Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Position-effect Variegation02:32

Position-effect Variegation

In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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,...
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%...
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...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Genetic architecture of the murine serum metabolome reveals carboxyl esterases as master regulators of circulating fatty acid metabolism.

bioRxiv : the preprint server for biology·2026
Same author

Shared genetic architecture of reading and attention disorders using genomic structural equation modeling.

NPJ science of learning·2026
Same author

Integrated analysis of blood donor metabolic phenotypes and genetic traits on red blood cell transfusion effectiveness.

Blood. Red cells & iron·2026
Same author

The red blood cell proteome and interactome identify a Band 3-BLVRB axis regulating hypoxic metabolic adaptation.

Blood·2026
Same author

GPX4 regulates lipid peroxidation and ferroptosis of stored red blood cells.

Blood. Red cells & iron·2026
Same author

Rapid genomic sequencing in critically ill infants: opportunity, limitations, and the unresolved role of biochemical genetics.

Pediatric research·2026
Same journal

Was the Minnesota Transracial Adoption Study Abhorrent or Just Controversial?

Behavior genetics·2026
Same journal

Direct and Indirect Genetic Effects on Child ADHD Traits in Early and Mid-Childhood: Trio Genome-Wide Complex Trait Analyses in a Large Norwegian Birth Registry Cohort.

Behavior genetics·2026
Same journal

Behavioral Disinhibition Model of Addiction: A Review and New Findings from the Minnesota Twin Family Study.

Behavior genetics·2026
Same journal

Tracing the Right Path: Determination of Large Pedigree Segmentation and Relatedness.

Behavior genetics·2026
Same journal

Genetic and Environmental Associations Between Processing Speed and Executive Functions Across Adolescence and Established Adulthood.

Behavior genetics·2026
Same journal

Heritability of Functional Literacy: Evidence from a Classical Twin Design.

Behavior genetics·2026
See all related articles

Related Experiment Video

Updated: Jun 7, 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

A dyslexia-associated variant in DCDC2 changes gene expression.

Haiying Meng1, Natalie R Powers, Ling Tang

  • 1Department of Pediatrics, Yale Child Health Research Center, Yale University School of Medicine, 464 Congress Avenue, New Haven, CT 06520-8081, USA.

Behavior Genetics
|November 3, 2010
PubMed
Summary
This summary is machine-generated.

A specific DNA region (BV677278) near the DCDC2 gene influences gene expression, potentially explaining its link to reading disability (RD) or dyslexia.

More Related Videos

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Related Experiment Videos

Last Updated: Jun 7, 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

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Neurogenetics
  • Molecular Biology

Background:

  • Reading disability (RD), or dyslexia, is a common neurogenetic disorder.
  • The DYX2 locus on chromosome 6p21.3 is associated with RD, with genes KIAA0319 and DCDC2 implicated.
  • A previously identified deletion and a short tandem repeat (STR) within DCDC2 intron 2 (BV677278) are strongly associated with RD.

Purpose of the Study:

  • To investigate if BV677278 acts as a regulatory element for the DCDC2 gene.
  • To determine the functional role of different BV677278 alleles in DCDC2 gene expression.

Main Methods:

  • Electrophoretic mobility shift assays (EMSA) to assess protein binding.
  • Luciferase reporter assays to measure DCDC2 enhancer activity.
  • Analysis of nuclear proteins from human brain tissue.

Main Results:

  • Oligonucleotide probes from the BV677278 STR region bind to nuclear proteins from human brain.
  • Different alleles of the BV677278 STR exhibit varying DCDC2-specific enhancer activities.
  • Five alleles demonstrated strong enhancer activity, increasing DCDC2 gene expression, while one allele showed no such activity.

Conclusions:

  • The BV677278 region functions as a DCDC2 gene regulator.
  • The association of BV677278 with RD is likely due to its role in modulating DCDC2 expression levels.
  • This finding provides insight into the genetic mechanisms underlying reading disability.