ArticleDevelopmental biology2018
A spontaneous mouse deletion in Mctp1 uncovers a long-range cis-regulatory region crucial for NR2F1 function during inner ear development.
Article in Developmental biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 13 citations in OpenAlex.
- Mapping of chromatin architecture and enhancer-promoter interactions in the cochlea.Frontiers in molecular biosciences · 2025Article
- The predictive value of necroptosis-related lncRNAs in prostate cancer prognosis and their potential to distinguish between cold and hot tumors.Frontiers in cell and developmental biology · 2025Article
- Article
- Mapping oto-pharyngeal development in a human inner ear organoid model.Development (Cambridge, England) · 2023Article
- The DNA methylation-regulated MCTP1 activates the drug-resistance of esophageal cancer cells.Aging · 2021Article
- Characterization of rare spindle and root cell transcriptional profiles in the stria vascularis of the adult mouse cochlea.Scientific reports · 2020Article
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6 authors at 2 institutions in 1 country.
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Abstract
Hundreds of thousands of cis-regulatory DNA sequences are predicted in vertebrate genomes, but unlike genes themselves, few have been characterized at the functional level or even unambiguously paired with a target gene. Here we serendipitously identified and started investigating the first reported long-range regulatory region for the Nr2f1 (Coup-TFI) transcription factor gene. NR2F1 is temporally and spatially regulated during development and required for patterning and regionalization in the nervous system, including sensory hair cell organization in the auditory epithelium of the cochlea. Analyzing the deaf wanderer (dwnd) spontaneous mouse mutation, we traced back the cause of its associated circling behavior to a 53 kb deletion removing five exons and adjacent intronic regions of the poorly characterized Mctp1 gene. Interestingly, loss of Mctp1 function cannot account for the hearing loss, inner ear dysmorphology and sensory hair cell disorganization observed in dwnd mutants. Instead, we found that the Mctp1
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