title: Morphological defects in a novel Rdh10 mutant that has reduced retinoic acid biosynthesis and signaling.
abstract: Retinoic acid (RA) signaling is necessary for proper patterning and morphogenesis during embryonic development. Tissue-specific RA signaling requires precise spatial and temporal synthesis of RA from retinal by retinaldehyde dehydrogenases (Raldh) and the conversion of retinol to retinal by retinol dehydrogenases (Rdh) of the short-chain dehydrogenase/reducatase gene family (SDR). The SDR, retinol dehydrogenase 10 (RDH10), is a major contributor to retinal biosynthesis during mid-gestation. We have identified a missense mutation in the Rdh10 gene (Rdh10(m366Asp) ) using an N-ethyl-N-nitrosourea-induced forward genetic screen that result in reduced RA levels and signaling during embryonic development. Rdh10(m366Asp) mutant embryos have unique phenotypes, such as edema, a massive midline facial cleft, and neurogenesis defects in the forebrain, that will allow the identification of novel RA functions.
authors.forename: Amir M
authors.initials: AM
authors.lastname: Ashique
authors.forename: Scott R
authors.initials: SR
authors.lastname: May
authors.forename: Maureen A
authors.initials: MA
authors.lastname: Kane
authors.forename: Alexandra E
authors.initials: AE
authors.lastname: Folias
authors.forename: Khanhky
authors.initials: K
authors.lastname: Phamluong
authors.forename: Youngshik
authors.initials: Y
authors.lastname: Choe
authors.forename: Joseph L
authors.initials: JL
authors.lastname: Napoli
authors.forename: Andrew S
authors.initials: AS
authors.lastname: Peterson
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D000818:Animals; D003001:Cloning, Molecular; D051379:Mice; D020125:Mutation, Missense; D015398:Signal Transduction; D014212:Tretinoin / Q000378:metabolism*
chemical_list: D014212:Tretinoin; D000429:Alcohol Oxidoreductases; C113992:trans-retinol dehydrogenase