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Segmental trisomy of mouse chromosome 17: introducing an alternative model of Down's syndrome

机译:小鼠17号染色​​体的三体性:引入唐氏综合症的另一种模型

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摘要

All of the mouse models of human trisomy 21 syndrome that have been studied so far are based on segmental trisomies, encompassing, to a varying extent, distal chromosome 16. Their comparison with one or more unrelated and non-overlapping segmental trisomies may help to distinguish the effects of specific triplicated genes from the phenotypes caused by less specific developmental instability mechanisms. In this paper, the Ts43H segmental trisomy of mouse chromosome 17 is presented as such 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 20 genes.
机译:迄今为止,已研究的所有人类21三体综合征的小鼠模型均基于节段三体性,并在不同程度上涵盖了16号远端染色体。将它们与一个或多个不相关且不重叠的节段三体性进行比较可能有助于区分表型的特定一式三份基因的影响是由不太具体的发育不稳定机制引起的。在本文中,小鼠染色体17的Ts43H节段三体作为这种替代模型被提出。该三体性延伸了近端17号染色​​体的32.5 Mb并包含486个基因。一式三份的间隔带有与五个人类染色体的七个连贯块。与人类21号染色体同义的区块包含20个基因。

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