Stegemiller Morgan R, Highland Margaret A, Ewert Kathleen M, Neaton Holly, Biller David S, Murdoch Brenda M
Department of Animal, Veterinary and Food Science, University of Idaho, Moscow, ID 83844, USA.
WI Veterinary Diagnostic Laboratory, University of Wisconsin-Madison, Madison, WI 54812, USA.
Genes (Basel). 2025 Jan 14;16(1):83. doi: 10.3390/genes16010083.
Lamb health is crucial for producers; however, the percentage of lambs that die before weaning is still 15-20%. One factor that can contribute to lamb deaths is congenital diseases. A novel semi-lethal disease has been identified in newborn Polypay lambs and termed dozer lamb syndrome. This study aims to determine if there is a genetic predisposition to dozer lamb syndrome. These lambs are weak and unable to lift their heads, suckle, and swallow, resulting in nasal reflux.
Genetic analyses, including a genome-wide association, runs of homozygosity, and fine mapping to determine haploblock within regions of interest, were utilized in determining genetic predispositions to dozer lamb syndrome.
The genome-wide association study identified a region of chromosome 15 with three significant SNPs (-values of 6.81 × 10, 5.71 × 10, and 8.52 × 10). Genetic analysis identified a run of homozygosity on the same region of chromosome 15 with an odds ratio of 236.7. Fine mapping of this region identified three haploblocks associated with the dozer lamb syndrome (-value = 2.41 × 10).
The most significant and promising gene in this region is , which is known to play an important role in muscle development. Abnormal CELF1 abundance and cellular location are reported to result in abnormal muscle development. Identification of genetic aberrations associated with dozer lamb syndrome provides a tool for decreasing or eliminating the genotype and, thus, the associated phenotype(s) from Polypay sheep.
羔羊健康对生产者至关重要；然而，断奶前死亡的羔羊比例仍为15%-20%。导致羔羊死亡的一个因素是先天性疾病。在新生的波利派公羊中发现了一种新型半致死性疾病，称为推土机羔羊综合征。本研究旨在确定推土机羔羊综合征是否存在遗传易感性。这些羔羊体弱，无法抬头、吮乳和吞咽，导致鼻腔反流。
利用基因分析，包括全基因组关联分析、纯合子连续区域分析以及在感兴趣区域内确定单倍体块的精细定位，来确定推土机羔羊综合征的遗传易感性。
全基因组关联研究在15号染色体上确定了一个区域，有三个显著的单核苷酸多态性（-值分别为6.81×10、5.71×10和8.52×10）。遗传分析在15号染色体的同一区域确定了一段纯合子连续区域，优势比为236.7。对该区域的精细定位确定了与推土机羔羊综合征相关的三个单倍体块（-值=2.41×10）。
该区域最重要且最有前景的基因是 ，已知其在肌肉发育中起重要作用。据报道，CELF1丰度和细胞定位异常会导致肌肉发育异常。鉴定与推土机羔羊综合征相关的基因畸变提供了一种工具，可用于减少或消除波利派绵羊的该基因型以及相关表型。
