在小鼠伪自体区域的细分重复中高度多态的副本数变化,即使在同系实验室菌株内也是如此
Takaoki Kasahara1,2,3
1Career Development Program, RIKEN Center for Brain Science.
概括
实验室小鼠的遗传统一性受到伪自体区域 (PAR) 副本数变异 (CNV) 的挑战. 这一发现影响了生物研究对C57BL/6J.J.等同血统小鼠菌株的假设.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 哺乳动物遗传学 哺乳动物遗传学
背景情况:
- 杂交的实验室小鼠,特别是C57BL/6J菌株,是生物医学研究的基础模型,被认为具有很高的遗传统一性.
- 伪自体区域 (PAR) 对于性别染色体的配对和变过程中的重组至关重要,在X和Y染色体上具有相同的序列.
研究的目的:
- 为了研究在近亲生小鼠菌株中基因统一性的假设.
- 在小鼠伪自体区域 (PAR) 中,在细分重复 (SD) 内的副本数变异 (CNV) 的特征.
主要方法:
- 在C57BL/6J小鼠的伪自体区域 (PAR) 中对副本数量变化 (CNV) 的定量分析.
- 在精子生成中变化过程中检测新发性CNV.
- 在其他经典的内生小鼠菌株中分析CNV.
- 对Erdr1的基因表达分析和与CNV和体重的相关性.
主要成果:
- 在C57BL/6J小鼠的小鼠伪自体区域 (PAR) 内的细分重复 (SD) 中发现了大量的副本数变化 (CNV),副本数从4到27不等.
- 在精子生成过程中,几乎在每个介质事件中都观察到De novo CNV.
- 在SD中,CNV也存在于其他同系老鼠菌株中.
- 发现Erdr1基因拷贝数与男性的表达水平之间存在正相关性,Erdr1表达与体重之间存在负相关性.
结论:
- 杂交实验室小鼠的遗传统一性受到挑战,因为伪自体区域的副本数量存在显著的变化.
- 伪自体区域的拷贝数变化及其对Erdr1基因表达的影响可能会对研究结果和雄性小鼠的体重产生影响.
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