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A haplotype-resolved bluethroat (Luscinia s. svecica) genome assembly uncovers the complex MHC region

Marius A. StrandiD, Emily Louise Gilbert Enevoldsen, Ole K. TørreseniD, Morten SkageiD, Giada FerrariiD, Ave Tooming‐KlunderudiD, Erica H. LederiD, Jan Terje LifjeldiD, Arild JohnseniD, Kjetill S. JakobseniD

Abstract

We describe a chromosome-level, haplotype-resolved genome assembly from a female bluethroat (Luscinia s. svecica). The assembly comprises two pseudo-haplotypes of 1461 Mb and 1171 Mb, with 77.4% and 88.4% scaffolded into 40 autosomal chromosomes and the W and Z sex chromosomes (haplotype one). Assembly completeness is high (BUSCO 99.2% and 94.9%), with 22,462 and 18,769 annotated protein-coding genes for haplotypes one and two, respectively. The use of Oxford Nanopore Technologies sequencing enables resolution of genomic regions that are often fragmented in genome assemblies, including the hypervariable Major Histocompatibility Complex (MHC). We find that MHC loci include both the canonical organization of tandemly duplicated MHCII{beta} genes with a single MHCIIA, and a distinct arrangement in which MHCI and MHCII{beta} loci are interspersed in intermixed arrays, and that substantial structural differences between haplotypes are directly resolved in the assembly.

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02 /Specification & Classification

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