López Ainhoa, Carreras Carlos, Pascual Marta, Pegueroles Cinta
Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.
Institut de Recerca de la Biodiversitat (IRBio), Universitat de Barcelona (UB), Barcelona, Spain.
Mol Ecol Resour. 2025 Jul;25(5):e13865. doi: 10.1111/1755-0998.13865. Epub 2023 Sep 14.
Conservation genomic studies in non-model organisms generally rely on reduced representation sequencing techniques based on restriction enzymes to identify population structure as well as candidate loci for local adaptation. While the expectation is that the reduced representation of the genome is randomly distributed, the proportion of the genome sampled might depend on the GC content of the recognition site of the restriction enzyme used. Here, we evaluated the distribution and functional composition of loci obtained after a reduced representation approach using Genotyping-by-Sequencing (GBS). To do so, we compared experimental data from two endemic fish species (Symphodus ocellatus and Symphodus tinca, EcoT22I enzyme) and two ecosystem engineer sea urchins (Paracentrotus lividus and Arbacia lixula, ApeKI enzyme). In brief, we mapped the sequenced loci to the phylogenetically closest reference genome available (Labrus bergylta in the fish and Strongylocentrotus purpuratus in the sea urchin datasets), classified them as exonic, intronic and intergenic, and studied their function by using Gene Ontology (GO) terms. We also simulated the effect of using both enzymes in the two reference genomes. In both simulated and experimental data, we detected an enrichment towards exonic or intergenic regions depending on the restriction enzyme used and failed to detect differences between total loci and candidate loci for adaptation in the empirical dataset. Most of the functions assigned to the mapped loci were shared between the four species and involved a myriad of general functions. Our results highlight the importance of restriction enzyme selection and the need for high-quality annotated genomes in conservation genomic studies.
非模式生物的保护基因组学研究通常依赖基于限制性酶的简化基因组测序技术来识别种群结构以及局部适应性的候选基因座。虽然预期基因组的简化表示是随机分布的,但所采样的基因组比例可能取决于所用限制性酶识别位点的GC含量。在这里,我们评估了使用简化基因组测序(GBS)方法后获得的基因座的分布和功能组成。为此,我们比较了两种特有鱼类(眼斑钝塘鳢和丁氏钝塘鳢,使用EcoT22I酶)和两种生态系统工程师海胆(紫球海胆和刺冠海胆,使用ApeKI酶)的实验数据。简而言之,我们将测序的基因座映射到可用的系统发育上最接近的参考基因组(鱼类中的褐菖鲉和海胆数据集中的紫海胆),将它们分类为外显子、内含子和基因间区域,并使用基因本体(GO)术语研究它们的功能。我们还模拟了在两个参考基因组中使用这两种酶的效果。在模拟和实验数据中,我们根据所用的限制性酶检测到外显子或基因间区域的富集,并且在实证数据集中未能检测到总基因座和适应性候选基因座之间的差异。分配给映射基因座的大多数功能在这四个物种之间是共享的,并且涉及众多一般功能。我们的结果强调了限制性酶选择的重要性以及在保护基因组学研究中高质量注释基因组的必要性。