Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant

Stable Identifier
R-HSA-2660825
Type
Pathway
Species
Homo sapiens
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Human NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). The translocated gene was found to be homologous to Drosophila Notch, and was initially named TAN-1 (translocation-associated Notch homolog). Although the translocation t(7;9)(q34;q34.3) is present in a small percentage of T-ALL patients, the mutant protein is highly oncogenic and its overexpression causes T-ALL-like illness in mice (Pear et al. 1996).

Literature References
PubMed ID Title Journal Year
8642337 Exclusive development of T cell neoplasms in mice transplanted with bone marrow expressing activated Notch alleles

Soffer, B, Sklar, J, Baltimore, D, Pear, WS, Aster, JC, Scott, ML, Hasserjian, RP

J. Exp. Med. 1996
1831692 TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

Smith, SD, Sklar, J, Ellisen, LW, Bird, J, West, DC, Soreng, AL, Reynolds, TC

Cell 1991
Participants
Participates
Disease
Name Identifier Synonyms
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
T-cell leukemia DOID:715
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