Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q.
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.
Strippoli
Pierluigi
P
Research Center for Molecular Genetics Fondazione CARISBO at the Institute of Histology and General Embryology, University of Bologna, 40126, Bologna, Italy.
D'Addabbo
Pietro
P
Lenzi
Luca
L
Giannone
Sandra
S
Canaider
Silvia
S
Casadei
Raffaella
R
Vitale
Lorenza
L
Carinci
Paolo
P
Zannotti
Maria
M
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
C480840:CLIC6 protein, human; D018118:Chloride Channels; D010750:Phosphoproteins; C407265:parchorin protein, Oryctolagus cuniculus