Related Experiment Video
Updated: Jun 6, 2026
09:09
Protocol for Assessing the Relative Effects of Environment and Genetics on Antler and Body Growth for a Long-lived Cervid
Published on: August 8, 2017
Population- and individual-specific regulatory variation in Sardinia
Mauro Pala1,2,3, Zachary Zappala4, Mara Marongiu1
1Istituto di Ricerca Genetica e Biomedica (IRGB), CNR, Monserrato, Italy.
Nature Genetics
|April 11, 2017
Summary
This study identifies regulatory variants influencing gene expression and splicing in Sardinian individuals. These findings offer new methods to study large-effect regulatory variants and their connection to population history and genetic risk.
Area of Science:
- Genomics
- Population Genetics
- Molecular Biology
Background:
- Complex traits are often associated with noncoding genetic variants.
- Understanding regulatory variation is crucial for deciphering trait heritability.
Purpose of the Study:
- To identify common and rare variants affecting gene expression and splicing.
- To explore the role of regulatory variation in population history and disease risk.
Main Methods:
- Combined whole-genome and transcriptome data from 624 Sardinian individuals.
- Identified expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs).
- Analyzed segregating expression outliers and their association with rare variants.
Main Results:
- Discovered 21,183 eQTLs and 6,768 sQTLs, including 619 novel QTLs.
- Found evidence of selection near genes related to malarial resistance and multiple sclerosis risk.
- Identified 809 segregating expression outliers, enriched for proximal rare variants.
Conclusions:
- Regulatory variants significantly impact gene expression and splicing.
- This study provides a novel approach to investigate large-effect regulatory variants.
- Findings link regulatory variation to population history and individual genetic risk.
Related Concept Videos
01:21Frequency-dependent Selection
When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.Positive Frequency-Dependent SelectionIn positive...
01:25What is Population Genetics?
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.While some alleles of a given gene might be observed commonly, other variants...
01:09Mutation, Gene Flow, and Genetic Drift
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).Mechanisms of Genetic VariationThe original sources of genetic variation are mutations,...
02:02Cis-regulatory Sequences
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
01:24Dosage Regimen: Individualization
Individualization in dosing regimens is the customization of medication doses for individual patients. Its necessity arises from the goal of maximizing therapeutic benefits while minimizing risks. This approach is pivotal because human responses to drugs can vary widely; what is effective for one person may be inadequate or excessive for another. Interpatient (intersubject) variability refers to differences in drug responses between individuals, while intrapatient (intrasubject) variability...
01:25Genetic Variation
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Genes exist in different versions called alleles, which...