Department of Population Health and Reproduction, University of California-Davis, Davis, CA 95616, USA.
Department of Surgical and Radiological Sciences, University of California-Davis, Davis, CA 95616, USA.
Genes (Basel). 2020 Jul 23;11(8):839. doi: 10.3390/genes11080839.
Two transcribed retrocopies of the fibroblast growth factor 4 () gene have previously been described in the domestic dog. An retrocopy on chr18 is associated with disproportionate dwarfism, while an retrocopy on chr12 is associated with both disproportionate dwarfism and intervertebral disc disease (IVDD). In this study, whole-genome sequencing data were queried to identify other retrocopies that could be contributing to phenotypic diversity in canids. Additionally, dogs with surgically confirmed IVDD were assayed for novel retrocopies. Five additional and distinct retrocopies were identified in canids including a copy unique to red wolves (). The retrocopies identified in domestic dogs were identical to domestic dog haplotypes, which are distinct from modern wolf haplotypes, indicating that these retrotransposition events likely occurred after domestication. The identification of multiple, full length retrocopies with open reading frames in canids indicates that gene retrotransposition events occur much more frequently than previously thought and provide a mechanism for continued genetic and phenotypic diversity in canids.
先前已在犬类中描述了两个成纤维细胞生长因子 4()基因的转录反转录副本。18 号染色体上的一个 反转录副本与不成比例的矮小症有关，而 12 号染色体上的一个 反转录副本与不成比例的矮小症和椎间盘疾病 (IVDD) 有关。在这项研究中，对全基因组测序数据进行了查询，以确定其他可能导致犬类表型多样性的 反转录副本。此外，还对经手术证实患有 IVDD 的犬进行了新型 反转录副本的检测。在犬类中还鉴定了另外五个不同的 反转录副本，包括红狼（）特有的一个副本。在犬类中鉴定的 反转录副本与犬类的单倍型相同，与现代狼的单倍型不同，表明这些反转座事件可能发生在驯化之后。在犬类中鉴定出多个具有开放阅读框的全长 反转录副本表明，基因反转座事件发生的频率远高于先前的预期，为犬类的持续遗传和表型多样性提供了一种机制。
