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Role of imprinting in abnormal human development

G L Mutter1

  • 1Brigham and Women's Hospital, Department of Pathology, Boston, MA 02115, USA. glmutter@bics.bwh.harvard.edu

Mutation Research
|January 22, 1998
PubMed
Summary

Imprinted genes, crucial for normal development, can cause pregnancy complications and tumors when their expression is anomalous. Understanding genomic imprinting is key to diagnosing and treating these conditions.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Reproductive Medicine

Background:

  • Parental-specific gene expression (imprinting) plays a role in pregnancy development.
  • Aberrant imprinting is linked to various pregnancy anomalies, including malformations, delayed/lost gestations, and neoplastic processes.
  • Imprinted gene expression depends on allele number, structural integrity, and parental origin.

Purpose of the Study:

  • To explore the role of genomic imprinting in anomalous gestations.
  • To investigate how uniparental disomy and loss of imprinting contribute to developmental disorders and tumors.
  • To highlight the impact of parental origin on imprinted gene function and associated phenotypes.

Main Methods:

  • Review of existing literature on genomic imprinting and its clinical manifestations.
  • Analysis of cases involving uniparental disomy (parthenogenetic and androgenetic gestations).
  • Examination of phenotypes associated with hemizygous mutations/deletions of imprinted genes and loss of imprinting.

Main Results:

  • Uniparental disomy can lead to arrested developmental programs like teratomas and hydatidiform moles.
  • Imprinted gene defects are associated with developmental delay, gestational loss, and distinct syndromes (e.g., Prader-Willi, Angelman).
  • Loss of imprinting can increase the risk of developmental tumors, including Wilms' tumor and choriocarcinoma.

Conclusions:

  • Genomic imprinting is critical for normal gestation and development.
  • Disruptions in imprinting, including uniparental disomy and loss of imprinting, are significant causes of pregnancy anomalies and tumors.
  • Parental origin of genetic contributions critically influences the outcome of imprinted gene dysfunction.

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