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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.
AuthorsMaira A Moreno-Garcia, David S Rosenblatt, Loydie A Jerome-Majewska
JournalMolecular genetics and metabolism (Mol Genet Metab) Vol. 107 Issue 3 Pg. 368-74 (Nov 2012) ISSN: 1096-7206 [Electronic] United States
PMID23022071 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 Elsevier Inc. All rights reserved.
Chemical References
  • Mitochondrial Membrane Transport Proteins
  • Alkyl and Aryl Transferases
  • cob(I)alamin adenosyltransferase
  • Methylmalonyl-CoA Mutase
  • Vitamin B 12
Topics
  • Alkyl and Aryl Transferases (genetics, metabolism)
  • Amino Acid Metabolism, Inborn Errors (genetics, metabolism)
  • Animals
  • Embryo, Mammalian
  • Female
  • Gene Expression
  • Humans
  • In Situ Hybridization
  • Intestinal Mucosa (metabolism)
  • Intestines (growth & development)
  • Liver (growth & development, metabolism)
  • Lung (growth & development, metabolism)
  • Methylmalonyl-CoA Mutase (genetics, metabolism)
  • Mice
  • Mitochondrial Membrane Transport Proteins (genetics, metabolism)
  • Myocardium (metabolism)
  • Organ Specificity
  • Organogenesis (genetics)
  • Placenta (metabolism)
  • Pregnancy
  • Vitamin B 12 (metabolism)

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