Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle

Author:

Low Wai YeeORCID,Tearle Rick,Liu Ruijie,Koren SergeyORCID,Rhie ArangORCID,Bickhart Derek M.,Rosen Benjamin D.ORCID,Kronenberg Zev N.,Kingan Sarah B.ORCID,Tseng Elizabeth,Thibaud-Nissen FrançoiseORCID,Martin Fergal J.ORCID,Billis KonstantinosORCID,Ghurye Jay,Hastie Alex R.,Lee JoyceORCID,Pang Andy W. C.ORCID,Heaton Michael P.ORCID,Phillippy Adam M.ORCID,Hiendleder StefanORCID,Smith Timothy P. L.ORCID,Williams John L.ORCID

Abstract

AbstractInbred animals were historically chosen for genome analysis to circumvent assembly issues caused by haplotype variation but this resulted in a composite of the two genomes. Here we report a haplotype-aware scaffolding and polishing pipeline which was used to create haplotype-resolved, chromosome-level genome assemblies of Angus (taurine) and Brahman (indicine) cattle subspecies from contigs generated by the trio binning method. These assemblies reveal structural and copy number variants that differentiate the subspecies and that variant detection is sensitive to the specific reference genome chosen. Six genes with immune related functions have additional copies in the indicine compared with taurine lineage and an indicus-specific extra copy of fatty acid desaturase is under positive selection. The haplotyped genomes also enable transcripts to be phased to detect allele-specific expression. This work exemplifies the value of haplotype-resolved genomes to better explore evolutionary and functional variations.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

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