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

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 organiz ation of the gene encoding the p107 protein. The gene contains 22 exons spa nning over 100 kilobase pairs of genomic DNA. The length of individual exon s ranges from 50 to 840 base pairs. The arrays of exons in the p107 gene ar e rather similar among members of the gene family, especially to those of t he p130 gene, while the length of introns is extensively diverse. This stud y will provide a molecular basis for implementing comprehensive screening f or p107 mutations using genomic DNAs from human malignancies. We also show a detailed structure of an intragenic deletion of the p107 gen e found in a human B-cell lymphoma cell line, KAL-1. which was shown to occ ur by homologous recombination between the two directly repeated Alu family sequences. (C) 2000 Elsevier Science B.V. All rights reserved.