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Related Concept Videos

Heritability01:06

Heritability

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Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Genome-wide Association Studies-GWAS01:11

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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.
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Behavioral Genetics and Its Designs01:23

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Related Experiment Video

Updated: Jun 11, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Transcripts with high distal heritability mediate genetic effects on complex metabolic traits.

Anna L Tyler, J Matthew Mahoney, Mark P Keller

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    Complex gene regulation, often far from the gene itself, significantly impacts traits like obesity. This study identified a gene expression signature predicting metabolic disease, highlighting the importance of distal genetic effects.

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    Area of Science:

    • Genetics
    • Systems Biology
    • Metabolic Disease Research

    Background:

    • Phenotypic variability in complex traits is influenced by gene regulation.
    • Recent evidence points to distal gene regulation playing a critical role.
    • Understanding these complex regulatory mechanisms is key to deciphering disease etiology.

    Purpose of the Study:

    • To investigate the role of distal gene regulation in mediating complex traits.
    • To model diet-induced obesity and metabolic disease using multi-tissue transcriptomes and physiological outcomes.
    • To identify genetic effects on gene expression that contribute to metabolic variation.

    Main Methods:

    • Utilized multi-tissue transcriptomes and physiological data from Diversity Outbred mice.
    • Applied a novel high-dimensional mediation analysis to model gene expression and metabolic traits.
    • Validated findings in an independent mouse cohort and human studies.

    Main Results:

    • Identified a composite transcriptome signature explaining 30% of variation in metabolic traits.
    • The signature was heritable, biologically interpretable, and predictive of obesity.
    • Key transcripts showed complex, distal regulation across the genome.

    Conclusions:

    • Trait-relevant variation in transcription is predominantly distally regulated.
    • Distal gene regulation, though complex, is identifiable, interpretable, and translatable across species.
    • This highlights distal regulation as a major contributor to phenotypic variability in metabolic diseases.