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Microsatellite polymorphism in intron 1 of the bovine myostatin gene

100%

De_ l. R.-R. X. F., Perez M. A. R., Sifuentes-Rincon A. M.

Journal of Applied Genetics

2006

vol. 47

issue 1

55-57

Microsatellites within genes have become important because of their association with genetic diseases in humans. A novel microsatellite was identified in the first intron of the bovine myostatin gene. It is characterized by a mononucleotide core motif that exhibits polymorphic sequence variants (from 12 to 21 repeats) within and between some bovine breeds. Structural analysis of the microsatellite region in bovines as well as in closely related species permitted to trace the possible mechanisms for its structural evolution across the order Artiodactyla.

Gene expression profiling in skeletal muscle of Holstein-Friesian bulls with single-nucleotide polymorphism in the myostatin gene 5'-flanking region

70%

Sadkowski T., Jank M., Zwierzchowski L., Siadkowska E., Oprzadek J., Motyl T.

Journal of Applied Genetics

2008

vol. 49

issue 3

237-250

Myostatin (GDF-8) is a key protein responsible for skeletal muscle growth and development, thus mutations in the mstn gene can have major economic and breeding consequences. The aim of the present study was to investigate myostatin gene expression and transcriptional profile in skeletal muscle of Holstein-Friesian (Black-and-White) bulls carrying a polymorphism in the 5'-flanking region of the mstn gene (G/C transversion at position -7828). Real-time qRT-PCR and cDNA microarray revealed significantly lower mstn expression in muscle of bulls with the CC genotype, as compared to GG and GC genotypes. The direct comparison of skeletal muscle transcriptional profiles between the CC genotype and GG and GC genotypes resulted in identification of genes, of which at least some can be putative targets for myostatin. Using cDNA microarray, we identified 43 common genes (including mstn) with significantly different expression in skeletal muscle of bulls with the CC genotype, as compared to GG and GC genotypes, 15 of which were upregulated and 28 were downregulated in the CC genotype. Classification of molecular function of differentially expressed genes revealed the highest number of genes involved in the expression of cytoskeleton proteins (9), extracellular matrix proteins (4), nucleic acid-binding proteins (4), calcium-binding proteins (4), and transcription factors (4). The biological functions of the largest number of genes involved: protein metabolism and modification (10), signal transduction (10), cell structure (8), and developmental processes (8). The main identified signaling pathways were: Wnt (4), chemokines and cytokines (4), integrin (4), nicotine receptor for acetylocholine (3), TGF-beta (2), and cytoskeleton regulation by Rho GTPase (2). We identified previously unrecognized putatively myostatin-dependent genes, encoding transcription factors (EGR1, Nf1b, ILF1), components of the proteasomal complex (PSMB7, PSMD13) and proteins with some other molecular function in skeletal muscle (ITGB1BP3, Pla2g1b, ISYNA1, TNFAIP6, MST1, TNNT1, CALB3, CACYBP, and CTNNA1).

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2 Journal of Applied Genetics

1 2008

1 2006

1 De_ l. R.-R. X. F.

1 Jank M.

1 Motyl T.

1 Oprzadek J.

1 Perez M. A. R.

1 Sadkowski T.

1 Siadkowska E.

1 Sifuentes-Rincon A. M.

1 Zwierzchowski L.

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Microsatellite polymorphism in intron 1 of the bovine myostatin gene

Gene expression profiling in skeletal muscle of Holstein-Friesian bulls with single-nucleotide polymorphism in the myostatin gene 5'-flanking region