UPD in human and mouse and role in identification of imprinted loci
Part 1. Genetics
Basic Techniques and Approaches
Published Online: 15 NOV 2005
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Theisen, A. P. and Shaffer, L. G. 2005. UPD in human and mouse and role in identification of imprinted loci. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.3:46.
- Published Online: 15 NOV 2005
Genome imprinting refers to the epigenetic phenomenon in which alleles are differentially expressed depending on their parent of origin. The search for imprinted loci relies upon genomic alterations that unmask imprinted genes through over- or underexpression. Mice with whole-chromosome or segmental uniparental disomy (UPD) (the abnormal inheritance of both members or segments of a pair of homologous chromosomes from one parent) may be generated by the intercrossing of mice heterozygous for either reciprocal or Robertsonian translocations. The phenotypic effects, if any, may be attributed to altering the normal “imbalance” of gene dosage of imprinted or parent-specific expression of genes through the overexpression (via two expressed copies) or underexpression (via no expressed copies) of whole chromosomes or chromosome segments. The high homology between the mouse and human genomes permits the investigation of imprinted loci in humans with complementary UPDs.
- uniparental disomy;
- reciprocal translocations;
- Robertsonian translocations;
- imprinting maps;
- chromosome abnormalities