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[Genomic imprinting and human pathology. 2]

M Cirillo Silengo1, M Lerone, A Guala

  • 1Istituto di Discipline Pediatriche, Università di Torino, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|September 1, 1995
PubMed
Summary

Genetic imprinting, where genes are expressed based on parental origin, occurs in humans at multiple levels. This phenomenon is linked to developmental disorders and genetic diseases, highlighting its significance in human health.

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Area of Science:

  • Human Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Genetic imprinting is an epigenetic phenomenon where genes are expressed in a parent-of-origin-specific manner.
  • Imprinting occurs at various genomic levels, including the whole genome, chromosome, subchromosomal regions, and single loci.
  • Dysregulation of imprinting is associated with specific human developmental disorders.

Purpose of the Study:

  • To review the importance of genetic imprinting in the context of human genetic diseases.
  • To illustrate how imprinting manifests at different genomic scales.
  • To connect imprinting defects to specific clinical conditions.

Main Methods:

  • Review of existing literature on genetic imprinting in humans.
  • Analysis of imprinting's role in developmental defects (e.g., hydatiform mole, teratoma, triploidy).

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  • Examination of imprinting effects in constitutional aberrations and tumoral tissues (e.g., uniparental disomy, deletion).
  • Evidence synthesis from autosomal dominant genetic diseases linked to imprinting.

    • Main Results:

    • Genetic imprinting is confirmed to occur in humans across genomic, chromosomal, and single-locus levels.
    • Imprinting defects are demonstrably linked to developmental abnormalities such as hydatiform mole, teratoma, and triploidy.
    • Chromosomal imprinting aberrations, including uniparental disomy and deletions, are observed in constitutional and tumoral contexts.
    • An increasing number of autosomal dominant diseases provide evidence for single-gene imprinting effects.

    Conclusions:

    • Genetic imprinting is a crucial epigenetic mechanism in human development and disease.
    • Imprinting defects manifest across various scales, from whole genomes to single genes, leading to diverse pathologies.
    • Understanding imprinting is vital for diagnosing and potentially treating a growing list of human genetic disorders.