Refining the Camelus dromedarius Myostatin Gene Polymorphism through Worldwide Whole-Genome Sequencing

作者：Silvia Bruno, Vincenzo Landi, Gabriele Senczuk, Samantha A. Brooks, Faisal Almathen, Bernard Faye, Suheil Semir Bechir Gaouar, Mohammed Piro, Kwan‐Suk Kim, Xavier David, Andre A. Eggen, Pamela A. Burger, Elena Ciani · 发表于：Animals · 年份：2022 · DOI：10.3390/ani12162068 · 被引用次数：9 · 研究领域：Muscle Physiology and Disorders、Animal Genetics and Reproduction、Muscle metabolism and nutrition

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 i...