影响家畜耳型变异遗传位点的研究进展

Advances of Genetic Loci Affecting Phenotypic Variations of Ear Type in Livestock

作为家畜的一个重要性状,耳型是家畜品种鉴定的重要指标,家畜小耳畸形还可作为人耳疾病研究的动物模型。目前,利用全基因组连锁分析、关联研究和基因表达数据,在家畜上鉴定到影响耳朵大小、外耳直立性的候选基因主要包括MSRB3和PPARD;特别是PPARD基因内的一个错义突变(G>A,G32E)被认为是影响家猪耳朵大小的因果突变。由于哺乳动物耳朵发育复杂,在不同家畜物种中控制小耳畸形的基因不尽相同,已鉴定到的候选基因包括GATA6、HMX1、HOXA1等。本文综述了影响家畜耳型变异遗传位点的研究进展,旨在为家畜遗传育种工作以及人类耳朵相关疾病研究提供参考。

As an important trait in livestock,the ear type is a key index for the identification of livestock breeds,and microtia in livestock can be regarded as an animal model for ear diseases in humans.The major candidate genes affecting ear size and erectness in livestock mainly include MSRB3 and PPARD based on genome-wide linkage analyses,association studies and gene expression data.In particular,one missense mutation(G>A,G32E)in the PPARD gene is thought to be one causal mutation for ear size in domestic pigs.Different candidate genes that contain GATA6,HMX1,and HOXA1 are responsible for microtia in different livestock species because of the complexity of mammalian ear development.The research advance in this review will provide references for livestock genetics and breeding,and the studies on human ear diseases.