Fine-Mapping Complex Inversion Breakpoints and Investigating Somatic Pairing in the Anopheles gambiae Species Complex Using Proximity-Ligation Sequencing
| Autor: | Iskander Said, Nora J. Besansky, Maria Calzetta, Max Genetti, Jakob McBroome, Nicholas W. Maurer, Vincenzo Petrarca, Alessandra della Torre, Russell Corbett-Detig |
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| Rok vydání: | 2019 |
| Předmět: |
0106 biological sciences
sequence analysis Somatic cell Anopheles gambiae Genome Insect dna anopheles chromosomal inversion hi-c animals chromosome inversion confidence intervals evolution molecular genome insect heterozygote karyotype reproducibility of results sequence analysis dna chromosome breakpoints physical chromosome mapping 01 natural sciences Chromosome Breakpoints 0302 clinical medicine Hi-C Chromosomal inversion Genetics 0303 health sciences Genome biology Physical Chromosome Mapping 3. Good health Infectious Diseases Sequence Analysis Biotechnology Heterozygote Species complex Genome evolution Evolution Karyotype 030231 tropical medicine Genomics Investigations 010603 evolutionary biology Evolution Molecular 03 medical and health sciences Anopheles evolution Confidence Intervals Animals Chromosomal Inversion molecular Repeated sequence genome 030304 developmental biology Local adaptation Breakpoint Reproducibility of Results Molecular Inversion (meteorology) Sequence Analysis DNA DNA biology.organism_classification Vector-Borne Diseases Good Health and Well Being Evolutionary biology Pairing Chromosome Inversion insect Insect Developmental Biology |
| Zdroj: | Genetics, vol 213, iss 4 Genetics |
| ISSN: | 1943-2631 |
| Popis: | In this work, Corbett-Detig et al. use proximity-ligation sequencing (Hi-C) of several Anopheles gambiae and A. coluzzii inversionbearing individuals to detect and map inversion breakpoints. They show that inversion breakpoints can be mapped precisely... Chromosomal inversions are fundamental drivers of genome evolution. In the main Afrotropical malaria vector species, belonging to the Anopheles gambiae species complex, inversions play an important role in local adaptation and have a rich history of cytological study. Despite the importance and ubiquity of some chromosomal inversions across the species complex, inversion breakpoints are often challenging to map molecularly due to the presence of large repetitive regions. Here, we develop an approach that uses Hi-C sequencing data to molecularly fine-map the breakpoints of inversions. We demonstrate that this approach is robust and likely to be widely applicable for both identification and fine-mapping inversion breakpoints in species whose inversions have heretofore been challenging to characterize. We apply our method to interrogate the previously unknown inversion breakpoints of 2Rbc and 2Rd in An. coluzzii. We found that inversion breakpoints occur in large repetitive regions, and, strikingly, among three inversions analyzed, two breakpoints appear to be reused in two separate inversions. These breakpoint-adjacent regions are strongly enriched for the presence of a 30 bp satellite repeat sequence. Because low frequency inversion breakpoints are not correlated with genomic regions containing this satellite, we suggest that interrupting this particular repeat may result in arrangements with higher relative fitness. Additionally, we use heterozygous individuals to quantitatively investigate the impacts of somatic pairing in the regions immediately surrounding inversion breakpoints. Finally, we discuss important considerations for possible applications of this approach for inversion breakpoint identification in a range of organisms. |
| Databáze: | OpenAIRE |
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