title: Complete genomic sequence of the human retinoblastoma susceptibility gene.
abstract: A 180,388-bp contig encompassing the human retinoblastoma gene was sequenced in its entirety. Partial analysis of the sequence revealed (1) a high (A+T)/(G+C) ratio and a high density of Line-1 (L1) repeat sequences, suggesting that the locus maps to G-bands 13q14.12 or 13q14.2; (2) Alu repeats that are asymmetrically oriented over a region extending 87 kb; (3) an overabundance of non-Alu-associated poly(A) tracts 10 bp or larger oriented in the antisense rather than the sense direction (36 vs 6); (4) an Alu sequence nested within an L1 repeat, indicating that the expansion of L1 repeats predates at least some of the Alu expansions; (5) at least three newly discovered microsatellite polymorphisms, one of which was subsequently found to be identical to a polymorphism in a microsatellite-based linkage map of the human genome published by another group; and (6) the basis of previously discovered intragenic RFLPs. This sequence should enhance studies of this locus and of the organization of the human genome.
authors.affiliation: Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts.
authors.forename: J
authors.initials: J
authors.lastname: Toguchida
authors.forename: T L
authors.initials: TL
authors.lastname: McGee
authors.forename: J C
authors.initials: JC
authors.lastname: Paterson
authors.forename: J R
authors.initials: JR
authors.lastname: Eagle
authors.forename: S
authors.initials: S
authors.lastname: Tucker
authors.forename: D W
authors.initials: DW
authors.lastname: Yandell
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics*; D004276:DNA, Satellite / Q000235:genetics; D016161:Genes, Retinoblastoma; D006801:Humans; D008969:Molecular Sequence Data; D011061:Poly A / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid
chemical_list: D004276:DNA, Satellite; D011061:Poly A; D004247:DNA