Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype

Smit, Maria A.; Segers, Karin; Carrascosa, Laura G.; Shay, T. L.; Baraldi, F.; Gyapay, Gábor; Snowder, G. D.; Georges, Michel; Cockett, Noelle E.; Charlier, Carole

doi:10.1093/genetics/163.1.453

Cited by 94 publications

(13 citation statements)

References 8 publications

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“…The mutation has not altered the imprinting status of these genes, but their expression in the hypertrophy responsive muscles has changed in a manner that is generally consistent with the parent-of-origin-specific inheritance of the mutation on the maternal or paternal chromosome (cis effect) (Charlier et al, 2001a(Charlier et al, , 2001b. The callipyge mutation occurs in a 12-bp motif that was identical in 13 mammalian species with the exception of descendants of Solid Gold (Smit et al, 2003). The cis effect of the callipyge allele affects both genes and bidirectional intergenic transcription across approximately 300 kb of the chromosome, and therefore, the sequence surrounding the mutation was considered to be a long-range control element {Charlier, 2001 #55; Takeda, 2006 #410}.…”

Section: Epigenetic Changes At the Site Of The Callipyge Mutationmentioning

confidence: 70%

“…A single base change of an A (wild-type allele: +) to a G (callipyge allele: C) in the intergenic region between DLK1 and Maternal Expressed Gene 3 (MEG3) has been shown to be 100% concordant with all animals of the +/C P genotype and unique to direct descendants of the founder ram "Solid Gold" . Solid Gold was found to be mosaic for the mutation (Smit et al, 2003), providing strong evidence that the single-nucleotide polymorphism is the causative mutation. Preliminary expression analysis found an ncRNA (CLPG1) that spans the region containing the single-nucleotide polymorphism in neonatal longissimus dorsi RNA .…”

Section: The Callipyge Mutationmentioning

confidence: 99%

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Sheep as an Experimental Model for Human ART: Novel Insights on Phenotypic Alterations in ART‐Derived Sheep Conceptuses

Loi

D’Agostino

Czernik

et al. 2011

Livestock Epigenetics

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For those organizations that have been granted a photocopy license by CCC, a separate system of payments has been arranged. The fee codes for users of the Transactional Reporting Service are ISBN-13: 978-0-4709-5859-9/2012. Designations used by companies to distinguish their products are often claimed as trademarks. All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners. The publisher is not associated with any product or vendor mentioned in this book. This publication is designed to provide accurate and authoritative information in regard to the subject matter covered. It is sold on the understanding that the publisher is not engaged in rendering professional services. If professional advice or other expert assistance is required, the services of a competent professional should be sought.

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Section: Epigenetic Changes At the Site Of The Callipyge Mutationmentioning

confidence: 70%

Section: The Callipyge Mutationmentioning

confidence: 99%

Sheep as an Experimental Model for Human ART: Novel Insights on Phenotypic Alterations in ART‐Derived Sheep Conceptuses

Loi

D’Agostino

Czernik

et al. 2011

Livestock Epigenetics

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“…Imprinted genes which show parent-of-origin expression manner have been detected in mammals, plants and insects (Ferguson-Smith, 2011). The most famous imprinted genes in livestock are the callipyge mutation in sheep (Smit et al, 2003) and the IGF2 gene in pigs (Jeon et al, 1999). In livestock, for the first time, de Vries et al (1994) studied the contribution of parent-of-origin effects to carcass and growth traits in pigs.…”

Section: Introductionmentioning

confidence: 99%

Parental imprinting effects on growth traits and Kleiber ratio in sheep

et al. 2022

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The goal was to study imprinting effects on birth weight (BW), weaning weight (WW), six months weight (W6), pre- and post-weaning growth rate (GRa and GRb), and pre- and post-weaning Kleiber ratio (KRa and KRb) in Baluchi and Makuie sheep breeds. Analyses were done in a two steps process. In the first step, each trait was analysed with a series of 12 univariate animal models, including different combinations of direct and maternal effects and the best model was selected by the AIC criterion. In the second step, three new models were fitted by adding either maternal imprinting effect, paternal imprinting effect, or both of them, respectively, to the best model already selected in the first step, and changes in AIC were monitored. (Co)variances between traits were estimated using bivariate analyses. In Baluchi sheep, for BW, WW and W6, estimates of maternal imprinting heritability ( ${\boldsymbol h}_{{\boldsymbol mi}}^2$ ) were 0.12 ± 0.02, 0.08 ± 0.01 and 0.09 ± 0.01, respectively. In Makuie sheep, paternal imprinting heritability ( ${\boldsymbol h}_{{\boldsymbol pi}}^2$ ) for BW, WW, W6, GRb and KRb were 0.17 ± 0.05, 0.8 ± 0.05, 0.38 ± 0.10, 0.71 ± 0.15 and 0.65 ± 0.13, respectively. In Baluchi sheep, strong maternal imprinting correlations were observed between BW and WW (0.93 ± 0.05), BW and W6 (0.80 ± 0.07) and WW and W6 (0.91 ± 0.02). In Makuie sheep, paternal imprinting correlations ranged from −0.97 ± 0.33 (BW-GRb) to 0.99 ± 0.47 (GRb-KRb). It was concluded that imprinting effects need to be included in the statistical model to increase the accuracy of genetic evaluation. However, to have accurate and reliable estimates of imprinting effects, the availability of large data sets and deep pedigrees are necessary.

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“…Previously, DLK1 has been widely studied in sheep for the diagnosis of the Single Nucleotide Polymorphism (SNP) for the CLPG phenotype ( Cockett et al., 1996 ). Smit et al. (2003) have studied DLK1 expression in the CLPG phenotype and as a result, they have shown that the expression level of DLK1 enhanced.…”

Section: Introductionmentioning

confidence: 99%

“…Due to the important role of DLK1 in muscle and its association with the CLPG phenotype in sheep, it is an important candidate gene in marker-assisted selection. However, the mutation in CLPG, which is breed-specific, is only seen in callipyge herds ( Smit et al., 2003 ). In a previous study, Kim et al.…”

Section: Introductionmentioning

confidence: 99%

Fennel (Foeniculum vulgare) seed powder increases Delta-Like Non-Canonical Notch Ligand 1 gene expression in testis, liver, and humeral muscle tissues of growing lambs

Mohammadabadi

Masoudzadeh

Khezri

et al. 2021

Heliyon

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Delta-Like Non-Canonical Notch Ligand 1 (DLK1) is one of the key genes involved in the development of muscle, liver, pancreas, and lung cells; adipocytes production; and the improvement of digestion, growth performance, and meat quality. It has been documented that fennel is effective on increasing the DLK1 gene ( DLK1 ) expression in the testis, liver, and muscle tissues, which may consequently have important implications for sheep production. Hence, the aim of the current investigation was to evaluate the fennel seed powder's effect on DLK1 expression in testis, liver, and humeral muscle tissues in growing lambs. For the purpose of this study, 30 male Kermani sheep were fed with three different group of diets (number of animals in each group was 10), including control (without any fennel seed powder), treatment 1 (with 10 g/kg of dry matter (DM) fennel seed powder), and treatment 2 (with 20 g/kg of DM fennel seed powder) during a 3-month period. Thereafter, total RNA was extracted, cDNA was synthesized, and Real-Time PCR was performed. The addition of fennel seed powder (in the treatment 1 and treatment 2 groups) in the growing lambs diets consequently resulted in greater expression of DLK1 in both the liver and humeral muscle tissues compared to the testis tissue (P < 0.05). Furthermore, the increased DLK1 expression was higher in the tissue of humeral muscle (P < 0.05) in comparison to the other two tissues. As well, the concentration of blood testosterone was greater (P < 0.05) for the animals fed with fennel powder compared to growing lambs fed with the control diet. However, the concentrations of blood liver enzymes, including serum glutamic oxaloacetic transaminase (SGOT) and serum glutamic pyruvic transaminase (SGPT), decreased by the addition of 10 g/kg DM fennel to diets of lambs compared to the control diet (no fennel). Therefore, it can be concluded that using fennel seed powder in the diet of growing lamb by affecting the expression of DLK1, can improve the concentrations of blood testosterone, SGOT, SGPT, and muscle structure (increased mass of muscle and size of muscle fiber).

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Mosaicism of Solid Gold Supports the Causality of a Noncoding A-to-G Transition in the Determinism of the Callipyge Phenotype

Cited by 94 publications

References 8 publications

Sheep as an Experimental Model for Human ART: Novel Insights on Phenotypic Alterations in ART‐Derived Sheep Conceptuses

Sheep as an Experimental Model for Human ART: Novel Insights on Phenotypic Alterations in ART‐Derived Sheep Conceptuses

Parental imprinting effects on growth traits and Kleiber ratio in sheep

Fennel (Foeniculum vulgare) seed powder increases Delta-Like Non-Canonical Notch Ligand 1 gene expression in testis, liver, and humeral muscle tissues of growing lambs

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