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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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.[1]

References

  1. Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q. Strippoli, P., D'Addabbo, P., Lenzi, L., Giannone, S., Canaider, S., Casadei, R., Vitale, L., Carinci, P., Zannotti, M. Mamm. Genome (2002) [Pubmed]
 
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