NDLI: Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Bankhead, Elizabeth J. Colasanto, Mary P. Dyorich, Kayla M. Jamrich, Milan Murtaugh, L. Charles Fuhrmann, Sabine
Description	Author Affiliation: Bankhead EJ ( Departments of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.); Colasanto MP ( Departments of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.); Dyorich KM ( Departments of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah.); Jamrich M ( Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas); Murtaugh LC ( Department of Human Genetics, University of Utah, Salt Lake City, Utah.); Fuhrmann S ( Departments of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, Utah. Electronic address: sabine.fuhrmann@hsc.utah.edu.)
Abstract	Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is frequently accompanied by ocular abnormalities such as coloboma, microphthalmia, or even anophthalmia. Although genetic ablation of Porcn in mouse has provided insight into the etiology of defects caused by ectomesodermal dysplasia in FDH, the requirement for Porcn and the actual Wnt ligands during eye development have been unknown. In this study, Porcn hemizygosity occasionally caused ocular defects reminiscent of FDH. Conditional inactivation of Porcn in periocular mesenchyme led to defects in mid- and hindbrain and in craniofacial development, but was insufficient to cause ocular abnormalities. However, a combination of conditional Porcn depletion in optic vesicle neuroectoderm, lens, and neural crest-derived periocular mesenchyme induced severe eye abnormalities with high penetrance. In particular, we observed coloboma, transdifferentiation of the dorsal and ventral retinal pigment epithelium, defective optic cup periphery, and closure defects of the eyelid, as well as defective corneal morphogenesis. Thus, Porcn is required in both extraocular and neuroectodermal tissues to regulate distinct Wnt-dependent processes during morphogenesis of the posterior and anterior segments of the eye.
File Format	HTM / HTML
ISSN	00029440
e-ISSN	15252191
DOI	10.1016/j.ajpath.2014.09.002
Journal	The American Journal of Pathology
Issue Number	1
Volume Number	185
Language	English
Publisher	Elsevier (on behalf of the American Society for Investigative Pathology)
Publisher Date	2015-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't Wnt Proteins Eye Retinal Pigment Epithelium Embryology In Situ Hybridization Gene Expression Regulation, Developmental Recombination, Genetic Disease Models, Animal Focal Dermal Hypoplasia Mice, Inbred C57bl Genotype Discipline Pathology Glycoproteins Metabolism Hemizygote Membrane Proteins Animals Alleles Ligands Mice Mutation
Content Type	Text
Resource Type	Article
Subject	Pathology and Forensic Medicine

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