Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload

MP Mims, Y Guan, D Pospisilova, M Priwitzerova, K Indrak, P Ponka, V Divoky, JT Prchal

. 2005 ; 105 (3) : 1337-1342.

Jazyk angličtina Země Spojené státy americké

Perzistentní odkaz   https://www.medvik.cz/link/bmc12019766

Grantová podpora
NM6739 MZ0 CEP - Centrální evidence projektů

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.

Bibliografie atd.

Literatura

000      
00000naa a2200000 a 4500
001      
bmc12019766
003      
CZ-PrNML
005      
20120703145829.0
007      
ta
008      
120703s2005 xxu f 000 0eng||
009      
AR
040    __
$a ABA008 $d ABA008 $e AACR2 $b cze
041    0_
$a eng
044    __
$a xxu
100    1_
$a Mims, Martha P. $u Department of Hematology/Oncology, Baylor College of Medicine, One Baylor Plaza 802E, Houston, TX 77030, USA
245    10
$a Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload / $c MP Mims, Y Guan, D Pospisilova, M Priwitzerova, K Indrak, P Ponka, V Divoky, JT Prchal
504    __
$a Literatura
520    9_
$a 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.
536    __
$c Grant Number: R01HL50077-11 (United States NHLBI NIH HHS)
536    __
$c Grant Number: T32 DK60445 (United States NIDDK NIH HHS)
590    __
$a bohemika - dle Pubmed
650    02
$a hypochromní anemie $x genetika $x komplikace $x patologie $7 D000747
650    02
$a zvířata $7 D000818
650    02
$a biopsie $7 D001706
650    02
$a modely nemocí na zvířatech $7 D004195
650    02
$a exony $x genetika $7 D005091
650    02
$a ženské pohlaví $7 D005260
650    02
$a hepatocyty $x patologie $7 D022781
650    02
$a lidé $7 D006801
650    02
$a přetížení železem $x genetika $x komplikace $x patologie $7 D019190
650    02
$a Kupfferovy buňky $x patologie $7 D007728
650    02
$a játra $x patologie $7 D008099
650    02
$a myši $7 D051379
650    02
$a mutace $7 D009154
650    02
$a jednonukleotidový polymorfismus $x genetika $7 D020641
650    02
$a messenger RNA $x genetika $7 D012333
650    02
$a krysa rodu Rattus $7 D051381
650    02
$a transkripční faktory $7 D014157
700    1_
$a Guan, Yongli $u Department of Hematology/Oncology, Baylor College of Medicine, One Baylor Plaza 802E, Houston, TX 77030, USA
700    1_
$a Pospíšilová, Dagmar $7 xx0052603 $u Department of Pediatrics, Faculty of Medicine, Palacky University, Olomouc, Czech Republic
700    1_
$a Horváthová, Monika, $d 1978- $7 ntk2011644397 $u Department of Biology, Faculty of Medicine, Palacky University, Olomouc, Czech Republic
700    1_
$a Indrák, Karel, $d 1947- $7 jn20000401162 $u Department of hemato-oncology, Faculty of Medicine, Palacky University, Olomouc, Czech Republic
700    1_
$a Poňka, Přemysl, $d 1941- $7 jk01100569 $u McGill University, Montreal, QC, Canada
700    1_
$a Divoký, Vladimír $7 xx0018902 $u Department of Biology, Faculty of Medicine, Palacky University, Olomouc, Czech Republic; Department of hemato-oncology, Faculty of Medicine, Palacky University, Olomouc, Czech Republic
700    1_
$a Prchal, Josef T. $7 xx0148595 $u Department of Hematology/Oncology, Baylor College of Medicine, One Baylor Plaza 802E, Houston, TX 77030, USA
773    0_
$t Blood $x 0006-4971 $g Roč. 105, č. 3 (2005), s. 1337-1342 $p Blood $w MED00000807
773    0_
$p Blood $g 105(3):1337-42, 2005 Feb 1 $x 0006-4971
910    __
$a ABA008 $b B 405 $y 2
990    __
$a 20120703145444 $b ABA008
991    __
$a 20120703145748 $b ABA008
999    __
$a ok $b bmc $g 913845 $s 777010
BAS    __
$a 3
BMC    __
$a 2005 $b 105 $c 3 $d 1337-1342 $i 0006-4971 $m Blood $n Blood $x MED00000807
GRA    __
$a NM6739 $p MZ0
LZP    __
$a 2012-07/lmbo

Najít záznam

Citační ukazatele

Možnosti archivace