GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com


Jump to: navigation, search


You don't have sufficient rights on this wiki to edit tables. Perhaps you need to log in. Changes you make in the Table editor will not be saved back to the wiki

See Help for Help on this wiki. See the documentation for how to use the table editor


Mims, MP, Guan, Y, Pospisilova, D, Priwitzerova, M, Indrak, K, Ponka, P, Divoky, V and Prchal, JT (2005) Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 105:1337-42


Divalent metal transporter 1 (DMT1) is a transmembrane protein crucial for duodenal iron absorption and erythroid iron transport. DMT1 function has been elucidated largely in studies of the mk mouse and the Belgrade rat, which have an identical single nucleotide mutation of this gene that affects protein processing, stability, and function. These animals exhibit hypochromic microcytic anemia due to impaired intestinal iron absorption, and defective iron utilization in red cell precursors. We report here the first human mutation of DMT1 identified in a female with severe hypochromic microcytic anemia and iron overload. This homozygous mutation in the ultimate nucleotide of exon 12 codes for a conservative E399D amino acid substitution; however, its pre-dominant effect is preferential skipping of exon 12 during processing of pre-messenger RNA (mRNA). The lack of full-length mRNA would predict deficient iron absorption in the intestine and deficient iron utilization in erythroid precursors; however, unlike the animal models of DMT1 mutation, the patient is iron overloaded. This does not appear to be due to up-regulation of total DMT1 mRNA. DMT1 protein is easily detectable by immunoblotting in the patient's duodenum, but it is unclear whether the protein is properly processed or targeted.


PubMed Online version:10.1182/blood-2004-07-2966


Anemia, Hypochromic/complications; Anemia, Hypochromic/genetics; Anemia, Hypochromic/pathology; Animals; Biopsy; Disease Models, Animal; Exons/genetics; Female; Hepatocytes/pathology; Humans; Iron Overload/complications; Iron Overload/genetics; Iron Overload/pathology; Kupffer Cells/pathology; Liver/pathology; Mice; Mutation; Polymorphism, Single Nucleotide/genetics; RNA, Messenger/genetics; Rats; Transcription Factors/genetics