» Articles » PMID: 39333471

Telomere-to-telomere Assemblies of Cattle and Sheep Y-chromosomes Uncover Divergent Structure and Gene Content

Abstract

Reference genomes of cattle and sheep have lacked contiguous assemblies of the sex-determining Y chromosome. Here, we assemble complete and gapless telomere to telomere (T2T) Y chromosomes for these species. We find that the pseudo-autosomal regions are similar in length, but the total chromosome size is substantially different, with the cattle Y more than twice the length of the sheep Y. The length disparity is accounted for by expanded ampliconic region in cattle. The genic amplification in cattle contrasts with pseudogenization in sheep suggesting opposite evolutionary mechanisms since their divergence 19MYA. The centromeres also differ dramatically despite the close relationship between these species at the overall genome sequence level. These Y chromosomes have been added to the current reference assemblies in GenBank opening new opportunities for the study of evolution and variation while supporting efforts to improve sustainability in these important livestock species that generally use sire-driven genetic improvement strategies.

Citing Articles

Telomere-to-telomere sheep genome assembly identifies variants associated with wool fineness.

Luo L, Wu H, Zhao L, Zhang Y, Huang J, Liu Q Nat Genet. 2025; 57(1):218-230.

PMID: 39779954 DOI: 10.1038/s41588-024-02037-6.


Pangenome graphs and their applications in biodiversity genomics.

Secomandi S, Gallo G, Rossi R, Rodriguez Fernandes C, Jarvis E, Bonisoli-Alquati A Nat Genet. 2025; 57(1):13-26.

PMID: 39779953 DOI: 10.1038/s41588-024-02029-6.

References
1.
Skaletsky H, Kuroda-Kawaguchi T, Minx P, Cordum H, Hillier L, Brown L . The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003; 423(6942):825-37. DOI: 10.1038/nature01722. View

2.
Danecek P, Bonfield J, Liddle J, Marshall J, Ohan V, Pollard M . Twelve years of SAMtools and BCFtools. Gigascience. 2021; 10(2). PMC: 7931819. DOI: 10.1093/gigascience/giab008. View

3.
Johnson T, Keehan M, Harland C, Lopdell T, Spelman R, Davis S . Short communication: Identification of the pseudoautosomal region in the Hereford bovine reference genome assembly ARS-UCD1.2. J Dairy Sci. 2019; 102(4):3254-3258. DOI: 10.3168/jds.2018-15638. View

4.
Wenger A, Peluso P, Rowell W, Chang P, Hall R, Concepcion G . Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019; 37(10):1155-1162. PMC: 6776680. DOI: 10.1038/s41587-019-0217-9. View

5.
Yamada K, Tomii K, Katoh K . Application of the MAFFT sequence alignment program to large data-reexamination of the usefulness of chained guide trees. Bioinformatics. 2016; 32(21):3246-3251. PMC: 5079479. DOI: 10.1093/bioinformatics/btw412. View