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

Nondisjunction01:21

Nondisjunction

3.9K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
3.9K
Meiosis I01:49

Meiosis I

193.9K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
193.9K
Cell Specific Gene Expression01:58

Cell Specific Gene Expression

13.7K
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...
13.7K
Chromatin Position Affects Gene Expression02:35

Chromatin Position Affects Gene Expression

23.4K
Chromatin is the massive complex of DNA and proteins packaged inside the nucleus. The complexity of chromatin folding and how it is packaged inside the nucleus greatly influences  access to genetic information. Generally, the nucleus' periphery is considered transcriptionally repressive, while the cell's interior is considered a transcriptionally active area. 
Topologically Associated Domains (TADs)
The 3-dimensional positioning of chromatin in the nucleus influences the...
23.4K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

34.7K
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...
34.7K
Chromatin Modification in iPS Cells01:32

Chromatin Modification in iPS Cells

1.7K
Chromatin modification alters gene expression; therefore, scientists can add histone-modifying enzymes, histone variants, and chromatin remodeling complexes to somatic cells to aid reprogramming into pluripotent stem (iPS) cells.
Compact chromatin makes reprogramming difficult. Enzymes, such as histone demethylases and acetyltransferases, are often added during reprogramming to loosen the chromatin, making the DNA more accessible to transcription factors. Molecules that inhibit histone...
1.7K

You might also read

Related Articles

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

Sort by
Same author

Mapping the genetic architecture of human cortical expansion and its links to neuropsychiatric disorders.

bioRxiv : the preprint server for biology·2026
Same author

Regional sex differences in human cortical anatomy vary in their morphometric bases and overlap with sex chromosomal and gonadal influences.

Nature communications·2026
Same author

Gene × sex interactions on cognition in the Philadelphia neurodevelopmental cohort.

Biology of sex differences·2026
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

Allele-specific expression in the brain links genetic risk and cortical thinning in psychiatric disorders.

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology·2026
Same author

Empowering Youth to Participate in Chemicals Management: A Youth Perspective.

Environmental science & technology·2026

Related Experiment Video

Updated: Jul 30, 2025

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

9.0K

Aneuploidy effects on human gene expression across three cell types.

Siyuan Liu1, Nirmala Akula2, Paul K Reardon1

  • 1Section on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, Bethesda, MD 20892.

Proceedings of the National Academy of Sciences of the United States of America
|May 16, 2023
PubMed
Summary

Sex chromosome aneuploidies (SCAs) impact gene expression differently across cell types. Cis-acting gene effects are reproducible in lymphoblastoid cell lines (LCLs), fibroblasts, and neuronal cells, unlike trans-acting effects.

Keywords:
X-Y gametologsX-chromosome inactivationdosage compensationsex chromosome aneuploidytrisomy 21

More Related Videos

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes
05:22

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes

Published on: April 13, 2018

10.5K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.5K

Related Experiment Videos

Last Updated: Jul 30, 2025

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

9.0K
Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes
05:22

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes

Published on: April 13, 2018

10.5K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.5K

Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Developmental Biology

Background:

  • Aneuploidy syndromes affect multiple organ systems, but tissue-specific effects, especially comparing peripheral and brain tissues, are poorly understood.
  • Sex chromosome aneuploidies (SCAs) provide a model for analyzing dosage effects due to their diverse karyotypes.

Purpose of the Study:

  • To investigate the transcriptomic effects of chromosome X, Y, and 21 aneuploidies across different human cell types.
  • To compare the reproducibility of cis- and trans-acting gene expression effects of SCAs in lymphoblastoid cell lines (LCLs), fibroblasts (FCLs), and induced pluripotent stem cell-derived neuronal cells (iNs).

Main Methods:

  • Analyzed RNA-sequencing data from 197 individuals with varying sex chromosome dosages (SCDs) in LCLs.
  • Validated theoretical models of SCD sensitivity and identified 41 dosage-sensitive genes acting in cis.
  • Compared the preservation of cis- and trans-acting SCA effects across LCLs, FCLs, and iNs using complementary analyses and additional datasets.

Main Results:

  • Identified 41 genes on the X and Y chromosomes that are obligately dosage-sensitive to SCAs and act in cis.
  • Demonstrated that cis-acting SCA effects are largely preserved across LCLs, FCLs, and iNs.
  • Showed that trans-acting SCA effects on autosomal gene expression are mostly not preserved across these cell types, a finding also observed in trisomy 21 cell lines.

Conclusions:

  • Expanded understanding of how aneuploidies of chromosomes X, Y, and 21 influence human gene expression.
  • Suggests that LCLs are a suitable model for studying cis-acting aneuploidy effects in less accessible cell types like brain cells.
  • Highlights the differential conservation of cis- versus trans-acting gene expression changes across cell types in response to aneuploidy.