Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly

• Published in: PloS one Vol. 7; no. 7; p. e39026
• Main Authors: Roessler, Erich, Hu, Ping, Hong, Sung-Kook, Srivastava, Kshitij, Carrington, Blake, Sood, Raman, Petrykowska, Hanna, Elnitski, Laura, Ribeiro, Lucilene A, Richieri-Costa, Antonio, Feldman, Benjamin, Odenwald, Ward F, Muenke, Maximilian
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 31.07.2012; Public Library of Science (PLoS)
• Subjects: 3' Untranslated Regions; Animals; Base Sequence; Body Patterning; Conserved Sequence; DNA Mutational Analysis; Gene Regulatory Networks; Genetic Association Studies; Holoprosencephaly - genetics; Humans; Molecular Sequence Data; Nuclear Proteins - genetics; Prosencephalon - growth & development; Sequence Alignment; Transcription Factors - genetics; Zebrafish

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 ele...