Article
A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects.
Human molecular genetics - 1 Feb 2006
Johnstone Karen A, DuBose Amanda J, Futtner Christopher R, Elmore Michael D, Brannan Camilynn I, Resnick James L
Abstract excerpt
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the loss of imprinted gene expression from chromosome 15q11-q13. Imprinted gene expression in the region is regulated by a bipartite imprinting centre (IC), comprising the PWS-IC and the AS-IC. The PWS-IC is a positive regulatory element required for bidirectional activation of a number of paternally expressed genes. The function of the AS-IC...
Topics
- Angelman Syndrome
- Animals
- Autoantigens
- Conserved Sequence
- DNA Methylation
- Disease Models, Animal
- Gene Expression Regulation
- Gene Silencing
- Genomic Imprinting
- Humans