X chromosome-wide identification of SNVs in microRNA genes and non-obstructive azoospermia risk in han chinese population.

X chromosome-wide identification of SNVs in microRNA genes and non-obstructive azoospermia risk in han chinese population.

Oncotarget. 2016 Apr 16;

Authors: Ji J, Qin Y, Zhou R, Zang R, Huang Z, Zhang Y, Chen M, Wu W, Song L, Ling X, Shen H, Hu Z, Xia Y, Lu C, Wang X

Abstract
Human X chromosome has higher densities of microRNAs (miRNAs) compared to the average densities on autosomes. Given that numbers of X-linked miRNAs can escape from meiotic sex chromosome inactivation (MSCI) silencing, it is proposed that X-linked miRNAs may play critical roles in the process of spermatogenesis. To test the hypothesis, we performed DNA capture sequencing of human X-linked miRNAs, which was followed by a two-stage case-control study to identify the non-obstructive azoospermia (NOA) related single nucleotide variants (SNVs) in 1107 NOA cases and 1191 fertile healthy controls. Eventually, we found rs5951785, located near hsa-miRNA-506/507, increased the risk of NOA, while rs1447393, near hsa-miRNA-510, decreased the risk of NOA. Functional analysis revealed that rs5951785 significantly inhibited cell proliferation and induced cell apoptosis. Taken together, our results demonstrated that X-linked miRNAs played important roles in the pathogenesis of NOA.

PMID: 27107421 [PubMed - as supplied by publisher]

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