Genome-wide evolutionary and functional analysis of the Equine Repetitive Element 1: an insertion in the myostatin promoter affects gene expression

BMC Genetics

Elena Giulotto¹  Solomon G. Nergadze¹  Elena Raimondi¹  Alice Mazzagatti¹  Claudia Badiale¹  Alessandra Russo²  Francesco Vella¹  Francesca M. Piras¹  Ori Klipstein¹  Margherita Bonuglia²  Riccardo Gamba¹  Lela Khoriauli¹  Marco Santagostino¹ 

[1] Dipartimento di Biologia e Biotecnologie “Lazzaro Spallanzani”, Università di Pavia, Via Ferrata 1, Pavia, 27100, Italy;Laboratorio di Genetica Forense Veterinaria, UNIRELAB srl, Via A. Gramsci 70, Settimo Milanese (MI), 20019, Italy

关键词: Myostatin gene expression;    Equids;    SINEs;    Horse genome;   

Others  :  1229693
DOI  :  10.1186/s12863-015-0281-1

 received in 2015-08-04, accepted in 2015-10-13,  发布年份 2015

【 摘 要 】

Background

In mammals, an important source of genomic variation is insertion polymorphism of retrotransposons. These may acquire a functional role when inserted inside genes or in their proximity. The aim of this work was to carry out a genome wide analysis of ERE1 retrotransposons in the horse and to analyze insertion polymorphism in relation to evolution and function. The effect of an ERE1 insertion in the promoter of the myostatin gene, which is involved in muscle development, was also investigated.

Results

In the horse population, the fraction of ERE1 polymorphic loci is related to the degree of similarity to their consensus sequence. Through the analysis of ERE1 conservation in seven equid species, we established that the level of identity to their consensus is indicative of evolutionary age of insertion. The position of ERE1s relative to genes suggests that some elements have acquired a functional role. Reporter gene assays showed that the ERE1 insertion within the horse myostatin promoter affects gene expression. The frequency of this variant promoter correlates with sport aptitude and racing performance.

Conclusions

Sequence conservation and insertion polymorphism of ERE1 elements are related to the time of their appearance in the horse lineage, therefore, ERE1s are a useful tool for evolutionary and population studies. Our results suggest that the ERE1 insertion at the myostatin locus has been unwittingly selected by breeders to obtain horses with specific racing abilities. Although a complex combination of environmental and genetic factors contributes to athletic performance, breeding schemes may take into account ERE1 insertion polymorphism at the myostatin promoter.

【 授权许可】

   
2015 Santagostino et al.

【 图 表 】

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