title: Analysis of the single-nucleotide polymorphism in the 5'UTR and part of intron I of the sheep MSTN gene.
abstract: The myostatin (MSTN) gene region encompassing the 5'UTR and part of intron I was sequenced in animals of two herds of Latvian Darkhead sheep to extend data on the ovine MSTN gene polymorphism and to provide information useful for local breed conservation. Two and four polymorphic loci were revealed in the 5'UTR and intron I. Four and five local haplotypes were constructed, respectively. The genotyping data obtained and that previously reported for the same genomic region were combined in one dataset for the haplotype analysis. Recombination events were detected between loci (c.-40, c.-37) in the 5'UTR and (c.373+18, c.373+101) and (c.373+101, c.373+241) in intron I. Single-nucleotide polymorphisms at c.373+249 and c.373+323 appear to be involved in the strong linkage (p < 0.01). Linkage blocks (c.373+241, c.373+243) and (c.373+241, c.373+259) were revealed at nominal (p < 0.05) level of probability. Haplotype-specific patterns of the transcription factor binding sites predicted in silico were constructed to evaluate a putative functional significance of the particular alleles and haplotypes. A nucleotide at c.373+18 was shown to influence the pre-mRNA secondary structure. DNA curvature predicted in silico for allele c.373+101C was proven experimentally. A possible impact of the particular polymorphisms on the transcription and/or splicing efficiency is discussed.
authors.affiliation: Genomics and Bioinformatics, Institute of Biology of the University of Latvia, Salaspils, Latvia. tanja@email.lubi.edu.lv
authors.forename: Tatjana
authors.initials: T
authors.lastname: Sjakste
authors.forename: Natalia
authors.initials: N
authors.lastname: Paramonova
authors.forename: Ziedonis
authors.initials: Z
authors.lastname: Grislis
authors.forename: Ilva
authors.initials: I
authors.lastname: Trapina
authors.forename: Daina
authors.initials: D
authors.lastname: Kairisa
mesh_terms: D020121:5' Untranslated Regions; D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D006239:Haplotypes; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D055435:Myostatin / Q000235:genetics*; D009690:Nucleic Acid Conformation; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D012756:Sheep / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D020121:5' Untranslated Regions; D055435:Myostatin