Physical and genetic mapping of the human X chromosome centromere: Repression of recombination
Physical and genetic mapping of the human X chromosome centromere: Repression of recombination
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DOI：
10.1101/gr.8.2.100
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发表时间：
1998-02-01
期刊：
影响因子：
7
通讯作者：
Willard, HF
中科院分区：
文献类型：
--
作者：
Mahtani, MM;Willard, HF
果蝇和酵母的经典遗传学研究表明，染色体着丝粒具有抑制相邻 DNA 减数分裂交换的顺式作用能力。为了确定人类着丝粒上是否存在类似的现象，我们测量了人类 X 染色体着丝粒上罕见的减数分裂重组。我们通过脉冲场凝胶分析构建了着丝粒 α 卫星 DNA (DXZ1) 的远程物理图谱，以及 CEPH 家族面板中 X 染色体着丝粒周围区域的详细减数分裂图谱。通过比较这两个图谱，我们确定，在 X 染色体的近端区域，跨越着丝粒的标记之间存在 0.57 cM 的遗传距离，并且间隔至少 DXZ1 阵列上映射的平均 3600 kb 物理距离。因此，跨 X 染色体着丝粒的减数分裂交换率为
Classical genetic studies in Drosophila and yeast have shown that chromosome centromeres have a cis-acting ability to repress meiotic exchange in adjacent DNA. To determine whether a similar phenomenon exists at human centromeres, we measured the rare of meiotic recombination across the centromere of the human X chromosome. We have constructed a long-range physical map of centromeric alpha-satellite DNA (DXZ1) by pulsed-field gel analysis, as well as detailed meiotic maps of the pericentromeric region of the X chromosome in the CEPH Family panel. By comparing these two maps, we determined that, in the proximal region of the X chromosome, a genetic distance of 0.57 cM exists between markers that span the centromere and are separated by at least the average 3600 kb physical distance mapped across the DXZ1 array. Therefore, the rate of meiotic exchange across the X chromosome centromere is