Facial shape and allometry quantitative trait loci in the Diversity Outbred mouse

This study maps quantitative trait loci (QTL) for skeletal facial shape using a large sample of Diversity Outbred (DO) mice. We identified 37 facial shape QTL across 20 shape principal components (PCs) using a mixed effects regression that accounts for kinship among observations. The QTL include some previously identified intervals as well as new regions that expand the list of potential targets for future experimental study. Three QTL characterized shape associations with size (allometry). Median support interval size was 3.5 Mb.

本研究依托大规模多样性远交（Diversity Outbred, DO）小鼠样本，针对面部骨骼形态的数量性状位点（quantitative trait loci, QTL）开展定位分析。本研究通过引入考虑观测个体间亲缘关系的混合效应回归模型，在20个形态主成分（principal components, PCs）中鉴定出37个面部形态QTL。这些QTL既包含既往研究报道的基因组区间，也涵盖了全新的区域，进一步扩充了未来实验研究的潜在靶点清单。其中3个QTL呈现出与体型相关的形态关联（异速生长，allometry）。支持区间的中位数长度为3.5 Mb。