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Three novel mutations in ASIP associated with black fibre in alpacas (Vicugna pacos)

Published online by Cambridge University Press:  05 January 2011

N. L. FEELEY ,
S. BOTTOMLEY  and
K. A. MUNYARD
N. L. FEELEY
Affiliation:
WABRI, School of Biomedical Sciences, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
S. BOTTOMLEY
Affiliation:
WABRI, School of Biomedical Sciences, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
K. A. MUNYARD*
Affiliation:
WABRI, School of Biomedical Sciences, Faculty of Health Sciences, Curtin University, Perth, Western Australia, Australia
*
*To whom all correspondence should be addressed. Email: [email protected]
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Summary

The coding region of the alpaca Agouti signalling protein (ASIP) gene was sequenced. It was determined to be 402 nucleotides long and code for a protein that is 133 amino acids long. Eight mutations were identified in a sample of 15 alpaca, five in the coding region and three in the introns flanking the exons. In silico analysis showed that three of the five mutations in the coding sequence, c.325_381del57, c.292C>T and c.353G>A are probable loss-of-function mutations. The three mutations were strongly associated with black fibre colour, with 0·90 of black alpacas in the current study having two copies of one or another of the mutations. However, not all black animals displayed the putative ‘aa’ genotype, and almost half of the non-black animals did display that genotype. Contributing factors such as regulatory region mutations, interactions of ASIP with melanocortin-1 receptor (MC1R) and α-melanocyte stimulating hormone (α-MSH), the effect of dilution genes and subjective phenotype assignment are discussed. These mutations will allow alpaca breeders to select for or against black, but they do not explain all black phenotypes in this species.

Type
Animals
Information
The Journal of Agricultural Science , Volume 149 , Issue 4 , August 2011 , pp. 529 - 538
Copyright
Copyright © Cambridge University Press 2011

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