ERR, sina, CG3925, bam, NfI

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