Premium
A frameshift mutation in the coding region of the myostatin gene ( MSTN ) affects carcass conformation and fatness in Norwegian White Sheep ( Ovis aries )
Author(s) -
Boman I. A.,
Klemetsdal G.,
Blichfeldt T.,
Nafstad O.,
Våge D. I.
Publication year - 2009
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/j.1365-2052.2009.01855.x
Subject(s) - biology , frameshift mutation , norwegian , genetics , ovis , white (mutation) , gene , coding region , myostatin , mutation , ecology , linguistics , philosophy
Summary Mutations in the coding region of the myostatin gene ( MSTN ) are known to cause an increased muscle mass (IMM) phenotype in several mammals, including mice, dogs, cattle and humans. In sheep, a mutation in the 3′‐UTR region introducing a microRNA target site has been reported to cause an IMM‐like phenotype because of downregulation of translation. Here we report a novel single base deletion in the coding region of the myostatin gene causing an IMM phenotype in Norwegian White Sheep, characterized by a high carcass conformation class and low fat class (EUROP classification system). The deletion disrupts the reading frame from amino acid (aa) position 320, ending in a premature stop codon in aa position 359. In our material, these MSTN mutations segregated in a pattern showing that they reside in two different haplotypes. The phenotypic effect of the single base deletion is more profound than that of the 3′‐UTR mutation.