Ts65Dn - localization of the translocation breakpoint and trisomic gene content in a mouse model for Down syndrome
Ts65Dn - localization of the translocation breakpoint and trisomic gene content in a mouse model for Down syndrome
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DOI：
10.1159/000056997
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发表时间：
2001-01-01
期刊：
影响因子：
--
通讯作者：
Davisson, MT
中科院分区：
文献类型：
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作者：
Akeson, EC;Lambert, JP;Davisson, MT
荧光原位杂交（FISH）-使用小鼠染色体涂料。小鼠主要着丝粒卫星DNA探针和染色体（Chr）16和17上的基因探针用于定位用于产生唐氏综合征小鼠模型的易位中的断点。Ts 65 Dn三体性是由T（16：17）65 Dn相互易位引起的。Ts 65 Dn小鼠携带的标记染色体含有Chr 16的远端片段，该区域显示与人Chr 21的连锁保守性，以及Chr 17的近端。该染色体赋予Chr 16片段中的大多数基因三体性，并且Ts 65 Dn小鼠显示唐氏综合征的许多表型特征。我们在来自易位T65 Dn/+杂合子和Ts 65 Dn小鼠的中期染色体上使用FISH，以显示Chr 17断裂点位于Chr 17的异染色质的远端，Ts 65 Dn标记染色体包含Chr 17常染色质的一小部分，Chr 16断裂点位于Ncam 2和Gabpa/App基因之间，Ts 65 Dn染色体含有> 80%的人Chr 21同源物。这一发现的意义进行了讨论，在这个小鼠模型的效用。版权所有（C）2001 S. Karger AG，巴塞尔。
Fluorescent in situ hybridization (FISH) - using mouse chromosome paints. probes for the mouse major centromeric satellite DNA, and probes for genes on chromosomes (Chr) 16 and 17 - was employed to locate the breakpoint in a translocation used to produce a mouse model for Down syndrome. The Ts65Dn trisomy is derived from the reciprocal translocation T(16:17)65Dn. The Ts65Dn mouse carries a marker chromosome containing the distal segment of Chr 16, a region that shows linkage conservation with human Chr 21, and the proximal end of Chr 17. This chromosome confers trisomy for most of the genes in the Chr 16 segment and Ts65Dn mice show many of the phenotypic features characteristic of Down syndrome. We used FISH on metaphase chromosomes from translocation T65Dn/+ heterozygotes and Ts65Dn mice to show that the Chr 17 breakpoint is distal to the heterochromatin of Chr 17, that the Ts65Dn marker chromosome contains a small portion of Chr 17 euchromatin, that the Chr 16 breakpoint lies between the Ncam2 and Gabpa/App genes, and that the Ts65Dn chromosome contains > 80% of the human Chr 21 homologs. The significance of this finding is discussed in terms of the utility of this mouse model. Copyright (C) 2001 S. Karger AG, Basel.