ArticleDisease models & mechanisms2016
Upregulation of the Nr2f1-A830082K12Rik gene pair in murine neural crest cells results in a complex phenotype reminiscent of Waardenburg syndrome type 4.
Article in Disease models & mechanisms, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Brain-Specific Gata4 Downregulation in Greywick Female Mice Models the Metabolic Subtype of Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.International journal of molecular sciences · 2025Article
- Morphological evidence suggestive of a hierarchical mode of glial cell diversification and intrinsic developmental plasticity within the murine enteric nervous system.Frontiers in neuroscience · 2025Article
- Region-specific gene expression profiling of early mouse mandible uncovered SATB2 as a key molecule for teeth patterning.Scientific reports · 2024Article
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- Harnessing the Power of Enteric Glial Cells' Plasticity and Multipotency for Advancing Regenerative Medicine.International journal of molecular sciences · 2023Review
- The long and short: Non-coding RNAs in the mammalian inner ear.Hearing research · 2023Review
- Transposable elements acquire time- and sex-specific transcriptional and epigenetic signatures along mouse fetal gonad development.Frontiers in cell and developmental biology · 2023Article
- Genetic Background Influences Severity of Colonic Aganglionosis and Response to GDNF Enemas in theInternational journal of molecular sciences · 2021Article
- Nerve-associated Schwann cell precursors contribute extracutaneous melanocytes to the heart, inner ear, supraorbital locations and brain meninges.Cellular and molecular life sciences : CMLS · 2021Article
- Development, Diversity, and Neurogenic Capacity of Enteric Glia.Frontiers in cell and developmental biology · 2021Review
- Identification of Long Noncoding RNAs Involved in Differentiation and Survival of Vascular Smooth Muscle Cells.Molecular therapy. Nucleic acids · 2020Article
- Regulation of neuronal commitment in mouse embryonic stem cells by the Reno1/Bahcc1 locus.EMBO reports · 2020Article
- Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea.Scientific reports · 2020Article
- Male-biased aganglionic megacolon in the TashT mouse model of Hirschsprung disease involves upregulation of p53 protein activity and Ddx3y gene expression.PLoS genetics · 2020Article
- Rare or Overlooked? Structural Disruption of Regulatory Domains in Human Neurocristopathies.Frontiers in genetics · 2020Review
- Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.Transcription · 2019Review
- Enteric nervous system development: what could possibly go wrong?Nature reviews. Neuroscience · 2018Review
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6 authors at 2 institutions in 1 country.
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Abstract
Waardenburg syndrome is a neurocristopathy characterized by a combination of skin and hair depigmentation, and inner ear defects. In the type 4 form, these defects show comorbidity with Hirschsprung disease, a disorder marked by an absence of neural ganglia in the distal colon, triggering functional intestinal obstruction. Here, we report that the Spot mouse line - obtained through an insertional mutagenesis screen for genes involved in neural crest cell (NCC) development - is a model for Waardenburg syndrome type 4. We found that the Spot insertional mutation causes overexpression of an overlapping gene pair composed of the transcription-factor-encoding Nr2f1 and the antisense long non-coding RNA A830082K12Rik in NCCs through a mechanism involving relief of repression of these genes. Consistent with the previously described role of Nr2f1 in promoting gliogenesis in the central nervous system, we further found that NCC-derived progenitors of the enteric nervous system fail to fully colonize Spot embryonic guts owing to their premature differentiation in glial cells. Taken together, our data thus identify silencer elements of the Nr2f1-A830082K12Rik gene pair as new candidate loci for Waardenburg syndrome type 4.
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