PMID- 14970705
OWN - NLM
STAT- MEDLINE
DCOM- 20040607
LR  - 20211203
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 102
IP  - 1-4
DP  - 2003
TI  - Molecular characterization and mutational screening of the PRKAG3 gene in the 
      horse.
PG  - 211-6
AB  - The PRKAG3 gene encodes a muscle-specific isoform of the regulatory gamma subunit 
      of AMP-activated protein kinase (AMPK). A major part of the coding PRKAG3 
      sequence was isolated from horse muscle cDNA using reverse-transcriptase (RT)-PCR 
      analysis. Horse-specific primers were used to amplify genomic fragments 
      containing 12 exons. Comparative sequence analysis of horse, pig, mouse, human, 
      Fugu, and zebrafish was performed to establish the exon/intron organization of 
      horse PRKAG3 and to study the homology among different isoforms of AMPK gamma 
      genes in vertebrates. The results showed conclusively that the three different 
      isoforms (gamma1, gamma2, and gamma3) were established already in bony fishes. 
      Seven single nucleotide polymorphisms (SNPs), five causing amino acid 
      substitutions, were identified in a screening across horse breeds with widely 
      different phenotypes as regards muscle development and intended performance. The 
      screening of a major part of the PRKAG3 coding sequence in a small case/control 
      material of horses affected with polysaccharide storage myopathy did not reveal 
      any mutation that was exclusively associated with this muscle storage disease. 
      The breed comparison revealed several potentially interesting SNPs. One of these 
      (Pro258Leu) occurs at a residue that is highly conserved among AMPK gamma genes. 
      In an SNP screening, the variant allele was only found in horse breeds that can 
      be classified as heavy (Belgian) or moderately heavy (North Swedish Trotter, 
      Fjord, and Swedish Warmblood) but not in light horse breeds selected for speed or 
      racing performance (Standardbred, Thoroughbred, and Quarter horse) or in ponies 
      (Icelandic horses and Shetland pony). The results will facilitate future studies 
      of the possible functional significance of PRKAG3 polymorphisms in horses.
CI  - Copyright 2003 S. Karger AG, Basel
FAU - Park, H B
AU  - Park HB
AD  - Department of Animal Breeding and Genetics, Swedish University of Agricultural 
      Sciences, Uppsala, Sweden.
FAU - Marklund, S
AU  - Marklund S
FAU - Jeon, J T
AU  - Jeon JT
FAU - Mickelson, J R
AU  - Mickelson JR
FAU - Valberg, S J
AU  - Valberg SJ
FAU - Sandberg, K
AU  - Sandberg K
FAU - Andersson, L
AU  - Andersson L
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
RN  - 0 (Multienzyme Complexes)
RN  - 0 (Prkag1 protein, mouse)
RN  - EC 2.7.- (Protein Kinases)
RN  - EC 2.7.11.1 (PRKAG1 protein, human)
RN  - EC 2.7.11.1 (PRKAG3 protein, human)
RN  - EC 2.7.11.1 (Prkag3 protein, mouse)
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
RN  - EC 2.7.11.31 (AMP-Activated Protein Kinases)
SB  - IM
MH  - AMP-Activated Protein Kinases
MH  - Animals
MH  - Computational Biology/methods
MH  - DNA Mutational Analysis/*methods/*veterinary
MH  - Genetic Variation/genetics
MH  - Horse Diseases/genetics
MH  - Horses
MH  - Humans
MH  - Mice
MH  - Multienzyme Complexes
MH  - Muscular Diseases/genetics
MH  - Phylogeny
MH  - Polymorphism, Single Nucleotide/genetics
MH  - Protein Kinases/*genetics
MH  - Protein Serine-Threonine Kinases
MH  - Swine
MH  - Takifugu
MH  - Zebrafish
EDAT- 2004/02/19 05:00
MHDA- 2004/06/21 10:00
CRDT- 2004/02/19 05:00
PHST- 2003/05/28 00:00 [received]
PHST- 2003/09/02 00:00 [accepted]
PHST- 2004/02/19 05:00 [pubmed]
PHST- 2004/06/21 10:00 [medline]
PHST- 2004/02/19 05:00 [entrez]
AID - 75751 [pii]
AID - 10.1159/000075751 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2003;102(1-4):211-6. doi: 10.1159/000075751.