Article
Distant cis-elements regulate imprinted expression of the mouse p57( Kip2) (Cdkn1c) gene: implications for the human disorder, Beckwith--Wiedemann syndrome.
Human molecular genetics - 15 Jul 2001
John R M, Ainscough J F, Barton S C, Surani M A
Abstract excerpt
Complex phenotypes and genotypes characterize the human disease, Beckwith--Wiedemann syndrome (BWS). Genetic and epigenetic mutations are found in five different genes which all lie within a 1 Mb imprinted domain on human chromosome 11p15. Only two of these genes, p57(KIP2) (CDKN1C) and IGF2, are likely to be functionally involved in this disease. The presence of the additional mutations therefore suggests a role...
Topics
- Animals
- Beckwith-Wiedemann Syndrome
- Cartilage
- Chromosome Mapping
- Contig Mapping
- CpG Islands
- Cyclin-Dependent Kinase Inhibitor p57
- Enhancer Elements, Genetic
- Female
- Genomic Imprinting
- Genotype
- Humans
- In Situ Hybridization