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Structural variation of the pseudoautosomal region between and within inbred mouse strains.

机译:近交小鼠品系之间和之内的伪常染色体区域的结构变异。

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摘要

The pseudoautosomal region (PAR) is a segment of shared homology between the sex chromosomes. Here we report additional probes for this region of the mouse genome. Genetic and fluorescence in situ hybridization analyses indicate that one probe, PAR-4, hybridizes to the pseudoautosomal telomere and a minor locus at the telomere of chromosome 9 and that a PCR assay based on the PAR-4 sequence amplifies only the pseudoautosomal locus (DXYHgu1). The region detected by PAR-4 is structurally unstable; it shows polymorphism both between mouse strains and between animals of the same inbred strain, which implies an unusually high mutation rate. Variation occurs in the region adjacent to a (TTAGGG)n array. Two pseudoautosomal probes can also hybridize to the distal telomeres of chromosomes 9 and 13, and all three telomeres contain DXYMov15. The similarity between these telomeres may reflect ancestral telomere-telomere exchange.
机译:伪常染色体区域(PAR)是性染色体之间共有同源性的片段。在这里,我们报告了小鼠基因组这一区域的其他探针。遗传和荧光原位杂交分析表明,一种探针PAR-4与假常染色体端粒和9号染色体端粒处的一个次要基因座杂交,基于PAR-4序列的PCR分析仅扩增了假常染色体基因座(DXYHgu1 )。 PAR-4检测到的区域在结构上不稳定;它显示出小鼠品系之间以及同一近交系动物之间的多态性,这意味着异常高的突变率。在与(TTAGGG)n阵列相邻的区域中发生变化。两个假常染色体探针也可以与9号和13号染色体的远端端粒杂交,并且所有三个端粒均包含DXYMov15。这些端粒之间的相似性可能反映了祖先端粒-端粒交换。

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