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 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...
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”.
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
Dosage Compensation02:50

Dosage Compensation

In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
In addition to sexual development, the X chromosome has genes involved in autosomal functions such as brain development and the immune system. Therefore, males and females with  distinct numbers of X chromosomes will have...

You might also read

Related Articles

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

Sort by
Same author

[Study on the acid hydrolysis, fiber remodeling and bionics mineralization of rat tail tendon collagen type Ⅰ].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2017
Same author

Association between ERCC2 Lys751Gln polymorphism and the risk of pancreatic cancer, especially among Asians: evidence from a meta-analysis.

Oncotarget·2017
Same author

A novel strategy to achieve effective drug delivery: exploit cells as carrier combined with nanoparticles.

Drug delivery·2017
Same author

MDM2 mediates fibroblast activation and renal tubulointerstitial fibrosis via a p53-independent pathway.

American journal of physiology. Renal physiology·2017
Same author

Determination of dosage compensation and comparison of gene expression in a triploid hybrid fish.

BMC genomics·2017
Same author

Involvement of AMPK in regulating the degradation of MAD2B under high glucose in neuronal cells.

Journal of cellular and molecular medicine·2016

Related Experiment Video

Updated: Jul 14, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Testing association for markers on the X chromosome.

Gang Zheng1, Jungnam Joo, Chun Zhang

  • 1Office of Biostatistics Research, National Heart, Lung and Blood Institute, Bethesda, Maryland 20892-7938, USA. zhengg@nhlbi.nih.gov

Genetic Epidemiology
|June 6, 2007
PubMed
Summary

Researchers evaluated X-linked single-nucleotide polymorphisms (SNPs) for disease association. A DIAPH2 gene SNP (rs10521496) showed association with age-related macular degeneration, highlighting the X chromosome

More Related Videos

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Associated Chromosome Trap for Identifying Long-range DNA Interactions
14:49

Associated Chromosome Trap for Identifying Long-range DNA Interactions

Published on: April 23, 2011

Related Experiment Videos

Last Updated: Jul 14, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Associated Chromosome Trap for Identifying Long-range DNA Interactions
14:49

Associated Chromosome Trap for Identifying Long-range DNA Interactions

Published on: April 23, 2011

Area of Science:

  • Genetics and Genomics
  • Statistical Genetics
  • Human Disease Association Studies

Background:

  • Genome-wide association studies (GWAS) extensively analyze autosomal chromosomes for disease associations.
  • The X chromosome, rich in population history and linkage disequilibrium data, remains understudied for disease association.
  • Thousands of single-nucleotide polymorphisms (SNPs) on the X chromosome offer potential for identifying X-linked disease susceptibility.

Purpose of the Study:

  • To compare the performance of various statistical tests for association on the X chromosome.
  • To investigate the impact of Hardy-Weinberg equilibrium deviations on the type I error and power of X-linked association tests.
  • To apply these methods to identify X-linked genetic markers associated with age-related macular degeneration (AMD).

Main Methods:

  • Evaluation of multiple statistical approaches for testing genetic association using X-linked SNPs.
  • Assessment of how deviations from Hardy-Weinberg equilibrium influence the accuracy and power of these association tests.
  • Application of the developed methods to a GWAS dataset focusing on the X chromosome and AMD.

Main Results:

  • The study compared the performance of several statistical tests for X-linked SNP association.
  • Deviations from Hardy-Weinberg equilibrium were analyzed for their effects on test error rates and statistical power.
  • A specific SNP (rs10521496) within the DIAPH2 gene was found to be significantly associated with age-related macular degeneration.

Conclusions:

  • The DIAPH2 gene SNP (rs10521496), previously linked to premature ovarian failure, is associated with age-related macular degeneration.
  • This finding underscores the importance of analyzing the X chromosome in GWAS for complex diseases like AMD.
  • The study provides insights into statistical testing methodologies for X-linked genetic associations.