The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer

• Published in: Biology of the cell Vol. 103; no. 7; pp. 303 - 317
• Main Authors: Lapunzina, Pablo, Monk, David
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.07.2011
• Subjects: cancer; Chromosome Aberrations; DNA methylation; DNA, Neoplasm - genetics; Gene Dosage - genetics; Humans; imprinting; Loss of Heterozygosity - genetics; mutation; Neoplasms - genetics; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide - genetics; uniparental disomy; Uniparental Disomy - genetics

UPD (uniparental disomy) describes the inheritance of a pair of chromosomes from only one parent. Mechanisms that lead to UPD include trisomy rescue, gamete complementation, monosomy rescue and somatic recombination. Most of these mechanisms can involve aberrant chromosomes, particularly isochromoso...