title: Unusual splice sites revealed by mutagenic inactivation of an authentic splice site of the rabbit beta-globin gene.
abstract: Only one of six point mutations of the sequence around one end of the larger of the introns of the rabbit beta-globin gene seriously affects the normal removal of the intron and splicing of the gene. That mutation converts a GT sequence, invariably found at the 5' end of introns, into an AT, which is no longer recognized as a signal for intron removal. Instead, three normally unused (cryptic) sites are used, leading to aberrant gene transcripts. One of the cryptic sites is an exception to the invariable GT sequence.
mesh_terms: D000818:Animals; D001426:Bacterial Proteins; D001483:Base Sequence; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes / Q000378:metabolism; D015245:Deoxyribonuclease BamHI; D015252:Deoxyribonucleases, Type II Site-Specific; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics*; D006367:HeLa Cells / Q000032:analysis; D006801:Humans; D051379:Mice; D009154:Mutation; D011817:Rabbits; D014158:Transcription, Genetic
chemical_list: D001426:Bacterial Proteins; D005914:Globins; D004262:DNA Restriction Enzymes; D015245:Deoxyribonuclease BamHI; C024404:BglII endonuclease; D015252:Deoxyribonucleases, Type II Site-Specific