pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish.

PLoS One. 2012; 7(1): e30896
Liu Y, Semina EV

Human PITX2 mutations are associated with Axenfeld-Rieger syndrome, an autosomal-dominant developmental commotion that involves visible anterior segment defects, dental hypoplasia, craniofacial dysmorphism as well as umbilical abnormalities. Characterization of a PITX2 pathway as well as identification of a mechanisms underlying a anomalies associated with PITX2 deficiency is important for improved understanding of normal growth as well as disease; studies of pitx2 duty in animal models can facilitate these analyses. A knockdown of pitx2 in zebrafish was generated using a morpholino that targeted all known pick transcripts of a pitx2 gene; morphant embryos generated with a pitx2(ex4/5) splicing-blocking oligomer produced abnormal transcripts predicted to encode truncated pitx2 proteins lacking a third (recognition) helix of a DNA-binding homeodomain. The morphological phenotype of pitx2(ex4/5) morphants included small head as well as eyes, jaw line abnormalities as well as pericardial edema; lethality was observed at 6-8-dpf. Cartilage staining revealed a reduction in size as well as an abnormal shape/position of a elements of a mandibular as well as hyoid pharyngeal arches; a ceratobranchial arches were additionally decreased in size. Histological as well as marker analyses of a misshapen eyes of a pitx2(ex4/5) morphants identified anterior segment dysgenesis as well as jumbled hyaloid vasculature. In summary, we demonstrate that pitx2 is essential for proper eye as well as craniofacial growth in zebrafish and, therefore, that PITX2/pitx2 duty is conserved in vertebrates.

paramedic jobs