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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Epigenetic Regulation01:37

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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.
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Genomic Imprinting and Inheritance02:30

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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.
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Gene-Environment Interactions01:20

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Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
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Methylated DNA Immunoprecipitation
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Epigenetics and Human Disease.

Huda Y Zoghbi1, Arthur L Beaudet2

  • 1Howard Hughes Medical Institute, Baylor College of Medicine, and Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.

Cold Spring Harbor Perspectives in Biology
|February 3, 2016
PubMed
Summary
This summary is machine-generated.

Human diseases are increasingly linked to epigenetic deregulation, including DNA methylation changes and mutations in chromatin-regulating proteins. Understanding these genetic causes is crucial for advancing medicine.

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Area of Science:

  • Genetics
  • Epigenetics
  • Molecular Biology

Background:

  • Genetic causes of human disorders are rapidly being identified.
  • A significant subset involves epigenetic alterations or mutations in chromatin-modulating proteins.
  • Epigenetic deregulation is a recognized contributor to human disease.

Purpose of the Study:

  • To review research on human diseases arising from epigenetic deregulation.
  • To highlight the roles of DNA methylation and epigenetic modifiers in disease pathogenesis.

Main Methods:

  • Review of scientific literature on genetic causes of human disorders.
  • Focus on studies investigating epigenetic mechanisms and chromatin regulation in disease.

Main Results:

  • Direct epigenetic mark changes, like DNA methylation, can cause disease, particularly affecting imprinted genes.
  • Mutations in epigenetic modifiers can lead to trans or cis effects, altering chromatin and causing disease.
  • These findings underscore the link between epigenetics and human pathology.

Conclusions:

  • Epigenetic deregulation represents a key mechanism underlying various human disorders.
  • Further research into epigenetic modifications and modifiers is vital for understanding and treating genetic diseases.