Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004135 (
ATM
)
13,001
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Ataxia telangiectasia
(
A-T
) is an autosomal recessive disease caused by loss of function of the serine/threonine protein kinase
ATM
(ataxia telangiectasia mutated).
A-T
patients have a 250-700-fold increased risk of developing lymphomas and leukemias which are typically highly invasive and proliferative. In addition, a subset of adult acute lymphoblastic leukemias and aggressive B-cell chronic lymphocytic leukemias that occur in the general population show loss of heterozygosity for
ATM
. To define the specific role of
ATM
in lymphomagenesis, we studied T-cell lymphomas isolated from mice with mutations in
ATM
and/or p53 using cytogenetic analysis and mRNA transcriptional profiling. The analyses identified genes misregulated as a consequence of the amplifications, deletions and translocation events arising as a result of
ATM
loss. A specific recurrent disruption of the granzyme gene family locus was identified resulting in an aberrant
granzyme B
/C fusion product. The combined application of cytogenetic and gene expression approaches identified specific loci and genes that define the pathway of initiation and progression of lymphoreticular malignancies in the absence of
ATM
.
...
PMID:Aberrant recombination involving the granzyme locus occurs in Atm-/- T-cell lymphomas. 1608 85
