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Related Concept Videos

The Ratio of X Chromosome to Autosomes02:45

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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.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
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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 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”.
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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.
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Sex differences in the human peripheral blood transcriptome.

Rick Jansen1, Sandra Batista, Andrew I Brooks

  • 1Department of Psychiatry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands. ri.jansen@ggzingeest.nl.

BMC Genomics
|January 21, 2014
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Summary
This summary is machine-generated.

Sex differences in gene expression are widespread, particularly in the human transcriptome. This extensive sex-bias in gene expression may explain variations in common disease prevalence between males and females.

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Area of Science:

  • Genomics
  • Transcriptomics
  • Human Biology

Background:

  • While human genomes show minimal sex-specific genes on sex chromosomes, the transcriptome exhibits significant sex-based differences.
  • Understanding these sex-biased gene expression patterns is crucial for elucidating the molecular underpinnings of sex-specific traits and diseases.

Purpose of the Study:

  • To comprehensively characterize sex differences in the human peripheral blood transcriptome.
  • To identify genes with sex-biased expression and explore their functional enrichment and regulation.

Main Methods:

  • Analysis of microarray data from 5,241 individuals.
  • Consideration of factors like menopause status and hormonal contraceptive use.
  • Investigation of gene ontology (GO) categories, disease associations, and hormonal regulation.

Main Results:

  • Identified 582 autosomal genes with sex-specific expression, with 57.7% upregulated in females (female-biased genes).
  • Female-biased genes were enriched in immune system categories, rheumatoid arthritis, and estrogen-regulated genes.
  • Male-biased genes showed enrichment for renal cancer-associated genes. Sex differences were modulated by menopause and hormonal contraceptive use, highlighting estrogen's regulatory role.

Conclusions:

  • Sex bias in gene expression is extensive and pervasive across the human transcriptome.
  • These widespread gene expression differences likely contribute to observed sex disparities in the prevalence of common diseases.