Mutation rate and predicted phenotypic target sizes in ethylnitrosourea-treated mice

Mutation rate and predicted phenotypic target sizes in ethylnitrosourea-treated mice
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DOI:
10.1534/genetics.104.029843
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发表时间:
2004-10-01
期刊:
影响因子:
3.3
通讯作者:
Hamilton, BA
Hamilton, BA
中科院分区:
生物学2区
文献类型:
--
作者:
Concepcion, D;Seburn, KL;Hamilton, BA

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世界各地的多个中心正在进行小鼠的化学诱变,对突变率和表型突变位点数量的估计各不相同。为了解决这些问题,我们在大型广谱筛选中对乙基亚硝基脲处理小鼠的 G(1) 后代的 9.6 Mb DNA 进行了类似的测序。我们在 8 个独特位点鉴定了 10 个突变,其中包括 6 个非同义编码替换。这校准了两个诱变中心的核苷酸突变率,暗示了定位克隆工作的显着性标准,并为选定的表型提供了有效遗传目标大小的工作估计。
Chemical mutagenesis of the mouse is ongoing in several centers around the world, with varying estimates of mutation rate and number of sites Mutable to phenotype. To address these questions, we sequenced similar to9.6 Mb of DNA from G(1) progeny of ethylnitrosourea-treated mice in a large, broad-spectrum screen. We identified 10 mutations at eight unique sites, including six nonsynonymous coding substitutions. This calibrates the nucleotide mutation rate for two mutagenesis centers, implies significance criteria for positional cloning efforts, and provides working estimates of effective genetic target sizes for selected phenotypes.