Wilcox Justin J S, Arca-Ruibal Barbara, Samour Jaime, Mateuta Victor, Idaghdour Youssef, Boissinot Stéphane
Center for Genomics & Systems Biology, New York University Abu Dhabi, Saadiyat Island, PO Box 129188, Abu Dhabi, United Arab Emirates.
Al Aseefa Falcon Hospital, Nad Al Sheeba, Dubai, United Arab Emirates.
Genome Biol Evol. 2022 Jun 14;14(6). doi: 10.1093/gbe/evac090.
Falcons are diverse birds of cultural and economic importance. They have undergone major lineage-specific chromosomal rearrangements, resulting in greatly-reduced chromosome counts relative to other birds. Here, we use 10X Genomics linked reads to provide new high-contiguity genomes for two gyrfalcons, a saker falcon, a lanner falcon, three subspecies of peregrine falcons, and the common kestrel. Assisted by a transcriptome sequenced from 22 gyrfalcon tissues, we annotate these genomes for a variety of genomic features, estimate historical demography, and then investigate genomic equilibrium in the context of falcon-specific chromosomal rearrangements. We find that falcon genomes are not in AT-GC equilibrium with a bias in substitutions towards higher AT content; this bias is predominantly but not exclusively driven by hypermutability of CpG sites. Small indels and large structural variants were also biased towards insertions rather than deletions. Patterns of disequilibrium were linked to chromosomal rearrangements: falcons have lost GC content in regions that have fused to larger chromosomes from microchromosomes and gained GC content in regions of macrochromosomes that have translocated to microchromosomes. Inserted bases have accumulated on regions ancestrally belonging to microchromosomes, consistent with insertion-biased gene conversion. We also find an excess of interspersed repeats on regions of microchromosomes that have fused to macrochromosomes. Our results reveal that falcon genomes are in a state of flux. They further suggest that many of the key differences between microchromosomes and macrochromosomes are driven by differences in chromosome size, and indicate a clear role for recombination and biased-gene-conversion in determining genomic equilibrium.
隼是具有文化和经济重要性的多样化鸟类。它们经历了主要的谱系特异性染色体重排,导致相对于其他鸟类染色体数量大幅减少。在这里,我们使用10X基因组学连接读数为两只矛隼、一只猎隼、一只茶隼、三种游隼亚种和一只普通红隼提供了新的高连续性基因组。借助从22个矛隼组织测序的转录组,我们对这些基因组进行了各种基因组特征注释,估计了历史种群动态,然后在隼特异性染色体重排的背景下研究基因组平衡。我们发现隼基因组不存在AT - GC平衡,替换偏向于更高的AT含量;这种偏向主要但并非完全由CpG位点的高突变性驱动。小插入缺失和大结构变异也偏向于插入而非缺失。不平衡模式与染色体重排有关:隼在从小染色体融合到更大染色体的区域中失去了GC含量,而在从大染色体易位到小染色体的区域中获得了GC含量。插入碱基在祖先属于小染色体的区域积累,这与插入偏向的基因转换一致。我们还在融合到大染色体的小染色体区域发现了过多的散布重复序列。我们的结果表明隼基因组处于动态变化状态。它们进一步表明,小染色体和大染色体之间的许多关键差异是由染色体大小差异驱动的,并表明重组和偏向基因转换在决定基因组平衡方面具有明确作用。