Related Experiment Video

Updated: Apr 19, 2026

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

6.1K

Functional study of one nucleotide mutation in pri-miR-125a coding region which related to recurrent pregnancy loss

Yi Hu1, Zheng-Hao Huo2, Chun-Mei Liu3

  • 1Reproductive and Genetic Center of National Research Institute for Family Planning, Beijing, China; Chinese Academy of Sciences Key Laboratory of Pathogenic Microbiology and Immunology, Institute of Microbiology, Chinese Academy of Sciences, Beijing, China.

Plos One
|December 6, 2014
PubMed

Insights

A new mutation in pri-microRNA-125a (miRNA) is linked to recurrent pregnancy loss (RPL). This genetic change disrupts miRNA production, affecting gene regulation and increasing endometrial stromal cell invasiveness, contributing to RPL pathogenesis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Reproductive Medicine

Background:

  • MicroRNAs (miRNAs) are crucial regulators of gene expression involved in normal physiology and disease.
  • Aberrant miRNA expression is implicated in various diseases, including cancers and psychiatric disorders.
  • Emerging evidence suggests miRNAs play a role in the pathogenesis of recurrent pregnancy loss (RPL).

Purpose of the Study:

  • To investigate the role of mutations in the pri-miR-125a coding region in the genetic predisposition to RPL.
  • To identify and characterize a novel mutation in pri-miR-125a in Chinese Han RPL patients.
  • To elucidate the functional consequences of this mutation on miR-125a expression and target gene regulation.

Main Methods:

  • Genomic DNA sequencing of pri-miR-125a in 389 Chinese Han RPL patients.
  • In vitro analysis of the mutation's effect on mature miR-125a expression.
  • Functional assays on endometrial stromal cells (ESCs) to assess invasiveness and drug sensitivity.
  • RIP-chip assay to identify downstream targets affected by the mutant pri-miR-125a.

Main Results:

  • A novel mutation (+29A>G) was identified in the pri-miR-125a coding region of RPL patients, co-occurring with known polymorphisms.
  • The A>G mutation was shown to reduce mature miR-125a expression and impair its ability to inhibit target genes.
  • Mutant pri-miR-125a enhanced ESCs' invasive capacity and increased their sensitivity to mifepristone.
  • RIP-chip analysis revealed that the mutation disrupts the miR-125a targetome, affecting genes involved in embryonic development and cell functions.

Conclusions:

  • The identified A>G mutation in pri-miR-125a contributes to the genetic basis of RPL.
  • This mutation leads to reduced miR-125a production, disrupting gene regulatory networks essential for successful pregnancy.
  • The findings highlight the critical role of miR-125a in reproductive health and its potential as a biomarker for RPL.

More Related Videos

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

9.9K
Rare Event Detection Using Error-corrected DNA and RNA Sequencing10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

12.7K

Related Concept Videos

Mutations01:39

Mutations

Overview
98.5K
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
46.7K
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
4.4K
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After...
25.1K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.8K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
20.4K