Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colours

Valentina Riggio, Baldassare Portolano, Luca Fontanesi, Beretti, Gómez González, Russo, Stefania Dall'Olio, Davoli, Vincenzo Russo

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90 Citazioni (Scopus)


In goats, classical genetic studies reported a large number of alleles at the Agouti locus with effects on coat color and patterndistribution. From these early studies, the dominant AWt(white/tan) allele was suggested to cause the white color of the Saanen breed. Here, we sequenced the coding region of the goat ASIP gene in 6 goat breeds (Girgentana, Maltese, Derivata di Siria, Murciano-Granadina, Camosciata delle Alpi,and Saanen), with different coat colors and patterns. Five single nucleotide polymorphisms (SNPs) were identified, 3of which caused missense mutations in conserved positions of the cysteine-rich carboxy-terminal domain of the protein(p.Ala96Gly, p.Cys126Gly, and p.Val128Gly). Allele and genotype frequencies suggested that these mutations are not associatedor not completely associated with coat color in the investigated goat breeds. Moreover, genotyping and sequencing results, deviation from Hardy-Weinberg equilibrium, as well as allele copy number evaluation from semiquantitative fluorescent multiplex PCR, indicated the presence of copy number variation (CNV) in all investigated breeds. To confirm the presence of CNV and evaluate its extension, we applied a bovine-goat cross-species array comparative genome hybridization (aCGH) experiment using a custom tiling array based on bovine chromosome 13. aCGH results obtained for 8 goat DNA samples confirmed the presence of CNV affecting a region of less that 100 kb including the ASIP and AHCY genes. In Girgentana and Saanen breeds, this CNV might cause the AWt allele, as already suggested for a similar structural mutation in sheep affecting the ASIP and AHCY genes, providing evidence for a recurrent interspecies CNV. However, other mechanisms may also be involved in determining coat color in these 2 breeds.
Lingua originaleEnglish
pagine (da-a)333-347
Numero di pagine15
RivistaCytogenetic and Genome Research
Stato di pubblicazionePublished - 2009

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.1300.1311???
  • ???subjectarea.asjc.2700.2716???


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