Deep intronic mutation and pseudo exon activation as a novel muscular hypertrophy modifier in cattle

Myostatin is essential for proper regulation of myogenesis, and inactivation of Myostatin results in muscle hypertrophy. Here, we identified an unexpected mutation in the myostatin gene which is almost fixed in Blonde d'Aquitaine cattle. In skeletal muscle, the mutant allele was highly expresse...

Full description

Saved in:
Bibliographic Details
Published in:PloS one 2014-05, Vol.9 (5), p.e97399-e97399
Main Authors: Bouyer, Claire, Forestier, Lionel, Renand, Gilles, Oulmouden, Ahmad
Format: Article
Language:English
Subjects:
Alleles
Animals
Beef cattle
Biology and Life Sciences
Bovidae
Cattle
Cattle - genetics
Codons
Deactivation
Exons - genetics
Gene expression
Gene mutation
Genetic aspects
Genetic counseling
Genetic Counseling - methods
Genetic screening
Genotype & phenotype
Hypertrophy
Hypertrophy - genetics
Inactivation
Introns - genetics
Life Sciences
Livestock
Livestock - genetics
Livestock production
Meat
Muscle, Skeletal - pathology
Muscles
Muscular Diseases - genetics
Musculoskeletal system
Mutation
Mutation - genetics
Myogenesis
Myostatin
Proteins
RNA
RNA Precursors - genetics
Skeletal muscle
Transcription
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Myostatin is essential for proper regulation of myogenesis, and inactivation of Myostatin results in muscle hypertrophy. Here, we identified an unexpected mutation in the myostatin gene which is almost fixed in Blonde d'Aquitaine cattle. In skeletal muscle, the mutant allele was highly expressed leading to an abnormal transcript consisting of a 41-bp inclusion and premature termination codons and to residual levels of a correctly spliced transcript. This expression pattern, caused by a leaky intronic mutation with regard to spliceosome activity and its apparent stability with regard to surveillance mechanisms, could contribute to the moderate muscle hypertrophy in this cattle breed. This finding is of importance for genetic counseling for meat quantity and quality in livestock production and possibly to manipulate myostatin pre-mRNA in human muscle diseases.
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0097399