• Skin Transcriptome Profiles Associated with Coat Color in Sheep

    Previous molecular genetic studies of physiology and pigmentation of sheep skin have focused primarily on a limited number of genes and proteins. To identify additional genes that may play important roles in coat color regulation, Illumina sequencing technology was used to catalog global gene expression profiles in skin of sheep with white versus black coat color. more »
  • Identification and Characterization of microRNAs in White and Brown Alpaca Skin

    MicroRNAs (miRNAs) are small, non-coding 21–25 nt RNA molecules that play an important role in regulating gene expression. Little is known about the expression profiles and functions of miRNAs in skin and their role in pigmentation. Alpacas have more than 22 natural coat colors, more than any other fiber producing species. To better understand the role of miRNAs in control of coat color we performed a comprehensive analysis of miRNA expression profiles in skin of white versus brown alpacas. more »
  • Characterisation of the Melanocortin-1 Receptor Gene in Alpaca and Identification of Possible Markers Associated with Phenotypic Variations in Colour

    The aim of this study was to determine if any correlation exists between melanocortin-1 receptor (MC1R) polymorphisms and skin and fibre colour in alpacas. Primers capable of amplifying the entire alpaca MC1R gene were designed from a comparative alignment of Bos taurus and Mus musculus MC1R gene sequences. The complete MC1R gene of 41 alpacas exhibiting a range of fibre colours, and which were sourced from farms across Australia, was sequenced from PCR products. Twenty-one single nucleotide polymorphisms were identified within MC1R. Two of these polymorphisms (A82G and C901T) have the potential to reduce eumelanin production by disrupting the activity of MC1R. No agreement was observed between fibre colour alone and MC1R genotype in the 41 animals in this study. However, when the animals were assigned to groups based on the presence or absence of eumelanin in their fibre and skin, only animals that had at least one allele with the A82/C901 combination expressed eumelanin. We propose that A82/C901 is the wild-type dominant ‘E’ MC1R allele, while alpacas with either G82/T901 or G82/Y901 are homozygous for the recessive ‘e’ MC1R allele and are therefore unable to produce eumelanin. more »
  • Gene Expression Levels of Alpaca Tyrosinase Gene Family in Individuals of Different Colors

    Melanin plays important roles in the formation of animal hair color, the members of TYR gene family participate in the synthesis of melanin. For exploring the relationship between gene expression of alpaca TYR gene family and alpaca's coat color, the relative expression quantity of TYR,TRP1,TRP2 in alpaca of different colors were analyzed by using real-time quantitative PCR in this research. Results showed that the relative expression quantity of TYR,TRP1,TRP2 in Brown alpaca respectively were 13.669,3.417,8.593 times than that in White alpaca, all results were corrected by the household gene. The findings indicated that gene expression level of TYR gene family in Brown alpaca were higher than that in White alpaca, and the gene expression level of TYR gene family were related with phenotype of alpacas' coat color. more »
  • The Alpaca Agouti Gene: Genomic Locus, Transcripts and Causative Mutations of Eumelanic and Pheomelanic Coat Color

    The agouti gene encodes the agouti signaling protein (ASIP) which regulates pheomelanin and eumelanin synthesis in mammals. To investigate the role of agouti in coat color variation of alpaca, we characterized the agouti gene and identified three mutations potentially involved with the determinism of eumelanic and pheomelanic phenotypes. The exon-4 hosts the mutations g.3836C>T, g.3896G>A and g.3866_3923del57. Further analysis of these mutations revealed two genotypes for black animals. The reverse transcription analysis of mRNA purified from skin biopsies of alpaca revealed the presence of three transcripts with different 5′ untranslated regions (UTRs) and color specific expression. The white specific transcript, possibly originating from a duplication event (intra-chromosomal recombination) of the agouti gene is characterise by a 5′UTR containing 142 bp of the NCOA6 gene sequence. Furthermore, the relative level expression analysis of mRNA demonstrates that the agouti gene has up-regulated expression in white skin, suggesting a pleiotropic effect of agouti in the white phenotype. Our findings refine the structure of the agouti locus and transcripts and provide additional information in order to understand the role of agouti in the pigmentation of alpaca. more »