ArticleThe Journal of biological chemistry2012
Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation.
Article in The Journal of biological chemistry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Electromagnetic exposure changes human Schwann cell motility and transcriptomic profile of hearing-loss-related genes.iScience · 2026Article
- Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.American journal of human genetics · 2026Article
- Molecular mechanisms of hotspot variants in cytoskeletal β-actin associated with Baraitser-Winter syndrome.The FEBS journal · 2025Article
- Histidine 73 methylation coordinates β-actin plasticity in response to key environmental factors.Nature communications · 2025Article
- Article
- The actin cytoskeleton in hair bundle development and hearing loss.Hearing research · 2023Review
- Bound nucleotide can control the dynamic architecture of monomeric actin.Nature structural & molecular biology · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- Amino acid 118 in the Deafness Causing (DFNA20/26)Gene reports · 2018Article
- STK16 regulates actin dynamics to control Golgi organization and cell cycle.Scientific reports · 2017Article
- Two Deafness-Causing Actin Mutations (DFNA20/26) Have Allosteric Effects on the Actin Structure.Biophysical journal · 2016Article
- Noise-induced cochlear F-actin depolymerization is mediated via ROCK2/p-ERM signaling.Journal of neurochemistry · 2015Article
- Aip1p dynamics are altered by the R256H mutation in actin.Journal of visualized experiments : JoVE · 2014Article
- Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.Human mutation · 2013Article
- Importance of a Lys113-Glu195 intermonomer ionic bond in F-actin stabilization and regulation by yeast formins Bni1p and Bnr1p.The Journal of biological chemistry · 2013Article
- Article
- FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro.PloS one · 2013Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Hearing requires proper function of the auditory hair cell, which is critically dependent upon its actin-based cytoskeletal structure. Currently, ten point mutations in nonmuscle γ-actin have been identified as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26), highlighting these ten residues as functionally important to actin structure and/or regulation. Two of the mutations, K118M and K118N, are located near the putative binding site for the ubiquitously expressed Arp2/3 complex. We therefore hypothesized that these mutations may affect Arp2/3-dependent regulation of the actin cytoskeleton. Using in vitro bulk polymerization assays, we show that the Lys-118 mutations notably reduce actin + Arp2/3 polymerization rates compared with WT. Further in vitro analysis of the K118M mutant using TIRF microscopy indicates the actual number of branches formed per filament is reduced compared with WT and, surprisingly, branch location is altered such that the majority of K118M branches form near the pointed end of the filament. These results highlight a previously unknown role for the Lys-118 residue in the actin-Arp2/3 interaction and also further suggest that Lys-118 may play a more significant role in intra- and intermonomer interactions than was initially hypothesized.
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