Structural variation-driven <i>FADS2P1</i> expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats

Wenze Li; Qi Lv; Yixin Su; Can Liu; Xianjin Jing; Yujiang Wu; Xin Wang; Guobo Quan; Di Han; Chun Li; Bouabid Badaoui; Langda Suo; Gao Gong; Na Wang; Oljibilig Chen; Yixing Fan; Jianning He; Shaobin Li; Peng Zhao; Xiaochun Yan; Ruijun Wang; Yanjun Zhang; Jinquan Li; Zhiying Wang; Yongbin Liu; Rui Su

doi:10.1016/j.jgg.2026.03.007

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Structural variation-driven FADS2P1 expression modulates hair trait diversity through unsaturated fatty acid metabolism in goats

doi: 10.1016/j.jgg.2026.03.007

Wenze Li^a,b,c,
Qi Lv^a,b,c,
Yixin Su^a,b,c,
Can Liu^a,b,c,
Xianjin Jing^a,b,c,
Yujiang Wu^d,
Xin Wang^e,
Guobo Quan^f,
Di Han^g,
Chun Li^h,
Bouabid Badaouiⁱ,
Langda Suo^d,
Gao Gong^j,
Na Wang^k,
Oljibilig Chen^l,
Yixing Fan^m,
Jianning Heⁿ,
Shaobin Li^o,
Peng Zhao^p,
Xiaochun Yan^a,b,c,
Ruijun Wang^a,b,c,
Yanjun Zhang^a,b,c,
Jinquan Li^a,b,c,
Zhiying Wang^a,b,c,
Yongbin Liu^a,b,c,
Rui Su^a,b,c

Funds:

We thank Erlangshan Ranch of Inner Mongolia Beiping Textile Co., Ltd., Alashan Cashmere Goat Breeding Farm, Taiyuan Cashmere Goat Comprehensive Experimental Station, Hainan Black Goat Breeding Farm of Chinese Academy of Tropical Agricultural Sciences, and other organizations for their assistance in sample collection.This work was financially supported by National Key Research and Development Program of China (2022YFE0113300, 2022YFD1300204, 2022YFD1300201), Natural Science Foundation of Inner Mongolia Autonomous Region of China (2025JQ022), Outstanding Youth Science Fund Cultivation Project of Inner Mongolia Agricultural University (BR230304), China Agriculture Research System of MOF and MARA (No. CARS-39), Inner Mongolia Education Department Special Research Project For First Class Disciplines (YLXKZX-NND-007), Science and Technology Plan of Inner Mongolia Autonomous Region (2023KYPT0021), Special A-class Team Project for Research and Innovation Team Construction of Inner Mongolia Agricultural University (BR251201), and High-level Achievement Cultivation Special Project of college of Animal Science, Inner Mongolia Agricultural University (CG202416).

Received Date: 2025-11-11
Accepted Date: 2026-03-10
Rev Recd Date: 2026-03-08

Available Online: 2026-03-16

Abstract

Abstract

Through natural and artificial selection, goats develop distinct hair phenotypes driven by genomic variations, such as structural variations (SVs). The fatty acid desaturase (FADS) family plays an important role in hair follicle (HF) growth, yet its molecular mechanisms remain unclear. In this study, we construct a goat graph-based pangenome containing 99,792 non-redundant presence-absence variations (PAVs) from 16 goat breeds. Using this pangenome, we identify 15,866 allelic variants of PAVs with distinct dominant frequencies (dPAVs) from the resequencing data of 300 goats. Among them, 1290 dPAVs regulate the expression of 772 corresponding genes in cashmere goats (CGs) with different hair types over 12 months. We identify an expanded FADS2P1 gene family with two intact copies and one truncated copy within segmental duplications. An intron deletion in the truncated FADS2P1 copy shows population-specific distribution patterns among goats with cashmere traits. All FADS2P1 copies are significantly upregulated in short-hair CGs, and their expression levels are negatively correlated with oleic acid (OA) levels. Functional validation in FADS2P1 knock-in mice indicates a slower hair growth rate and reduced HF numbers. These findings demonstrate that SV-driven FADS2P1 expression regulates HF development and growth through OA metabolism, providing insights into how PAVs influence complex phenotypes.
- Structural variations,
- Fatty acid desaturase,
- Unsaturated fatty acids,
- Periodic growth,
- Hair follicles,
- Goat

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References(109)

References

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