title: Characterization of human gene locus CYYR1: a complex multi-transcript system.
abstract: Cysteine/tyrosine-rich 1 (CYYR1) is a gene we previously identified on human chromosome 21 starting from an in-depth bioinformatics analysis of chromosome 21 segment 40/105 (21q21.3), where no coding region had previously been predicted. CYYR1 was initially characterized as a four-exon gene, whose brain-derived cDNA sequencing predicts a 154-amino acid product. In this study we provide, with in silico and in vitro analyses, the first detailed description of the human CYYR1 locus. The analysis of this locus revealed that it is composed of a multi-transcript system, which includes at least seven CYYR1 alternative spliced isoforms and a new CYYR1 antisense gene (named CYYR1-AS1). In particular, we cloned, for the first time, the following isoforms: CYYR1-1,2,3,4b and CYYR1-1,2,3b, which present a different 3' transcribed region, with a consequent different carboxy-terminus of the predicted proteins; CYYR1-1,2,4 lacks exon 3; CYYR1-1,2,2bis,3,4 presents an additional exon between exon 2 and exon 3; CYYR1-1b,2,3,4 presents a different 5' untranslated region when compared to CYYR1. The complexity of the locus is enriched by the presence of an antisense transcript. We have cloned a long transcript overlapping with CYYR1 as an antisense RNA, probably a non-coding RNA. Expression analysis performed in different normal tissues, tumour cell lines as well as in trisomy 21 and euploid fibroblasts has confirmed a quantitative and qualitative variability in the expression pattern of the multi-transcript locus, suggesting a possible role in complex diseases that should be further investigated.
authors: Department for Life Quality Studies, University of Bologna, C.so d'Augusto 237, 47921, Rimini, RN, Italy.
authors: Raffaella
authors: R
authors: Casadei
authors: Maria Chiara
authors: MC
authors: Pelleri
authors: Lorenza
authors: L
authors: Vitale
authors: Federica
authors: F
authors: Facchin
authors: Silvia
authors: S
authors: Canaider
authors: Pierluigi
authors: P
authors: Strippoli
authors: Matteo
authors: M
authors: Vian
authors: Allison
authors: A
authors: Piovesan
authors: Eva
authors: E
authors: Bianconi
authors: Elisa
authors: E
authors: Mariani
authors: Francesco
authors: F
authors: Piva
authors: Flavia
authors: F
authors: Frabetti
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D003198:Computer Simulation; D005091:Exons; D015870:Gene Expression; D005796:Genes; D056426:Genetic Loci; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009928:Organ Specificity; D020033:Protein Isoforms / Q000235:genetics
chemical_list: C464455:CYYR1 protein, human; D008565:Membrane Proteins; D020033:Protein Isoforms