Refining the Camelus dromedarius myostatin gene polymorphism through worldwide whole-genome sequencing

Bruno Silvia, Landi Vincenzo, Senczuk Gabriele, Brooks Samantha Ann, Almathen Faisal, Faye Bernard, Gaouar Suheil Semir Bechir, Piro Mohammed, Kim Kwan Suk, David Xavier, Eggen André, Burger Pamela A., Ciani Elena. 2022. Refining the Camelus dromedarius myostatin gene polymorphism through worldwide whole-genome sequencing. Animals, 12 (16):2068, 12 p.

https://doi.org/10.3390/ani12162068

Article de revue ; Article de recherche ; Article de revue à facteur d'impact Revue en libre accès total

Prévisualisation

Version publiée - Anglais
Sous licence

.
Faye_animals-12-02068.pdf
Télécharger (668kB) | Prévisualisation

Url - jeu de données - Entrepôt autre : https://www.ebi.ac.uk/eva/?eva-study=PRJEB55295

Résumé : Myostatin (MSTN) is a highly conserved negative regulator of skeletal muscle in mammals. Inactivating mutations results in a hyper-muscularity phenotype known as “double muscling” in several livestock and model species. In Camelus dromedarius, the gene structure organization and the sequence polymorphisms have been previously investigated, using Sanger and Next-Generation Sequencing technologies on a limited number of animals. Here, we carried out a follow-up study with the aim to further expand our knowledge about the sequence polymorphisms at the myostatin locus, through the whole-genome sequencing data of 183 samples representative of the geographical distribution range for this species. We focused our polymorphism analysis on the ±5 kb upstream and downstream region of the MSTN gene. A total of 99 variants (77 Single Nucleotide Polymorphisms and 22 indels) were observed. These were mainly located in intergenic and intronic regions, with only six synonymous Single Nucleotide Polymorphisms in exons. A sequence comparative analysis among the three species within the Camelus genus confirmed the expected higher genetic distance of C. dromedarius from the wild and domestic two-humped camels compared to the genetic distance between C. bactrianus and C. ferus. In silico functional prediction highlighted: (i) 213 differential putative transcription factor-binding sites, out of which 41 relative to transcription factors, with known literature evidence supporting their involvement in muscle metabolism and/or muscle development; and (ii) a number of variants potentially disrupting the canonical MSTN splicing elements, out of which two are discussed here for their potential ability to generate a prematurely truncated (inactive) form of the protein. The distribution of the considered variants in the studied cohort is discussed in light of the peculiar evolutionary history of this species and the hypothesis that extremely high muscularity, associated with a homozygous condition for mutated (inactivating) alleles at the myostatin locus, may represent, in arid desert conditions, a clear metabolic disadvantage, emphasizing the thermoregulatory and water availability challenges typical of these habitats.

Mots-clés Agrovoc : génétique animale, polymorphisme génétique, dromadaire, génome, polymorphisme à nucléotide unique

Mots-clés complémentaires : myostatine, Séquencage

Mots-clés libres : Myostatin, Dromedary, Single nucleotide polymorphisms, INDELs

Classification Agris : L10 - Génétique et amélioration des animaux
L40 - Anatomie et morphologie des animaux

Champ stratégique Cirad : CTS 2 (2019-) - Transitions agroécologiques

Agences de financement hors UE : Illumina

Auteurs et affiliations