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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Deleterious and Oncogenic Mutations in the IL7RA

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Campos, Livia Weijenborg [1, 2] ; Pissinato, Leonardo Granato [1, 2] ; Yunes, Jose Andres [1, 3]
Total Authors: 3
[1] Ctr Infantil Boldrini, BR-13083210 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Grad Program Genet & Mol Biol, BR-13083210 Campinas, SP - Brazil
[3] Univ Estadual Campinas, Fac Med Sci, Med Genet Dept, BR-13083894 Campinas, SP - Brazil
Total Affiliations: 3
Document type: Review article
Source: CANCERS; v. 11, n. 12 DEC 2019.
Web of Science Citations: 0

Interleukin 7 (IL-7) is a critical cytokine that plays a fundamental role in B- and T-cell development and in acute lymphoblastic leukemia (ALL). Its receptor (IL7R) is a transmembrane heterodimer formed by the IL7R alpha and the IL2R gamma chain (gamma c). The IL7R signals through the JAK/STAT pathway. Loss-of-function mutations and some polymorphisms of the IL7R alpha were associated to immunodeficiency and inflammatory diseases, respectively. Gain-of-function mutations were described in T-cell ALL and in high risk precursor B-cell ALL. Most confirmed loss-of-function mutations occur in the extracellular part of the IL7R alpha while oncogenic mutations are exclusively found in the extracellular juxtamembrane (EJM) or transmembrane regions. Oncogenic mutations promote either IL7R alpha/IL7R alpha homodimerization and constitutive signaling, or increased affinity to gamma c or IL-7. This work presents a review on IL7R alpha polymorphisms/mutations and attempts to present a classification based on their structural consequences and resulting biological activity. (AU)

FAPESP's process: 12/12802-1 - Cooperating mutations, functional studies and antibodies against the mutant IL7R in acute lymphoblastic leukemia
Grantee:José Andrés Yunes
Support type: Regular Research Grants
FAPESP's process: 14/20015-5 - Aberrant IL7R signaling in leukemogenesis: from the basics to potential therapeutics
Grantee:José Andrés Yunes
Support type: Regular Research Grants