Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats

We identified a genomic region with complex SVs near EDNRA on chromosome 17 as a major locus influencing pigmented spot sizes in TF goats. We further pinpointed the causal mutations to an approximately 80-kb inverted duplication. Additionally, we detected a strong secondary association signal on chromosome 4. Our findings deepen the understanding of genetic variations underlying pigmentation in goats and provide valuable insights for selective breeding and conservation efforts.

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Publication Details

Journal
BMC Genomics
Published
2025-09-29
DOI
https://doi.org/10.1186/s12864-025-12055-1
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.00

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article

Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats

Quanjun Xiang, Xihong Wang, Hong Ping Zhang, Qiuyang Huang et al.
BMC Genomics
melanin and skin pigmentation
article

Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats

Quanjun Xiang, Xihong Wang, Hong Ping Zhang, Qiuyang Huang, George E. Liu, Peipei Bian, Jiazhong Guo, Li Li, Guo Hao Wu
article en

Abstract

We identified a genomic region with complex SVs near EDNRA on chromosome 17 as a major locus influencing pigmented spot sizes in TF goats. We further pinpointed the causal mutations to an approximately 80-kb inverted duplication. Additionally, we detected a strong secondary association signal on chromosome 4. Our findings deepen the understanding of genetic variations underlying pigmentation in goats and provide valuable insights for selective breeding and conservation efforts.

BMC GenomicsVol. 26(1)
Agricultural Research Service (US), Sichuan Agricultural University (CN), Northwest A&F University (CN)
U.S. Department of Agriculture, European Commission, Natural Science Foundation of Sichuan Province, National Institute of Food and Agriculture
Openalex Percentile: Top 72%
melanin and skin pigmentation
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Whole-genome sequencing reveals complex structural variations at a major locus linked to pigmented spot sizes in Tianfu goats — Quanjun Xiang, Xihong Wang, et al. · BMC Genomics (2025) | TGRS Research Map | TGRS