Ontology highlight
ABSTRACT:
SUBMITTER: Roessler E
PROVIDER: S-EPMC3409191 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
PloS one 20120731 7
Coding region alterations of ZIC2 are the second most common type of mutation in holoprosencephaly (HPE). Here we use several complementary bioinformatic approaches to identify ultraconserved cis-regulatory sequences potentially driving the expression of human ZIC2. We demonstrate that an 804 bp element in the 3' untranslated region (3'UTR) is highly conserved across the evolutionary history of vertebrates from fish to humans. Furthermore, we show that while genetic variation of this element is ...[more]