Nataneli Shirin, Huang Shengmiao, Mooney Jazlyn A, Szpiech Zachary A
Department of Biology, Pennsylvania State University, University Park, PA, USA.
Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
bioRxiv. 2024 Nov 30:2024.05.01.592072. doi: 10.1101/2024.05.01.592072.
Runs of homozygosity (ROH) are genomic regions that arise when two copies of identical haplotypes are inherited from a shared common ancestor. In this study, we leverage ROH to identify associations between genetic diversity and non-disease phenotypes in (dogs). We find significant association between the ROH inbreeding coefficient (F) and several phenotypic traits. These traits include height, weight, lifespan, muscled, white coloring of the head and chest, furnishings, and fur length. After correcting for population structure, we identified more than 45 genes across the examined quantitative traits that exceed the threshold for suggestive significance. We observe distinct distributions of inbreeding and elevated levels of long ROH in modern breed dogs compared to more ancient breeds, which aligns with breeding practices during Victorian era breed establishment. Our results highlight the impact of non-additive variation and of polygenicity on complex quantitative phenotypes in dogs due to domestication and the breed formation bottleneck.
纯合子连续片段（ROH）是指当从共同祖先继承了两份相同单倍型时出现的基因组区域。在本研究中，我们利用ROH来识别（狗的）遗传多样性与非疾病表型之间的关联。我们发现ROH近亲繁殖系数（F）与几个表型特征之间存在显著关联。这些特征包括身高、体重、寿命、肌肉发达程度、头部和胸部的白色毛色、装饰毛以及毛长。在对群体结构进行校正后，我们在检测的数量性状中鉴定出超过45个基因，这些基因超过了提示性显著阈值。与更古老的品种相比，我们观察到现代品种犬中近亲繁殖的独特分布以及长ROH水平的升高，这与维多利亚时代品种形成过程中的育种实践一致。我们的结果突出了驯化和品种形成瓶颈导致的非加性变异和多基因性对狗复杂数量表型的影响。
