Carrier David R, Chase Kevin, Lark Karl G
University of Utah, Department of Biology, Salt Lake City, Utah 84112-0840, USA.
Genome Res. 2005 Dec;15(12):1825-30. doi: 10.1101/gr.3800005.
The mammalian skeleton presents an ideal system in which to study the genetic architecture of a set of related polygenic traits and the skeleton of the domestic dog (Canis familiaris) is arguably the best system in which to address the relationship between genes and anatomy. We have analyzed the genetic basis for skeletal variation in a population of >450 Portuguese Water Dogs. At this stage of this ongoing project, we have identified >40 putative quantitative trait loci (QTLs) for heritable skeletal phenotypes located on 22 different chromosomes, including the "X." A striking aspect of these is the regulation of suites of traits representing bones located in different parts of the skeleton but related by function. Here we illustrate this by describing genetic variation in postcranial morphology. Two suites of traits are involved. One regulates the size of the pelvis relative to dimensions of the limb bones. The other regulates the shape of the pelvis. Both are examples of trade-offs that may be prototypical of different breeds. For the size of the pelvis relative to limb bones, we describe four QTLs located on autosome CFA 12, 30, 31, and X. For pelvic shape we describe QTLs on autosome CFA 2, 3, 22, and 36. The relation of these polygenic systems to musculoskeletal function is discussed.
哺乳动物的骨骼是研究一组相关多基因性状遗传结构的理想系统，而家犬（Canis familiaris）的骨骼可以说是研究基因与解剖结构之间关系的最佳系统。我们分析了450多只葡萄牙水犬群体中骨骼变异的遗传基础。在这个正在进行的项目的现阶段，我们已经在包括“X”染色体在内的22条不同染色体上，确定了40多个与可遗传骨骼表型相关的假定数量性状基因座（QTL）。这些基因座的一个显著特点是，它们调控着代表位于骨骼不同部位但功能相关的骨骼的一系列性状。在此，我们通过描述颅后形态的遗传变异来说明这一点。这涉及到两套性状。一套调控骨盆大小与四肢骨骼尺寸的关系。另一套调控骨盆的形状。这两者都是不同品种可能具有的典型权衡的例子。对于骨盆大小与四肢骨骼的关系，我们描述了位于常染色体CFA 12、30、31和X染色体上的4个QTL。对于骨盆形状，我们描述了位于常染色体CFA 2、3、22和36上的QTL。我们还讨论了这些多基因系统与肌肉骨骼功能的关系。
