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Related Concept Videos

Cis-regulatory Sequences02:02

Cis-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...
Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Combinatorial Gene Control02:33

Combinatorial Gene Control

Combinatorial gene control is the synergistic action of several transcriptional factors to regulate the expression of a single gene. The absence of one or more of these factors may lead to a significant difference in the level of gene expression or repression.
The expression of more than 30,000 genes is controlled by approximately 2000-3000 transcription factors. This is possible because a single transcription factor can recognize more than one regulatory sequence. The specificity in gene...
Covalently Linked Protein Regulators02:04

Covalently Linked Protein Regulators

Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein.
Regulation of Expression at Multiple Steps01:23

Regulation of Expression at Multiple Steps

The gene expression in cells is regulated at different stages: (i) transcription, (ii) RNA processing, (iii) RNA localization, and (iv) translation. Transcriptional regulation is mediated by regulatory proteins such as transcription factors, activators, or repressors—these control gene expression by initiating or inhibiting the transcription of genes. Once a precursor or pre-mRNA is produced, it undergoes post-transcriptional modification, including 5' capping, splicing, and the addition of a...

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Related Experiment Video

Updated: Jun 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Multiple Functional Variants in cis Modulate PDYN Expression.

Courtney C Babbitt1, Jesse S Silverman, Ralph Haygood

  • 1Institute for Genome Sciences & Policy, Duke University, USA. courtney.babbitt@duke.edu

Molecular Biology and Evolution
|November 14, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variations in the prodynorphin gene

Related Experiment Videos

Last Updated: Jun 18, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Area of Science:

  • Human Genetics
  • Evolutionary Biology
  • Molecular Biology

Background:

  • Understanding genetic variation in cis-regulatory regions is crucial for human genetics and evolution.
  • The prodynorphin gene, encoding an endogenous opioid precursor, has roles in cognition and disease.
  • Balancing selection in human populations acts on cis-regulatory regions.

Purpose of the Study:

  • To functionally characterize segregating genetic variation within the cis-regulatory region of the prodynorphin gene.
  • To examine associations between polymorphisms and gene expression in vivo and in vitro.
  • To understand the impact of genetic variation on gene regulation in different human populations.

Main Methods:

  • Fine-scale functional analysis of genetic variation.
  • Association studies between polymorphisms and gene expression.
  • In vivo and in vitro experimental approaches.

Main Results:

  • Five polymorphisms in the prodynorphin 5' flanking region were identified to affect transcript abundance.
  • These functional variants include a repeat, two microsatellites, and two single nucleotide polymorphisms.
  • Variant impact on transcription varied by brain region, sex, and cell type, indicating genotype-environment interactions.
  • Non-additive effects of variants suggest epistatic interactions.

Conclusions:

  • Genetic variation within cis-regulatory regions exhibits complex relationships with expression traits.
  • Cell type and biological context are critical for interpreting the functional consequences of genetic variation.
  • Further functional scrutiny of natural genetic variation in cis-regulatory regions is essential.