ArticleNeurogenetics2011
C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development.
Article in Neurogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 22 citations in OpenAlex.
- Mapping cis- and trans-regulatory target genes of human-specific deletions.Nature communications · 2025Article
- Ewing sarcoma depends on C4orf48/NICOL, a NELL2 cofactor regulated by Hippo signaling.Cellular signalling · 2025Article
- Identification of Bone Metastasis-Related Gene Networks in Lung Cancer: Implications for Bone Metabolism.Journal of bone metabolism · 2025Article
- A Unique Derivative Chromosome 4 with a Predominant 4p16.3 Microduplication Phenotype and a Literature Review.Molecular syndromology · 2025Article
- Single-cell RNA sequencing identifies CXADR as a fate determinant of the placental exchange surface.Nature communications · 2025Article
- The secreted micropeptide C4orf48 enhances renal fibrosis via an RNA-binding mechanism.The Journal of clinical investigation · 2024Article
- A comprehensive assessment of exome capture methods for RNA sequencing of formalin-fixed and paraffin-embedded samples.BMC genomics · 2023Review
- Determinants of astrocytic pathology in stem cell models of primary tauopathies.Acta neuropathologica communications · 2023Article
- Determinants of Astrocytic Pathology in Stem Cell Models of Primary Tauopathies.bioRxiv : the preprint server for biology · 2023Article
- A small secreted protein NICOL regulates lumicrine-mediated sperm maturation and male fertility.Nature communications · 2023Article
- Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.Molecular cytogenetics · 2021Article
- Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.Molecular genetics & genomic medicine · 2021Review
- A novel risk score model for stomach adenocarcinoma based on the expression levels of 10 genes.Oncology letters · 2020Article
- The Many Faces ofFrontiers in physiology · 2019Article
- Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome.BioMed research international · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In order to identify novel genes involved in mental retardation/intellectual disability, we focused on a microdeletion reported in a patient with a mild form of Wolf-Hirschhorn syndrome. This patient presented with attention-deficit hyperactivity disorder, some learning and fine motor deficits as well as facial abnormalities. The deleted region included three genes. Here, we report the first characterization of one of these genes, C4ORF48. C4ORF48 encodes a short (139 aa) evolutionarily conserved protein with a predicted signal peptide and two potential dibasic convertase cleavage sites. In mice, we demonstrated expression of the corresponding protein exclusively in brain tissue using an anti-mouse C4Orf48 polyclonal antibody. Detailed RNA in situ hybridization experiments revealed expression of C4Orf48 in different zones during cortical and cerebellar development, as well as in almost all cortical and subcortical regions of the adult mouse brain. Based on the present data, we propose that C4Orf48 probably encodes a novel neuropeptide, which, if hemizygously deleted, may be involved in the observed intellectual and fine motor disabilities and thus in the overall neurological aspects of Wolf-Hirschhorn syndrome.
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