| Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors. | |
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MedLine Citation:
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PMID: 20016133 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In goats, classical genetic studies reported a large number of alleles at the Agouti locus with effects on coat color and pattern distribution. From these early studies, the dominant A(Wt) (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, 3 of 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 associated or 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 A(Wt) 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. |
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Authors:
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L Fontanesi; F Beretti; V Riggio; E G?mez Gonz?lez; S Dall'Olio; R Davoli; V Russo; B Portolano |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-12-16 |
Journal Detail:
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Title: Cytogenetic and genome research Volume: 126 ISSN: 1424-859X ISO Abbreviation: Cytogenet. Genome Res. Publication Date: 2009 |
Date Detail:
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Created Date: 2010-01-29 Completed Date: 2010-02-05 Revised Date: 2010-03-26 |
Medline Journal Info:
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Nlm Unique ID: 101142708 Medline TA: Cytogenet Genome Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 333-47 Citation Subset: IM |
Copyright Information:
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Copyright 2009 S. Karger AG, Basel. |
Affiliation:
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DIPROVAL, Sezione di Allevamenti Zootecnici, University of Bologna, IT-42100 Reggio Emilia, Italy. luca.fontanesi@unibo.it |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Agouti Signaling Protein
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chemistry,
genetics* Amino Acid Sequence Animals Base Sequence Breeding Color Comparative Genomic Hybridization DNA Copy Number Variations* Goats / anatomy & histology, genetics* Humans Molecular Sequence Data Mutation, Missense* Polymorphism, Single Nucleotide Sequence Alignment |
| Chemical | |
Reg. No./Substance:
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0/Agouti Signaling Protein |
| Comments/Corrections | |
Erratum In:
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Cytogenet Genome Res. 2009;127(1):66 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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