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The Beginning of the End: A Chromosomal Assembly of the New World Malaria Mosquito Ends with a Novel Telomere
Author(s) -
Austin Compton,
Jiangtao Liang,
Chujia Chen,
Varvara Lukyanchikova,
Yumin Qi,
Mark Potters,
Robert E. Settlage,
Dustin B. Miller,
Stéphane Deschamps,
Chunhong Mao,
Víctor Llaca,
Igor V. Sharakhov,
Zhijian Tu
Publication year - 2020
Publication title -
g3 genes genomes genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.468
H-Index - 66
ISSN - 2160-1836
DOI - 10.1534/g3.120.401654
Subject(s) - biology , contig , sequence assembly , nanopore sequencing , anopheles albimanus , telomere , genome , genetics , heterochromatin , chromosome , tandem repeat , centromere , repeated sequence , minion , computational biology , evolutionary biology , malaria , anopheles , dna , gene , gene expression , transcriptome , immunology
Chromosome level assemblies are accumulating in various taxonomic groups including mosquitoes. However, even in the few reference-quality mosquito assemblies, a significant portion of the heterochromatic regions including telomeres remain unresolved. Here we produce a de novo assembly of the New World malaria mosquito, Anopheles albimanus by integrating Oxford Nanopore sequencing, Illumina, Hi-C and optical mapping. This 172.6 Mbps female assembly, which we call AalbS3, is obtained by scaffolding polished large contigs (contig N50 = 13.7 Mbps) into three chromosomes. All chromosome arms end with telomeric repeats, which is the first in mosquito assemblies and represents a significant step toward the completion of a genome assembly. These telomeres consist of tandem repeats of a novel 30-32 bp Telomeric Repeat Unit (TRU) and are confirmed by analyzing the termini of long reads and through both chromosomal in situ hybridization and a Bal 31 sensitivity assay. The AalbS3 assembly included previously uncharacterized centromeric and rDNA clusters and more than doubled the content of transposable elements and other repetitive sequences. This telomere-to-telomere assembly, although still containing gaps, represents a significant step toward resolving biologically important but previously hidden genomic components. The comparison of different scaffolding methods will also inform future efforts to obtain reference-quality genomes for other mosquito species.

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