title: Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q.
abstract: Few cases of large-scale segmental paralogy have been reported in the human genome. We have identified a large (approximately 500 kb) segment on human chromosome (HC) 21 (21q22) that is triplicated on HC 1 (1p35) and HC 6 (6p12-21). We also identified a new member of CLIC (Chloride Intracellular Channel) family on 21q, namely CLIC6. All three segments appear to include three functional members of three different gene families: DSCR1-like (Down Syndrome Candidate Region 1-like), CLIC, and AML/Runt (Acute Myeloid Leukemia/Runt). Molecular evolution analysis shows a common evolutionary origin for the triplicated regions. This finding of a further large-scale genomic triplication that went undetected at previously systematic automated searches provides a new model for gene divergence study and underlines the need for new tools to effectively detect inter-chromosomal similarity. An algorithm to overcome current limitations is proposed.
authors.affiliation: Research Center for Molecular Genetics Fondazione CARISBO at the Institute of Histology and General Embryology, University of Bologna, 40126, Bologna, Italy.
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Strippoli
authors.forename: Pietro
authors.initials: P
authors.lastname: D'Addabbo
authors.forename: Luca
authors.initials: L
authors.lastname: Lenzi
authors.forename: Sandra
authors.initials: S
authors.lastname: Giannone
authors.forename: Silvia
authors.initials: S
authors.lastname: Canaider
authors.forename: Raffaella
authors.initials: R
authors.lastname: Casadei
authors.forename: Lorenza
authors.initials: L
authors.lastname: Vitale
authors.forename: Paolo
authors.initials: P
authors.lastname: Carinci
authors.forename: Maria
authors.initials: M
authors.lastname: Zannotti
mesh_terms: D000595:Amino Acid Sequence; D018118:Chloride Channels / Q000235:genetics; D002878:Chromosomes, Human, Pair 1; D002891:Chromosomes, Human, Pair 21; D002896:Chromosomes, Human, Pair 6; D019143:Evolution, Molecular; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D010750:Phosphoproteins / Q000235:genetics; D010802:Phylogeny
chemical_list: C480840:CLIC6 protein, human; D018118:Chloride Channels; D010750:Phosphoproteins; C407265:parchorin protein, Oryctolagus cuniculus