Human Disease Homologs

Human disease homologs are genes or proteins in other organisms that share common ancestry and sequence or functional similarity with human counterparts associated with disease. Conserved DNA regions, protein domains, and cellular pathways allow these homologs to retain related molecular roles, while mutations can reveal effects on gene regulation, protein activity, or cell function. Researchers investigate homologs in model organisms such as mice, zebrafish, and yeast to study disease mechanisms, evaluate genetic variants, and test potential treatments. This comparative approach connects evolutionary conservation with human biology and can identify experimental systems for understanding inherited disorders, cancer, infection, and other conditions.

Human Disease Homologs - Related Videos

Education

JoVE Core - Molecular Biology
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Homologous Recombination

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2020

The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...

Education

JoVE Core - Cell Biology
Free Sample

Homologous Recombination

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2023

The basic reaction of homologous recombination (HR) involves two chromatids that contain DNA sequences sharing a significant stretch of identity. One of these sequences uses a strand from another as a template to synthesize DNA in an enzyme-catalyzed reaction. The final product is a novel amalgamation of the two substrates. To ensure an accurate recombination of sequences, HR is restricted to the S and G2 phases of the cell cycle. At these stages, the DNA has been replicated already and the...

Research

JoVE Journal - Biology

Recombineering Homologous Recombination Constructs in Drosophila

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Cited by 9 •

2013

Homologous recombination techniques greatly advance Drosophila genetics by enabling the creation of molecularly precise mutations. The recent adoption of recombineering allows one to manipulate large pieces of DNA and transform them into Drosophila6. The methods presented here combine these techniques to rapidly generate large homologous recombination vectors.

The Use of Primary Human Fibroblasts for Monitoring Mitochondrial Phenotypes in the Field of Parkinson's Disease

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Cited by 22 •

2012

Fibroblasts from patients carrying mutations in Parkinson's disease-causing genes represent an easily accessible ex vivo model to study disease-associated phenotypes. Live cell imaging gives the opportunity to study morphological and functional parameters in living cells. Here we describe the preparation of human fibroblasts and subsequent monitoring of mitochondrial phenotypes.

Generation of Antibiotic-Marked Mutants in Cyanobacteria via Homologous Recombination

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2025

Source: Lea-Smith, D. J., et al. Generation of Marked and Markerless Mutants in Model Cyanobacterial Species. J. Vis. Exp. (2016)The video demonstrates a method for generating antibiotic-marked mutants in cyanobacteria. The protocol begins with culturing cyanobacteria, followed by centrifugation and washing steps that preserve surface pili. A plasmid carrying an antibiotic resistance gene flanked by homologous sequences is then introduced. During incubation, the plasmid is internalized via pili...

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