Novel Y-chromosomal microdeletions associated with non-obstructive azoospermia uncovered by high throughput sequencing of sequence-tagged sites (STSs).
نویسندگان
چکیده
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.
منابع مشابه
Multiplex-Polymerase Chain Reaction for Detecting Microdeletions in The Azoospermia Factor Region of Y Chromosome in Iranian Couples with Non-Obstructive Infertility and Recurrent Pregnancy Loss
Objective Approximately 15 percent of couples are infertile. The male factor is responsible for approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletion within the proximal long arm of the Y chromosome (Yq11), named azoospermia factor (AZF) region. Recent studies have also demonstrated that there is a potential connection ...
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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 (postfiltering) STSs distributed across the entire male-specific Y chromosome (MSY) in...
متن کاملبررسی مولکولی حذف‌های کروموزوم Y در نواحی AZF بیماران مبتلا به آزواسپرمی و اولیگواسپرمی غیر انسدادی مراجعه‌کننده به مرکز ناباروری منتصریه مشهد
Background and Aim: The Y-chromosome azoospermic factor (AZF) regions consist of genes whose specific roles and functions in spermatogenesis and fertility have not been completely clarified. Hence, recognition of the association between AZF microdeletions and male infertility has suggestions for the diagnosis, treatment, and genetic counseling. The main objective of the present study was invest...
متن کاملHigh prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia.
BACKGROUND & OBJECTIVES Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia factor (AZF) region including AZFa, AZFb, AZFc and AZFd on the long arm of Y chromosome are considered most important for spermatogenesis. Deletions in these regions are thought to be involved in some cases of male infertility associated with azoospermia or oligozoospermia...
متن کاملHIWI2 rs508485 Polymorphism Is Associated with Non-obstructive Azoospermia in Iranian Patients
Background: The PIWI-interacting RNA (piRNA) pathway has an essential role in transposon silencing, meiosis progression, spermatogenesis, and germline maintenance. HIWI genes are critical for piRNA biogenesis and function. Therefore, polymorphisms in HIWI genes contribute to spermatogenesis defects and can be considered as risk factors for male infertility. The aim of the present study was to i...
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ورودعنوان ژورنال:
- Scientific reports
دوره 6 شماره
صفحات -
تاریخ انتشار 2016