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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...

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.

Meiosis I

Meiosis I

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...

Meiosis I

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

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...

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Disorders Caused by Genetic Mosaicism.

Ute Moog¹, Ute Felbor, Cristina Has

¹Institute of Human Genetics. University Hospital Heidelberg, Heidelberg; Institute of Human Genetics, University of Greifswald and Interfaculty Institute for Genetics and Functional Genomics, Greifswald University, Greifswald; Department of Dermatology and Venereology, University Medical Center Freiburg, Albert-Ludwigs-Universität Freiburg, Freiburg; genetikum®, Genetische Beratung und Diagnostik, Stuttgart.

Deutsches Arzteblatt International

|March 18, 2020

Summary

This summary is machine-generated.

Genetic mosaic diseases, caused by postzygotic mutations, affect the skin and brain. Identifying these mutations aids diagnosis and reassures parents about recurrence risks.

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Area of Science:

Genetics
Developmental Biology
Pathology

Background:

Genetic mosaics result from postzygotic mutations, leading to various disorders.
Neurocutaneous diseases and syndromal developmental disorders are frequently associated with mosaicism.
Some mosaic conditions predispose individuals to tumor development.

Purpose of the Study:

To provide an overview of selected mosaic diseases.
To highlight the role of postzygotic mutations in disease pathogenesis.
To discuss diagnostic approaches and implications for genetic counseling.

Main Methods:

Literature review focusing on asymmetric growth disturbances, focal brain malformations, mosaic RASopathies, and vascular malformations.
Selective search in PubMed, emphasizing recent high-ranking journal articles.
Analysis of publications detailing the impact of postzygotic mutations.

Main Results:

Postzygotic mutation identification has refined disease classification and understanding of pathogenesis.
Next-generation sequencing (NGS) enables detection of low-grade mosaics, often in affected tissues like skin.
Mosaic diseases commonly present with skin and brain abnormalities, facial dysmorphism, asymmetrical growth, and vascular malformations.

Conclusions:

Consider mosaic disease in patients with asymmetrical growth, focal neuronal migration issues, vascular malformations, or linear skin lesions.
Confirming a postzygotic mutation alleviates parental concerns regarding recurrence risk.
Accurate classification is crucial for targeted therapies, such as for PIK3CA-related overgrowth spectrum (PROS) disorder.