Evidence map›Paper›PMID 16412618›Full record

ArticleMechanisms of development2006

Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage.

Ramin Mollaaghababa Hakami, Ling Hou, Laura L Baxter, Stacie K Loftus, E Michelle Southard-Smith, Arturo Incao, Jun Cheng, William J Pavan

Open access · greenAbstract read
In one paragraph

Article in Mechanisms of development, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
2.7field-weighted citation impact, top 10% 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

17 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Combinatorial multiomic analysis from a pedigree of Sox10bioRxiv : the preprint server for biology · 2025
    Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Mitochondrial retention of Opa1 is required for mouse embryogenesis.Mammalian genome : official journal of the International Mammalian Genome Society · 2010
    Article
  12. Sox proteins in melanocyte development and melanoma.Pigment cell & melanoma research · 2010
    Review
  13. Review
  14. Article
  15. Article
  16. Interspecies difference in the regulation of melanocyte development by SOX10 and MITF.Proceedings of the National Academy of Sciences of the United States of America · 2006
    Article
  17. Networks and pathways in pigmentation, health, and disease.Wiley interdisciplinary reviews. Systems biology and medicine
    Review
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

8 authors at 2 institutions in 1 country.

Ramin Mollaaghababa HakamiGenetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.
Ling Hou
Laura L Baxter
Stacie K Loftus
E Michelle Southard-Smith
Arturo Incao
Jun Cheng
William J Pavan
National Institutes of Health · USVanderbilt University · US

Funding

DOMINANT MEGACOLON--ANOTHER MODEL FOR HIRSCHSPRUNG DISZ01HG000070 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PAVAN, WILLIAM J · 1996 to 2008
$2.3M
Function genomic analysis of neural crest developmentZ01HG000136 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI PAVAN, WILLIAM J · 1999 to 2008
$2.3M
Intramural NIH HHSNHGRI NIH HHS Z01 HG000070-10NHGRI NIH HHS Z01 HG000136-07
6 · The paper itself

Abstract

Mutations in the transcription factor Sox10 or Endothelin Receptor B (Ednrb) result in Waardenburg Syndrome Type IV (WS-IV), which presents with deficiencies of neural crest derived melanocytes (hypopigmentation) and enteric ganglia (hypoganglionosis). As Sox10 and Ednrb are expressed in mouse migratory neural crest cells and melanoblasts, we investigated the possibility that SOX10 and EDNRB function through a hierarchical relationship during melanocyte development. However, our results support a distinct rather than hierarchical relationship. First, SOX10 expression continues in Ednrb null melanoblasts, demonstrating that SOX10 expression is not dependent on EDNRB function. Second, Ednrb expression persists in E10.5 Sox10null embryos, demonstrating that Ednrb is not dependent on SOX10 for expression in migratory neural crest cells. Third, over-expression of SOX10 in melanoblasts of mice that harbor null or hypomorphic Ednrb alleles does not rescue hypopigmentation, suggesting that SOX10 overexpression can neither complement a lack of EDNRB function nor increase Ednrb expression. Fourth, mice that are double heterozygous for loss-of-function mutations in Sox10 and Ednrb do not demonstrate synergistically increased hypopigmentation compared to mice that are single heterozygotes for either mutation alone, suggesting a lack of direct genetic interaction between these genes. Our results suggest that SOX10 does not directly activate Ednrb transcription in the melanocyte lineage. Given that SOX10 directly activates Ednrb in the enteric nervous system, our results suggest that SOX10 may differentially activate target genes based on the particular cellular context.

Indexed as

Gene Expression Regulation, DevelopmentalAnimalsCell LineageHeterozygoteHigh Mobility Group ProteinsHypopigmentationIntramolecular OxidoreductasesMelanocytesMiceMice, Mutant StrainsMutationNeoplasm ProteinsNeural CrestPromoter Regions, GeneticReceptor, Endothelin BSOXE Transcription Factorsdopachrome isomeraseHigh Mobility Group ProteinsIntramolecular OxidoreductasesNeoplasm ProteinsReceptor, Endothelin BSox10 protein, mouseSOXE Transcription FactorsTranscription Factors

Identifiers

PMID16412618
PMCPMC1373669
OpenAlexW2061498997

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.