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Related Concept Videos

Dosage Compensation02:50

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In animals, gender is determined by the number and type of sex chromosome. For example, human females have two X chromosomes, and males have one X and one Y chromosome, whereas C.elegans with one X chromosome is a male, and the one with two X chromosomes is a hermaphrodite.
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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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Dosage compensation in mammals.

Neil Brockdorff1, Bryan M Turner2

  • 1Department of Biochemistry, University of Oxford Oxford OX1 3QU, United Kingdom.

Cold Spring Harbor Perspectives in Biology
|March 4, 2015
PubMed
Summary

Mammalian dosage compensation balances gene expression between sexes. Females silence one X chromosome, while both sexes up-regulate genes on the single active X chromosome for survival.

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Area of Science:

  • Genetics
  • Epigenetics
  • Mammalian Biology

Background:

  • Sex chromosomes differ significantly between mammalian males (XY) and females (XX).
  • Gene expression imbalance due to X and Y chromosome differences can be lethal.
  • Dosage compensation mechanisms are essential for resolving sex-specific gene expression disparities.

Purpose of the Study:

  • To investigate the intricate mechanisms of mammalian dosage compensation.
  • To understand how gene expression is regulated across sex chromosomes.
  • To explore the role of epigenetic regulation in maintaining cellular function.

Main Methods:

  • Analysis of X chromosome gene expression patterns in males and females.
  • Investigation of gene silencing and up-regulation processes.
  • Examination of epigenetic modifications involved in X-inactivation and compensation.

Main Results:

  • Females silence one X chromosome early in development.
  • Both sexes achieve balanced gene expression by up-regulating genes on the single active X chromosome.
  • This complex regulatory system ensures survival and proper development.

Conclusions:

  • Mammalian dosage compensation is a sophisticated epigenetic process.
  • The system highlights the dynamic regulation of gene expression based on chromosomal content.
  • Further research into these mechanisms offers insights into epigenetic regulation.