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

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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%...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.

You might also read

Related Articles

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

Sort by
Same author

Acute rapamycin treatment reveals novel mechanisms of behavioral, physiological, and functional dysfunction in a maternal inflammation mouse model of autism and sensory over-responsivity.

bioRxiv : the preprint server for biology·2024
Same author

Polygenic prediction of major depressive disorder and related traits in African ancestries UK Biobank participants.

Molecular psychiatry·2024
Same author

Polygenic prediction of major depressive disorder and related traits in African ancestries UK Biobank participants.

medRxiv : the preprint server for health sciences·2024
Same author

Search for a Nonrelativistic Boson in Two-Body Antimuon Decay.

Physical review letters·2024
Same author

Measurement of Coherent Elastic Neutrino-Nucleus Scattering from Reactor Antineutrinos.

Physical review letters·2022
Same author

Stroke: A retrospective review of the incidence and epidemiology in a South African academic hospital emergency department.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde·2021

Related Experiment Video

Updated: Jun 26, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
07:44

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Published on: May 22, 2020

Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.

C S Loat1, S Curran, C M Lewis

  • 1Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, United Kingdom.

Genes, Brain, and Behavior
|January 8, 2009
PubMed
Summary

The methyl-CpG-binding protein 2 (MECP2) gene may be a predisposing factor for autism spectrum disorders. Genetic analysis revealed a significant association between MECP2 variants and autism, suggesting a potential role in the disorder

More Related Videos

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
14:56

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies

Published on: May 6, 2022

Related Experiment Videos

Last Updated: Jun 26, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
07:44

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

Published on: May 22, 2020

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
14:56

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies

Published on: May 6, 2022

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Molecular Biology

Background:

  • The methyl-CpG-binding protein 2 (MECP2) gene is implicated in Rett syndrome, a disorder with autism-like features.
  • Rare MECP2 mutations have been found in individuals with autism spectrum disorders (ASD).
  • The potential broader role of MECP2 as a predisposing factor in ASD requires investigation.

Purpose of the Study:

  • To investigate the involvement of the MECP2 gene as a predisposing factor in autism spectrum disorders.
  • To analyze polymorphic markers within and flanking the MECP2 gene for association with ASD.

Main Methods:

  • Analysis of microsatellite and single nucleotide polymorphism (SNP) markers spanning the MECP2 gene.
  • Transmission disequilibrium test (TDT) applied to two independent family collections (USA and UK, total 219 families).
  • Statistical analysis including Bonferroni correction for multiple comparisons.

Main Results:

  • A significant association (P = 0.009) was found between a three-marker SNP haplotype of MECP2 and ASD.
  • Association was supported by single markers, including an indel marker in intron 2 (P = 0.001, Bonferroni corrected P = 0.006).
  • Evidence suggests population-level functional variants of MECP2 may increase ASD risk.

Conclusions:

  • The MECP2 gene is a significant candidate predisposing factor for autism spectrum disorders.
  • Specific MECP2 variants may confer an increased risk for developing ASD.
  • Further research in independent samples is warranted to confirm these findings.