Structure of the human retinoblastoma gene

Journal Article · Sat Jul 01 00:00:00 EDT 1989 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.86.14.5502· OSTI ID:5433732

Hong, F D; Huang, Hueijen S; To, Hoang; Young, Lihjiuan S; Oro, A; Bookstein, R; Lee, E Y.H.P.; Lee, Wenhwa ^[1]

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1. Univ. of California at San Diego, La Jolla (USA)

Complete inactivation of the human retinoblastoma gene (RB) is believed to be an essential step in tumorigenesis of several different cancers. To provide a framework for understanding inactivation mechanisms, the structure of RB was delineated. The RB transcript is encoded in 27 exons dispersed over about 200 kilobases (kb) of genomic DNA. The length of individual exons ranges from 31 to 1,889 base pairs (bp). The largest intron spans >60 kb and the smallest one has only 80 bp. Deletion of exons 13-17 is frequently observed in various types of tumors, including retinoblastoma, breast cancer, and osteosarcoma, and the presence of a potential hot spot for recombination in the region is predicted. A putative leucine-zipper motif is exclusively encoded by exon 20. The detailed RB structure presented should prove useful in defining potential functional domains of its encoded protein. Transcription of RB is initiated at multiple positions and the sequences surrounding the initiation sites have a high G+C content. A typical upstream TATA box is not present. Localization of the RB promoter region was accomplished by utilizing a heterologous expression system containing a bacterial chloramphenicol acetyltransferase gene. Deletion analysis revealed that a region as small as 70 bp is sufficient for RB promoter activity, similar to other previously characterized G+C-rich gene promoters. Several direct repeats and possible stem-and-loop structures are found in the promoter region.

• OSTI ID: 5433732
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:14; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CARCINOGENESIS
GENETICS
GENE REPRESSORS
GENETIC MAPPING
GENES
MOLECULAR STRUCTURE
DNA SEQUENCING
ENZYME ACTIVITY
INACTIVATION
MESSENGER-RNA
NEOPLASMS
TRANSCRIPTION
TRANSFERASES
BIOLOGY
DISEASES
ENZYMES
MAPPING
NUCLEIC ACIDS
NUCLEOPROTEINS
ORGANIC COMPOUNDS
PATHOGENESIS
PROTEINS
RNA
STRUCTURAL CHEMICAL ANALYSIS
550201* - Biochemistry- Tracer Techniques