Pleiotropic patterns of quantitative trait loci for 70 murine skeletal traits
Pleiotropic patterns of quantitative trait loci for 70 murine skeletal traits
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DOI：
10.1534/genetics.107.084434
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发表时间：
2008-04-01
期刊：
影响因子：
3.3
通讯作者：
Cheverud, James M.
中科院分区：
文献类型：
--
作者：
Kenney-Hunt, Jane P.;Wang, Bing;Cheverud, James M.
骨骼性状或一些相关骨骼成分的数量性状基因座（QTL）研究正变得越来越普遍，但迄今为止还没有调查整个骨骼的多效性模式。我们提出了一个全面的调查多效性模式影响小鼠骨骼形态在互交的LG/J和SM/J近交系（N= 1040），使用70个骨骼性状的QTL分析。我们确定了798个单性状QTL，合并到105个位点，平均每个影响7-8个性状。每个基因座受影响的性状数从1个性状到30个性状不等。单个性状平均每个11个QTL，范围从4到20。skeleton性状受许多小效应基因座的影响。显著加性基因型值平均为0.23标准差（SD）单位。50%的位点与具有中间表型值的杂合子表现出共显性。当显性确实发生时，LG/J等位基因倾向于对SM/J等位基因显性（30%对8%）。过度和不足的情况相对罕见（12%）。大约五分之一的QTL是性别特异性的，包括许多骨盆性状。评价骨骼性状的多效性关系对于理解遗传变异在骨骼生长发育中的作用是很重要的。
Quantitative trait locus (QTL) studies of a skeletal trait or a few related skeletal components are becoming commonplace, but as yet there has been no investigation of pleiotropic patterns throughout the skeleton. We present a comprehensive survey of pleiotropic patterns affecting mouse skeletal morphology in an intercross of LG/J and SM/J inbred strains (N= 1040), using QTL analysis on 70 skeletal traits. We identify 798 single-trait QTL, coalescing to 105 loci that affect on average 7-8 traits each. The number of traits affected per locus ranges from only I trait to 30 traits. Individual traits average 11 QTL each, ranging from 4 to 20. Skeletal traits are affected by many, small-effect loci. Significant additive genotypic values average 0.23 standard deviation (SD) units. Fifty percent of loci show codominance with heterozygotes having intermediate phenotypic values. When dominance does occur, the LG/J allele tends to be dominant to the SM/J allele (30% vs. 8%). Over- and underdominance are relatively rare (12%). Approximately one-fifth of QTL are sex specific, including many for pelvic traits. Evaluating the pleiotropic relationships of skeletal traits is important in understanding the role of genetic variation in the growth and development of the skeleton.