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

Chromosome Replication02:31

Chromosome Replication

10.6K
Before a cell can divide, it must accurately replicate all of its chromosomes, including the DNA and its associated histone and non-histone proteins.  This process begins at numerous origins of replication during the S phase of the cell cycle in each of a cell’s chromosomes simultaneously. Certain nucleotides can act as origins of replication, but these sequences are not well defined - especially in complex, multi-cellular, eukaryotic species. The length of DNA that spans an origin...
10.6K
Chromosome Structure02:40

Chromosome Structure

26.3K
A functional eukaryotic chromosome must contain three elements: a centromere, telomeres, and numerous origins of replication.
The centromere is a DNA sequence that links sister chromatids. This is also where kinetochores, protein complexes to which spindle microtubules attach, are constructed after the chromosome is replicated. The kinetochores allow the spindle microtubules to move the chromosomes within the cell during cell division.
Telomeres consist of non-coding repetitive nucleotide...
26.3K
Polytene Chromosomes02:04

Polytene Chromosomes

11.0K
Polytene chromosomes are giant interphase chromosomes with several DNA strands placed side by side. They were discovered in the year 1881 by Balbiani in salivary glands, intestine, muscles, malpighian tubules, and hypoderm of larvae Chironomus plumosus. Hence, these are also called "Salivary gland chromosomes." These are found in insects of the order Diptera and Collembola; in certain organs of mammals; and synergids, antipodes of flowering plants. Polytene chromosomes are also...
11.0K
Lampbrush Chromosomes01:51

Lampbrush Chromosomes

8.7K
In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
8.7K
Genomics02:02

Genomics

40.4K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
40.4K
Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

60.0K
In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
60.0K

You might also read

Related Articles

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

Sort by
Same author

Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants.

bioRxiv : the preprint server for biology·2026
Same author

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

bioRxiv : the preprint server for biology·2026
Same author

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.

American journal of medical genetics. Part A·2026
Same author

Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing.

Genome research·2026
Same author

Familial medullary thyroid carcinoma secondary to an <i>SLC30A9</i> intragenic deletion and translation reinitiation.

medRxiv : the preprint server for health sciences·2026
Same author

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development.

Biology of sex differences·2026

Related Experiment Video

Updated: Jan 29, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
12:32

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

2.6K

Complex human chromosomal and genomic rearrangements.

Feng Zhang1, Claudia M B Carvalho, James R Lupski

  • 1Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Houston, TX 77030, USA.

Trends in Genetics : TIG
|June 30, 2009
PubMed
Summary

Copy number variations (CNVs) are key genetic differences in humans. Advanced analysis reveals complex genomic rearrangements, often driven by DNA replication mechanisms like FoSTeS and MMBIR, are crucial for understanding these variations.

More Related Videos

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
06:25

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

19.4K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

39.2K

Related Experiment Videos

Last Updated: Jan 29, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
12:32

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

2.6K
Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
06:25

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

19.4K
Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

39.2K

Area of Science:

  • Human Genetics
  • Genomics
  • Molecular Biology

Background:

  • Copy number variation (CNV) represents significant genetic diversity in humans.
  • CNVs can manifest as benign polymorphisms or cause clinical conditions, including genomic disorders and complex traits.
  • Genomic rearrangements, ranging from simple deletions/duplications to complex forms, underlie CNVs.

Purpose of the Study:

  • To elucidate the mechanisms behind complex chromosomal rearrangements (CCRs).
  • To highlight the role of advanced genomic analyses in understanding complex genomic rearrangements.
  • To investigate the contribution of DNA replication-based mechanisms to complex genomic rearrangements.

Main Methods:

  • High-resolution human genome analyses.
  • Review of proposed mechanisms for complex genomic rearrangement formation.
  • Comparative analysis of genomic rearrangement types.

Main Results:

  • Complex genomic rearrangements constitute a substantial portion of non-recurrent rearrangements.
  • Mechanisms such as fork stalling and template switching (FoSTeS) and microhomology-mediated break-induced replication (MMBIR) are implicated.
  • These replication-based mechanisms are likely responsible for generating complex chromosomal rearrangements.

Conclusions:

  • Recent technological advancements have improved the detection and understanding of complex genomic rearrangements.
  • DNA replication-based mechanisms are critical for generating complex genomic rearrangements and CCRs.
  • Further research into these mechanisms is essential for understanding human genetic variation and associated diseases.