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Related Concept Videos

Genomic Imprinting and Inheritance02:30

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...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Epigenetic Regulation01:46

Epigenetic Regulation

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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,...

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Related Experiment Video

Updated: Jun 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Diseases associated with genomic imprinting.

Jon F Wilkins1, Francisco Úbeda

  • 1Santa Fe Institute, Santa Fe, New Mexico, USA.

Progress in Molecular Biology and Translational Science
|April 22, 2011
PubMed
Summary

Genomic imprinting, where gene expression differs by parental origin, is linked to diseases affecting growth, metabolism, and neurodevelopment. Evolutionary conflicts drive these imprinting patterns, influencing disease risk and severity.

Area of Science:

  • Genetics
  • Evolutionary Biology
  • Developmental Biology

Background:

  • Genomic imprinting involves differential expression of maternal and paternal alleles, often through silencing.
  • Imprinted genes are implicated in cancers, growth, metabolism, and neurodevelopmental/psychiatric disorders.
  • Imprinting arises from intragenomic evolutionary conflict, favoring different allele expression strategies.

Purpose of the Study:

  • To review genetic diseases linked to imprinted genes.
  • To frame these diseases within evolutionary pressures on imprinted loci.
  • To explore imprinted gene effects on brain function, cognition, and psychiatric disorders.

Main Methods:

  • Review of genetic and epigenetic defects in imprinted loci.
  • Analysis of disease phenotypes in relation to evolutionary selection pressures.

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Methylated DNA Immunoprecipitation
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Methylated DNA Immunoprecipitation

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Last Updated: Jun 2, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution
13:47

Enhanced Reduced Representation Bisulfite Sequencing for Assessment of DNA Methylation at Base Pair Resolution

Published on: February 24, 2015

Methylated DNA Immunoprecipitation
21:24

Methylated DNA Immunoprecipitation

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  • Examination of evidence for imprinted gene roles in cognition, behavior, and psychiatric disorders.

    • Main Results:

    • Imprinted gene dysfunction causes diseases affecting growth and feeding behaviors, explained by asymmetric selection.
    • Evidence suggests imprinted genes influence adult cognition and behavior.
    • Imprinted genes may play a role in the etiology of major psychiatric disorders.

    Conclusions:

    • Genomic imprinting, driven by evolutionary conflict, underlies various genetic diseases.
    • Understanding imprinting's evolutionary origins aids in comprehending disease phenotypes.
    • Imprinting may increase the frequency and severity of certain diseases.