Mutations in the retinoblastoma-related gene RB2/p130 in adult T-cell leukaemia/lymphoma.
The retinoblastoma (Rb) family consists of the tumor suppressor Rb/p105 and related proteins p107 and Rb2/p130. Although the involvement of the RB/p105 gene in Adult T-cell leukaemia/lymphoma (ATL) has been studied, no mutational data is reported regarding the RB2/p130 gene in ATL. We screened for mutations of the RB2/p130 gene. Mutation was detected in 1 of 41 primary ATL sample. This is the first report describing mutation of the RB2/p130 gene in ATL, suggesting that RB2/p130 may be involved in the development of ATL, and may behave as a tumor suppressor gene in T lymphocytes.
Takeuchi
Seisho
S
Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku, Kochi 783-8505, Japan. takeuti@kochi-ms.ac.jp
Takeuchi
Naoko
N
Tsukasaki
Kunihiro
K
Fermin
Anthony C
AC
De Vas
Sven
S
Seo
Hiromi
H
Koeffler
H Phillip
HP
D002453:Cell Cycle; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D015458:Leukemia, T-Cell / Q000235:genetics*; D008223:Lymphoma / Q000235:genetics*; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins; D050717:Retinoblastoma-Like Protein p130; D013601:T-Lymphocytes / Q000378:metabolism
D010750:Phosphoproteins; D011506:Proteins; C493837:RBL2 protein, human; D050717:Retinoblastoma-Like Protein p130