Laboratory of Livestock Physiology, Immunology and Genetics, Department of Biosystems, KULeuven, 3001 Leuven, Belgium.
Anim Genet. 2011 Jun;42(3):229-34. doi: 10.1111/j.1365-2052.2010.02144.x. Epub 2010 Dec 22.
The transforming growth factor β (TGF-β) superfamily encodes secreted factors that are important in regulating embryonic development and tissue homeostatis in adults. Myostatin (MSTN, encoded by MSTN) or 'growth and differentiation factor 8', a member of this superfamily, is a negative regulator of skeletal muscle growth and is highly conserved among animal species. In 1997, a mutation associated with the so-called double-muscling phenotype in cattle was found in the MSTN gene. During the years following the discovery of the first MSTN mutation, other mutations were found in cattle and other mammalian species, and MSTN became one of the most thoroughly studied genes in animals. The aim of this review is mainly to describe the functional mutations located in the MSTN genes of several mammalian species, leading to double muscling in these animals. Furthermore, in light of the increasing importance of fish genetics, the possibility of functional mutations in piscine MSTN with a similar effect as in mammals, and a genetic model for MSTN research in fish, will also be discussed.
转化生长因子 β (TGF-β) 超家族编码的分泌因子在调节胚胎发育和成人组织稳态方面非常重要。肌肉生长抑制素 (MSTN，由 MSTN 编码) 或“生长分化因子 8”，是该超家族的一个成员，是骨骼肌生长的负调节剂，在动物物种中高度保守。1997 年，在 MSTN 基因中发现了与牛所谓的双肌性状相关的突变。在发现第一个 MSTN 突变后的几年里，在牛和其他哺乳动物物种中发现了其他突变，MSTN 成为动物中研究最彻底的基因之一。本综述的主要目的是描述导致这些动物出现双肌的几种哺乳动物 MSTN 基因中的功能突变。此外，鉴于鱼类遗传学的重要性日益增加，也将讨论在鱼类 MSTN 中具有类似作用的功能突变，以及鱼类 MSTN 研究的遗传模型。
