Structure of the human retinoblastoma-related p107 gene and its intragenic deletion in a B-cell lymphoma cell line.

Abstract The human p107 protein shares many structural and functional features with the retinoblastoma gene product and retinoblastoma-related p130 protein. In this study, we have cloned and elucidated the complete intron–exon organization of the gene encoding the p107 protein. The gene contains 22 exons spanning over 100 kilobase pairs of genomic DNA. The length of individual exons ranges from 50 to 840 base pairs. The arrays of exons in the p107 gene are rather similar among members of the gene family, especially to those of the p130 gene, while the length of introns is extensively diverse. This study will provide a molecular basis for implementing comprehensive screening for p107 mutations using genomic DNAs from human malignancies. We also show a detailed structure of an intragenic deletion of the p107 gene found in a human B-cell lymphoma cell line, KAL-1, which was shown to occur by homologous recombination between the two directly repeated Alu family sequences.