Human retinoblastoma susceptibility gene: cloning, identification, and sequence
Recent evidence indicates the existence of a genetic locus in chromosome region 13q14 that confers susceptibility to retinoblastoma, a cancer of the eye in children. A gene encoding a messenger RNA of 4.6 kilobases (kb), located in the proximity of esterase D, was identified as the retinoblastoma susceptibility (RB) gene on the basis of chromosomal location, homozygous deletion, and tumor-specific alterations in expression. Transcription of this gene was abnormal in six of six retinoblastomas examined: in two tumors, RB mRNA was not detectable, while four others expressed variable quantities of RB mRNA with decreased molecular size of about 4.0 kb. In contrast, full-length RB mRNA was present in human fetal retina and placenta, and in other tumors such as neuroblastoma and medulloblastoma. DNA from retinoblastoma cells had a homozygous gene deletion in one case and hemizygous deletion in another case, while the remainder were not grossly different from normal human control DNA. The gene contains at least 12 exons distributed in a region of over 100 kb. Sequence analysis of complementary DNA clones yielded a single long open reading frame that could encode a hypothetical protein of 816 amino acids.
- Research Organization:
- Univ. of California, San Diego, La Jolla (USA)
- OSTI ID:
- 7143851
- Journal Information:
- Science (Washington, D.C.); (United States), Vol. 235
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
EYES
NEOPLASMS
MESSENGER-RNA
GENES
ONCOGENES
DNA SEQUENCING
DNA-CLONING
CHILDREN
GENE REGULATION
MAN
TRANSCRIPTION
TUMOR CELLS
AGE GROUPS
ANIMAL CELLS
ANIMALS
BODY
BODY AREAS
CLONING
DISEASES
FACE
HEAD
MAMMALS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PRIMATES
RNA
SENSE ORGANS
STRUCTURAL CHEMICAL ANALYSIS
VERTEBRATES
550200* - Biochemistry