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Related Experiment Videos

X-inactivation patterns in human embryonic and extra-embryonic tissues.

S-M Zeng1, J Yankowitz

  • 1Department of Obstetrics and Gynecology, University of Iowa College of Medicine, Iowa City 52242, USA.

Placenta
|February 5, 2003
PubMed
Summary

Human embryonic and extra-embryonic tissues show random and skewed X chromosome inactivation (XCI). Skewed XCI is more common in extra-embryonic tissues but marked skewing is rare, suggesting it may not impact normal human placentation.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Epigenetics

Background:

  • X chromosome inactivation (XCI) is crucial for dosage compensation in female mammals.
  • While mice exhibit skewed XCI in extraembryonic tissues, human placental XCI patterns remain debated.
  • Understanding XCI in human development is vital for reproductive health.

Purpose of the Study:

  • To investigate XCI patterns in human embryonic and extra-embryonic tissues.
  • To determine if skewed XCI is prevalent in human placentae and fetal tissues.
  • To clarify the role of XCI in normal human placentation.

Main Methods:

  • Collection of first and early second-trimester human placental and fetal tissues.
  • Isolation of cytotrophoblasts from placental samples.

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  • Analysis of androgen receptor (HAR) methylation patterns to determine XCI status in female samples.
  • Main Results:

    • Among 55 heterozygous females, 37 showed random XCI and 18 showed skewed XCI.
    • Skewed XCI was significantly more frequent in extra-embryonic tissues compared to embryonic tissues (P=0.022).
    • Markedly skewed XCI was uncommon, observed in only one cytotrophoblast sample, one liver, and one intestine sample.

    Conclusions:

    • Both random and skewed XCI patterns are present in human embryonic and extra-embryonic tissues.
    • Extra-embryonic tissues exhibit a higher incidence of skewed XCI, though marked skewing is rare.
    • Skewed XCI likely does not play a significant role in normal human placentation.