ArticleExperimental hematology2011
A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.
Article in Experimental hematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 22 papers.
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22 citing papers in PubMed, 25 citations in OpenAlex.
- A PathogenicHuman mutation · 2026Article
- Ankyrins are dispensable for mechanotransduction by cochlear hair cells.Hearing research · 2025Article
- Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Scientific reports · 2024Article
- A novel ENU-induced Cpox mutation causes microcytic hypochromic anemia in mice.Experimental animals · 2022Article
- Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.Molecular genetics & genomic medicine · 2021Article
- Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.Annals of translational medicine · 2019Article
- Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.Journal of cellular and molecular medicine · 2019Article
- A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.BMC pediatrics · 2019Article
- Identification of a novelOncotarget · 2017Article
- New insights on hereditary erythrocyte membrane defects.Haematologica · 2016Review
- Article
- Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.PloS one · 2015Article
- Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Molecular and cellular biology · 2014Article
- A deep intronic mutation in the ankyrin-1 gene causes diminished protein expression resulting in hemolytic anemia in mice.G3 (Bethesda, Md.) · 2013Article
- Suppression of hepcidin expression and iron overload mediate Salmonella susceptibility in ankyrin 1 ENU-induced mutant.PloS one · 2013Article
- Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.PloS one · 2013Article
- Characterization of ENU-induced Mutations in Red Blood Cell Structural Proteins.Computational and structural biotechnology journal · 2013Article
- Identification of contact sites between ankyrin and band 3 in the human erythrocyte membrane.Biochemistry · 2012Article
- Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.Molecular biology of the cell · 2012Article
- Analysis of the mobilities of band 3 populations associated with ankyrin protein and junctional complexes in intact murine erythrocytes.The Journal of biological chemistry · 2012Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 8 institutions in 2 countries.
Funding
Abstract
objectiveHereditary spherocytosis (HS) is a heterogeneous group of spontaneously arising and inherited red blood cell disorders ranging from very mild subclinical cases to severe and life-threatening cases, with symptoms linked directly to the severity of the mutation at the molecular level. We investigated a novel mouse model in which the heterozygotes present with the diagnostic hallmarks of mild HS and surviving homozygotes phenocopy severe hemolytic HS. MATERIALS AND
methodsWe used N-ethyl-N-nitrosourea mutagenesis to generate random point mutations in the mouse genome and a dominant screen to identify mouse models of human hematopoietic disease. Gene mapping of the HS strain revealed a unique in-frame nonsense mutation arising from a single base transversion in exon 27 of Ank1 (strain designation: Ank1(E924X)). Employing conventional hematopoietic, pathological, biochemical, and cell biology assays, we characterized heterozygous and homozygous Ank1(E924X) mice at the biochemical, cellular, and pathophysiological levels.
resultsAlthough Ank1(E924X/E924X) red blood cell ghosts lack abundant full-length ankyrin-1 isoforms, N-terminal epitope ankyrin-1 antibodies reveal a band consistent with the theoretical size of a truncated mutant ankyrin-1. Using domain-specific antibodies, we further show that this protein lacks both a spectrin-binding domain and a C-terminal regulatory domain. Finally, using antisera that detect C-terminal residues of the products of alternative Ank1 transcripts, we find unique immunoreactive bands not observed in red blood cell ghosts from wild-type or Ank1(E924X) heterozygous mice, including a band similar in size to full-length ankyrin-1.
conclusionsThe Ank1(E924X) strain provides a novel tool to study Ank1 and model HS.
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