Max-Planck Institut für Evolutionsbiologie, August-Thienemannstrasse 2, 24306 Plön, Germany.
BMC Evol Biol. 2011 Oct 19;11:309. doi: 10.1186/1471-2148-11-309.
Expectations of repeatedly finding associations between given genes and phenotypes have been borne out by studies of parallel evolution, especially for traits involving absence or presence of characters. However, it has rarely been asked whether the genetic basis of quantitative trait variation is conserved at the intra- or even at the interspecific level. This question is especially relevant for shape, where the high dimensionality of variation seems to require a highly complex genetic architecture involving many genes.
We analyse here the genetic effects of chromosome substitution strains carrying M. m. musculus chromosomes in a largely M. m. domesticus background on mandible shape and compare them to the results of previously published QTL mapping data between M. m. domesticus strains. We find that the distribution of genetic effects and effect sizes across the genome is consistent between the studies, while the specific shape changes associated with the chromosomes are different. We find also that the sum of the effects from the different M. m. musculus chromosomes is very different from the shape of the strain from which they were derived, as well as all known wild type shapes.
Our results suggest that the relative chromosome-wide effect sizes are comparable between the long separated subspecies M. m. domesticus and M. m. musculus, hinting at a relative stability of genes involved in this complex trait. However, the absolute effect sizes and the effect directions may be allele-dependent, or are context dependent, i.e. epistatic interactions appear to play an important role in controlling shape.
平行进化的研究证实了人们对给定基因与表型之间存在关联的期望,尤其是对于涉及特征缺失或存在的性状。然而,人们很少问津数量性状变异的遗传基础是否在种内甚至种间水平上具有保守性。对于形状来说,这个问题尤其重要,因为变异的高维性似乎需要涉及许多基因的高度复杂的遗传结构。
我们在这里分析了在很大程度上以 M. m. domesticus 背景携带 M. m. musculus 染色体的染色体替代品系对下颌骨形状的遗传效应,并将其与之前在 M. m. domesticus 品系之间发表的 QTL 图谱数据的结果进行了比较。我们发现,研究之间的遗传效应和效应大小在基因组中的分布是一致的,而与染色体相关的具体形状变化则不同。我们还发现,不同 M. m. musculus 染色体的效应总和与它们所衍生的品系的形状以及所有已知的野生型形状非常不同。
我们的结果表明,相对的染色体-wide 效应大小在长期分离的亚种 M. m. domesticus 和 M. m. musculus 之间具有可比性,暗示了参与这种复杂性状的基因具有相对稳定性。然而,绝对的效应大小和效应方向可能依赖于等位基因,或者是依赖于环境的,即上位性相互作用在控制形状方面似乎起着重要作用。