Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal new biological insights

摘要: ABSTRACT Cryptosporidiosis is a leading cause of waterborne diarrheal disease globally and an important contributor to mortality in infants the immunosuppressed. Despite its importance, Cryptosporidium community still relies on fragmented reference genome sequence from 2004. Incomplete sequences hamper experimental design interpretation. We have generated new C. parvum IOWA assembly supported by PacBio Oxford Nanopore long-read technologies comparative consistent annotation for three closely related species , hominis tyzzeri . The larger, gap free lacks ambiguous bases. This chromosomal recovers 13 16 possible telomeres raises hypothesis remaining associated subtelomeric regions. Comparative revealed that most “missing” orthologs are found suggesting differences result primarily structural rearrangements, gene copy number variation SNVs parvum, made >1,500 parvu m updates based evidence. They included transporters, ncRNAs, introns altered structures. complete DNA methylase Dnmt2 ortholog. 190 genes under positive selection including many candidates were identified using as reference. Finally, amplification events detected reveal level plasticity will both inform impact future research.