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人类21号和22号染色体在小鼠10号染色体上进化边界的物理图谱。

Physical mapping of the evolutionary boundary between human chromosomes 21 and 22 on mouse chromosome 10.

作者信息

Cole S E, Wiltshire T, Reeves R H

机构信息

Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

出版信息

Genomics. 1998 May 15;50(1):109-11. doi: 10.1006/geno.1998.5312.

Abstract

Adjacent regions of mouse Chromosome 10 (MMU10) show conserved synteny with human chromosome 22 (HSA22) and the telomeric region of HSA21. Physical mapping on MMU10 using YAC fragmentation and PAC contig analyses demonstrates that Prmt2 has a position consistent with its human homolog, HRMT1L1, being telomeric to S100B on HSA21. This result establishes Prmt2 as the new proximal boundary of the region of conserved synteny between MMU10 and HSA21 and predicts that it is the most telomeric gene known on HSA21. Physical mapping refines the positions and order of HSA22 homologs Mmp11, Mif, and Ddt, demonstrates the orientation of S100b on the mouse chromosome, and localizes the junction of conserved synteny between HSA21 and HSA22 on MMU10. Comparative mapping in this region is important for defining gene structure and dosage imbalance in Down syndrome (DS), for developing animal models of DS, and for understanding processes of chromosome evolution.

摘要

小鼠10号染色体(MMU10)的相邻区域与人类22号染色体(HSA22)以及HSA21的端粒区域显示出保守的同线性。利用酵母人工染色体(YAC)片段化和细菌人工染色体连续克隆系(PAC)重叠群分析对MMU10进行物理图谱绘制,结果表明,蛋白精氨酸甲基转移酶2(Prmt2)的位置与其人类同源物HRMT1L1一致,在HSA21上位于S100B的端粒侧。这一结果确定了Prmt2是MMU10和HSA21之间保守同线性区域的新近端边界,并预测它是HSA21上已知的最端粒基因。物理图谱绘制优化了HSA22同源物基质金属蛋白酶11(Mmp11)、巨噬细胞移动抑制因子(Mif)和双脱氢硫辛酰胺转乙酰基酶(Ddt)的位置和顺序,确定了S100b在小鼠染色体上的方向,并定位了MMU10上HSA21和HSA22之间保守同线性的连接点。该区域的比较图谱绘制对于确定唐氏综合征(DS)的基因结构和剂量失衡、建立DS动物模型以及理解染色体进化过程具有重要意义。

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