Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs)

• DOI: 10.1038/srep21831
• Publication Date: 2016-02-24T10:17:10Z
• Authors: Xiao Liu; Zesong Li; Zheng Su; Junjie Zhang; Honggang Li; Jun Xie; Hanshi Xu; Tao Jiang; Liya Luo; Ruifang Zhang; Xiaojing Zeng; Huaiqian Xu; Yi Huang; Lisha Mou; Jingchu Hu; Weiping Qian; Yong Zeng; Xiuqing Zhang; Chengliang Xiong; Huanming Yang; Karsten Kristiansen; Zhiming Cai; Jun Wang; Yaoting Gui
• Keywords: Haplogroup; Sequence-tagged site; Lineage (genetic); Sequence (biology); Azoospermia factor

Abstract Y-chromosomal microdeletion (YCM) serves as an important genetic factor in non-obstructive azoospermia (NOA). Multiplex polymerase chain reaction (PCR) is routinely used to detect YCMs by tracing sequence-tagged sites (STSs) the Y chromosome. Here we introduce a novel methodology which sequence 1,787 (post-filtering) STSs distributed across entire male-specific chromosome (MSY) parallel uncover known and YCMs. We validated this approach with 766 Chinese men NOA 683 ethnically matched healthy individuals detected 481 98 that were deleted control group, representing substantial portion of significantly influenced functions spermatogenic genes. The patients tended carry more rarer deletions enriched nearby intragenic regions. Haplogroup O2* was revealed be protective lineage for NOA, enrichment b1/b3 deletion haplogroup C also observed. In summary, our work provides new high-resolution portrait