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PMID: 2701949 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Structure and partial genomic sequence of the human retinoblastoma susceptibility gene.

Gene ·Vol. 80 ·No. 1 ·1989-08-01 ·Pages 119-28

McGee TL, Yandell DW, Dryja TP

Abstract

This report describes the genomic organization of the human retinoblastoma susceptibility locus. This gene spans approximately 200 kb of DNA within human chromosome 13, band q14. The previously determined cDNA sequence comprises 27 exons, ranging in size from 31 bp to 1873 bp, and 26 introns, ranging in size from 80 bp to 70,500 bp. We have mapped the positions of the exons and the positions of the recognition sites for six restriction endonucleases. We also present the sequence of 9.2% of the locus (18,335 bp), including approximately 200 bp of intron sequence immediately flanking each exon. This map of a wild-type allele will form the foundation for future studies of mutant, oncogenic alleles at this locus.

MeSH Terms
Amino Acid Sequence Base Sequence Chromosomes, Human, Pair 13 DNA/genetics Exons Eye Neoplasms/genetics Genetic Predisposition to Disease Humans Introns Molecular Sequence Data Plasmids Restriction Mapping Retinoblastoma/genetics
Chemicals
DNA
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
McGee T L
Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114.
Yandell D W
Dryja T P
Article Info
Journal
Gene
Abbr.
Gene
ISSN
0378-1119
DOI
10.1016/0378-1119(89)90256-4
Published
1989-08-01
Pages
119-28
Language
English
Region
Netherlands
NLM ID
7706761
Subset
IM
Grants
NEI NIH HHS · EY05321 · United States
NEI NIH HHS · EY057573 · United States
Databases
GENBANK
M27845, M27846, M27847, M27848, M27849, M27850, M27851, M27852, M27853, M27854, M27855, M27856, M27857, M27858, M27859, M27860, M27862, M27863, M27864, M27865, M27866
External Links
PubMed source DOI: 10.1016/0378-1119(89)90256-4 View journal details
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