Ontology highlight
ABSTRACT:
SUBMITTER: Chang S
PROVIDER: S-EPMC7272347 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Chang Suhee S Bartolomei Marisa S MS
Disease models & mechanisms 20200526 5
Genomic imprinting, a phenomenon in which the two parental alleles are regulated differently, is observed in mammals, marsupials and a few other species, including seed-bearing plants. Dysregulation of genomic imprinting can cause developmental disorders such as Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS). In this Review, we discuss (1) how various (epi)genetic lesions lead to the dysregulation of clinically relevant imprinted loci, and (2) how such perturbations may cont ...[more]