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PARENTAL IMPRINTING AND HUMAN DISEASE

1 Dec 1996

Abstract excerpt

Parental imprinting is a process that results in allele-specific differences in transcription, DNA methylation, and DNA replication timing. Imprinting plays an important role in development, and its deregulation can cause certain defined disease states. Absence of a paternal contribution to chromosome 15q11-q13, due to hemizygous deletion or uniparental disomy, results in the Prader-Willi syndrome. The absence of...

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PMID: 8982453
DOI: 10.1146/annurev.genet.30.1.173

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