ArticleHuman molecular genetics2010
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
Article in Human molecular genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 83 citations in OpenAlex.
- NHSL3 knockout modulates sorafenib response, growth, and motility in hepatocellular carcinoma cell models.Molecular biology reports · 2026Article
- The Nance-Horan syndrome protein NHS regulates cell migration persistence by organizing WAVE and N-WASP nucleation-promoting factor complexes.The Journal of biological chemistry · 2026Article
- Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.American journal of medical genetics. Part A · 2026Article
- Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations.Pediatric research · 2026Article
- Distinct Pathogenic Mechanisms of Two Novel NHS Mutations Identified in Chinese Han Families With Nance-Horan Syndrome.Human mutation · 2026Article
- Gene polymorphisms associated with corneal curvature, astigmatism and its vector components in children.Eye and vision (London, England) · 2025Article
- Nance-Horan-syndrome-like 1b controls mesodermal cell migration by regulating protrusion and actin dynamics during zebrafish gastrulation.Communications biology · 2025Article
- Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.BMC ophthalmology · 2025Article
- Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.Genes · 2025Article
- NHSL3 controls single and collective cell migration through two distinct mechanisms.Nature communications · 2025Article
- Discovery of mass spectral peak markers and protein biomarkers in fish muscle exudates for rapid and precise recognition of fish species via magnetic beads (MBs) and mass spectrometry.Food chemistry: X · 2024Article
- Genome-wide association study for growth traits with 1066 individuals in largemouth bass (Frontiers in molecular biosciences · 2024Article
- PPP2R1A regulates migration persistence through the NHSL1-containing WAVE Shell Complex.Nature communications · 2023Article
- Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.Journal of clinical medicine · 2023Article
- The epithelial polarity genes frazzled and GUK-holder adjust morphogen gradients to coordinate changes in cell position with cell fate specification.PLoS biology · 2023Article
- Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation.Biology · 2023Article
- Regulation of the Scar/WAVE complex in migrating cells: A summary of our understanding.Journal of biosciences · 2023Review
- Determination of miRNA expression profile in patients with prostate cancer and benign prostate hyperplasia.Turkish journal of medical sciences · 2022Article
- Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation.Blood advances · 2022Article
- OpenCell: Endogenous tagging for the cartography of human cellular organization.Science (New York, N.Y.) · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Nance-Horan syndrome (NHS) is an X-linked developmental disorder, characterized by bilateral congenital cataracts, dental anomalies, facial dysmorphism and mental retardation. Null mutations in a novel gene, NHS, cause the syndrome. The NHS gene appears to have multiple isoforms as a result of alternative transcription, but a cellular function for the NHS protein has yet to be defined. We describe NHS as a founder member of a new protein family (NHS, NHSL1 and NHSL2). Here, we demonstrate that NHS is a novel regulator of actin remodelling and cell morphology. NHS localizes to sites of cell-cell contact, the leading edge of lamellipodia and focal adhesions. The N-terminus of isoforms NHS-A and NHS-1A, implicated in the pathogenesis of NHS, have a functional WAVE homology domain that interacts with the Abi protein family, haematopoietic stem/progenitor cell protein 300 (HSPC300), Nap1 and Sra1. NHS knockdown resulted in the disruption of the actin cytoskeleton. We show that NHS controls cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. NHS knockdown led to a striking increase in cell spreading. Conversely, ectopic overexpression of NHS inhibited lamellipod formation. Remodelling of the actin cytoskeleton and localized actin polymerization into branched actin filaments at the plasma membrane are essential for mediating changes in cell shape, migration and cell contact. Our data identify NHS as a new regulator of actin remodelling. We suggest that NHS orchestrates actin regulatory protein function in response to signalling events during development.
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