Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.
Charité Universitätsmedizin, Berlin, Germany.
Elife. 2020 Mar 25;9:e51243. doi: 10.7554/eLife.51243.
Protozoan parasites of the complex - and - cause the fatal disease visceral leishmaniasis. We present the first comprehensive genome-wide global study, with 151 cultured field isolates representing most of the geographical distribution. isolates separated into five groups that largely coincide with geographical origin but vary greatly in diversity. In contrast, the majority of samples fell into one globally-distributed group with little diversity. This picture is complicated by several hybrid lineages. Identified genetic groups vary in heterozygosity and levels of linkage, suggesting different recombination histories. We characterise chromosome-specific patterns of aneuploidy and identified extensive structural variation, including known and suspected drug resistance loci. This study reveals greater genetic diversity than suggested by geographically-focused studies, provides a resource of genomic variation for future work and sets the scene for a new understanding of the evolution and genetics of the complex.
复杂的原生动物寄生虫和导致致命的内脏利什曼病。我们呈现了第一项全面的全基因组全球研究,其中包括代表大部分地理分布的 151 个培养的野外分离株。这些分离株分为五个组,这些组在很大程度上与地理起源一致,但在多样性上有很大的差异。相比之下,大多数 样本归入一个全球分布的组,多样性很小。这种情况因几个杂种谱系而变得复杂。鉴定出的遗传群在杂合度和连锁水平上存在差异,表明存在不同的重组历史。我们描述了非整倍体和广泛的结构变异的染色体特异性模式,包括已知和可疑的耐药基因座。这项研究揭示了比地理聚焦研究所显示的更大的遗传多样性,为未来的工作提供了基因组变异资源,并为 复合体的进化和遗传学的新理解奠定了基础。