ATG2B (Autophagy-related 2B)

Show simple item record Bellanné-Chantelot, Christine - Plo, Isabelle - 2018-08-22T14:31:40Z 2018-08-22T14:31:40Z 2017 -
dc.identifier.citation Christine, Bellanné-Chantelot ; Isabelle, Plo. ATG2B (Autophagy-related 2B). Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017, 6, p. 205-207 -
dc.identifier.issn 1768-3262
dc.description.abstract Autophagy is a cellular process involved in the sequestration of cytosolic components and their degradation by lysosomes. Autophagy has been involved in physiological responses to stress or aging and in the development of many human diseases including solid and haematological cancers. In humans, 16 autophagy-related genes are known. The ATG2B protein is involved in the late steps of the autophagy process i.e. the formation of autophagosomes that fuse with lysosomes before degradation. Loss-of -function (frameshift) acquired mutations of ATG2B have been identified in gastric and colorectal carcinomas with high microsatellite instability. Both pharmacologic and genetic evidence indicate that autophagy plays pleiotropic functions in hematopoietic cell homeostasis and leukemogeneis. Autophagy could exert two opposite roles (cell death and survival) depending on the nature of the hematopoietic malignancy. The germline duplication of ATG2B and GSKIP, both located in 14q32.2, predisposes to the development of familial myeloproliferative neoplasms with autosomal dominant inheritance, in particular essential thrombocythemia progressing to leukemia. Overexpression of ATG2B and GSKIP enhances megakaryocyte progenitor differentiation by increasing progenitor sensitivity to thrombopoietin. Both genes cooperate with somatic JAK2, MPL and CALR mutations and their overexpression provides a growth advantage to hematopoietic cells carrying these driver mutations that may explain the familial aggregation and the progression of essential thrombocythemia to myelofibrosis and leukemia. en
dc.language.iso en -
dc.publisher ARMGHM - Atlas Génétique des Cancers -
dc.relation Atlas of Genetics and Cytogenetics in Oncology and Haematology ; -
dc.relation.ispartofseries Atlas of Genetics and Cytogenetics in Oncology and Haematology en
dc.rights Open access resource - terms and conditions : -
dc.subject ATG2B en
dc.subject Myeloproliferative neoplasms (MPN) en
dc.subject essential thrombocythemia en
dc.subject myelofibrosis en
dc.subject leukemia en
dc.subject predisposition en
dc.subject ATG2B/GSKIP en
dc.subject chromosome 14 en
dc.subject CNV en
dc.subject autophagy en
dc.subject Wnt/beta-catenin pathway en
dc.subject.classification Genes Section en
dc.subject.mesh Adolescent en
dc.subject.mesh Adult en
dc.subject.mesh Aged en
dc.subject.mesh Autophagy-Related Proteins en
dc.subject.mesh Child en
dc.subject.mesh Chromosomes, Human, Pair 14 en
dc.subject.mesh Female en
dc.subject.mesh *Gene Duplication en
dc.subject.mesh *Genetic Predisposition to Disease en
dc.subject.mesh *Germ Cells en
dc.subject.mesh Humans en
dc.subject.mesh Induced Pluripotent Stem Cells/cytology en
dc.subject.mesh Infant en
dc.subject.mesh Leukemia, Myeloid, Acute/*genetics en
dc.subject.mesh Male en
dc.subject.mesh Myelodysplastic Syndromes/*genetics en
dc.title ATG2B (Autophagy-related 2B) en
dc.type Article -
dc.contributor.affiliation Département de Génétique, Hôpitaux Universitaires Pitié-Salpétrière-Charles Foix, Paris (CBC) -
dc.contributor.affiliation INSERM UMR1170, Institut Gustave Roussy, Villejuif, (CBC, IP), France -

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