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UNIPARENTAL DISOMY: MECHANISMS AND CLINICAL CONSEQUENCES

Published online by Cambridge University Press:  08 July 2003

LISA G SHAFFER
Affiliation:
School of Molecular Biosciences, Health Research and Education Center, Center for Reproductive Biology, and Cancer Prevention and Research Center, Washington State University, and Sacred Heart Medical Center, Spokane, Washington, USA

Extract

During gametogenesis in mammals, half of the parental chromosomes segregate to each gamete. Upon fertilization of two haploid gametes, the diploid number is restored (Figure 1A). Nondisjunction, malsegregation of the chromosomes during gametogenesis, can give rise to chromosomally unbalanced offspring (trisomies and monosomies) (Figure 1B). Genomic imprinting is an epigenetic phenomenon in which the activity of a gene is reversibly modified depending on the parent of origin. This leads to unequal, monoallelic expression of the maternal and paternal alleles of a diploid locus (Figure 1C). Thus, the normal state of an imprinted locus is an “imbalance”, not of chromosomes, but of the functional genetic content.

Type
Research Article
Copyright
© Cambridge University Press 2003

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