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Sex-linked Disorders

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.

X and Y Chromosomes

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...

The Y Chromosome Determines Maleness

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,...

Nondisjunction

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

Nondisjunction

Nondisjunction

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 sister...

Nondisjunction

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

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Related Experiment Video

Updated: May 22, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

X chromosomal mutations and spermatogenic failure.

Katrien Stouffs¹, Willy Lissens

¹Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium. katrien.stouffs@uzbrussel.be

Biochimica Et Biophysica Acta

|May 29, 2012

Summary

This summary is machine-generated.

This review explores X-linked genes

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Area of Science:

Genetics and Reproductive Biology

Background:

The X and Y chromosomes are crucial for male germ cell development, with unique genes expressed during spermatogenesis.
While the Y chromosome's role in male infertility is known, X-linked genes' impact remains less understood.
Sex chromosomes are of interest for studying spermatogenesis defects due to their unique roles and single-copy presence in males.

Purpose of the Study:

To review current knowledge on X-linked genes potentially involved in spermatogenesis in mice and humans.
To summarize findings from X-linked gene knockout mouse models and human studies related to male infertility.
To discuss emerging research areas like miRNA analysis, GWAS, and array CGH in the context of X-linked genes and reproductive failure.

Main Methods:

Literature review of studies on X-linked genes and spermatogenesis.
Analysis of data from mouse knockout models and human genetic studies.
Discussion of advanced techniques including miRNA analysis, Genome Wide Association Studies (GWAS), and array comparative genomic hybridization (CGH).

Main Results:

Identifies key X-linked genes implicated in male spermatogenesis.
Highlights the impact of specific X-linked gene alterations on fertility in mouse models.
Summarizes human genetic findings related to X-linked genes and male infertility.

Conclusions:

X-linked genes play a significant, though often underappreciated, role in male fertility.
Further research into X-linked gene function and expression is critical for understanding male reproductive failure.
Advanced genomic techniques offer new avenues for investigating the genetic basis of male infertility.