Department of Evolutionary Biology and Science for Life Laboratory, Uppsala University, 752 36, Uppsala, Sweden.
Division of Evolutionary Biology, Faculty of Biology, LMU Munich, Grosshaderner Str. 2, 82152, Planegg-Martinsried, Germany.
Nat Commun. 2020 Jul 7;11(1):3403. doi: 10.1038/s41467-020-17195-4.
Structural variation (SV) constitutes an important type of genetic mutations providing the raw material for evolution. Here, we uncover the genome-wide spectrum of intra- and interspecific SV segregating in natural populations of seven songbird species in the genus Corvus. Combining short-read (N = 127) and long-read re-sequencing (N = 31), as well as optical mapping (N = 16), we apply both assembly- and read mapping approaches to detect SV and characterize a total of 220,452 insertions, deletions and inversions. We exploit sampling across wide phylogenetic timescales to validate SV genotypes and assess the contribution of SV to evolutionary processes in an avian model of incipient speciation. We reveal an evolutionary young (~530,000 years) cis-acting 2.25-kb LTR retrotransposon insertion reducing expression of the NDP gene with consequences for premating isolation. Our results attest to the wealth and evolutionary significance of SV segregating in natural populations and highlight the need for reliable SV genotyping.
结构变异 (SV) 是提供进化原材料的重要遗传突变类型之一。在这里，我们揭示了七种鸦科鸟类自然种群中SV 的全基因组范围的种内和种间分离。我们结合短读（N=127）和长读重测序（N=31）以及光学作图（N=16），应用组装和读映射方法来检测 SV，并总共描述了 220452 个插入、缺失和倒位。我们利用广泛的系统发育时间尺度的采样来验证 SV 基因型，并评估 SV 对处于起始物种形成阶段的鸟类模型中的进化过程的贡献。我们揭示了一个进化较年轻的（~530000 年）顺式作用 2.25-kb LTR 反转录转座子插入，降低了 NDP 基因的表达，从而导致了交配前的隔离。我们的研究结果证明了 SV 在自然种群中分离的丰富性和进化意义，并强调了对可靠 SV 基因分型的需求。
