Short, direct repeats at the breakpoints of deletions of the 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.86.13.5044· OSTI ID:5352473

Canning, S; Dryja, T P ^[1]

---

1. Harvard Medical School, Boston, MA (USA)

The authors found deletions involving the retinoblastoma gene in 12 of 49 tumors from patients with retinoblastoma or osteosarcoma. After mapping the deletion breakpoints, they found that no two breakpoints coincided. Thus, the data do not support the conclusions of others regarding the existence of a hotspot for deletion breakpoints in this gene. In 4 of the tumors, they sequenced 200 base pairs surrounding each deletion breakpoint. Three deletions had termini within pairs of short, direct repeats ranging in size from 4 to 7 base pairs. These results indicate that the slipped mispairing mechanism may predominate in the generation of deletions at this locus. The review of deletion breakpoints at other genetic loci reveals that the nature of the sequences present at deletion breakpoints (short, direct repeats versus middle repetitive elements) varies according to the genetic locus under study.

• OSTI ID: 5352473
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 86:13; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
ONCOGENES
DNA SEQUENCING
DNA-CLONING
HETEROCHROMOSOMES
NEOPLASMS
OSTEOSARCOMAS
PATIENTS
PHOSPHORUS 32
RECESSIVE MUTATIONS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHROMOSOMES
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA HYBRIDIZATION
GENES
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MAPPING
MUTATIONS
NUCLEI
ODD-ODD NUCLEI
PHOSPHORUS ISOTOPES
RADIOISOTOPES
SARCOMAS
SKELETAL DISEASES
STRUCTURAL CHEMICAL ANALYSIS
550401* - Genetics- Tracer Techniques