segmental trisomy of mouse chromosome 17 introducing an alternative model of down’s syndrome17号染色体节段三染色体细胞的老鼠引入另一种唐氏综合征模型.pdf

Comparative and Functional Genomics Comp Funct Genom 2003; 4: 647–652. Published online in Wiley InterScience (). DOI: 10.1002/cfg.334 Conference Review Segmental trisomy of mouse chromosome 17: introducing an alternative model of Down’s syndrome ´ˇ ´ ˇ ´ Jiri Forejt*, Tomas Vac ık and Sona Gregorova Institute of Molecular Genetics, Academy of Sciences of the Czech Republic and Center of Integrated Genomics, Prague, Czech Republic *Correspondence to: Abstract Jiri Forejt, Institute of Molecular Genetics, Academy of Sciences of All of the mouse models of human trisomy 21 syndrome that have been studied the Czech Republic and Center so far are based on segmental trisomies, encompassing, to a varying extent, distal of Integrated Genomics, Prague, chromosome 16. Their comparison with one or more unrelated and non-overlapping Czech Republic, Videnska 1083, segmental trisomies may help to distinguish the effects of specific triplicated genes 124 20 Prague 4, Czech from the phenotypes caused by less specific developmental instability mechanisms. In Republic. this paper, the Ts43H segmental trisomy of mouse chromosome 17 is presented as such E-mail: jforejt@biomed.cas.cz an alternative model. The trisomy stretches over 32.5 Mb of proximal chromosome 17 and includes 486 genes. The triplicated interval carries seven blocks of synteny with five human chromosomes. The block syntenic to human chromosome 21 contains Received: 19 August 2003 20 genes. Copyright  2003 John Wiley Sons, Ltd. Revised: 9 September 2003 Keywords: segmental aneuploidy; Down’s syndrome; Ts43H; trisomy; gene dosage