title: The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis.
abstract: Organ-specific birth defects are seen in patients with some inborn errors of vitamin B(12) metabolism. To determine whether three mouse genes, whose human counterparts are associated with isolated methylmalonic aciduria (Mmaa, Mmab and Mut), show tissue-specific expression during organogenesis, we used in situ hybridization to characterize their pattern of expression in wild type embryos and placentas at embryonic days (E) E10.5, E11.5 and E12.5. These three genes are ubiquitously expressed in the placenta and in embryos at E10.5. At E11.5, we observed tissue specific expression patterns for these three genes in lung, head and Rathke's pouch. At E12.5, although Mut expression was ubiquitous, we found cell-type specific expression patterns for Mmaa and Mmab in the developing craniofacial region, the lung, the liver, and the gut. These results suggest that during organogenesis the proteins encoded by these three genes may interact in only a subset of cells.
authors.affiliation: Department of Human Genetics, McGill University, 1205 Avenue Docteur Penfield, N5/13, Montreal, Quebec, Canada H3A 1B1.
authors.forename: Maira A
authors.initials: MA
authors.lastname: Moreno-Garcia
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
authors.forename: Loydie A
authors.initials: LA
authors.lastname: Jerome-Majewska
mesh_terms: D019883:Alkyl and Aryl Transferases / Q000235:genetics* / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism; D000818:Animals; D004622:Embryo, Mammalian; D005260:Female; D015870:Gene Expression; D006801:Humans; D017403:In Situ Hybridization; D007413:Intestinal Mucosa / Q000378:metabolism; D007422:Intestines / Q000254:growth & development; D008099:Liver / Q000254:growth & development / Q000378:metabolism; D008168:Lung / Q000254:growth & development / Q000378:metabolism; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics* / Q000378:metabolism; D009206:Myocardium / Q000378:metabolism; D009928:Organ Specificity; D038081:Organogenesis / Q000235:genetics*; D010920:Placenta / Q000378:metabolism*; D011247:Pregnancy; D014805:Vitamin B 12 / Q000378:metabolism
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; D019883:Alkyl and Aryl Transferases; C019920:cob(I)alamin adenosyltransferase; D008765:Methylmalonyl-CoA Mutase; D014805:Vitamin B 12