Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2

TY - JOUR

T1 - Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2

AU - Solman, Maja

AU - Woutersen, Daniëlle T J

AU - den Hertog, Jeroen

N1 - Copyright © 2022 Solman, Woutersen and den Hertog.

PY - 2022

Y1 - 2022

N2 - Src homology region 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2) is a highly conserved protein tyrosine phosphatase (PTP), which is encoded by PTPN11 and is indispensable during embryonic development. Mutations in PTPN11 in human patients cause aberrant signaling of SHP2, resulting in multiple rare hereditary diseases, including Noonan Syndrome (NS), Noonan Syndrome with Multiple Lentigines (NSML), Juvenile Myelomonocytic Leukemia (JMML) and Metachondromatosis (MC). Somatic mutations in PTPN11 have been found to cause cancer. Here, we focus on the role of SHP2 variants in rare diseases and advances in the understanding of its pathogenesis using model systems.

AB - Src homology region 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2) is a highly conserved protein tyrosine phosphatase (PTP), which is encoded by PTPN11 and is indispensable during embryonic development. Mutations in PTPN11 in human patients cause aberrant signaling of SHP2, resulting in multiple rare hereditary diseases, including Noonan Syndrome (NS), Noonan Syndrome with Multiple Lentigines (NSML), Juvenile Myelomonocytic Leukemia (JMML) and Metachondromatosis (MC). Somatic mutations in PTPN11 have been found to cause cancer. Here, we focus on the role of SHP2 variants in rare diseases and advances in the understanding of its pathogenesis using model systems.

U2 - 10.3389/fcell.2022.1046415

DO - 10.3389/fcell.2022.1046415

M3 - Book/Film/Article review

C2 - 36407105

SN - 2296-634X

VL - 10

SP - 1046415

JO - Frontiers in cell and developmental biology

JF - Frontiers in cell and developmental biology

ER -