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https://doi.org/10.1101/2024.0...
Article . 2024 . Peer-reviewed
License: CC BY
Data sources: Crossref
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PubMed Central
Other literature type . 2025
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Article . 2024 . Peer-reviewed
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https://dx.doi.org/10.48350/19...
Other literature type . 2024
Data sources: Datacite
ETH Zürich Research Collection
Article . 2025
License: CC BY NC
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https://dx.doi.org/10.48620/84...
Other literature type . 2025
Data sources: Datacite
ETH Zürich Research Collection
Research . 2024
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Taurine pangenome uncovers a segmental duplication upstream of KIT associated with depigmentation in white-headed cattle

Authors: Milia, Sotiria; Leonard, Alexander; Mapel, Xena Marie; Bernal Ulloa, Sandra Milena; Drögemüller, Cord; Pausch, Hubert;

Taurine pangenome uncovers a segmental duplication upstream of KIT associated with depigmentation in white-headed cattle

Abstract

Cattle have been selectively bred for coat color, spotting, and depigmentation patterns. The assumed autosomal dominant inherited genetic variants underlying the characteristic white head of Fleckvieh, Simmental, and Hereford cattle have not been identified yet, although the contribution of structural variation upstream of the KIT gene has been proposed. Here, we construct a graph pangenome from 24 haplotype assemblies representing seven taurine cattle breeds to identify and characterize the white-head-associated locus for the first time based on long-read sequencing data and pangenome analyses. We introduce a pangenome-wide association mapping approach that examines assembly path similarities within the graph to reveal an association between two most likely serial alleles of a complex structural variant (SV) 66 kb upstream of KIT and facial depigmentation. The complex SV contains a variable number of tandemly duplicated 14.3 kb repeats, consisting of LTRs, LINEs, and other repetitive elements, leading to misleading alignments of short and long reads when using a linear reference. We align 250 short-read sequencing samples spanning 15 cattle breeds to the pangenome graph, further validating that the alleles of the SV segregate with head depigmentation. We estimate an increased count of repeats in Hereford relative to Simmental and other white-headed cattle breeds from the graph alignment coverage, suggesting a large under-assembly in the current Hereford-based cattle reference genome, which had fewer copies. Our work shows that exploiting assembly path similarities within graph pangenomes can reveal trait-associated complex SVs.

Country
Switzerland
Related Organizations
Keywords

630 Agriculture, 590 Animals (Zoology), Method

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
15
Top 10%
Average
Top 10%
Green
hybrid