Human retinoblastoma gene

Journal Article · Sat Apr 01 00:00:00 EST 1989 · Molecular and Cellular Biology; (USA)

DOI:https://doi.org/10.1128/MCB.9.4.1628· OSTI ID:5601579

Bookstein, R; Lee, E Y.H.P.; Peccei, A; Lee, W H ^[1]

---

1. Dept. of Pathology M-012 and Center for Molecular Genetics, Univ. of California, San Diego, La Jolla, CA (US)

Mutational inactivation of the retinoblastoma (RB) gene is considered a fundamental event in the formation of several types of human cancer. A substantial proportion of RB gene mutations are partial or complete deletions that extend an unknown distance beyond one or both ends of the gene. To provide a framework for measuring the extent of these deletions, the authors have constructed a long-range restriction map of SfiI sites spanning 850 kilobases around the RB gene. This map was applied in a molecular analysis of RB gene deletion in breast cancer cell line MB468. A previous study of this cell line demonstrated deletion of the entire RB gene except for exons 1 and 2. Genomic clones containing the deletion junction were isolated from a library made from MB468 DNA. A probe obtained from the far side of the deletion junction was used to localize and clone the unknown 3' endpoint, demonstrating that the chromosomal mutation in this case was a simple deletion spanning 200 kilobases. Sequence analysis of the deletion junction indicated a conservative deletion with no loss or gain of nucleotides. The deletion endpoints had no sequence homology to each other or to any repetitive sequence family, such as Alu, so the recombination event was illegitimate. Structural analysis of this and other RB gene deletions is important for understanding molecular mechanisms of recessive oncogenesis.

• OSTI ID: 5601579
• Journal Information: Molecular and Cellular Biology; (USA), Vol. 9:4; ISSN 0270-7306
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CARCINOGENESIS
MOLECULAR BIOLOGY
CARCINOMAS
GENE REGULATION
MAMMARY GLANDS
RETINA
NEOPLASMS
AMINO ACID SEQUENCE
CELL CULTURES
CHROMOSOME LOSSES
GENE MUTATIONS
GENES
GENETIC MAPPING
NUCLEOTIDES
STRUCTURAL CHEMICAL ANALYSIS
BODY
BODY AREAS
DISEASES
EYES
FACE
GLANDS
HEAD
LOSSES
MAPPING
MOLECULAR STRUCTURE
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PATHOGENESIS
SENSE ORGANS
550200* - Biochemistry
550400 - Genetics