Evidence map›Paper›PMID 12533510›Full record

ArticleGenes & development2003

Genetics of dark skin in mice.

Karen R Fitch, Kelly A McGowan, Catherine D van Raamsdonk, Helmut Fuchs, Daekee Lee, Anne Puech, Yann Hérault, David W Threadgill, Martin Hrabé de Angelis, Gregory S Barsh

Open access · diamondAbstract read
In one paragraph

Article in Genes & development, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.

0numbers the graph read from it
0cells of the map it votes in
61citing papers in PubMed
–field-weighted citation impact
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

61 citing papers in PubMed, 139 citations in OpenAlex.

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  12. The Role of the EGF Receptor in Sex Differences in Kidney Injury.Journal of the American Society of Nephrology : JASN · 2019
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  13. Spatiotemporal Loss ofCancer discovery · 2019
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  14. Evolutionary Perspective in Rickets and Vitamin D.Frontiers in endocrinology · 2019
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  19. Editorial: GPCRs and Cancer.Frontiers in genetics · 2017
    Article
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1 more citing papers are in PubMed but not listed here.

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

10 authors at 6 institutions in 3 countries.

Karen R FitchDepartment of Pediatrics, Stanford University School of Medicine, Stanford, California 94305, USA.
Kelly A McGowan
Catherine D van Raamsdonk
Helmut Fuchs
Daekee Lee
Anne Puech
Yann Hérault
David W Threadgill
Martin Hrabé de Angelis
Gregory S Barsh
Transgene (France) · FRPediatrics and Genetics · USUniversity of North Carolina at Chapel Hill · USCentre National de Recherche en Génomique Humaine · FRInstitute of Groundwater Ecology · DEUNC Lineberger Comprehensive Cancer Center

Funding

TUMOR BIOLOGYT32CA009151 · NCI · STANFORD UNIVERSITY · PI CLEARY, MICHAEL L · 1985 to 2014
$5.5M
GENETIC ANALYSIS OF SKIN PIGMENTATIONF32GM020733 · NIGMS · STANFORD UNIVERSITY · PI FITCH, KAREN R · 2000 to 2002
$119k
NCI NIH HHS CA09151NCI NIH HHS T32 CA009151NIGMS NIH HHS F32 GM020733NIGMS NIH HHS GM20733
6 · The paper itself

Abstract

Chemical mutagenesis in the mouse is a powerful approach for phenotype-driven genetics, but questions remain about the efficiency with which new mutations ascertained by their phenotype can be localized and identified, and that knowledge applied to a specific biological problem. During a global screen for dominant phenotypes in about 30,000 animals, a novel class of pigmentation mutants were identified by dark skin (Dsk). We determined the genetic map location, homozygous phenotype, and histology of 10 new Dsk and 2 new dark coat (Dcc) mutations, and identified mutations in Agouti (Met1Leu, Dcc4), Sox18 (Leu220ter, Dcc1), Keratin 2e (Thr500Pro, Dsk2), and Egfr (Leu863Gln, Dsk5). Cutaneous effects of most Dsk mutations are limited to melanocytes, except for the Keratin 2e and Egfr mutations, in which hyperkeratosis and epidermal thickening precede epidermal melanocytosis by 3-6 wk. The Dsk2 mutation is likely to impair intermediate filament assembly, leading to cytolysis of suprabasal keratinocytes and secondary hyperkeratosis and melanocytosis. The Dsk5 mutation causes increased tyrosine kinase activity and a decrease in steady-state receptor levels in vivo. The Dsk mutations represent genes or map locations not implicated previously in pigmentation, and delineate a developmental pathway in which mutations can be classified on the basis of body region, microscopic site, and timing of pigment accumulation.

Indexed as

Amino Acid SequenceAnimalsChromosome MappingErbB ReceptorsGenes, DominantHomozygoteHumansKeratinsMelanocytesMiceMice, Inbred C3HMice, Inbred C57BLMice, Mutant StrainsMutationPhenotypeSequence Homology, Amino AcidErbB ReceptorsKeratins

Identifiers

PMID12533510
PMCPMC195979
OpenAlexW2122355964

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.