Scholarlink

<p>Myostatin (MSTN) is a well-established negative regulator of muscle growth and development in mammals. Genetic variations within <i>MSTN</i> are linked to differences in sheep musculature, particularly the double-muscle phenotype. This study represents the first comprehensive polymorphism analysis within intron 1 of the&#xa0;<i>MSTN</i> in the Ukrainian Carpathian Mountain (UCM) sheep breed combining molecular and bioinformatic approaches. Sequencing data of samples from UCM sheep revealed eight previously reported single-nucleotide polymorphisms (c.373+241T&gt;C, c.373+243G&gt;A, c.373+246T&gt;C, c.373+249T&gt;C, c.373+259G&gt;T, c.373+323C&gt;T, c.373+563G&gt;A, c.373+607G&gt;A) and one novel polymorphism (c.373+283T&gt;C). Bioinformatic analysis evaluated potential functional effects of these intronic polymorphisms, including changes in pre-mRNA stability, proximity to transcription factor binding sites, and possible pre-miRNA formation, using in silico approaches, including molecular dynamics simulations of predicted pre-miRNA structures. Predictions identified c.373+607G&gt;A and the novel c.373+283T&gt;C polymorphisms as potential candidates for further functional investigation and association studies. This study demonstrates the value of combining molecular genetic and bioinformatic approaches for characterizing intronic polymorphisms and supporting a deeper understanding of functional genetic variation in livestock.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Identification and bioinformatic functional analysis of novel and known polymorphisms in the myostatin gene of Ukrainian Carpathian Mountain sheep

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月23日

查看全文
  • Tetyana Buslyk,
  • Mykyta Peka,
  • Artem Saienko,
  • Mariia Kozak,
  • Marian Yuzviak,
  • Yuriy Salyha,
  • Petro Stapay,
  • Ilva Trapina,
  • Natalia Paramonova

摘要

Myostatin (MSTN) is a well-established negative regulator of muscle growth and development in mammals. Genetic variations within MSTN are linked to differences in sheep musculature, particularly the double-muscle phenotype. This study represents the first comprehensive polymorphism analysis within intron 1 of the MSTN in the Ukrainian Carpathian Mountain (UCM) sheep breed combining molecular and bioinformatic approaches. Sequencing data of samples from UCM sheep revealed eight previously reported single-nucleotide polymorphisms (c.373+241T>C, c.373+243G>A, c.373+246T>C, c.373+249T>C, c.373+259G>T, c.373+323C>T, c.373+563G>A, c.373+607G>A) and one novel polymorphism (c.373+283T>C). Bioinformatic analysis evaluated potential functional effects of these intronic polymorphisms, including changes in pre-mRNA stability, proximity to transcription factor binding sites, and possible pre-miRNA formation, using in silico approaches, including molecular dynamics simulations of predicted pre-miRNA structures. Predictions identified c.373+607G>A and the novel c.373+283T>C polymorphisms as potential candidates for further functional investigation and association studies. This study demonstrates the value of combining molecular genetic and bioinformatic approaches for characterizing intronic polymorphisms and supporting a deeper understanding of functional genetic variation in livestock.