https://phaidra.vetmeduni.ac.at/o:2046 Refining the Camelus dromedarius Myostatin Gene Polymorphism through Worldwide Whole-Genome Sequencing Bruno, Silvia Silvia Bruno University of Bari "Aldo Moro" Ciani, Elena Elena Ciani 0000-0001-5673-0975 University of Bari "Aldo Moro" Burger, Pamela Pamela Burger 0000-0002-6941-0257 University of Veterinary Medicine Vienna Eggen, André André Eggen Illumina David, Xavier Xavier David Illumina Kim, Kwan Suk Kwan Suk Kim 0000-0002-5895-4398 Chungbuk National University Piro, Mohammed Mohammed Piro Institut Agronomique et Vétérinaire Hassan II Gaouar, Suheil Semir Bechir Suheil Semir Bechir Gaouar Abou Bakr Belkaid University of Tlemcen Faye, Bernard Bernard Faye 0000-0002-5762-5453 Almathen, Faisal Faisal Almathen King Faisal University Brooks, Samantha Ann Samantha Ann Brooks 0000-0002-4500-2689 University of Florida Landi, Vincenzo Vincenzo Landi 0000-0003-1385-8439 University of Bari "Aldo Moro" Senczuk, Gabriele Gabriele Senczuk 0000-0001-8889-2290 University of Molise MDPI text eng 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. Enhancer-Binding Factor; Tgf-Beta Superfamily; Meat Quality; Muscle Mass; Expression; Mutation; Performance; Growth; Roles; Cells http://creativecommons.org/licenses/by/4.0/ https://phaidra.vetmeduni.ac.at/api/object/o:2046/download 10.3390/ani12162068 https://phaidra.vetmeduni.ac.at/o:605 application/pdf Animals 12(16) (2022) Animals 12 16 923.52 kB 2022