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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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Genomic imprinting in the human placenta.

David Monk1

  • 1Imprinting and Cancer Group, Cancer Epigenetic and Biology Program, Institut d'Investigació Biomedica de Bellvitge, Hospital Duran i Reynals, Barcelona, Spain.

American Journal of Obstetrics and Gynecology
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Summary

Genomic imprinting in the placenta, a key organ for fetal growth, shows species-specific epigenetic differences. Aberrant imprinting of placental genes may serve as biomarkers for pregnancy complications.

Keywords:
DNA methylationMiRNAassisted reproductive technologychromosome cluster 19differentially methylated regionsepigeneticsfetal growthimprintingintrauterine growth restrictionmicroRNAplacenta specific expressed genespreeclampsia

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Area of Science:

  • Reproductive biology
  • Epigenetics
  • Genomics

Background:

  • The placenta, crucial for fetal development, possesses a unique epigenetic profile.
  • Disturbances in placental epigenetic regulation are linked to adverse pregnancy outcomes.
  • Genomic imprinting, parent-of-origin-dependent gene expression, is tightly regulated in the placenta.

Purpose of the Study:

  • To review species-specific differences in imprinted gene allelic expression and epigenetic profiles.
  • To explore the evolutionary adaptation of genomic imprinting in the placenta.
  • To examine the role of placental imprinting in fetal growth and pregnancy complications.

Main Methods:

  • Comparative analysis of imprinted gene expression and epigenetic profiles across species.
  • Review of methylation profiling data in human and mouse placentas.
  • Examination of developmental dynamics of placental imprinting.

Main Results:

  • Placental imprinted genes in mice with repressive histone signatures are often not imprinted in humans.
  • Human placental methylation profiling reveals species-specific imprinted regions not conserved in mice.
  • Imprinted genes are implicated in regulating parental resource allocation and fetal growth.

Conclusions:

  • Genomic imprinting in the placenta exhibits significant interspecies variation, reflecting evolutionary adaptations.
  • Aberrant imprinting of placental genes is associated with intrauterine growth restriction and other pregnancy complications.
  • Placental imprinted genes hold potential as biomarkers for early diagnosis of at-risk pregnancies.