作者: Tsutomu Nobori , Kaoru Miura , David J. Wu , Augusto Lois , Kenji Takabayashi
DOI: 10.1038/368753A0
关键词: Dysplastic nevus syndrome 、 Neoplastic transformation 、 Positional cloning 、 Nonsense mutation 、 Cancer research 、 Gene 、 Complementary DNA 、 Molecular biology 、 Cyclin-dependent kinase 4 、 Southern blot 、 Biology
摘要: CYTOGENETIC abnormalities of chromosome 9p21 are characteristic malignant melanomas1,2, gliomas3, lung cancers4 and leukaemias5. From a panel 46 human cell lines, we localized by positional cloning the most frequently deleted region on 9p21. Sequence analysis isolated fragment reveals two open reading frames identical to recently described complementary DNA for inhibitor cyclin-dependent kinase 4 (CDK4) 6. Polymerase chain reaction Southern blot confirmed frequent deletion or rearrangement CDK4-inhibitor gene in melanomas, gliomas, cancers leukaemias, absence detectable transcripts. One carcinoma had entirely within gene. The from patient with dysplastic nevus syndrome germ-line nonsense mutation. CDK4 is thought be physiological suppressor proliferation. Cells unable produce may prone neoplastic transformation.