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

Overview of attention for article published in BMC Genomic Data, October 2015
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Title
Genome-wide evolutionary and functional analysis of the Equine Repetitive Element 1: an insertion in the myostatin promoter affects gene expression
Published in
BMC Genomic Data, October 2015
DOI 10.1186/s12863-015-0281-1
Pubmed ID
Authors

Marco Santagostino, Lela Khoriauli, Riccardo Gamba, Margherita Bonuglia, Ori Klipstein, Francesca M. Piras, Francesco Vella, Alessandra Russo, Claudia Badiale, Alice Mazzagatti, Elena Raimondi, Solomon G. Nergadze, Elena Giulotto

Abstract

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. 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. 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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 37 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 3%
Belgium 1 3%
Unknown 35 95%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 9 24%
Researcher 6 16%
Student > Ph. D. Student 6 16%
Student > Master 4 11%
Other 2 5%
Other 5 14%
Unknown 5 14%
Readers by discipline Count As %
Agricultural and Biological Sciences 14 38%
Biochemistry, Genetics and Molecular Biology 9 24%
Veterinary Science and Veterinary Medicine 2 5%
Medicine and Dentistry 2 5%
Sports and Recreations 2 5%
Other 2 5%
Unknown 6 16%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 October 2015.
All research outputs
#20,656,161
of 25,373,627 outputs
Outputs from BMC Genomic Data
#861
of 1,204 outputs
Outputs of similar age
#216,271
of 295,173 outputs
Outputs of similar age from BMC Genomic Data
#20
of 28 outputs
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