title: Mutations in the retinoblastoma-related gene RB2/p130 in adult T-cell leukaemia/lymphoma.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku, Kochi 783-8505, Japan. takeuti@kochi-ms.ac.jp
authors.forename: Seisho
authors.initials: S
authors.lastname: Takeuchi
authors.forename: Naoko
authors.initials: N
authors.lastname: Takeuchi
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Tsukasaki
authors.forename: Anthony C
authors.initials: AC
authors.lastname: Fermin
authors.forename: Sven
authors.initials: S
authors.lastname: De Vas
authors.forename: Hiromi
authors.initials: H
authors.lastname: Seo
authors.forename: H Phillip
authors.initials: HP
authors.lastname: Koeffler
mesh_terms: 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
chemical_list: D010750:Phosphoproteins; D011506:Proteins; C493837:RBL2 protein, human; D050717:Retinoblastoma-Like Protein p130