Estimating the copy number of the agouti signaling protein (ASIP) gene in goat breeds with different color patterns
Guan, Dailu (Centre de Recerca en Agrigenòmica)
Castelló Farré, Anna (Universitat Autònoma de Barcelona. Departament de Ciència Animal i dels Aliments)
Luigi Sierra, Maria Gracia (Centre de Recerca en Agrigenòmica)
Landi, Vincenzo (University of Bari "Aldo Moro")
Delgado Bermejo, Juan Vicente (Universidad de Córdoba. Departamento de Genética)
Martinez, Amparo (Universidad de Córdoba. Departamento de Genética)
Amills i Eras, Marcel (Centre de Recerca en Agrigenòmica)

Data:	2021
Resum:	The agouti signaling protein (ASIP) gene has a crucial role in pigmentation by encoding a protein that binds the melanocortin 1 receptor and stimulates the synthesis of pheomelanin rather than eumelanin. Several studies have suggested that an increased copy number of the ASIP gene might explain the white pigmentation of certain goat breeds, as previously demonstrated in sheep. In the current work, we have identified the segregation of the ASIP CNV in Murciano-Granadina (black or brown coat), Malagueña (brown, blond or white coat) and Saanen (white coat) goats with available Illumina Goat SNP50 BeadChip (Illumina Inc. , San Diego, CA) data by using the PennCNV v1. 0. 5 and QuantiSNP v2 tools. This result shows that the ASIP CNV segregates in non-white breeds. To gain new insights into this issue, we have estimated the copy number of the ASIP gene in 83 goats from 8 breeds with different coloration patterns using a real-time quantitative PCR approach. Our results showed an increased ASIP copy number not only in Saanen (3. 50 ± 0. 23 copies relative to the calibrator) and white Malagueña (3. 51 ± 0. 51 copies) goats, but also in the Murciano-Granadina breed (3. 33 ± 0. 58 copies) as well as in blond/brown individuals from the Malagueña (3. 58 ± 0. 73 copies) breed. The number of ASIP copies was not significantly different in these four caprine populations (P > 0. 05). Moreover, we did not observe a trend towards increased ASIP copy number in breeds with predominantly white colors, such as Maltese (2. 85 ± 0. 28 copies), Jonica (2. 82 ± 0. 39 copies) and Blanca de Rasquera (2. 37 ± 0. 33 copies). Our results, combined with recent findings demonstrating the high structural complexity of the ASIP locus, indicate that additional functional and expression studies should be performed in order to fully understand the role of ASIP structural variation in goat pigmentation.
Ajuts:	Ministerio de Ciencia e Innovación AGL2016-76108-R Ministerio de Economía y Competitividad SEV-2015-0533 Ministerio de Economía y Competitividad BES-2017-079709
Nota:	Altres ajuts: CERCA Programme/Generalitat de Catalunya
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió acceptada per publicar
Matèria:	ASIP ; Copy number variation ; Pigmentation ; Real-time quantitative PCR
Publicat a:	Livestock Science, Vol. 246 (April 2021) , art. 104440, ISSN 1878-0490

DOI: 10.1016/j.livsci.2021.104440

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