Epigenetic inheritance associated with human chromosome 14.

Within the last decade, there has been sufficient evidence to support the association of epigenetic inheritance or genomic imprinting on human chromosome 14. This has been achieved with studies of imprinting on both human chromosome 14 and mouse chromosome 12, which has the largest homology to human chromosome 14. Initial studies with mouse chromosome 12 aberrations suggested that specific phenotypes due to genomic imprinting were confined to the maternal or paternal mouse chromosome 12, depending on the parent from which the chromosome was inherited. Such findings were later supplemented with human chromosome 14 aberrations that had provided evidence for imprinted intervals on this chromosome, and possibly 2 syndromes associated with a maternal or paternal uniparental disomy affecting chromosome 14. The recent discovery of 2 imprinted genes on human chromosome 14 and mouse chromosome 12 has confirmed genomic imprinting on these chromosomes. These findings will refine our understanding of the clinical consequences of human chromosome 14 aberrations and of the causes of the disease phenotype associated with defective imprinted genes. This article reviews evidence in mice and humans, and the clinical implications for genomic imprinting associated with human chromosome 14.