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Mutations

Mutations

Mutations

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...

Translation

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...

Non-LTR Retrotransposons

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...

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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Related Experiment Video

Updated: Mar 2, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Deep intronic mutations and human disease.

Rita Vaz-Drago¹, Noélia Custódio¹, Maria Carmo-Fonseca²

¹Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Av. Prof. Egas Moniz, 1649-028, Lisbon, Portugal.

|May 13, 2017

Summary

This summary is machine-generated.

Deep intronic mutations, often missed by standard genetic testing, cause many genetic disorders. Analyzing entire genomes and mRNA reveals these deep variants, crucial for diagnosing rare diseases and hereditary cancers.

Keywords:

Androgen Insensitivity Syndrome Duchenne Muscular Dystrophy Fabry Disease Splice Enhancer Splice Site

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Area of Science:

Genomics
Molecular Biology
Clinical Diagnostics

Background:

Next-generation sequencing (NGS) has transformed genetic diagnostics.
Exonic and exon-intron boundary sequencing misses causative mutations in many patients.
Deep intronic variants are an underappreciated cause of genetic diseases.

Purpose of the Study:

To review evidence for pathogenic deep intronic mutations.
To highlight the mechanisms and impact of deep intronic variants.
To emphasize the importance of deep intronic sequencing in diagnostics.

Main Methods:

Review of mRNA analysis studies.
Review of whole-genome sequencing data.
Analysis of pathogenic variants >100 bp from exon-intron junctions.

Main Results:

Pathogenic mutations occur deep within introns of >75 disease genes.
Deep intronic variants cause pseudo-exon inclusion via splice site activation or regulatory element changes.
Deep intronic mutations can affect transcription factors and non-coding RNAs.

Conclusions:

Studying deep intronic variation is essential for diagnosing monogenic disorders.
Deep intronic mutations are implicated in hereditary cancer syndromes.
Comprehensive genomic analysis including deep introns improves diagnostic yield.