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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”.
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”.
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism

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Related Experiment Video

Updated: May 17, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Variants affecting exon skipping contribute to complex traits.

Younghee Lee1, Eric R Gamazon, Ellen Rebman

  • 1Department of Medicine, The University of Chicago, Chicago, IL, USA. younghee@uchicago.edu

Plos Genetics
|November 8, 2012
PubMed
Summary
This summary is machine-generated.

Genetic variants impacting alternative splicing, particularly single nucleotide polymorphisms (SNPs), are linked to complex human diseases. This study validates in silico predictions and reveals their role in disease etiology and transcript variability.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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Last Updated: May 17, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Genetics
  • Molecular Biology
  • Bioinformatics

Background:

  • DNA variants affecting alternative splicing are known risk alleles for Mendelian diseases.
  • Their contribution to complex traits, with low individual variant odds ratios, is understudied.
  • Common human diseases often have complex genetic etiologies.

Purpose of the Study:

  • To discover and characterize the role of alternative splicing variants in the genetic etiology of complex traits.
  • To investigate if single nucleotide polymorphisms (SNPs) in splicing regulatory elements can be identified in silico.
  • To determine if these variants contribute to complex disease risk and inter-individual transcript ratio variability.

Main Methods:

  • In silico characterization of single nucleotide polymorphisms (SNPs) in splicing regulatory elements.
  • High-throughput expression profiling to validate in silico predictions of skipped exons.
  • Experimental characterization of intronic genetic variations' role in alternative splicing.

Main Results:

  • In silico predictions of variants affecting exon skipping were experimentally validated.
  • Intronic SNPs were shown to act as genetic regulators within splicing regulatory elements.
  • SNPs predicted to affect exon skipping are enriched among those associated with complex human traits.

Conclusions:

  • Variants affecting alternative splicing, particularly intronic SNPs, play a significant role in the genetic etiology of complex human diseases.
  • These splicing variants contribute to inter-individual variability in alternative transcript ratios.
  • The study provides a framework for identifying and characterizing splicing variants in complex trait research.