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  Distinct patterns of genetic variation at low-recombining genomic regions represent haplotype structure

Ishigohoka, J., Bascón-Cardozo, K., Bours, A., Fuß, J., Rhie, A., Mountcastle, J., et al. (submitted). Distinct patterns of genetic variation at low-recombining genomic regions represent haplotype structure.

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 Creators:
Ishigohoka, Jun1, 2, Author           
Bascón-Cardozo, Karen1, 2, Author           
Bours, Andrea1, 2, Author           
Fuß, Janina, Author
Rhie, Arang, Author
Mountcastle, Jacquelyn, Author
Haase, Bettina, Author
Chow, William, Author
Collins, Joanna, Author
Howe, Kerstin, Author
Uliano-Silva, Marcela, Author
Fedrigo, Oliver, Author
Jarvis, Erich D., Author
Pérez-Tris, Javier, Author
Illera, Juan Carlos, Author
Liedvogel, Miriam2, Author                 
Affiliations:
1IMPRS for Evolutionary Biology, Max Planck Institute for Evolutionary Biology, Max Planck Society, ou_1445639              
2Max Planck Research Group Behavioural Genomics (Liedvogel), Max Planck Institute for Evolutionary Biology, Max Planck Society, ou_2129640              

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 Abstract: Genetic variation of the entire genome represents population structure, yet individual loci can show distinct patterns. Such deviations identified through genome scans have often been attributed to effects of selective factors instead of randomness, assuming that the genomic intervals are long enough to average out randomness in underlying genealogies. However, an alternative explanation to distinct patterns has not been fully addressed: too few genealogies to average out the effect of randomness. Specifically, distinct patterns of genetic variation may be due to reduced local recombination rate, since the number of genealogies in a genomic interval corresponds to the number of ancestral recombination events. Here, we associate distinct patterns of local genetic variation with reduced recombination rate in a songbird, the Eurasian blackcap, using genome sequences and recombination maps. We find that distinct patterns of local genetic variation represent haplotype structure at low-recombining regions present either in all populations or only in a few populations. At the former species-wide low-recombining regions, genetic variation depicts conspicuous haplotypes segregating in multiple populations. On the contrary, at the latter population-specific low-recombining regions, genetic variation primarily represents cryptic haplotype structure among individuals of the low-recombining populations. With simulations, we confirm that reduction in recombination rate alone can cause distinct patterns of genetic variation mirroring our empirical data. Our results highlight that distinct patterns of genetic variation can emerge through evolution of reduced local recombination rate. Recombination landscape as an evolvable trait therefore plays an important role determining the heterogeneous distribution of genetic variation along the genome.

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Language(s): eng - English
 Dates: 2023-09-202024-02-16
 Publication Status: Submitted
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: No review
 Identifiers: DOI: 10.1101/2021.12.22.473882
 Degree: -

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