A chromosomal duplication that includes the canine microsatellite INRA21 in Labrador Retrievers

Onogi, Akio; Nurimoto, Masanobu; Sato, Yuko; Morita, Mitsuo

doi:10.1111/j.1365-2052.2008.01705.x

Cited by 3 publications

(1 citation statement)

References 25 publications

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“…The principle of SQM-PCR has been described elsewhere [Charbonnier et al, 2000;Heath et al, 2000;Garcia-Garcia et al, 2006;Onogi et al, 2008]. We adapted a SQM-PCR protocol for the evaluation of the presence of CNV in the goat DNA samples obtained from blood using the Promega Wizard Genomic DNA Purification kit (6 Girgentana, 7 Saanen, 2 Camosciata delle Alpi, 9 black Murciano-Granadina, and 8 caoba Murciano-Granadina samples, including all animals used for the aCGH experiment).…”

Section: Semiquantitative Fluorescent Multiplex Pcr (Sqm-pcr)mentioning

confidence: 99%

Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (ASIP) Gene in Goat Breeds with Different Coat Colors

Fontanesi

Beretti

Riggio

et al. 2009

Cytogenet Genome Res

132

121

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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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Section: Semiquantitative Fluorescent Multiplex Pcr (Sqm-pcr)mentioning

confidence: 99%

Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (ASIP) Gene in Goat Breeds with Different Coat Colors

Fontanesi

Beretti

Riggio

et al. 2009

Cytogenet Genome Res

132

121

View full text Add to dashboard Cite

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Copy number variation in the domestic dog

Álvarez

Akey

2011

Mamm Genome

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Differences in the content and organization of DNA, collectively referred to as structural variation, have emerged as a major source of genetic and phenotypic diversity within and between species. In addition, structural variation provides an important substrate for evolutionary innovations. Here, we review recent progress in characterizing patterns of canine structural variation within and between breeds, and in correlating copy number variants (CNVs) with phenotypes. Because of the extensive phenotypic diversity that exists within and between breeds and the tantalizing examples of canine CNVs that influence traits such as skin wrinkling in Shar-Pei, dorsal hair ridge in Rhodesian and Thai Ridgebacks, and short limbs in many breeds such as Dachshunds and Corgis, we argue that domesticated dogs are uniquely poised to contribute novel insights into CNV biology. As new technologies continue to be developed and refined, the field of canine genomics is on the precipice of a deeper understanding of how structural variation and CNVs contribute to canine genetic diversity, phenotypic variation, and disease susceptibility.

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Researches on animal breeding and genetics in Livestock Improvement Association of Japan, Inc.

Watanabe

2016

The Journal of Animal Genetics

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A chromosomal duplication that includes the canine microsatellite INRA21 in Labrador Retrievers

Cited by 3 publications

References 25 publications

Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (<i>ASIP)</i> Gene in Goat Breeds with Different Coat Colors

Copy Number Variation and Missense Mutations of the Agouti Signaling Protein (<i>ASIP)</i> Gene in Goat Breeds with Different Coat Colors

Copy number variation in the domestic dog

Researches on animal breeding and genetics in Livestock Improvement Association of Japan, Inc.

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