Segmental paralogy in the human genome: a large-scale triplication on 1p, 6p, and 21q

被引:15
作者
Strippoli, P [1 ]
D'Addabbo, P [1 ]
Lenzi, L [1 ]
Giannone, S [1 ]
Canaider, S [1 ]
Casadei, R [1 ]
Vitale, L [1 ]
Carinci, P [1 ]
Zannotti, N [1 ]
机构
[1] Univ Bologna, Inst Histol & Gen Embryol, Res Ctr Mol Genet Fdn CARISBO, I-40126 Bologna, Italy
关键词
D O I
10.1007/s00335-001-2157-0
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Few cases of large-scale segmental paralogy have been reported in the human genome. We have identified large (similar to500 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 oil 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 acne divergence study and underlines the need for new tools to effectively detect inter-chromosomal similarity. An algorithm to overcome current limitations is proposed.
引用
收藏
页码:456 / 462
页数:7
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