title: Mutation creates an open reading frame within the 5' untranslated region of macaque erythrocyte carbonic anhydrase (CA) I mRNA that suppresses CA I expression and supports the scanning model for translation.
abstract: A variant allele at the CA I locus that produces a deficiency of erythrocyte-specific CA I occurs as a widespread polymorphism in pigtail macaques from southeast Asia. Sequence analyses revealed a C----G substitution 12 nucleotides downstream of the cap site in the variant erythrocyte CA I mRNA. This mutation forms a new AUG start site and an open reading frame coding for 26 amino acids that terminates 6 nucleotides before the normal AUG initiation codon for CA I. It appears that the presence of this upstream open reading frame greatly diminishes reinitiation of translation from the normal start site, resulting in trace levels of CA I in erythrocytes. Preferential use of the first AUG codon supports the scanning model for translation initiation in eukaryotes.
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109-0618.
authors.forename: N C
authors.initials: NC
authors.lastname: Bergenhem
authors.forename: P J
authors.initials: PJ
authors.lastname: Venta
authors.forename: P J
authors.initials: PJ
authors.lastname: Hopkins
authors.forename: H J
authors.initials: HJ
authors.lastname: Kim
authors.forename: R E
authors.initials: RE
authors.lastname: Tashian
mesh_terms: D000818:Animals; D001483:Base Sequence; D002256:Carbonic Anhydrases / Q000235:genetics*; D005786:Gene Expression Regulation; D008254:Macaca nemestrina; D008969:Molecular Sequence Data; D009154:Mutation; D009838:Oligodeoxyribonucleotides / Q000737:chemistry; D016366:Open Reading Frames; D011401:Promoter Regions, Genetic; D014176:Protein Biosynthesis; D012315:RNA Caps; D012333:RNA, Messenger / Q000235:genetics; D013154:Spleen / Q000502:physiology
chemical_list: D009838:Oligodeoxyribonucleotides; D012315:RNA Caps; D012333:RNA, Messenger; D002256:Carbonic Anhydrases