Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F05%3A00001980" target="_blank" >RIV/61989592:15110/05:00001980 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake

Original language description

We have previously described a case of severe hypochromic microcytic anemia caused by a homozygous mutation in the divalent metal transporter 1 (DMT1 1285G > C). This mutation encodes for an amino acid substitution (E399D) and causes preferential skipping of exon 12 during processing of the DMT1 mRNA. To examine the functional consequences of this mutation, full-length DMT1 transcript with the patient's point mutation or a DMT1 transcript with exon 12 deleted was expressed in Chinese hamster ovary (CHO)cells. Our results demonstrate that the E399D substitution has no effect on protein expression and function. In contrast, deletion of exon 12 led to a decreased expression of the protein and disruption of its subcellular localization and iron uptake activity. We hypothesize that the residual protein in hematopoietic cells represents the functional E399D DMT1 variant, but because of its quantitative reduction, the iron uptake activity of DMT1 in the patient's erythroid cells is severely

Czech name

Funkční následky mutace lidského genu DMT1 (SLC11A2) na expresi proteinu a příjem železa

Czech description

Již dříve jsme popsali případ tžké hypochromní mikrocytární anemie způsobené homozygotní mutací v genu DMT1 (divalentní přenašeč kovových iontů 1). Tato mutace způsobuje záměnu aminokyseliny (E399D) a způsobuje preferenční přeskočení exonu 12 při vznikumRNA. ...

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

<a href="/en/project/NR7799" target="_blank" >NR7799: Molecular pathophysiology of congenital defects of erythroid production in Czech Republic</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2005

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Blood

ISSN

0006-4971

e-ISSN

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Volume of the periodical

106

Issue of the periodical within the volume

12

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

3985-3987

UT code for WoS article

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EID of the result in the Scopus database

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