Related Experiment Video

Updated: Apr 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K

SNPs in APOBEC3 cytosine deaminases and their association with Visna/Maedi disease progression

A Esparza-Baquer1, A Larruskain1, M Mateo-Abad2

  • 1Genetics, Physical Anthropology and Animal Physiology Department, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), Leioa, Spain.

Veterinary Immunology and Immunopathology
|December 24, 2014
PubMed

Insights

Genetic variations in sheep APOBEC3Z1 genes were identified, potentially impacting protein stability and microRNA interactions. These findings suggest candidate genes for future studies on retroviral diseases like Visna/Maedi.

Area of Science:

  • * Genetics and Molecular Biology
  • * Immunology and Virology

Background:

  • * The Apolipoprotein B mRNA-editing catalytic polypeptide-like 3 (APOBEC3) gene family plays a crucial role in innate immunity by restricting retroviral replication.
  • * Three sheep APOBEC3 genes (APOBEC3Z1, APOBEC3Z2, APOBEC3Z3) have been identified, with potential implications for disease resistance.

Purpose of the Study:

  • * To identify genetic polymorphisms within the sheep APOBEC3 genes.
  • * To assess the potential impact of identified polymorphisms on protein stability and microRNA binding.
  • * To explore the association of APOBEC3Z1 polymorphisms with Visna/Maedi disease in sheep.

Main Methods:

  • * Screening of APOBEC3Z1, APOBEC3Z2, and APOBEC3Z3 genes for polymorphisms.
  • * Bioinformatic analysis for predicting the effect of amino acid substitutions on protein thermo stability.
  • * Analysis of 3'UTR SNPs for alterations in microRNA target sites.
  • * Association studies using selected SNPs and Visna/Maedi disease data.

Main Results:

  • * No polymorphisms were found in APOBEC3Z2 and APOBEC3Z3 genes.
  • * APOBEC3Z1 gene exhibited 16 single nucleotide polymorphisms (SNPs) and a 3-bp deletion, with several predicted to affect protein stability.
  • * Two novel microRNA target sites were identified in the 3'UTR of APOBEC3Z1.
  • * Association analyses for Visna/Maedi disease were inconclusive, likely due to allele frequency distributions.

Conclusions:

  • * The APOBEC3Z1 gene harbors significant genetic variation that may influence its antiviral function.
  • * Identified polymorphisms affecting protein stability and microRNA interactions warrant further investigation.
  • * APOBEC3 genes remain promising candidates for association studies related to retroviral diseases in sheep, despite inconclusive initial findings.
Keywords:
APOBEC3 genesAssociation analysisMicroRNA target sitesSingle nucleotide polymorphismVisna/Maedi

More Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.9K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

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

Published on: August 20, 2019

14.5K

Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
20.4K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
19.4K
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
104
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
17.2K
RNA Editing02:23

RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...
10.3K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
10.2K