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Abstract Large-scale structural variations, such as chromosomal translocations, can have profound effects on fitness and phenotype, but are difficult to identify and characterize. Here, we describe a simple and effective method aimed at identifying translocations using only the dosage of sequence reads mapped on the reference genome. We binned reads on genomic segments sized according to sequencing coverage and identified instances when copy number segregated in populations. For each dosage-polymorphic 1 Mb bin, we tested independence, effectively an apparent linkage disequilibrium (LD), with other variable bins. In nine potato (Solanum tuberosum) dihaploid families translocations affecting pericentromeric regions were common and in two cases were due to genomic misassembly. In two populations, we found evidence for translocation affecting euchromatic arms. In cv. PI 310467, a nonreciprocal translocation between chromosomes (chr.) 7 and 8 resulted in a 5–3 copy number change affecting several Mb at the respective chromosome tips. In cv. “Alca Tarma,” the terminal arm of chr. 4 translocated to the tip of chr. 1. Using oligonucleotide-based fluorescent in situ hybridization painting probes (oligo-FISH), we tested and confirmed the predicted arrangement in PI 310467. In 192 natural accessions of Arabidopsis thaliana, dosage haplotypes tended to vary continuously and resulted in higher noise, while apparent LD between pericentromeric regions suggested the effect of repeats. This method, LD-CNV, should be useful in species where translocations are suspected because it tests linkage without the need for genotyping.
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Chromosome painting reveals inter‐chromosomal rearrangements and evolution of subgenome D of wheat
SUMMARY Aegilopsspecies represent the most important gene pool for breeding bread wheat (Triticum aestivum). Thus, understanding the genome evolution, including chromosomal structural rearrangements and syntenic relationships amongAegilopsspecies or betweenAegilopsand wheat, is important for both basic genome research and practical breeding applications. In the present study, we attempted to develop subgenome D‐specific fluorescencein situhybridization (FISH) probes by selecting D‐specific oligonucleotides based on the reference genome of Chinese Spring. The oligo‐based chromosome painting probes consisted of approximately 26 000 oligos per chromosome and their specificity was confirmed in both diploid and polyploid species containing the D subgenome. Two previously reported translocations involving two D chromosomes have been confirmed in wheat varieties and their derived lines. We demonstrate that the oligo painting probes can be used not only to identify the translocations involving D subgenome chromosomes, but also to determine the precise positions of chromosomal breakpoints. Chromosome painting of 56 accessions ofAe. tauschiifrom different origins led us to identify two novel translocations: a reciprocal 3D‐7D translocation in two accessions and a complex 4D‐5D‐7D translocation in one accession. Painting probes were also used to analyze chromosomes from more diverseAegilopsspecies. These probes produced FISH signals in four different genomes. Chromosome rearrangements were identified inAegilops umbellulata,Aegilops markgrafii, andAegilops uniaristata, thus providing syntenic information that will be valuable for the application of these wild species in wheat breeding.
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- Award ID(s):
- 2029959
- PAR ID:
- 10372932
- Publisher / Repository:
- Wiley-Blackwell
- Date Published:
- Journal Name:
- The Plant Journal
- Volume:
- 112
- Issue:
- 1
- ISSN:
- 0960-7412
- Page Range / eLocation ID:
- p. 55-67
- Format(s):
- Medium: X
- Sponsoring Org:
- National Science Foundation
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