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(American Journal of Pathology. 1999;154:635-647.)
© 1999 American Society for Investigative Pathology

Review

Genomic Imprinting: Implications for Human Disease

J. Greg Falls* , David J. Pulford*{dagger} , Andrew A. Wylie*{dagger} and Randy L. Jirtle*

From the Department of Radiation Oncology,* Duke University Medical Center, Durham, North Carolina, and Department of Safety of Medicines,{dagger} Zeneca Pharmaceuticals, Ltd., Cheshire, United Kingdom

Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at http://www.geneimprint.com.




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