# Identification of Genomic Structural Variations in Xinjiang Brown Cattle by Deep Sequencing and Their Association with Body Conformation Traits

**Authors:** Dan Wang, Tao Zhang, Menghua Zhang, Qiuming Chen, Mengjie Yan, Shengchao Ma, Jiangkun Wang, Xiaoxue Zhang, Kailun Ma, Lei Xu, Xixia Huang

PMC · DOI: 10.3390/ijms26115234 · 2025-05-29

## TL;DR

This study identifies genomic structural variations in Xinjiang Brown cattle and links them to traits like body conformation and milk production.

## Contribution

The study reports high-frequency structural variations and their associations with body conformation traits in Xinjiang Brown cattle.

## Key findings

- 71,668 structural variations were identified, with deletions being the most common type.
- 58 structural variations were significantly associated with five body conformation traits.
- Nine candidate genes were identified as potentially regulating body conformation traits.

## Abstract

Xinjiang Brown cattle is an elite dual-purpose breed (raised for dairy and beef) developed in China. To elucidate its genomic architecture, we conducted whole-genome resequencing of 169 Xinjiang Brown cattle, followed by structural variation (SV) detection and a genome-wide association study (GWAS). We identified 71,668 SVs, among which deletions were the most prevalent, followed by translocations, inversions, duplications, and insertions. We further identified 1286 high-frequency SVs involving 2016 protein-coding genes. Through functional enrichment analysis of these genes, we revealed associations of genetic variation at genomic positions near genes implicated in immune response and disease resistance (NFKBIZ and PTPRT), growth and development (HDAC4 and MEF2A), and milk production (TP63, FABP4, and MEF2A). GWAS analysis of 31 body conformation traits revealed 58 SVs significantly associated with five traits (chest width, rear udder width, udder depth, rump width, and heel depth) at the genome-wide level. Additionally, nine candidate genes (CLINT1, EBF1, PAM16, GRIP1, CFAP54, SLC22A16, DOK5, ETAA1, and IPMK) were identified as potentially involved in the genetic regulation of body conformation traits. These findings provide novel insights for genetic improvement strategies and indicate that precision breeding could further enhance the production performance of this breed in the future.

## Linked entities

- **Genes:** NFKBIZ (NFKB inhibitor zeta) [NCBI Gene 64332], PTPRT (protein tyrosine phosphatase receptor type T) [NCBI Gene 11122], HDAC4 (histone deacetylase 4) [NCBI Gene 9759], MEF2A (myocyte enhancer factor 2A) [NCBI Gene 4205], TP63 (tumor protein p63) [NCBI Gene 8626], FABP4 (fatty acid binding protein 4) [NCBI Gene 2167], CLINT1 (clathrin interactor 1) [NCBI Gene 9685], EBF1 (EBF transcription factor 1) [NCBI Gene 1879], PAM16 (presequence translocase associated motor 16) [NCBI Gene 51025], GRIP1 (glutamate receptor interacting protein 1) [NCBI Gene 23426], CFAP54 (cilia and flagella associated protein 54) [NCBI Gene 144535], SLC22A16 (solute carrier family 22 member 16) [NCBI Gene 85413], DOK5 (docking protein 5) [NCBI Gene 55816], ETAA1 (ETAA1 activator of ATR kinase) [NCBI Gene 54465], IPMK (inositol polyphosphate multikinase) [NCBI Gene 253430]

## Full-text entities

- **Genes:** DOK5 (docking protein 5) [NCBI Gene 530813], HDAC4 (histone deacetylase 4) [NCBI Gene 517559], SLC22A16 (solute carrier family 22 member 16) [NCBI Gene 614380], NFKBIZ (NFKB inhibitor zeta) [NCBI Gene 282713] {aka MAIL}, IPMK (inositol polyphosphate multikinase) [NCBI Gene 615135], ETAA1 (ETAA1 activator of ATR kinase) [NCBI Gene 282224] {aka ETAA16}, PTPRT (protein tyrosine phosphatase receptor type T) [NCBI Gene 524059], GRIP1 [NCBI Gene 525592], FABP4 (fatty acid binding protein 4, adipocyte) [NCBI Gene 281759], CFAP54 (cilia and flagella associated protein 54) [NCBI Gene 787705] {aka C5H12orf55, C5H12orf63}, CLINT1 (clathrin interactor 1) [NCBI Gene 538540], EBF1 (EBF transcription factor 1) [NCBI Gene 537712], MEF2A (myocyte enhancer factor 2A) [NCBI Gene 407231], TP63 (tumor protein p63) [NCBI Gene 615335], PAM16 (presequence translocase associated motor 16) [NCBI Gene 444880] {aka Magmas, TIMM16}
- **Species:** Bos taurus (bovine, species) [taxon 9913]

## Figures

6 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12154528/full.md

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Source: https://tomesphere.com/paper/PMC12154528