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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

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Point and Frameshift Mutations

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...

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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...

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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

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Related Experiment Video

Updated: Nov 11, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiency.

Satish Maharaj¹, Sofia Saenz Ayala², Xiaolin Hu²

¹Department of Hematology & Oncology, University of Louisville, Louisville, Kentucky.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis

|March 26, 2021

Summary

This study identified two novel mutations in the F5 gene causing moderate factor V deficiency (FVD), a rare bleeding disorder. These genetic findings explain the patient's low factor V activity and bleeding symptoms.

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Last Updated: Nov 11, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

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Area of Science:

Genetics
Hematology
Molecular Biology

Background:

Congenital factor V deficiency (FVD) is a rare inherited bleeding disorder.
Understanding the genetic underpinnings of FVD is crucial for diagnosis and management.

Observation:

A case study of an African American patient with severe FVD (3% factor V activity) was conducted.
Next-generation sequencing (NGS) and Sanger sequencing were employed to analyze the F5 gene.
Two novel genetic variants were identified in the patient's F5 gene.

Findings:

A splice site mutation (c.6529-1G>T) in intron 24 of the F5 gene was identified.
A missense mutation (c.1667G>A) in exon 11, affecting a conserved amino acid in the A2 domain, was also found.
In silico analyses supported the clinical correlation of these variants with reduced factor V activity and bleeding phenotype.

Implications:

These novel mutations contribute to the known spectrum of F5 gene alterations causing FVD.
Further research is needed to elucidate the precise mechanisms by which these mutations impact factor V expression and function.
Identifying novel FVD mutations aids in genetic counseling and potential therapeutic strategies for bleeding disorders.