常用近交系实验小鼠单倍型中存在意想不到的复杂性。
Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice.
作者信息
Yalcin B, Fullerton J, Miller S, Keays D A, Brady S, Bhomra A, Jefferson A, Volpi E, Copley R R, Flint J, Mott R
机构信息
Wellcome Trust Centre for Human Genetics, Oxford University, Roosevelt Drive, Oxford OX3 7BN, United Kingdom.
出版信息
Proc Natl Acad Sci U S A. 2004 Jun 29;101(26):9734-9. doi: 10.1073/pnas.0401189101. Epub 2004 Jun 21.
Abstract
Investigation of sequence variation in common inbred mouse strains has revealed a segmented pattern in which regions of high and low variant density are intermixed. Furthermore, it has been suggested that allelic strain distribution patterns also occur in well defined blocks and consequently could be used to map quantitative trait loci (QTL) in comparisons between inbred strains. We report a detailed analysis of polymorphism distribution in multiple inbred mouse strains over a 4.8-megabase region containing a QTL influencing anxiety. Our analysis indicates that it is only partly true that the genomes of inbred strains exist as a patchwork of segments of sequence identity and difference. We show that the definition of haplotype blocks is not robust and that methods for QTL mapping may fail if they assume a simple block-like structure.
摘要
对常见近交系小鼠品系的序列变异进行研究后发现了一种分段模式，其中高变异密度区域和低变异密度区域相互交错。此外，有人提出等位基因品系分布模式也出现在明确界定的区域中，因此可用于在近交系品系之间的比较中定位数量性状基因座（QTL）。我们报告了对多个近交系小鼠品系在一个影响焦虑的QTL所在的4.8兆碱基区域内多态性分布的详细分析。我们的分析表明，近交系品系的基因组仅部分地呈现为序列相同和不同片段的拼凑。我们表明单倍型区域的定义并不稳固，并且如果QTL定位方法假定为简单的块状结构，那么这些方法可能会失败。
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