Abstract

Our initial RNA sequencing (RNA-seq) revealed that the Serum amyloid A1 (SAA1) gene was differentially expressed in the mammary glands of lactating Holstein cows with extremely high versus low phenotypic values of milk protein and fat percentage. To further validate the genetic effect and potential molecular mechanisms of SAA1 gene involved in regulating milk production traits in dairy cattle, we herein performed a study through genotype-phenotype associations. Six identified SNPs were significantly associated with one or more milk production traits (0.00002< P < 0.0025), providing additional evidence for the potential role of SAA1 variants in milk production traits in dairy cows. Subsequently, both luciferase assay and electrophoretic mobility shift assay (EMSA) clearly demonstrated that the allele A of g.-963C>A increased the promoter activity by binding the PARP factor while allele C did not. Bioinformatics analysis indicated that the secondary structure of SAA protein changed by the substitution A/G in the locus c. +2510A>G. Our findings were the first to reveal the significant associations of the SAA1 gene with milk production traits, providing basis for further biological function validation, and two identified SNPs, g.-963C>A and c. +2510A>G, may be considered as genetic markers for breeding in dairy cattle.

Highlights

  • The dairy industry provides milk and dairy products for the human diet and it plays a key role in agricultural economy [1,2]

  • The present study confirmed that the Serum amyloid A1 (SAA1) gene had significant association effects on milk yield and composition traits in dairy cattle

  • A total of 7 SNPs were identified in SAA1 and 6 out of them were observed to be significantly associated with milk yield and composition traits

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Summary

Introduction

The dairy industry provides milk and dairy products for the human diet and it plays a key role in agricultural economy [1,2]. As the most important economic traits, an improvement in milk production traits continues to be the most profitable breeding goal [3,4]. Classical DNA-based marker technology has expedited the genetic improvement of animal performance [5], the implementation of new strategies for investigating genes underlying complex traits could facilitate the improvement in selection accuracies. Genetic Associations and Functional Polymorphisms of SAA1 Gene data. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

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