Journal Article

Double muscling in cattle due to mutations in the myostatin gene

Lee, S.J, McPherron, A.C

1997

Overview

Myostatin (GDF-8) is a member of the transforming growth factor β superfamily of secreted growth and differentiation factors that is essential for proper regulation of skeletal muscle mass in mice. Here we report the myostatin sequences of nine other vertebrate species and the identification of mutations in the coding sequence of bovine myostatin in two breeds of double-muscled cattle, Belgian Blue and Piedmontese, which are known to have an increase in muscle mass relative to conventional cattle. The Belgian Blue myostatin sequence contains an 11-nucleotide deletion in the third exon which causes a frameshift that eliminates virtually all of the mature, active region of the molecule. The Piedmontese myostatin sequence contains a missense mutation in exon 3, resulting in a substitution of tyrosine for an invariant cysteine in the mature region of the protein. The similarity in phenotypes of double-muscled cattle and myostatin null mice suggests that myostatin performs the same biological function in these two species and is a potentially useful target for genetic manipulation in other farm animals.

• Publisher: National Academy of Sciences of the United States of America,National Acad Sciences,National Academy of Sciences,The National Academy of Sciences of the USA
• Subject: ADN / Amino Acid Sequence / AMINO ACID SEQUENCES / Amino acids / anatomy & histology / Animals / BELGIAN BLUE / BIOLOGICAL DIFFERENCES / Biological Sciences / BOVIN / BREEDS (ANIMALS) / CATTLE / CHEMICAL COMPOSITION / Cloning, Molecular / COMPLEMENTARY DNA / COMPOSICION QUIMICA / COMPOSITION CHIMIQUE / DELETIONS / DIFERENCIAS BIOLOGICAS / DIFFERENCE BIOLOGIQUE / DNA / Double muscling / EXONS / FACTEUR DE CROISSANCE TRANSFORMANT / FACTOR DE CRECIMIENTO TRANSFORMANTE / FENOTIPOS / Frameshift Mutation / GANADO BOVINO / GENBANK/AF019619 / GENBANK/AF019620 / GENBANK/AF019621 / GENBANK/AF019622 / GENBANK/AF019623 / GENBANK/AF019624 / GENBANK/AF019625 / GENBANK/AF019626 / GENBANK/AF019627 / GENE / GENES / Genetic mutation / Genetics / interspecific variation / Mice / MOLECULAR SEQUENCE DATA / Muscle, Skeletal / Muscle, Skeletal - anatomy & histology / Muscles / Muscular system / MUSCULOSKELETAL SYSTEM / MUTACION / MUTANT / MUTANTES / MUTANTS / MUTATION / Myostatin / NUCLEOTIDE SEQUENCE / Nucleotides / Organ Size / Organ Size - genetics / PHENOTYPE / PHENOTYPES / PIEDMONTESE / RACE (ANIMAL) / RAZAS (ANIMALES) / SECUENCIA NUCLEOTIDICA / Sequence Alignment / Sequence Analysis / SEQUENCE NUCLEOTIDIQUE / Sheep / SISTEMA OSEOMUSCULAR / SPECIES DIFFERENCES / Species Specificity / SQUELETTE ET MUSCULATURE / TRANSFORMING GROWTH FACTOR / Transforming Growth Factor beta / Transforming Growth Factor beta - genetics / transforming growth factors / Ungulates / VERTEBRADOS / VERTEBRATES / VERTEBRE