Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons

@article{Amarger2003ComparativeSA,
  title={Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons},
  author={Val{\'e}rie Amarger and R. Erlandsson and Gerli Rosengren Pielberg and Jin Tae Jeon and L. Andersson},
  journal={Cytogenetic and Genome Research},
  year={2003},
  volume={102},
  pages={163 - 172}
}
The PRKAG3 gene encodes the γ3 chain of AMP-activated protein kinase (AMPK). A non-conservative missense mutation in the PRKAG3 gene causes a dominant phenotype involving abnormally high glycogen content in pig skeletal muscle. We have determined >126 kb (in 13 contigs) of porcine genomic sequence surrounding the PRKAG3 gene and the corresponding mouse region covering the gene. A comparison of these PRKAG3 sequences and the human sequence was conducted and used to predict evolutionarily… 

Figures and Tables from this paper

Molecular cloning and characterization of bovine PRKAG3 gene: structure, expression and single nucleotide polymorphism detection.
  • S. Yu, J. Kim, J. Lee
  • Biology, Medicine
    Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
  • 2005
TLDR
The bovine PRKAG3 gene may be involved in muscle-related genetic diseases or meat quality traits in cattle, and seven single nucleotide polymorphisms were detected in four Bos taurus cattle breeds.
Characterization of the bovine PRKAG3 gene: structure, polymorphism, and alternative transcripts
The bovine PRKAG3 gene encodes the AMPK γ3 subunit, one isoform of the regulatory γ subunit of the AMP-activated protein kinase (AMPK). The AMPK plays a major role in the regulation of energy
Molecular cloning, genomic organization, and expression of three chicken 5'-AMP-activated protein kinase gamma subunit genes.
TLDR
The cPRKAG subunit genes displayed similar structural features and high sequence homology compared with corresponding mammalian gamma subunit gene homologues and, in some cases, tissue-specific expression was observed.
SNP variation in the promoter of the PRKAG3 gene and association with meat quality traits in pig
TLDR
Gene expression levels of the porcine PRK AG3 are associated with meat quality phenotypes relating to glycolytic potential and IMF% in the Large White breed, while SNP variation in the promoter region of the gene is associated with PRKAG3 gene expression and meat quality Phenotypes.
Genetic Imprinting of H19 and IGF2 in Domestic Pigs (Sus scrofa)
TLDR
The genes insulin-like growth factor 2 (IGF2) and H19 express paternally and maternally, respectively, in humans, mice, sheep, and cattle and the imprinting status of these two genes is determined in 13 organs / tissues of week-old pigs.
Molecular coat colour genetics
Coat colour, being sufficiently easy to observe and score, is a model phenotype for studying gene action and interaction. Farm animals provide us a valuable resource for identifying genes behind such
Variation found in potential genes influencing growth and carcass composition in Ovis aries: UCP1 and PRKAG3
TLDR
This paper aims to provide a history of the field and some of the techniques used in its development, as well as some of its subsequent publications, to help clarify its aims and aims.

References

SHOWING 1-10 OF 31 REFERENCES
Comparative analysis of a BAC contig of the porcine RN region and the human transcript map: implications for the cloning of trait loci.
TLDR
The extensive linkage conservation indicates that the near complete human transcript map will be an invaluable resource for positional cloning projects in pigs and other domestic animals.
Long Terminal Repeats Are Used as Alternative Promoters for the Endothelin B Receptor and Apolipoprotein C-I Genes in Humans*
TLDR
This investigation reports two examples where LTR sequences contribute to increased transcription of human genes and illustrates the impact of mobile elements on gene and genome evolution.
The ability to form intrastrand tetraplexes is an evolutionarily conserved feature of the 3' end of L1 retrotransposons.
TLDR
While the 3' UTRs of L1 elements from different species share little if any sequence homology, they all contain a G-rich polypurine tract of variable length and sequence which can form one or more intrastrand tetraplexes, suggesting that either the G- rich motif itself or a conserved structure such as the tetraPlex that can be formed by this motif is a significant structural feature of L 1 elements and may play a role in their propagation.
Reading between the LINEs: human genomic variation induced by LINE-1 retrotransposition.
TLDR
A PCR-based display for the direct identification of dimorphic L1 elements from the human genome is reported, which represents a new source of identical-by-descent variation for the study of human evolution.
A novel E box/AT-rich element is required for muscle-specific expression of the sarcoplasmic reticulum Ca2+-ATPase (SERCA2) gene.
TLDR
It is demonstrated that the SERCA2 distal promoter region functions like an enhancer by activating a heterologous promoter (TK) in a muscle cell-specific manner.
Meiotic instability of human minisatellite CEB1 in yeast requires DNA double-strand breaks
TLDR
It is demonstrated that meiotic destabilization depends on the initiation of homologous recombination at nearby DNA double-strand break (DSBs) sites and involves a 'rearranged heteroduplex' intermediate.
A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
TLDR
It is shown that the dominant RN- mutation in purebred Hampshire pigs carries a nonconservative substitution (R200Q) in the PRKAG3 gene, which encodes a muscle-specific isoform of the regulatory gamma subunit of adenosine monophosphate-activated protein kinase (AMPK).
...
...