Evidence map›Paper›PMID 15112108›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society2004

The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain.

Naoki Oiso, Suzette R Riddle, Tadao Serikawa, Takashi Kuramoto, Richard A Spritz

Abstract read
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In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
2.0field-weighted citation impact, top 15% 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

39 citing papers in PubMed, 83 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. International journal of molecular sciences · 2018
    Review
  10. Article
  11. Exogenous gene transfer of RabRespiratory research · 2017
    Article
  12. Review
  13. Article
  14. Article
  15. The role of the small GTPase Rab31 in cancer.Journal of cellular and molecular medicine · 2015
    Review
  16. Article
  17. Rab family of GTPases.Methods in molecular biology (Clifton, N.J.) · 2015
    Review
  18. Article
  19. C. elegans as a model for membrane traffic.WormBook : the online review of C. elegans biology · 2014
    Review
  20. Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides.Proceedings of the National Academy of Sciences of the United States of America · 2013
    Article
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

5 authors at 2 institutions in 2 countries.

Naoki OisoHuman Medical Genetics Program, University of Colorado Health Sciences Center, 4200 E. 9th Ave., B161, Denver, Colorado 80262, USA.
Suzette R Riddle
Tadao Serikawa
Takashi Kuramoto
Richard A Spritz
University of Colorado Health · USKyoto University · JP

Funding

STUDIES OF HUMAN PIGMENTATION DISORDERSR01AR039892 · NIAMS · UNIVERSITY OF WISCONSIN MADISON · PI SPRITZ, RICHARD A · 1989 to 2005
$2.5M
NIAMS NIH HHS AR39892
6 · The paper itself

Abstract

Hermansky-Pudlak syndrome (HPS) is a group of rare, recessive disorders in which oculocutaneous albinism, progressive pulmonary fibrosis, bleeding diathesis, and other abnormalities result from defective biogenesis of multiple cytoplasmic organelles. Seven different HPS genes are known in humans; in mouse, at least 16 loci are associated with HPS-like mutant phenotypes. In the rat, only two HPS models are known, Fawn-hooded (FH) and Tester Moriyama (TM), non-complementing strains in which HPS-like hypopigmentation and platelet storage pool deficiency result from a mutation of the Ruby (red eyed dilution; R) locus on Chromosome (Chr) 1. We have identified the R locus as the Rab38 gene, establishing that rat R is homologous to mouse chocolate ( cht). Further, we show that FH and TM rats have identical Rab38 Met1Ile mutations, occurring on an identical Chr 1 marker allele haplotype, indicating that these two strains derive from a common ancestor. This ancestor appears to have been a sub-strain of the outbred Long Evans (LE) strain, and several modern LE sub-strains carry the Rab38 Met1Ile R mutation on the same Chr 1 marker haplotype. These findings have significant implications for the many past and ongoing studies that involve the FH and LE-derivative rat strains. Hermansky-Pudlak syndrome (HPS; MIM 203300) is a group of autosomal recessive diseases in which oculocutaneous albinism (OCA), progressive and fatal pulmonary fibrosis, and bleeding diathesis due to platelet storage pool deficiency result from defects in the biogenesis of specific cytoplasmic organelles and granules: melanosomes, lysosomes, and platelet dense granules. In humans, seven different HPS genes are known. In the mouse, at least 16 loci associated with HPS-like mutant phenotypes are known, seven of which are homologous to the human HPS loci.

Indexed as

AnimalsBase SequenceDNAHermanski-Pudlak SyndromeMicrosatellite RepeatsMolecular Sequence DataPoint MutationPolymorphism, Single-Stranded Conformationalrab GTP-Binding ProteinsRatsRats, Long-EvansReverse Transcriptase Polymerase Chain ReactionRNADNARab38 protein, ratrab GTP-Binding ProteinsRNA

Identifiers

PMID15112108
OpenAlexW2086855971

What OpenQuestion holds

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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.