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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

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...
Polygenic Traits01:18

Polygenic Traits

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...
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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Related Experiment Video

Updated: May 8, 2026

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
10:50

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

Published on: February 25, 2017

Single cell expression quantitative trait loci and complex traits.

Enrico Petretto1

  • 1Medical Research Council (MRC) Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK.

Genome Medicine
|September 4, 2013
PubMed
Summary
This summary is machine-generated.

Single-cell analysis reveals hidden genetic effects on gene expression. Averaging gene expression masks crucial variations that influence disease, highlighting the need for new modeling approaches.

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Last Updated: May 8, 2026

Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards
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Single-cell Gene Expression Profiling Using FACS and qPCR with Internal Standards

Published on: February 25, 2017

Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations
10:23

Single-cell Gene Expression Using Multiplex RT-qPCR to Characterize Heterogeneity of Rare Lymphoid Populations

Published on: January 19, 2017

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations
09:34

A Combinatorial Single-cell Approach to Characterize the Molecular and Immunophenotypic Heterogeneity of Human Stem and Progenitor Populations

Published on: October 25, 2018

Area of Science:

  • Molecular Biology
  • Genetics
  • Cell Biology

Background:

  • Single-cell quantification techniques enable detailed analysis of gene expression.
  • Traditional gene expression studies average data across cell populations, potentially obscuring important biological insights.
  • Heritable variations can significantly impact gene function at the individual cell level.

Purpose of the Study:

  • To re-evaluate the role of heritable variations in gene function using single-cell mRNA abundance data.
  • To investigate how averaging gene expression masks critical sources of variation.
  • To explore the potential regulatory function of single-cell expression phenotypes in disease processes.

Main Methods:

  • Utilizing recently developed methods for quantifying mRNA abundance in single cells.
  • Analyzing gene expression patterns at the single-cell level.
  • Comparing single-cell expression data with traditionally averaged expression data.

Main Results:

  • Major sources of variation in gene expression are masked when data is averaged across many cells.
  • Heritable variations influencing single-cell expression phenotypes may play a regulatory role in disease.
  • Single-cell analysis provides a more nuanced understanding of gene expression variability.

Conclusions:

  • The impact of heritable variations on gene function is better understood through single-cell analysis.
  • Masked effects in gene expression due to averaging are significant and should be accounted for.
  • Modeling these masked effects is crucial for understanding gene regulation in disease contexts.