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Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon has three reading...

Regulation of Expression at Multiple Steps

Regulation of Expression at Multiple Steps

The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the addition of a...

Regulation of Expression Occurs at Multiple Steps

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Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...

Regulation of Expression Occurs at Multiple Steps

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Gene expression can be regulated at almost every step from gene to protein. Transcription is the step that is most commonly regulated. This involves the binding of proteins to short regulatory sequences on the DNA. This association can either promote or inhibit the transcription of a gene associated with the respective sequence.
Transcription results in the generation of precursor (pre-mRNA) that consists of both exons and introns, which needs further processing before being translated to a...

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

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Related Experiment Video

Updated: Jul 2, 2026

Mapping Bacterial Functional Networks and Pathways in Escherichia Coli using Synthetic Genetic Arrays

Mapping Bacterial Functional Networks and Pathways in Escherichia Coli using Synthetic Genetic Arrays

Published on: November 12, 2012

The many roads to essential genes.

Jun-Rong Wei¹, Eric J Rubin

¹Department of Immunology and Infectious Diseases, Harvard School of Public Health, 200 Longwood Ave, Boston, MA 02115, USA.

Tuberculosis (Edinburgh, Scotland)

|October 10, 2008

Summary

This summary is machine-generated.

Researchers are improving genetic tools to find essential genes in Mycobacterium tuberculosis, which are key targets for new antibiotics. This review covers methods to identify and validate these vital bacterial genes.

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Last Updated: Jul 2, 2026

Mapping Bacterial Functional Networks and Pathways in Escherichia Coli using Synthetic Genetic Arrays

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Published on: November 12, 2012

High-throughput Yeast Plasmid Overexpression Screen

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Published on: July 27, 2011

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Microbiology
Genetics
Drug Discovery

Background:

Antibiotics are crucial for combating bacterial infections by inhibiting essential growth and survival functions.
Mycobacterium tuberculosis (Mtb) poses a significant global health challenge, necessitating novel therapeutic strategies.
Advancements in genetic tools are enhancing the ability to study Mtb and identify critical effector genes.

Purpose of the Study:

To review current strategies for identifying and validating essential genes in mycobacteria.
To highlight the importance of these genes as potential antibiotic targets.
To discuss future directions in essential gene discovery for Mtb.

Main Methods:

Review of existing literature on genetic methodologies in mycobacteria.
Analysis of techniques used for gene essentiality screening and validation.
Comparative assessment of different approaches for identifying Mtb essential genes.

Main Results:

Several established and emerging strategies exist for identifying essential genes in mycobacteria.
Validation of essentiality is critical for confirming target suitability for drug development.
Genetic tool improvements are accelerating the discovery of novel Mtb targets.

Conclusions:

Identifying and validating essential genes is a key strategy in the development of new anti-tubercular drugs.
Continued innovation in genetic tools will further refine the identification of Mtb essential genes.
Understanding essential gene functions provides a roadmap for future antibiotic development against M. tuberculosis.