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UPD in human and mouse and role in identification of imprinted loci

Part 1. Genetics

1.3. Epigenetics

Basic Techniques and Approaches

  1. Aaron P. Theisen1,
  2. Lisa G. Shaffer2

Published Online: 15 NOV 2005

DOI: 10.1002/047001153X.g103419

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

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.

Author Information

  1. 1

    Washington State University, Health Research and Education Center, Spokane, WA, USA

  2. 2

    Washington State University, Sacred Heart Medical Center, Spokane, WA, USA

Publication History

  1. Published Online: 15 NOV 2005

Abstract

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.

Keywords:

  • uniparental disomy;
  • imprinting;
  • reciprocal translocations;
  • Robertsonian translocations;
  • imprinting maps;
  • epigenetics;
  • development;
  • chromosome abnormalities