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

X-Inactivation01:58

X-Inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
X-inactivation01:58

X-inactivation

The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
Inheritance of Chromatin Structures03:17

Inheritance of Chromatin Structures

Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying DNA...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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.
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”.

You might also read

Related Articles

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

Sort by
Same author

Embryo-scale Visual Cell Sorting reveals a conserved transcriptomic signature of nucleolar size linked to proteostasis.

bioRxiv : the preprint server for biology·2026
Same author

Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.

bioRxiv : the preprint server for biology·2026
Same author

DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome.

Molecular psychiatry·2025
Same author

Sceptic: pseudotime analysis for time-series single-cell sequencing and imaging data.

Genome biology·2025
Same author

Slow awakening of the silent X chromosome in female primordial germ cells.

Nature structural & molecular biology·2025
Same author

CTCF-mediated insulation and chromatin environment modulate Car5b escape from X inactivation.

BMC biology·2025

Related Experiment Video

Updated: Jun 1, 2026

Combined DNA-RNA Fluorescent In situ Hybridization (FISH) to Study X Chromosome Inactivation in Differentiated Female Mouse Embryonic Stem Cells
15:54

Combined DNA-RNA Fluorescent In situ Hybridization (FISH) to Study X Chromosome Inactivation in Differentiated Female Mouse Embryonic Stem Cells

Published on: June 14, 2014

Genes that escape from X inactivation.

Joel B Berletch1, Fan Yang, Jun Xu

  • 1Department of Pathology, University of Washington School of Medicine, Seattle, WA 98195, USA.

Human Genetics
|May 27, 2011
PubMed
Summary

Mammals balance gene dosage by inactivating one female X chromosome. Some X-linked genes escape this process, potentially explaining sex differences and roles in X aneuploidy.

Area of Science:

  • Genetics
  • Genomics
  • Epigenetics

Background:

  • Mammals regulate gene dosage between sexes via X chromosome inactivation (XCI).
  • Despite XCI, some X-linked genes escape silencing, leading to biallelic expression in females.
  • Escape gene expression levels vary, and patterns differ between species and tissues.

Purpose of the Study:

  • Investigate the phenomenon of X-linked gene escape from X chromosome inactivation.
  • Explore the implications of escape genes in mammalian sex differences and X aneuploidy phenotypes.

Main Methods:

  • Analysis of gene expression patterns across different tissues.
  • Comparative genomics to identify species-specific escape gene distribution.
  • Chromatin modification studies to understand protection mechanisms for escape genes.

More Related Videos

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

Quick Fluorescent In Situ Hybridization Protocol for Xist RNA Combined with Immunofluorescence of Histone Modification in X-chromosome Inactivation
12:42

Quick Fluorescent In Situ Hybridization Protocol for Xist RNA Combined with Immunofluorescence of Histone Modification in X-chromosome Inactivation

Published on: November 26, 2014

Related Experiment Videos

Last Updated: Jun 1, 2026

Combined DNA-RNA Fluorescent In situ Hybridization (FISH) to Study X Chromosome Inactivation in Differentiated Female Mouse Embryonic Stem Cells
15:54

Combined DNA-RNA Fluorescent In situ Hybridization (FISH) to Study X Chromosome Inactivation in Differentiated Female Mouse Embryonic Stem Cells

Published on: June 14, 2014

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome
08:27

A Non-random Mouse Model for Pharmacological Reactivation of Mecp2 on the Inactive X Chromosome

Published on: May 22, 2019

Quick Fluorescent In Situ Hybridization Protocol for Xist RNA Combined with Immunofluorescence of Histone Modification in X-chromosome Inactivation
12:42

Quick Fluorescent In Situ Hybridization Protocol for Xist RNA Combined with Immunofluorescence of Histone Modification in X-chromosome Inactivation

Published on: November 26, 2014

Main Results:

  • Approximately 15% of human X-linked genes and 3% of mouse genes escape XCI.
  • Escape genes exhibit variable expression levels from the inactive X allele.
  • Tissue-specific differences in XCI escape patterns were observed.

Conclusions:

  • Escape genes are protected from XCI-associated repressive chromatin modifications.
  • Differences in escape gene profiles may contribute to the evolution of sex-specific phenotypes.
  • Higher female expression of escape genes suggests potential roles in female biology and X aneuploidy.