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

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
X and Y Chromosomes02:32

X and Y Chromosomes

Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Chromosome Structure02:40

Chromosome Structure

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...
Chromosome Structure02:40

Chromosome Structure

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...

You might also read

Related Articles

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

Sort by
Same author

A Chromosome-Level Genome Assembly and Annotation of the Chinese Porcupine (<i>Hystrix hodgsoni</i>) Reveals the Expansion of Olfactory-Related Gene Families.

Genes·2026
Same author

Mutational signatures of environmental carcinogens in human tissue organoids revealed by duplex sequencing.

Cell reports·2026
Same author

Coming to light: the transcriptional regulatory roles of histone lysine crotonylation in health and disease.

Cellular & molecular biology letters·2026
Same author

Engineering a T7 bacteriophage to attenuate LPS-driven inflammatory responses during bacteriolysis.

Applied and environmental microbiology·2026
Same author

Genomic Analysis and Population Divergence Driven by Geographic Isolation in <i>Neotetracus sinensis</i>.

Ecology and evolution·2026
Same author

Comparative Genomics Provide Insights Into Karyotype Evolution in Vespertilionid Bats (Vespertilionidae, Chiroptera).

Molecular ecology resources·2026

Related Experiment Video

Updated: Jul 5, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Finishing the finished human chromosome 22 sequence.

Charlotte G Cole1, Owen T McCann, John E Collins

  • 1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. cgc@sanger.ac.uk

Genome Biology
|May 15, 2008
PubMed
Summary

Researchers have significantly advanced the human genome sequence by closing gaps in chromosome 22, adding new gene structures. This work highlights the ongoing effort needed to complete the entire human genome sequence.

More Related Videos

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
17:14

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

Published on: December 10, 2012

Mapping Genome-wide Accessible Chromatin in Primary Human T Lymphocytes by ATAC-Seq
09:08

Mapping Genome-wide Accessible Chromatin in Primary Human T Lymphocytes by ATAC-Seq

Published on: November 13, 2017

Related Experiment Videos

Last Updated: Jul 5, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
17:14

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization

Published on: December 10, 2012

Mapping Genome-wide Accessible Chromatin in Primary Human T Lymphocytes by ATAC-Seq
09:08

Mapping Genome-wide Accessible Chromatin in Primary Human T Lymphocytes by ATAC-Seq

Published on: November 13, 2017

Area of Science:

  • Genomics
  • Human Genetics
  • Molecular Biology

Background:

  • The initial human genome sequence, declared complete in 2004, contained 341 gaps, primarily in euchromatic regions.
  • These gaps, though small in percentage, hinder a complete understanding of human genes and regulatory elements.

Purpose of the Study:

  • To address the gaps in the human genome sequence, specifically focusing on chromosome 22.
  • To generate new sequence data and annotate gene structures within these previously unsequenced regions.

Main Methods:

  • Utilized chromosome walking with fosmid and bacterial artificial chromosome (BAC) libraries.
  • Employed whole chromosome shotgun sequencing, comparative genome analysis, and long PCR.
  • Applied these methods to finish 8 of 11 gaps in the chromosome 22 sequence and correct deleted regions.

Main Results:

  • Generated over 1.018 Mb of new sequence, successfully closing 8 gaps in chromosome 22.
  • Annotated 16 new or extended gene structures and one pseudogene.
  • Corrected four regions in the initial sequence containing deletions, adding 126 kb of new sequence.

Conclusions:

  • Significant progress has been made in completing the euchromatic regions of human chromosome 22.
  • The study underscores the substantial remaining work required to close all gaps in the human genome sequence.