ArticlePloS one2012
A novel mouse Dscam mutation inhibits localization and shedding of DSCAM.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Time-resolved morphological and transcriptomic characterization of early enteric neuron subtype emergence in chick.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Future Directions for Studying the Potential of Mammalian Dscam in Autism Spectrum Disorder and Alzheimer's Disease: Insights from Dose Sensitivity.Molecular neurobiology · 2025Review
- FromFrontiers in immunology · 2025Review
- Pten regulates endocytic trafficking of cell adhesion and Wnt signaling molecules to pattern the retina.Cell reports · 2024Article
- The role of Down syndrome cell adhesion molecule in Down syndrome.Medical review (2021) · 2024Review
- DSCAM gene triplication causes excessive GABAergic synapses in the neocortex in Down syndrome mouse models.PLoS biology · 2023Article
- Dual Leucine Zipper Kinase Regulates Dscam Expression through a Noncanonical Function of the Cytoplasmic Poly(A)-Binding Protein.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Role of DSCAM in the Development of Neural Control of Movement and Locomotion.International journal of molecular sciences · 2021Review
- Nuclear import of the DSCAM-cytoplasmic domain drives signaling capable of inhibiting synapse formation.The EMBO journal · 2019Article
- A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21.European journal of human genetics : EJHG · 2019Article
- DSCAM promotes self-avoidance in the developing mouse retina by masking the functions of cadherin superfamily members.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Expression patterns ofMolecular vision · 2018Article
- SheddomeDB: the ectodomain shedding database for membrane-bound shed markers.BMC bioinformatics · 2017Review
- DSCAM promotes axon fasciculation and growth in the developing optic pathway.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Article
- Dscam1 Forms a Complex with Robo1 and the N-Terminal Fragment of Slit to Promote the Growth of Longitudinal Axons.PLoS biology · 2016Article
- Novel axon projection after stress and degeneration in the Dscam mutant retina.Molecular and cellular neurosciences · 2016Article
- Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM.Journal of neurophysiology · 2016Article
- Role of DSCAM in the development of the spinal locomotor and sensorimotor circuits.Journal of neurophysiology · 2016Article
- DSCAM promotes refinement in the mouse retina through cell death and restriction of exploring dendrites.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
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Authors and funding
7 authors at 3 institutions in 1 country.
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Abstract
The differential adhesion hypothesis of development states that patterning of organisms, organs and tissues is mediated in large part by expression of cell adhesion molecules. The cues provided by cell adhesion molecules are also hypothesized to facilitate specific connectivity within the nervous system. In this study we characterize a novel mouse mutation in the gene Dscam (Down Syndrome Cell Adhesion Molecule). Vertebrate DSCAM is required for normal development of the central nervous system and has been best characterized in the visual system. In the visual system DSCAM is required for regulation of cell number, mosaic formation, laminar specificity, and refinement of retinal-tectal projections. We have identified a novel mutation in Dscam that results in a single amino acid substitution, R1018P, in the extracellular domain of the DSCAM protein. Mice homozygous for the R1018P mutation develop a subset of defects observed in Dscam null mice. In vitro analysis identified defects in DSCAM(R1018P) localization to filopodia. We also find that wild type DSCAM protein is constitutively cleaved and shed from transfected cells. This secretion is inhibited by the R1018P mutation. We also characterized a novel splice isoform of Dscam and identified defects in lamination of type 2 and type 6 cone bipolar cells in Dscam mutant mice. The identification and characterization of partial loss of function mutations in genes such as Dscam will be helpful in predicting signs and symptoms that may be observed in human patients with partial loss of DSCAM function.
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