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Genomic imprinting in mammals

M S Bartolomei1, S M Tilghman

  • 1Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104, USA.

Annual Review of Genetics
|January 1, 1997
PubMed
Summary

Genomic imprinting silences some autosomal genes from one parent, making the organism hemizygous. This process, involving DNA methylation, is crucial for regulating fetal growth.

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Area of Science:

  • Genetics
  • Epigenetics
  • Developmental Biology

Background:

  • Mammalian genomes contain autosomal genes exhibiting genomic imprinting, where expression is restricted to either the maternal or paternal allele.
  • This parent-of-origin-specific gene expression results in functional hemizygosity for these imprinted genes.
  • Currently, 19 imprinted genes are identified, with 5 maternally expressed and 14 paternally expressed.

Purpose of the Study:

  • To investigate the mechanisms and implications of genomic imprinting in mammals.
  • To understand the role of allele-specific methylation in maintaining imprinting.
  • To explore the proposed function of imprinting in regulating fetal growth.

Main Methods:

  • Analysis of autosomal gene expression patterns in mammals.
  • Investigation of allele-specific DNA methylation at CpG residues.
  • Review of established imprinted genes and their parental origin of expression.

Main Results:

  • Genomic imprinting leads to functional hemizygosity for specific autosomal genes.
  • Allele-specific methylation, established during germline development, is critical for imprinting maintenance in somatic cells.
  • Nineteen imprinted genes have been identified, with a known parental bias in expression.

Conclusions:

  • Genomic imprinting is a key epigenetic mechanism in mammals.
  • DNA methylation plays a vital role in establishing and maintaining imprinting.
  • Imprinted genes are thought to be important regulators of fetal growth, though their exact functions are still debated.

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