Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.
Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis.
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DOI：
10.1002/humu.20757
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发表时间：
2008-10
期刊：
影响因子：
3.9
通讯作者：
Jobling, Mark A.
中科院分区：
文献类型：
--
作者：
Balaresque, Patricia;Bowden, Georgina R.;Parkin, Emma J.;Omran, Ghada A.;Heyer, Evelyne;Quintana-Murci, Lluis;Roewer, Lutz;Stoneking, Mark;Nasidze, Ivan;Carvalho-Silva, Denise R.;Tyler-Smith, Chris;de Knijff, Peter;Jobling, Mark A.
人类Y染色体显示出频繁的结构变异，其中一些是选择性中性的，而另一些则由于生精基因的丢失而导致生育能力受损。在法医学和群体遗传学研究中大规模使用多个Y染色体微卫星可以通过单倍型中特定标记的缺失或重复来揭示这些变异。我们描述了Y染色体在明显正常的男性携带无效和重复的等位基因在微卫星DYS 448，这是在近端部分的无精子因子C（AZFc）区域，重要的精子发生，并组成的“扩增”重复，作为基板的非等位基因同源重组（NAHR）。在26个DYS 448缺失染色体的物理作图显示，只有三个案件属于以前描述的类，代表独立发生的~1.5 Mb的缺失介导的重组之间的b1和b3重复单位。其余的属于五个新的类别;没有一个似乎是通过同源重组介导的，所有删除一些基因，但可能与正常的生育能力兼容。二进制标记和微卫星单倍型分析的组合缺失分析表明，26个缺失代表9个独立的事件。9条DYS 448重复染色体可以用4个独立事件来解释。某些谱系在特定人群中出现的频率很高，特别是在18名亚洲男性中发现的单倍群（hg）C*（xC 3a，C3 c）内的缺失。重复和缺失事件的非随机系统发育分布表明，可能的结构易感性，这样的突变在hgs C和G。《Mutat》29（10），1171-1180，2008年。
The human Y chromosome shows frequent structural variants, some of which are selectively neutral, while others cause impaired fertility due to the loss of spermatogenic genes. The large-scale use of multiple Y-chromosomal microsatellites in forensic and population genetic studies can reveal such variants, through the absence or duplication of specific markers in haplotypes. We describe Y chromosomes in apparently normal males carrying null and duplicated alleles at the microsatellite DYS448, which lies in the proximal part of the azoospermia factor c (AZFc) region, important in spermatogenesis, and made up of “ampliconic” repeats that act as substrates for nonallelic homologous recombination (NAHR). Physical mapping in 26 DYS448 deletion chromosomes reveals that only three cases belong to a previously described class, representing independent occurrences of an~1.5-Mb deletion mediated by recombination between the b1 and b3 repeat units. The remainder belong to five novel classes; none appears to be mediated through homologous recombination, and all remove some genes, but are likely to be compatible with normal fertility. A combination of deletion analysis with binary-marker and microsatellite haplotyping shows that the 26 deletions represent nine independent events. Nine DYS448 duplication chromosomes can be explained by four independent events. Some lineages have risen to high frequency in particular populations, in particular a deletion within haplogroup (hg) C*(xC3a,C3c) found in 18 Asian males. The nonrandom phylogenetic distribution of duplication and deletion events suggests possible structural predisposition to such mutations in hgs C and G. Hum Mutat 29(10), 1171–1180, 2008.
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