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

Scientific Reports
Xiao LiuYaoting Gui

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) in the Y chromosome. Here we introduce a novel methodology in which we sequence 1,787 (post-filtering) STSs distributed across the entire male-specific Y chromosome (MSY) in parallel to uncover known and novel YCMs. We validated this approach with 766 Chinese men with NOA and 683 ethnically matched healthy individuals and detected 481 and 98 STSs that were deleted in the NOA and control group, representing a substantial portion of novel YCMs which significantly influenced the functions of spermatogenic genes. The NOA patients tended to carry more and rarer deletions that were enriched in nearby intragenic regions. Haplogroup O2* was revealed to be a protective lineage for NOA, in which the enrichment of b1/b3 deletion in haplogroup C was also observed. In summary, our work provides a new high-resolution portrait of deletions in the Y chromosome.

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Citations

Sep 17, 2019·Balkan Journal of Medical Genetics : BJMG·W HuangΒ Liang
Jan 18, 2021·Journal of Assisted Reproduction and Genetics·Xiangyin LiuYang Yu
Feb 20, 2021·The Application of Clinical Genetics·Matthew J RabinowitzTaylor P Kohn

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Datasets Mentioned

BETA
SRA237673

Methods Mentioned

BETA
PCR
biopsy
exome sequencing
electrophoresis

Software Mentioned

Hiseq2000
SOAP2

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