ArticleHuman molecular genetics2008
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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.
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.
Who cites it
33 citing papers in PubMed.
- Circular RNA profiling uncovers regulators of early body color transition in juvenile leopard coral grouper (Plectropomus leopardus).BMC genomics · 2026Article
- Genome-Wide Selection Sweep Analysis to Identify Candidate Genes with Black and Brown Color in Tibetan Sibu Yaks.Animals : an open access journal from MDPI · 2024Article
- The loop-tail mouse model displays open and closed caudal neural tube defects.Disease models & mechanisms · 2023Article
- Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation.Disease models & mechanisms · 2023Article
- SISTEMA: A large and standardized collection of transcriptome data sets for human pluripotent stem cell research.iScience · 2021Article
- Suppressor mutations inGenome research · 2020Article
- Gli3 Regulates Vomeronasal Neurogenesis, Olfactory Ensheathing Cell Formation, and GnRH-1 Neuronal Migration.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2020Article
- The Genome of C57BL/6J "Eve", the Mother of the Laboratory Mouse Genome Reference Strain.G3 (Bethesda, Md.) · 2019Article
- Regulation of melanocyte stem cells in the pigmentation of skin and its appendages: Biological patterning and therapeutic potentials.Experimental dermatology · 2019Review
- Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse.PLoS genetics · 2018Article
- Gli3 is a negative regulator of Tas1r3-expressing taste cells.PLoS genetics · 2018Article
- Sensitized mutagenesis screen in Factor V Leiden mice identifies thrombosis suppressor loci.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation.Nucleic acids research · 2017Article
- Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering.Birth defects research. Part C, Embryo today : reviews · 2014Review
- Generation of a Magoh conditional allele in mice.Genesis (New York, N.Y. : 2000) · 2014Article
- SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis.Cancer research · 2013Article
- A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.Nature genetics · 2013Article
- The EJC component Magoh regulates proliferation and expansion of neural crest-derived melanocytes.Developmental biology · 2013Article
- Article
- Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes.PLoS genetics · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
Haploinsufficiency for the transcription factor SOX10 is associated with the pigmentary deficiencies of Waardenburg syndrome (WS) and is modeled in Sox10 haploinsufficient mice (Sox10(LacZ/+)). As genetic background affects WS severity in both humans and mice, we established an N-ethyl-N-nitrosourea (ENU) mutagenesis screen to identify modifiers that increase the phenotypic severity of Sox10(LacZ/+) mice. Analysis of 230 pedigrees identified three modifiers, named modifier of Sox10 neurocristopathies (Mos1, Mos2 and Mos3). Linkage analysis confirmed their locations on mouse chromosomes 13, 4 and 3, respectively, within regions distinct from previously identified WS loci. Positional candidate analysis of Mos1 identified a truncation mutation in a hedgehog(HH)-signaling mediator, GLI-Kruppel family member 3 (Gli3). Complementation tests using a second allele of Gli3 (Gli3(Xt-J)) confirmed that a null mutation of Gli3 causes the increased hypopigmentation in Sox10(LacZ/+);Gli3(Mos1/)(+) double heterozygotes. Early melanoblast markers (Mitf, Sox10, Dct, and Si) are reduced in Gli3(Mos1/)(Mos1) embryos, indicating that loss of GLI3 signaling disrupts melanoblast specification. In contrast, mice expressing only the GLI3 repressor have normal melanoblast specification, indicating that the full-length GLI3 activator is not required for specification of neural crest to the melanocyte lineage. This study demonstrates the feasibility of sensitized screens to identify disease modifier loci and implicates GLI3 and other HH signaling components as modifiers of human neurocristopathies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.