Impacts of the Callipyge Mutation on Ovine Plasma Metabolites and Muscle Fibre Type
نویسندگان
چکیده
The ovine Callipyge mutation causes postnatal muscle hypertrophy localized to the pelvic limbs and torso, as well as body leanness. The mechanism underpinning enhanced muscle mass is unclear, as is the systemic impact of the mutation. Using muscle fibre typing immunohistochemistry, we confirmed muscle specific effects and demonstrated that affected muscles had greater prevalence and hypertrophy of type 2X fast twitch glycolytic fibres and decreased representation of types 1, 2C, 2A and/or 2AX fibres. To investigate potential systemic effects of the mutation, proton NMR spectra of plasma taken from lambs at 8 and 12 weeks of age were measured. Multivariate statistical analysis of plasma metabolite profiles demonstrated effects of development and genotype but not gender. Plasma from Callipyge lambs at 12 weeks of age, but not 8 weeks, was characterized by a metabolic profile consistent with contributions from the affected hypertrophic fast twitch glycolytic muscle fibres. Microarray analysis of the perirenal adipose tissue depot did not reveal a transcriptional effect of the mutation in this tissue. We conclude that there is an indirect systemic effect of the Callipyge mutation in skeletal muscle in the form of changes of blood metabolites, which may contribute to secondary phenotypes such as body leanness.
منابع مشابه
Identification of a gene network contributing to hypertrophy in callipyge skeletal muscle.
The callipyge mutation in sheep results in postnatal skeletal muscle hypertrophy in the pelvic limbs and loins with little or no effect on anterior skeletal muscles. Associated with the phenotype are changes in the expression of a number of imprinted genes flanking the site of the mutation, which lies in an intergenic region at the telomeric end of ovine chromosome 18. The manner in which these...
متن کاملPolar Overdominance at the Ovine Callipyge Locus Supports Trans Interaction between the Products of Reciprocally Imprinted Genes
SYMMARY The callipyge phenotype in sheep is an inherited muscular hypertrophy affecting only heterozygous individuals receiving the CLPG mutation from their father. The CLPG mutation has been identified as a single nucleotide substitution in what is likely a long-range control element (LRCE) within the DLK1-GTL2 imprinted domain. Recent results suggest that the unique mode of inheritance of cal...
متن کاملIdentification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals.
A small genetic region near the telomere of ovine chromosome 18 was previously shown to carry the mutation causing the callipyge muscle hypertrophy phenotype in sheep. Expression of this phenotype is the only known case in mammals of paternal polar overdominance gene action. A region surrounding two positional candidate genes was sequenced in animals of known genotype. Mutation detection focuse...
متن کاملEctopic Expression of Retrotransposon-Derived PEG11/RTL1 Contributes to the Callipyge Muscular Hypertrophy
The callipyge phenotype is an ovine muscular hypertrophy characterized by polar overdominance: only heterozygous +Mat/CLPGPat animals receiving the CLPG mutation from their father express the phenotype. +Mat/CLPGPat animals are characterized by postnatal, ectopic expression of Delta-like 1 homologue (DLK1) and Paternally expressed gene 11/Retrotransposon-like 1 (PEG11/RTL1) proteins in skeletal...
متن کاملToward molecular understanding of polar overdominance at the ovine callipyge locus.
callipyge phenotype (Gk calli-beautiful +-pyge buttocks) is a generalized muscular hypertrophy described in sheep. It is due to an increase in the size and proportion of fast twitch muscle fibers. It manifests itself only after birth at ~1 month of age. It exhibits a rostro-caudal gradient being more pronounced in the muscle of the pelvic limb and torso, hence its name. It is accompanied by a d...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 9 شماره
صفحات -
تاریخ انتشار 2014