Evidence map›Paper›PMID 11917121›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2002

Mutation of melanosome protein RAB38 in chocolate mice.

Stacie K Loftus, Denise M Larson, Laura L Baxter, Anthony Antonellis, Yidong Chen, Xufeng Wu, Yuan Jiang, Michael Bittner, John A Hammer, William J Pavan

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers.

0numbers the graph read from it
0cells of the map it votes in
87citing papers in PubMed
3.6field-weighted citation impact, top 7% 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

87 citing papers in PubMed, 161 citations in OpenAlex.

  1. Lysosome-related organelles orchestrate guanine crystal formation in pigment cells.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  2. Zoological research · 2025
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  18. International journal of molecular sciences · 2018
    Review
  19. Review
  20. Exogenous gene transfer of RabRespiratory research · 2017
    Article

27 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 5 institutions in 1 country.

Stacie K LoftusGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Denise M Larson
Laura L Baxter
Anthony Antonellis
Yidong Chen
Xufeng Wu
Yuan Jiang
Michael Bittner
John A Hammer
William J Pavan
Cancer Genetics (United States) · USGeorge Washington University · USNational Heart Lung and Blood Institute · USNational Human Genome Research Institute · USNational Institutes of Health · US

Funding

Function genomic analysis of neural crest developmentZIAHG000136 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PAVAN, WILLIAM J · 2009 to 2023
$13.6M
Structure And Function Of Unconventional Myosins and CARMIL ProteinsZIAHL000514 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI HAMMER, JOHN A · 2009 to 2018
$9.6M
THE STRUCTURE AND SEQUENCE OF NON-MUSCLE MYOSIN GENESZ01HL000514 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI HAMMER, JOHN A · 1985 to 2008
$4.7M
Function genomic analysis of neural crest developmentZ01HG000136 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PAVAN, WILLIAM J · 1999 to 2008
$2.3M
6 · The paper itself

Abstract

Mutations of genes needed for melanocyte function can result in oculocutaneous albinism. Examination of similarities in human gene expression patterns by using microarray analysis reveals that RAB38, a small GTP binding protein, demonstrates a similar expression profile to melanocytic genes. Comparative genomic analysis localizes human RAB38 to the mouse chocolate (cht) locus. A G146T mutation occurs in the conserved GTP binding domain of RAB38 in cht mice. Rab38(cht)/Rab38(cht) mice exhibit a brown coat similar in color to mice with a mutation in tyrosinase-related protein 1 (Tyrp1), a mouse model for oculocutaneous albinism. The targeting of TYRP1 protein to the melanosome is impaired in Rab38(cht)/Rab38(cht) melanocytes. These observations, and the fact that green fluorescent protein-tagged RAB38 colocalizes with end-stage melanosomes in wild-type melanocytes, suggest that RAB38 plays a role in the sorting of TYRP1. This study demonstrates the utility of expression profile analysis to identify mammalian disease genes.

Indexed as

MutationOxidoreductasesAnimalsBase SequenceCells, CulturedChromosome MappingGene Expression ProfilingHumansMelanocytesMelanosomesMembrane GlycoproteinsMiceMice, Inbred C57BLMolecular Sequence DataPigmentation Disordersrab GTP-Binding ProteinsMembrane GlycoproteinsOxidoreductasesRAB38 protein, humanRab38 protein, mouserab GTP-Binding ProteinsTYRP1 protein, humanTyrp1 protein, mouse

Identifiers

PMID11917121
PMCPMC123672
OpenAlexW2078128112

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.