# Polymorphism Analysis of NOTCH2 and CD1A Genes and Their Association with Wool Traits in Subo Merino Sheep

## TL;DR

This study identifies genetic variations in NOTCH2 and CD1A genes linked to wool traits in Subo Merino sheep, offering insights for breeding better wool quality.

## Contribution

The study discovers specific SNPs in NOTCH2 and CD1A genes associated with wool traits and their potential impact on protein structures.

## Key findings

- Specific SNPs in NOTCH2 are linked to fiber diameter variation and greasy fleece weight.
- CD1A SNPs are significantly associated with fiber diameter standard deviation and crimp number.
- CD1A gene is highly expressed in fine wool, suggesting a role in regulating wool quality.

## Abstract

To identify the genetic factors influencing wool quality in Subo Merino sheep, this study focused on the NOTCH2 and CD1A genes. Through genetic analysis, we detected six single nucleotide polymorphisms (SNPs) within these genes and examined their associations with key wool traits. Our results indicated that specific SNPs in NOTCH2 are closely linked to the coefficient of variation of fibre diameter and greasy fleece weight, while SNPs in CD1A are significantly associated with the standard deviation of fibre diameter and crimp number. We also found that these genetic variations may alter the secondary and tertiary structures of the proteins encoded by NOTCH2 and CD1A, potentially affecting their biological functions. Furthermore, qPCR results demonstrated that CD1A is higher expressed in fine wool, reinforcing its potential role in regulating wool quality. Overall, this research identifies promising candidate SNPs that could serve as molecular markers, providing practical guidance for breeding Subo Merino sheep with improved wool traits and enhancing our understanding of the genetic mechanisms underlying wool quality.

To identify molecular markers associated with wool traits in fine-wool sheep, we examined genetic polymorphisms in the NOTCH2 and CD1A genes in 944 Subo Merino sheep in this study. Subsequently, we performed association analyses between mutation sites in the NOTCH2 and CD1A genes and wool traits using SAS 9.4 software, followed by linkage disequilibrium (LD) analysis of different mutation sites using Haploview 4.2 software. Additionally, bioinformatics tools were employed to predict the potential impacts of missense mutations on protein secondary and tertiary structures. Finally, quantitative PCR (qPCR) was used to assess the expression levels of the NOTCH2 and CD1A genes. Genetic analysis revealed six polymorphic sites in NOTCH2 and CD1A, all of which were missense mutations. Two SNPs in NOTCH2 (SNP1 and SNP2) showed significant associations with the coefficient of variation of fibre diameter, and SNP1 was also associated with greasy fleece weight. Four SNPs in CD1A (SNP3–SNP6) were significantly associated with fibre diameter standard deviation, and SNP3, SNP4, and SNP5 were additionally associated with crimp number. LD analysis revealed that SNP3, SNP4, and SNP5 were closely linked. Bioinformatics analysis indicated that the mutations caused alterations in the secondary and tertiary structures of the NOTCH2 and CD1A proteins. qPCR results showed that the CD1A gene was highly expressed in the fine wool fibre group compared with the ultra-fine wool fibre group. In conclusion, this study revealed a genetic association between NOTCH2 and CD1A and wool traits. The results are expected to provide a theoretical foundation for breeding wool traits in Subo Merino sheep, thereby enhancing the economic value of fine wool.