About: Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.     Goto   Sponge   NotDistinct   Permalink

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Description
  • 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, un
  • 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, un (en)
  • Byla studována mutace DMT1 proteinu u pacienta s mikrocytární anémií a přetížením železem. (cs)
Title
  • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.
  • Identifikace mutace DMT1 proteinu u pacienta s mikrocytární anémií a přetížením železem. (cs)
  • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. (en)
skos:prefLabel
  • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.
  • Identifikace mutace DMT1 proteinu u pacienta s mikrocytární anémií a přetížením železem. (cs)
  • Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. (en)
skos:notation
  • RIV/61989592:15110/05:00006288!RIV09-MZ0-15110___
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NM6739), V, Z(MSM 151100001)
http://linked.open...iv/cisloPeriodika
  • 3
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 524099
http://linked.open...ai/riv/idVysledku
  • RIV/61989592:15110/05:00006288
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • homozygous mutation (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [16467BE16AAC]
http://linked.open...i/riv/nazevZdroje
  • Blood
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 105
http://linked.open...iv/tvurceVysledku
  • Indrák, Karel
  • Pospíšilová, Dagmar
  • Divoký, Vladimír
  • Guan, Y.
  • Mims, M. P.
  • Ponka, P.
  • Priwitzerová, M.
http://linked.open...n/vavai/riv/zamer
issn
  • 0006-4971
number of pages
http://localhost/t...ganizacniJednotka
  • 15110
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