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Related Concept Videos

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”.
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
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.
Mutations01:39

Mutations

Overview
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Dirk Roos1, Douglas B Kuhns, Anne Maddalena

  • 1Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands. d.roos@sanquin.nl

Blood Cells, Molecules & Diseases
|August 24, 2010
PubMed
Summary

This study catalogs mutations in the CYBB gene, the cause of X-linked Chronic Granulomatous Disease (CGD). Identifying these genetic variations aids in diagnosing this rare immunodeficiency and distinguishing disease-causing mutations from benign polymorphisms.

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Published on: October 3, 2019

Area of Science:

  • Immunology
  • Genetics

Background:

  • Chronic Granulomatous Disease (CGD) is a primary immunodeficiency affecting approximately 1 in 250,000 individuals.
  • It results from impaired superoxide production by the leukocyte enzyme NADPH oxidase, crucial for microbial killing.
  • The gp91-phox (Nox2) subunit, encoded by the CYBB gene on the X chromosome, is a key component of this enzyme.

Purpose of the Study:

  • To compile a comprehensive list of all identified mutations within the CYBB gene associated with X-linked CGD.
  • To document benign polymorphisms in the CYBB gene to aid in the accurate identification of pathogenic mutations.

Main Methods:

  • Systematic review and compilation of genetic data from patients with X-linked CGD.
  • Analysis of CYBB gene sequences to identify mutations and polymorphisms.

Main Results:

  • Mutations in the CYBB gene are responsible for approximately 70% of all CGD cases.
  • The article provides a detailed catalog of these disease-causing CYBB mutations.
  • A list of apparently benign CYBB polymorphisms is also presented.

Conclusions:

  • This curated list of CYBB mutations and polymorphisms serves as a valuable resource for diagnosing X-linked CGD.
  • Accurate genetic characterization is essential for understanding disease mechanisms and facilitating future diagnostic efforts.