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The phenotypic effects of the M-1 mutation suggest a new kitl allele

100%

Gajewska M., Wirth-Dzieciolowska E., Karaszewska J., Krysiak E.

Cellular and Molecular Biology Letters

2002

tom 07

nr Suppl.

SNPs in the porcine PPARGC1A gene: interbreed differences and their phenotypic effects

63%

Stachowiak M., Szydlowski M., Cieslak J., Switonski M.

Cellular and Molecular Biology Letters

2007

tom 12

nr 2

Due to its function, the peroxisome proliferative activated receptor-γ, coactivator-1α (PPARGC1A) gene is a candidate in the search for genes that may affect production traits in the pig. The purpose of this study was to screen for new SNPs in exon 8 of the porcine PPARGC1A gene and to test their possible association with production traits. Altogether 736 pigs representing five breeds Polish Landrace, n=242; Polish Large White, n=192; Hampshire, n=27; Duroc, 21; Pietrain, n=12) and synthetic line 990 (n=242) were scanned via SSCP assay. Four SNPs were found; two new ones: C/G (His338Gln) and G/A Thr359Thr), and two previously reported ones: C/A (Arg369Arg) and T/A Cys430Ser). The missense T/A and C/G SNPs demonstrated pronounced interbreed variability in terms of allele frequencies, including the exclusive presence of the C/G substitution in the Hampshire breed. The tested SNPs occurred in five putative haplotypes, and their frequency also differed substantially between breeds. The association of the SNPs with production traits was tested for G/A (Thr359Thr), C/A (Arg369Arg) and T/A (Cys430Ser) substitutions in Polish Large White, Polish Landrace and line 990. The analysis revealed only breed-specific associations. The T/A (Cys430Ser) SNP was related to the feed conversion ratio in the Polish Large White (P=0.02), and the silent G/A and C/A substitutions were respectively associated with abdominal fat in line 990 and backfat thickness in Polish Landrace (P=0.04). The combined effects of the substitutions were estimated as haplotype effects. Three significant contrasts between haplotypes were calculated, but the observed associations were again only breed-specific.

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Molecular basis of malignant hyperthermia

51%

Gronek P., Slomski R.

Journal of Applied Genetics

1997

tom 38

nr 3

Malignant hyperthermia (MH) is a clinical syndrome in which genetically susceptible individuals respond to the administration of potent inhalation anaesthetics and depolarization skeletal muscle relaxants with skeletal rigidity, unstable blood pressure, tachycardia, arrhythmias, hyperventilation, hypoxia, lactic and respiratory acidosis and high fever. In studies of the genetic basis of MH, a mutation was identified in the porcine (C1843T) and human (C1840T) skeletal muscle ryanodine receptor (RYR1) gene. This gene is mapped on human chromosome 19q13.1. The RYR1 gene contains 106 exons, of which two arc alternatively spliced.

Ograniczanie wyników

2 Cellular and Molecular Biology Letters

1 Journal of Applied Genetics

1 Cieslak J.

1 Gajewska M.

1 Gronek P.

1 Karaszewska J.

1 Krysiak E.

1 Slomski R.

1 Stachowiak M.

1 Switonski M.

1 Szydlowski M.

1 Wirth-Dzieciolowska E.

1 2007

1 2002

1 1997

Wyniki wyszukiwania

The phenotypic effects of the M-1 mutation suggest a new kitl allele

SNPs in the porcine PPARGC1A gene: interbreed differences and their phenotypic effects

Molecular basis of malignant hyperthermia