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Translation

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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.
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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.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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Related Experiment Video

Updated: Jul 16, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Jessica Lacoste^1,2,3, Marzieh Haghighi^4,3, Shahan Haider^1,2

¹Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Canada.

Biorxiv : the Preprint Server for Biology

|September 21, 2023

Summary

This summary is machine-generated.

Determining the impact of genetic variants is challenging. A new imaging platform reveals that protein mislocalization affects one-sixth of disease-causing variants, impacting disease understanding.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 20, 2019

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Area of Science:

Human genetics
Molecular biology
Cell biology

Background:

Thousands of disease-causing missense variants are identified through sequencing.
Assessing the functional impact of these variants is a significant bottleneck in genetic research.

Approach:

Developed a high-throughput imaging platform to assay the impact of coding variation on protein localization.
Evaluated 3,547 missense variants across over 1,000 genes and associated phenotypes.

Key Points:

Protein mislocalization is a common consequence of coding variation, affecting approximately one-sixth of pathogenic missense variants.
Mislocalization impacts all cellular compartments and is observed in both recessive and dominant disorders.
The primary drivers of mislocalization are effects on protein stability and membrane insertion.

Conclusions:

Mislocalization patterns offer insights into pleiotropy, disease severity, and variants of unknown significance.
This publicly available resource will accelerate the understanding of coding variation in human diseases.