Loss of Dynamin 2 GTPase function results in microcytic anaemia.
Identifieur interne : 000868 ( Main/Exploration ); précédent : 000867; suivant : 000869Loss of Dynamin 2 GTPase function results in microcytic anaemia.
Auteurs : Fiona C. Brown [Australie] ; Michael Collett [Australie] ; Cedric S. Tremblay [Australie] ; Gerhard Rank [Australie] ; Pietro De Camilli [États-Unis] ; Carmen J. Booth [États-Unis] ; Marc Bitoun [France] ; Phillip J. Robinson [Australie] ; Benjamin T. Kile [Australie] ; Stephen M. Jane [Australie] ; David J. Curtis [Australie]Source :
- British journal of haematology [ 1365-2141 ] ; 2017.
Descripteurs français
- KwdFr :
- Animaux, Anémie hypochrome (génétique), Anémie hypochrome (sang), Cartographie chromosomique (), Dynamine-II (déficit), Dynamine-II (génétique), Dynamine-II (physiologie), Endocytose (génétique), Endocytose (physiologie), Génotype, Modèles animaux de maladie humaine, Mutation faux-sens, Souris knockout, Séquençage nucléotidique à haut débit (), Transferrine (métabolisme), Érythrocytes (anatomopathologie), Érythrocytes (métabolisme).
- MESH :
- anatomopathologie : Érythrocytes.
- déficit : Dynamine-II.
- génétique : Anémie hypochrome, Dynamine-II, Endocytose.
- métabolisme : Transferrine, Érythrocytes.
- physiologie : Dynamine-II, Endocytose.
- sang : Anémie hypochrome.
- Animaux, Cartographie chromosomique, Génotype, Modèles animaux de maladie humaine, Mutation faux-sens, Souris knockout, Séquençage nucléotidique à haut débit.
English descriptors
- KwdEn :
- Anemia, Hypochromic (blood), Anemia, Hypochromic (genetics), Animals, Chromosome Mapping (methods), Disease Models, Animal, Dynamin II (deficiency), Dynamin II (genetics), Dynamin II (physiology), Endocytosis (genetics), Endocytosis (physiology), Erythrocytes (metabolism), Erythrocytes (pathology), Genotype, High-Throughput Nucleotide Sequencing (methods), Mice, Knockout, Mutation, Missense, Transferrin (metabolism).
- MESH :
- chemical , deficiency : Dynamin II.
- blood : Anemia, Hypochromic.
- genetics : Anemia, Hypochromic, Dynamin II, Endocytosis.
- metabolism : Erythrocytes, Transferrin.
- methods : Chromosome Mapping, High-Throughput Nucleotide Sequencing.
- pathology : Erythrocytes.
- chemical , physiology : Dynamin II, Endocytosis.
- Animals, Disease Models, Animal, Genotype, Mice, Knockout, Mutation, Missense.
Abstract
In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state. Dnm2 is an essential mediator of clathrin-mediated endocytosis, which is required for the uptake of transferrin (Tf) into red cells for incorporation of haem. Accordingly, we observed significantly reduced Tf uptake by Dnm2(+/V235G) cells, which led to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in Dnm2(+/V235G) mice. This study provides the first in vivo evidence for the requirements of Dnm2 in normal erythropoiesis.
DOI: 10.1111/bjh.14709
PubMed: 28466468
Affiliations:
- Australie, France, États-Unis
- Connecticut, Nouvelle-Galles du Sud, Île-de-France
- Paris, Sydney
- Université de Sydney
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Le document en format XML
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Brown</name><affiliation wicri:level="1"><nlm:affiliation>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic., Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author><author><name sortKey="Collett, Michael" sort="Collett, Michael" uniqKey="Collett M" first="Michael" last="Collett">Michael Collett</name><affiliation wicri:level="4"><nlm:affiliation>Cell Signalling Unit, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cell Signalling Unit, Children's Medical Research Institute, The University of Sydney, Sydney, NSW</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Tremblay, Cedric S" sort="Tremblay, Cedric S" uniqKey="Tremblay C" first="Cedric S" last="Tremblay">Cedric S. Tremblay</name><affiliation wicri:level="1"><nlm:affiliation>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic., Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author><author><name sortKey="Rank, Gerhard" sort="Rank, Gerhard" uniqKey="Rank G" first="Gerhard" last="Rank">Gerhard Rank</name><affiliation wicri:level="1"><nlm:affiliation>Rotary Bone Marrow Research Laboratory, Royal Melbourne Hospital, Melbourne, Vic., Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Rotary Bone Marrow Research Laboratory, Royal Melbourne Hospital, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author><author><name sortKey="De Camilli, Pietro" sort="De Camilli, Pietro" uniqKey="De Camilli P" first="Pietro" last="De Camilli">Pietro De Camilli</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Neuroscience and Cell Biology, Howard Hughes Medical Institute, Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neuroscience and Cell Biology, Howard Hughes Medical Institute, Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT</wicri:regionArea><placeName><region type="state">Connecticut</region></placeName></affiliation></author><author><name sortKey="Booth, Carmen J" sort="Booth, Carmen J" uniqKey="Booth C" first="Carmen J" last="Booth">Carmen J. Booth</name><affiliation wicri:level="2"><nlm:affiliation>Section of Comparative Medicine, Yale University School of Medicine, New Haven, CT, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Section of Comparative Medicine, Yale University School of Medicine, New Haven, CT</wicri:regionArea><placeName><region type="state">Connecticut</region></placeName></affiliation></author><author><name sortKey="Bitoun, Marc" sort="Bitoun, Marc" uniqKey="Bitoun M" first="Marc" last="Bitoun">Marc Bitoun</name><affiliation wicri:level="3"><nlm:affiliation>Research Centre for Myology, UPMC Univ Paris 06 and INSERM UMRS 974, CNRS FRE 3617, Institute of Myology, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Research Centre for Myology, UPMC Univ Paris 06 and INSERM UMRS 974, CNRS FRE 3617, Institute of Myology, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Robinson, Phillip J" sort="Robinson, Phillip J" uniqKey="Robinson P" first="Phillip J" last="Robinson">Phillip J. Robinson</name><affiliation wicri:level="4"><nlm:affiliation>Cell Signalling Unit, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Cell Signalling Unit, Children's Medical Research Institute, The University of Sydney, Sydney, NSW</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Kile, Benjamin T" sort="Kile, Benjamin T" uniqKey="Kile B" first="Benjamin T" last="Kile">Benjamin T. 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Jane</name><affiliation wicri:level="1"><nlm:affiliation>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic., Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author><author><name sortKey="Curtis, David J" sort="Curtis, David J" uniqKey="Curtis D" first="David J" last="Curtis">David J. Curtis</name><affiliation wicri:level="1"><nlm:affiliation>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic., Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Centre for Blood Diseases, Central Clinical School, Monash University and Alfred Health, Melbourne, Vic.</wicri:regionArea><wicri:noRegion>Vic.</wicri:noRegion></affiliation></author></analytic><series><title level="j">British journal of haematology</title><idno type="eISSN">1365-2141</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Anemia, Hypochromic (blood)</term><term>Anemia, Hypochromic (genetics)</term><term>Animals</term><term>Chromosome Mapping (methods)</term><term>Disease Models, Animal</term><term>Dynamin II (deficiency)</term><term>Dynamin II (genetics)</term><term>Dynamin II (physiology)</term><term>Endocytosis (genetics)</term><term>Endocytosis (physiology)</term><term>Erythrocytes (metabolism)</term><term>Erythrocytes (pathology)</term><term>Genotype</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>Mice, Knockout</term><term>Mutation, Missense</term><term>Transferrin (metabolism)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term><term>Anémie hypochrome (génétique)</term><term>Anémie hypochrome (sang)</term><term>Cartographie chromosomique ()</term><term>Dynamine-II (déficit)</term><term>Dynamine-II (génétique)</term><term>Dynamine-II (physiologie)</term><term>Endocytose (génétique)</term><term>Endocytose (physiologie)</term><term>Génotype</term><term>Modèles animaux de maladie humaine</term><term>Mutation faux-sens</term><term>Souris knockout</term><term>Séquençage nucléotidique à haut débit ()</term><term>Transferrine (métabolisme)</term><term>Érythrocytes (anatomopathologie)</term><term>Érythrocytes (métabolisme)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Dynamin II</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Érythrocytes</term></keywords><keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Anemia, Hypochromic</term></keywords><keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Dynamine-II</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Anemia, Hypochromic</term><term>Dynamin II</term><term>Endocytosis</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anémie hypochrome</term><term>Dynamine-II</term><term>Endocytose</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Erythrocytes</term><term>Transferrin</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Chromosome Mapping</term><term>High-Throughput Nucleotide Sequencing</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Transferrine</term><term>Érythrocytes</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Erythrocytes</term></keywords><keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Dynamine-II</term><term>Endocytose</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Dynamin II</term><term>Endocytosis</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Anémie hypochrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Disease Models, Animal</term><term>Genotype</term><term>Mice, Knockout</term><term>Mutation, Missense</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Cartographie chromosomique</term><term>Génotype</term><term>Modèles animaux de maladie humaine</term><term>Mutation faux-sens</term><term>Souris knockout</term><term>Séquençage nucléotidique à haut débit</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state. Dnm2 is an essential mediator of clathrin-mediated endocytosis, which is required for the uptake of transferrin (Tf) into red cells for incorporation of haem. Accordingly, we observed significantly reduced Tf uptake by Dnm2(+/V235G) cells, which led to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in Dnm2(+/V235G) mice. This study provides the first in vivo evidence for the requirements of Dnm2 in normal erythropoiesis.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>États-Unis</li></country><region><li>Connecticut</li><li>Nouvelle-Galles du Sud</li><li>Île-de-France</li></region><settlement><li>Paris</li><li>Sydney</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="Australie"><noRegion><name sortKey="Brown, Fiona C" sort="Brown, Fiona C" uniqKey="Brown F" first="Fiona C" last="Brown">Fiona C. Brown</name></noRegion><name sortKey="Collett, Michael" sort="Collett, Michael" uniqKey="Collett M" first="Michael" last="Collett">Michael Collett</name><name sortKey="Curtis, David J" sort="Curtis, David J" uniqKey="Curtis D" first="David J" last="Curtis">David J. Curtis</name><name sortKey="Jane, Stephen M" sort="Jane, Stephen M" uniqKey="Jane S" first="Stephen M" last="Jane">Stephen M. Jane</name><name sortKey="Kile, Benjamin T" sort="Kile, Benjamin T" uniqKey="Kile B" first="Benjamin T" last="Kile">Benjamin T. Kile</name><name sortKey="Rank, Gerhard" sort="Rank, Gerhard" uniqKey="Rank G" first="Gerhard" last="Rank">Gerhard Rank</name><name sortKey="Robinson, Phillip J" sort="Robinson, Phillip J" uniqKey="Robinson P" first="Phillip J" last="Robinson">Phillip J. Robinson</name><name sortKey="Tremblay, Cedric S" sort="Tremblay, Cedric S" uniqKey="Tremblay C" first="Cedric S" last="Tremblay">Cedric S. Tremblay</name></country><country name="États-Unis"><region name="Connecticut"><name sortKey="De Camilli, Pietro" sort="De Camilli, Pietro" uniqKey="De Camilli P" first="Pietro" last="De Camilli">Pietro De Camilli</name></region><name sortKey="Booth, Carmen J" sort="Booth, Carmen J" uniqKey="Booth C" first="Carmen J" last="Booth">Carmen J. Booth</name></country><country name="France"><region name="Île-de-France"><name sortKey="Bitoun, Marc" sort="Bitoun, Marc" uniqKey="Bitoun M" first="Marc" last="Bitoun">Marc Bitoun</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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