The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis

Mol Genet Metab. 2012 Nov;107(3):368-74. doi: 10.1016/j.ymgme.2012.09.009. Epub 2012 Sep 10.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alkyl and Aryl Transferases / genetics*
  • Alkyl and Aryl Transferases / metabolism
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Animals
  • Embryo, Mammalian
  • Female
  • Gene Expression
  • Humans
  • In Situ Hybridization
  • Intestinal Mucosa / metabolism
  • Intestines / growth & development
  • Liver / growth & development
  • Liver / metabolism
  • Lung / growth & development
  • Lung / metabolism
  • Methylmalonyl-CoA Mutase / genetics*
  • Methylmalonyl-CoA Mutase / metabolism
  • Mice
  • Mitochondrial Membrane Transport Proteins / genetics*
  • Mitochondrial Membrane Transport Proteins / metabolism
  • Myocardium / metabolism
  • Organ Specificity
  • Organogenesis / genetics*
  • Placenta / metabolism*
  • Pregnancy
  • Vitamin B 12 / metabolism

Substances

  • Mitochondrial Membrane Transport Proteins
  • Alkyl and Aryl Transferases
  • cob(I)alamin adenosyltransferase
  • Methylmalonyl-CoA Mutase
  • Vitamin B 12

Supplementary concepts

  • Methylmalonic acidemia