ArticleScience (New York, N.Y.)2014
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.
Article in Science (New York, N.Y.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers.
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Who cites it
113 citing papers in PubMed, 231 citations in OpenAlex.
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- So Fragile, So Human: Noncoding DNA Regions Orchestrating Gene Expression Involved in Neurodevelopmental Disorders and in Human Brain Evolution.International journal of molecular sciences · 2026Review
- Fractal analysis of brain shape formation predicts age and genetic similarity in human newborns.Nature neuroscience · 2026Article
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- Graph-based prototype inverse-projection for identifying cortical sulcal pattern abnormalities in congenital heart disease.Medical image analysis · 2025Article
- Conformational coupling between extracellular and transmembrane domains modulates holo-adhesion GPCR function.Nature communications · 2024Article
- CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.Briefings in bioinformatics · 2024Article
- Modularization of adhesion G protein-coupled receptor (aGPCR) structure: how alternative splicing regulates synaptogenesis.Signal transduction and targeted therapy · 2024Article
- The repertoire and structure of adhesion GPCR transcript variants assembled from publicly available deep-sequenced human samples.Nucleic acids research · 2024Article
- CWAS-Plus: Estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.medRxiv : the preprint server for health sciences · 2024Article
- The growth factor EPIREGULIN promotes basal progenitor cell proliferation in the developing neocortex.The EMBO journal · 2024Article
- Association between placental oxygen transport and fetal brain cortical development: a study in monochorionic diamniotic twins.Cerebral cortex (New York, N.Y. : 1991) · 2024Article
- Shaping the brain: The emergence of cortical structure and folding.Developmental cell · 2023Review
- Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression.Diabetologia · 2023Article
- Role of intracortical neuropil growth in the gyrification of the primate cerebral cortex.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Human SERPINA3 induces neocortical folding and improves cognitive ability in mice.Cell discovery · 2022Article
- ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.American journal of human genetics · 2022Article
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53 more citing papers are in PubMed but not listed here.
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20 authors at 5 institutions in 3 countries.
Funding
Abstract
The human neocortex has numerous specialized functional areas whose formation is poorly understood. Here, we describe a 15-base pair deletion mutation in a regulatory element of GPR56 that selectively disrupts human cortex surrounding the Sylvian fissure bilaterally including "Broca's area," the primary language area, by disrupting regional GPR56 expression and blocking RFX transcription factor binding. GPR56 encodes a heterotrimeric guanine nucleotide-binding protein (G protein)-coupled receptor required for normal cortical development and is expressed in cortical progenitor cells. GPR56 expression levels regulate progenitor proliferation. GPR56 splice forms are highly variable between mice and humans, and the regulatory element of gyrencephalic mammals directs restricted lateral cortical expression. Our data reveal a mechanism by which control of GPR56 expression pattern by multiple alternative promoters can influence stem cell proliferation, gyral patterning, and, potentially, neocortex evolution.
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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.