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2017 ; 27
(5
): 875-884
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Upgrading short-read animal genome assemblies to chromosome level using
comparative genomics and a universal probe set
#MMPMID27903645
Damas J
; O'Connor R
; Farré M
; Lenis VPE
; Martell HJ
; Mandawala A
; Fowler K
; Joseph S
; Swain MT
; Griffin DK
; Larkin DM
Genome Res
2017[May]; 27
(5
): 875-884
PMID27903645
show ga
Most recent initiatives to sequence and assemble new species' genomes de novo
fail to achieve the ultimate endpoint to produce contigs, each representing one
whole chromosome. Even the best-assembled genomes (using contemporary
technologies) consist of subchromosomal-sized scaffolds. To circumvent this
problem, we developed a novel approach that combines computational algorithms to
merge scaffolds into chromosomal fragments, PCR-based scaffold verification, and
physical mapping to chromosomes. Multigenome-alignment-guided probe selection led
to the development of a set of universal avian BAC clones that permit rapid
anchoring of multiple scaffolds to chromosomes on all avian genomes. As proof of
principle, we assembled genomes of the pigeon (Columbia livia) and peregrine
falcon (Falco peregrinus) to chromosome levels comparable, in continuity, to
avian reference genomes. Both species are of interest for breeding, cultural,
food, and/or environmental reasons. Pigeon has a typical avian karyotype (2n =
80), while falcon (2n = 50) is highly rearranged compared to the avian ancestor.
By using chromosome breakpoint data, we established that avian interchromosomal
breakpoints appear in the regions of low density of conserved noncoding elements
(CNEs) and that the chromosomal fission sites are further limited to long CNE
"deserts." This corresponds with fission being the rarest type of rearrangement
in avian genome evolution. High-throughput multiple hybridization and rapid
capture strategies using the current BAC set provide the basis for assembling
numerous avian (and possibly other reptilian) species, while the overall strategy
for scaffold assembly and mapping provides the basis for an approach that
(provided metaphases can be generated) could be applied to any animal genome.