Povezanost novog polimorfizma pojedinačnog nukleotida u eksonu 2 gena za inzulinu sličan faktor rasta 1 (IGF1) s fenotipskim varijantama u koza

The Insulin-Like Growth Factor 1 plays a key role in foetal development and post natal growth. The objectives of this study were to characterise the complete coding sequence of caprine IGF1 gene in two indigenous goat breeds of India: Malabari and Attappady Black, to detect polymorphisms of IGF1 gene, to investigate their effects on body size traits and to ascertain the relative expression of IGF1 mRNA in muscle tissues of goats belonging to low and high body weight groups. All the four exons of caprine IGF1 gene were amplified and characterized by PCR-SSCP in 298 goats, revealing two genotypes (CC and CT) at exon 2. Sequencing of the PCR products from each genotype revealed a novel SNP, g.80C>T (GenBank accession No. KM974180), which caused a non-synonymous mutation (Thr48Met),causing differences in IGF1 protein structure. Association analysis of the loci indicated CT genotypes have higher body length (P0.05). The results of the present study suggest that the alleles of the IGF1 gene could be considered as strong targets for improvement of growth traits in goats.Inzulinu sličan faktor rasta 1 (IGF1) ima ključnu ulogu u razvoju ploda i postnatalnom rastu. Cilj je ovog istraživanja bio okarakterizirati cijelu kodirajuću sekvenciju IGF1 gena koza u dvije autohtone pasmine iz Indije: malabari i crna atapadi. S tim u vezi željelo se utvrditi polimorfizme IGF1 gena i istražiti njihove učinke na obilježja tjelesne razvijenosti, te ustanoviti relativnu ekspresiju IGF1 mRNA u mišićnom tkivu koza s malom i velikom tjelesnom masom. Kod 298 koza umnožena su sva 4 eksona IGF1 gena i okarakterizirana uz pomoć PCR-SSCP. Na eksonu 2 utvrđena su dva genotipa (CC i CT). Analiza sekvencije PCR produkata od svakog genotipa pokazala je novi polimorfizam pojedinačnog nukleotida, g. 80C>T (GenBank No. KM974180) koja je uzrokovala neistovjetnu mutaciju (Thr48Met) i razlike u strukturi proteina IGF1. Analiza povezanosti lokusa pokazala je da CT genotipovi imaju u odnosu na CC genotipove veću dužinu tijela (P0,05) u ekspresiji IGF1 mRNA u mišićnom tkivu koza s malim i velikim tjelesnim masama. Rezultati istraživanja upućuju da bi alele IGF1 gena mogli smatrati ciljanom skupinom za unaprjeđenju obilježja rasta u koza

Association of a novel single nucleotide polymorphism at the exon‑2 of Insulin-Like Growth Factor 1 (IGF1) gene with phenotypic variants in goats

The Insulin-Like Growth Factor 1 plays a key role in foetal development and post natal growth. The objectives of this study were to characterise the complete coding sequence of caprine IGF1 gene in two indigenous goat breeds of India: Malabari and Attappady Black, to detect polymorphisms of IGF1 gene, to investigate their effects on body size traits and to ascertain the relative expression of IGF1 mRNA in muscle tissues of goats belonging to low and high body weight groups. All the four exons of caprine IGF1 gene were amplified and characterized by PCR-SSCP in 298 goats, revealing two genotypes (CC and CT) at exon 2. Sequencing of the PCR products from each genotype revealed a novel SNP, g.80C>T (GenBank accession No. KM974180), which caused a non-synonymous mutation (Thr48Met),causing differences in IGF1 protein structure. Association analysis of the loci indicated CT genotypes have higher body length (P0.05). The results of the present study suggest that the alleles of the IGF1 gene could be considered as strong targets for improvement of growth traits in goats.Inzulinu sličan faktor rasta 1 (IGF1) ima ključnu ulogu u razvoju ploda i postnatalnom rastu. Cilj je ovog istraživanja bio okarakterizirati cijelu kodirajuću sekvenciju IGF1 gena koza u dvije autohtone pasmine iz Indije: malabari i crna atapadi. S tim u vezi željelo se utvrditi polimorfizme IGF1 gena i istražiti njihove učinke na obilježja tjelesne razvijenosti, te ustanoviti relativnu ekspresiju IGF1 mRNA u mišićnom tkivu koza s malom i velikom tjelesnom masom. Kod 298 koza umnožena su sva 4 eksona IGF1 gena i okarakterizirana uz pomoć PCR-SSCP. Na eksonu 2 utvrđena su dva genotipa (CC i CT). Analiza sekvencije PCR produkata od svakog genotipa pokazala je novi polimorfizam pojedinačnog nukleotida, g. 80C>T (GenBank No. KM974180) koja je uzrokovala neistovjetnu mutaciju (Thr48Met) i razlike u strukturi proteina IGF1. Analiza povezanosti lokusa pokazala je da CT genotipovi imaju u odnosu na CC genotipove veću dužinu tijela (P0,05) u ekspresiji IGF1 mRNA u mišićnom tkivu koza s malim i velikim tjelesnim masama. Rezultati istraživanja upućuju da bi alele IGF1 gena mogli smatrati ciljanom skupinom za unaprjeđenju obilježja rasta u koza