Genomic imprinting and genetic effects on muscle traits in mice

Kärst, Stefan; Vahdati, Ali R.; Brockmann, Gudrun A.; Hager, Reinmar

doi:10.1186/1471-2164-13-408

Cited by 9 publications

(8 citation statements)

References 45 publications

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“…Recently, we have identified bidirectional parent-of-origin effects for muscle glycogen content and glycolytic potential as well as body weight in a population between two other hypermuscular mouse lines BFMI806 × BMMI816 [47]. The imprinted loci were not discovered by a genome-wide QTL search directly for additive and dominance effects.…”

Section: Resultsmentioning

confidence: 99%

Effect of the myostatin locus on muscle mass and intramuscular fat content in a cross between mouse lines selected for hypermuscularity

et al. 2013

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BackgroundThis study is aimed at the analysis of genetic and physiological effects of myostatin on economically relevant meat quality traits in a genetic background of high muscularity. For this purpose, we generated G3 populations of reciprocal crosses between the two hypermuscular mouse lines BMMI866, which carries a myostatin mutation and is lean, and BMMI806, which has high intramuscular and body fat content. To assess the relationship between muscle mass, body composition and muscle quality traits, we also analysed intramuscular fat content (IMF), water holding capacity (WHC), and additional physiological parameters in M. quadriceps and M. longissimus in 308 G3-animals.ResultsWe found that individuals with larger muscles have significantly lower total body fat (r = −0.28) and IMF (r = −0.64), and in females, a lower WHC (r = −0.35). In males, higher muscle mass was also significantly correlated with higher glycogen contents (r = 0.2) and lower carcass pH-values 24 hours after dissection (r = −0.19). Linkage analyses confirmed the influence of the myostatin mutation on higher lean mass (1.35 g), reduced body fat content (−1.15%), and lower IMF in M. longissimus (−0.13%) and M. quadriceps (−0.07%). No effect was found for WHC. A large proportion of variation of intramuscular fat content of the M. longissimus at the myostatin locus could be explained by sex (23%) and direction-of-cross effects (26%). The effects were higher in males (+0.41%). An additional locus with negative over-dominance effects on total fat mass (−0.55 g) was identified on chromosome 16 at 94 Mb (86–94 Mb) which concurs with fat related QTL in syntenic regions on SSC13 in pigs and BTA1 in cattle.ConclusionThe data shows QTL effects on mouse muscle that are similar to those previously observed in livestock, supporting the mouse model. New information from the mouse model helps to describe variation in meat quantity and quality, and thus contribute to research in livestock.

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Section: Resultsmentioning

confidence: 99%

Effect of the myostatin locus on muscle mass and intramuscular fat content in a cross between mouse lines selected for hypermuscularity

et al. 2013

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“…Imprinted QTL have also been identified on mouse chromosome 8 for a mature body mass trait [ 42 ]. In addition, there was evidence to support the possibility that some imprinted genomic regions on mouse chromosomes 3, 4, 5, 6, 7, 12, 18 and 19 had effects on adult body composition and muscle traits [ 43 - 45 ]. Based on these previous mapping results, chromosomes 10 and 11 have not been previously shown to harbor QTL that influence body length traits.…”

Section: Discussionmentioning

confidence: 99%

Body composition and gene expression QTL mapping in mice reveals imprinting and interaction effects

Cheng

Rachagani

Cánovas³

et al. 2013

BMC Genet

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BackgroundShifts in body composition, such as accumulation of body fat, can be a symptom of many chronic human diseases; hence, efforts have been made to investigate the genetic mechanisms that underlie body composition. For example, a few quantitative trait loci (QTL) have been discovered using genome-wide association studies, which will eventually lead to the discovery of causal mutations that are associated with tissue traits. Although some body composition QTL have been identified in mice, limited research has been focused on the imprinting and interaction effects that are involved in these traits. Previously, we found that Myostatin genotype, reciprocal cross, and sex interacted with numerous chromosomal regions to affect growth traits.ResultsHere, we report on the identification of muscle, adipose, and morphometric phenotypic QTL (pQTL), translation and transcription QTL (tQTL) and expression QTL (eQTL) by applying a QTL model with additive, dominance, imprinting, and interaction effects. Using an F2 population of 1000 mice derived from the Myostatin-null C57BL/6 and M16i mouse lines, six imprinted pQTL were discovered on chromosomes 6, 9, 10, 11, and 18. We also identified two IGF1 and two Atp2a2 eQTL, which could be important trans-regulatory elements. pQTL, tQTL and eQTL that interacted with Myostatin, reciprocal cross, and sex were detected as well. Combining with the additive and dominance effect, these variants accounted for a large amount of phenotypic variation in this study.ConclusionsOur study indicates that both imprinting and interaction effects are important components of the genetic model of body composition traits. Furthermore, the integration of eQTL and traditional QTL mapping may help to explain more phenotypic variation than either alone, thereby uncovering more molecular details of how tissue traits are regulated.

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“…We will focus on the calculation of the power and false-positive rates of detecting the imprinting effect from the model. The count data in 2 Â 2 contingency table (5) were simulated by assuming different ORs. The OR describes and quantifies the extent to which the two variables are related.…”

Section: Simulationmentioning

confidence: 99%

“…Genetic imprinting arises from a gene when either its maternally or paternally derived copy is expressed while the other copy is silenced [1]. As a consequence of epigenetic marks due to differential DNA methylation during gametogenesis, genetic imprinting has been found to play a pivotal role in regulating the formation, development, function and evolution of complex traits and diseases [2][3][4][5]. Tremendous efforts have been made to study the epigenetic and molecular mechanisms of this phenomenon [6], but the number and distribution of imprinted genes and their epistatic interactions are poorly understood, thereby limiting our ability to estimate the effects of imprinting genes on complex traits or diseases.…”

Section: Introductionmentioning

confidence: 99%

A model for family-based case-control studies of genetic imprinting and epistasis

Li¹,

Sui²,

Liu³

et al. 2013

Briefings in Bioinformatics

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Genetic imprinting, or called the parent-of-origin effect, has been recognized to play an important role in the formation and pathogenesis of human diseases. Although the epigenetic mechanisms that establish genetic imprinting have been a focus of many genetic studies, our knowledge about the number of imprinting genes and their chromosomal locations and interactions with other genes is still scarce, limiting precise inference of the genetic architecture of complex diseases. In this article, we present a statistical model for testing and estimating the effects of genetic imprinting on complex diseases using a commonly used case-control design with family structure. For each subject sampled from a case and control population, we not only genotype its own single nucleotide polymorphisms (SNPs) but also collect its parents' genotypes. By tracing the transmission pattern of SNP alleles from parental to offspring generation, the model allows the characterization of genetic imprinting effects based on Pearson tests of a 2 × 2 contingency table. The model is expanded to test the interactions between imprinting effects and additive, dominant and epistatic effects in a complex web of genetic interactions. Statistical properties of the model are investigated, and its practical usefulness is validated by a real data analysis. The model will provide a useful tool for genome-wide association studies aimed to elucidate the picture of genetic control over complex human diseases.

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Genomic imprinting and genetic effects on muscle traits in mice

Cited by 9 publications

References 45 publications

Effect of the myostatin locus on muscle mass and intramuscular fat content in a cross between mouse lines selected for hypermuscularity

Effect of the myostatin locus on muscle mass and intramuscular fat content in a cross between mouse lines selected for hypermuscularity

Body composition and gene expression QTL mapping in mice reveals imprinting and interaction effects

A model for family-based case-control studies of genetic imprinting and epistasis

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