title: Difficulty in obtaining the complete mRNA coding sequence at 5' region (5' end mRNA artifact): Causes, consequences in biology and medicine and possible solutions for obtaining the actual amino acid sequence of proteins (Review).
abstract: The known difficulty in obtaining the actual full length, complete sequence of a messenger RNA (mRNA) may lead to the erroneous determination of its coding sequence at the 5' region (5' end mRNA artifact), and consequently to the wrong assignment of the translation start codon, leading to the inaccurate prediction of the encoded polypeptide at its amino terminus. Among the known human genes whose study was affected by this artifact, we can include disco interacting protein 2 homolog A (DIP2A; KIAA0184), Down syndrome critical region 1 (DSCR1), SON DNA binding protein (SON), trefoil factor 3 (TFF3) and URB1 ribosome biogenesis 1 homolog (URB1; KIAA0539) on chromosome 21, as well as receptor for activated C kinase 1 (RACK1, also known as GNB2L1), glutaminyl‑tRNA synthetase (QARS) and tyrosyl-DNA phosphodiesterase 2 (TDP2) along with another 474 loci, including interleukin 16 (IL16). In this review, we discuss the causes of this issue, its quantitative incidence in biomedical research, the consequences in biology and medicine, and the possible solutions for obtaining the actual amino acid sequence of proteins in the post-genomics era.
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40126 Bologna, Italy.
authors.forename: Lorenza
authors.initials: L
authors.lastname: Vitale
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40126 Bologna, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Caracausi
authors.affiliation: Department for Life Quality Studies, University of Bologna, I‑47921 Rimini, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Casadei
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40126 Bologna, Italy.
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Pelleri
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40126 Bologna, Italy.
authors.forename: Allison
authors.initials: A
authors.lastname: Piovesan
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D016477:Artifacts; D001483:Base Sequence; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D006801:Humans; D016366:Open Reading Frames; D012333:RNA, Messenger / Q000737:chemistry / Q000235:genetics*; D048348:Reverse Transcription; D017422:Sequence Analysis, DNA / Q000379:methods / Q000592:standards
chemical_list: D018076:DNA, Complementary; D012333:RNA, Messenger