Evidence map›Paper›PMID 18191835›Full record

ArticleExperimental eye research2008

Altered expression of the iron transporter Nramp1 (Slc11a1) during fetal development of the retinal pigment epithelium in microphthalmia-associated transcription factor Mitf(mi) and Mitf(vitiligo) mouse mutants.

J Gelineau-van Waes, L Smith, M van Waes, J Wilberding, J D Eudy, L K Bauer, J Maddox

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Experimental eye research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 33% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 6 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

J Gelineau-van WaesDepartment of Genetics, Cell Biology & Anatomy, University of Nebraska Medical Center, Omaha, NE 68198-5455, USA. jvanwaes@unmc.edu
L Smith
M van Waes
J Wilberding
J D Eudy
L K Bauer
J Maddox
University of Nebraska Medical Center · USLI-COR Biosciences (United States) · USPediatrics and Genetics · US

Funding

ZINC FINGER-INSPIRED FLUORESCENT CHEMOSENSORSP20RR016469 · NCRR · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI TURPEN, JAMES B · 2001 to 2011
$36.2M
TRANSGENIC EXPRESSION ANALYSIS OF MIRNA-144P20RR018788 · NCRR · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI NYSTUEN, ARNE M · 2003 to 2011
$16.5M
NCRR NIH HHS P20 RR 016469NCRR NIH HHS P20 RR016469NCRR NIH HHS P20 RR 018788NCRR NIH HHS P20 RR018788
6 · The paper itself

Abstract

Microphthalmia-associated transcription factor (Mitf) is expressed in neural crest cell-derived melanocytes, and in the retinal pigment epithelium (RPE) during ocular development. Mutations in Mitf are associated with auditory/visual/pigmentary syndromes in humans. Mitf(mi/mi) mouse mutants lack pigmentation, and are microphthalmic, while Mitf(vit/vit) mouse mutants display abnormal RPE pigmentation, and progressive retinal degeneration. Microarray analysis was used to identify novel downstream gene targets/pathways in the RPE that are altered by mutations in the transcription factor Mitf. Using the Affymetrix platform, gene expression profiles were generated using the eyes of E13.5 mouse fetuses that were wildtype, heterozygous, or homozygous for the Mitf(mi) mutation. In a separate experiment, eyes from E13.5 mouse fetuses homozygous for the Mitf(vit) mutation were compared to eyes from the C57BL/6 control background strain. Statistical analyses were performed using robust multiarray average, mixed-effects ANOVA and random-variance t-tests. Altered expression of genes involved in pigment formation, melanosome biogenesis/transport, and redox homeostasis were observed. Twelve genes were commonly mis-regulated in the eyes of both Mitf mutants: 10 of these genes were downregulated in both mutants relative to controls, while 2 of the genes (Nramp1 (Slc11a1) and epoxide hydrolase) were downregulated in Mitf(mi/mi) mutants, and conversely, upregulated in Mitf(vit/vit) mutants. Quantitative RT-PCR and immunohistochemistry were used to confirm altered gene/protein expression. RPE expression of the Fe(+2) iron transporter Nramp1 (Slc11a1) has not previously been reported. Fe(+2) is an important co-factor utilized by the iron-dependent isomerohydrolase RPE65 in the retinoid visual cycle. However, excess accumulation of Fe(+2) in the RPE has recently been associated with oxidative damage and age-related macular degeneration. Abnormal pigmentation and increased activity of Slc11a1 in the RPE of Mitf(vit) mice may contribute to the pathology and progressive retinal degeneration observed in these mutants.

Indexed as

AnimalsAntigens, NeoplasmCation Transport ProteinsFetal DevelopmentGene Expression ProfilingGene Expression Regulation, DevelopmentalHomeostasisIronMelanoma-Specific AntigensMelanosomesMiceMice, Inbred C57BLMice, Mutant StrainsMicrophthalmia-Associated Transcription FactorMicrophthalmosMicroscopy, ElectronAntigens, NeoplasmCation Transport ProteinsIronMelanoma-Specific AntigensMicrophthalmia-Associated Transcription FactorMitf protein, mouseNatural Resistance-associated Macrophage Protein 1Neoplasm ProteinsRetinal Pigments

Identifiers

PMID18191835
PMCPMC2346581
OpenAlexW2017321253

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.