Open AccessChromosome-level genome of Schistosoma haematobium underpins genome-wide explorations of molecular variation
Author(s) -
Andreas J. Stroehlein,
Pasi K. Korhonen,
V Vern Lee,
Stuart A. Ralph,
Margaret Mentink-Kane,
Hong You,
Donald P. McManus,
Louis-Albert Tchuem Tchuenté,
J. Russell Stothard,
Parwinder Kaur,
Olga Dudchenko,
E Aiden,
Bicheng Yang,
Huanming Yang,
Aidan Emery,
Bonnie L. Webster,
Paul J Brindley,
David Rollinson,
Bill Chia-Han Chang,
Robin B. Gasser,
Neil D. Young
Publication year - 2022
Publication title -
plos pathogens
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.719
H-Index - 206
eISSN - 1553-7374
pISSN - 1553-7366
DOI - 10.1371/journal.ppat.1010288
Subject(s) - biology , schistosoma haematobium , genome , tropical disease , population , population genomics , genetics , genomics , disease , evolutionary biology , immunology , gene , schistosomiasis , pathology , helminths , medicine , environmental health
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.