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RNA Splicing

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...

RNA Splicing

RNA Splicing

Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...

Leaky Scanning

Leaky Scanning

During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA. Marilyn Kozak discovered that the sequence RCCAUGG (where R stands for...

Nonsense-mediated mRNA Decay

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

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Related Experiment Video

Updated: Jun 25, 2026

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

FIGLA Novel Variant c.385-9G>A Affects RNA Splicing in a Minigene Assay.

Ying Zhang^1,2, Jing Hu³, Lingyan Ren⁴

¹Department of Clinical Laboratory Medicine, Zhejiang Provincial People's Hospital Bijie Hospital (The First People's Hospital of Bijie), Bijie, Guizhou, China.

Annals of Human Genetics

|June 24, 2026

Summary

A novel genetic variant in the FIGLA gene (c.385-9G>A) was found to disrupt mRNA splicing, potentially causing premature ovarian insufficiency (POI) in a Chinese Miao family. This finding aids in understanding POI pathogenesis and genetic counseling.

Keywords:

FIGLA infertility premature ovarian insufficiency splicing minigene whole‐exome sequencing

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Last Updated: Jun 25, 2026

Using the E1A Minigene Tool to Study mRNA Splicing Changes

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Published on: April 22, 2021

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

Published on: September 15, 2021

Area of Science:

Genetics
Reproductive Biology
Molecular Biology

Background:

Premature ovarian insufficiency (POI) is a complex condition affecting women of reproductive age.
Identifying genetic factors is crucial for understanding POI etiology and developing diagnostic tools.

Purpose of the Study:

To screen for genetic variants associated with premature ovarian insufficiency (POI) in a Chinese Miao pedigree.
To investigate the functional impact of a novel identified variant on gene splicing.

Main Methods:

Whole exome sequencing (WES) was performed on the proband.
Bioinformatics analysis, Sanger sequencing, and minigene assays were utilized to identify and validate the genetic variant and its splicing effects.
The Rare Disease Data Center (RDDC) splicing tool was employed for initial analysis.

Main Results:

A novel heterozygous intronic variant (c.385-9G>A) in the FIGLA gene was identified in the pedigree.
The identified variant was predicted and experimentally confirmed to disrupt pre-mRNA splicing, leading to aberrant splicing of FIGLA introns.
Retention of a 7-bp intronic sequence in intron 2 of the mature mRNA was observed.

Conclusions:

The identified FIGLA variant (c.385-9G>A) disrupts mRNA splicing and is a potential cause of POI in the studied pedigree.
This discovery expands the known variant spectrum of the FIGLA gene and offers insights into POI pathogenesis.
The findings can assist in genetic counseling and early clinical diagnosis of infertility in women.