Abstract：
Urogenital schistosomiasis is caused by the blood fluke Schistosoma haematobium and is one of the most neglected tropical diseases worldwide, afflicting > 100 million people. It is characterised by granulomata, fibrosis and calcification in urogenital tissues, and can lead to increased susceptibility to HIV/AIDS and squamous cell carcinoma of the bladder. To complement available treatment programs and break the transmission of disease, sound knowledge and understanding of the biology and ecology of S. haematobium is required. Hybridisation/introgression events and molecular variation among members of the S. haematobium-group might effect important biological and/or disease traits as well as the morbidity of disease and the effectiveness of control programs including mass drug administration. Here we report the first chromosome-contiguous genome for a well-defined laboratory line of this blood fluke. An exploration of this genome using transcriptomic data for all key developmental stages allowed us to refine gene models (including non-coding elements) and annotations, discover \'new\' genes and transcription profiles for these stages, likely linked to development and/or pathogenesis. Molecular variation within S. haematobium among some geographical locations in Africa revealed unique genomic \'signatures\' that matched species other than S. haematobium, indicating the occurrence of introgression events. The present reference genome (designated Shae.V3) and the findings from this study solidly underpin future functional genomic and molecular investigations of S. haematobium and accelerate systematic, large-scale population genomics investigations, with a focus on improved and sustained control of urogenital schistosomiasis.
摘要：
泌尿生殖道血吸虫病是由血吸虫血吸虫引起的,是世界上最被忽视的热带病之一,折磨着超过1亿人。它的特点是肉芽肿，泌尿生殖组织的纤维化和钙化，并可能导致对HIV/AIDS和膀胱鳞状细胞癌的易感性增加。为了补充现有的治疗方案，打破疾病的传播，需要良好的知识和生物学和生态学的理解。血吸虫群成员之间的杂交/渗入事件和分子变异可能会影响重要的生物学和/或疾病特征以及疾病的发病率和包括大规模药物施用的控制程序的有效性。在这里，我们报告了这种血吸虫的明确定义的实验室线的第一个染色体连续基因组。使用转录组数据对所有关键发育阶段的基因组进行探索，使我们能够完善基因模型（包括非编码元件）和注释，发现这些阶段的新基因和转录谱，可能与发育和/或发病机制有关。在非洲某些地理位置中，S.hematobium内的分子变异揭示了独特的基因组“特征”，与S.hematobium以外的物种相匹配。指示渗入事件的发生。本参考基因组(命名为Shae。V3）和这项研究的结果有力地支持了未来的功能性基因组和分子研究。大规模的人口基因组学研究，重点是改善和持续控制泌尿生殖道血吸虫病。
