ArticleProceedings of the National Academy of Sciences of the United States of America2006
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers.
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110 citing papers in PubMed, 246 citations in OpenAlex.
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- Regulatory and disruptive variants in the CLCN2 gene are associated with modified skin color pattern phenotypes in the corn snake.Genome biology · 2025Article
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- Manifestations of systemic disease in the retina and fundus of cats and dogs.Frontiers in veterinary science · 2024Review
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- White and other fur colourations and hybridization in golden jackals (Canis aureus) in the Carpathian basin.Scientific reports · 2023Article
- GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
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- Chromosome-level, nanopore-only genome and allele-specific DNA methylation of Pallas's cat,NAR genomics and bioinformatics · 2023Article
- Tail Wags Dog's SINE: Retropositional Mechanisms of Can SINE Depend on Its A-Tail Structure.Biology · 2022Article
- Evolutionary Conservation Genomics Reveals Recent Speciation and Local Adaptation in Threatened Takins.Molecular biology and evolution · 2022Article
50 more citing papers are in PubMed but not listed here.
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4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Merle is a pattern of coloring observed in the coat of the domestic dog and is characterized by patches of diluted pigment. This trait is inherited in an autosomal, incompletely dominant fashion. Dogs heterozygous or homozygous for the merle locus exhibit a wide range of auditory and ophthalmologic abnormalities, which are similar to those observed for the human auditory-pigmentation disorder Waardenburg syndrome. Mutations in at least five genes have been identified as causative for Waardenburg syndrome; however, the genetic bases for all cases have not been determined. Linkage disequilibrium was identified for a microsatellite marker with the merle phenotype in the Shetland Sheepdog. The marker is located in a region of CFA10 that exhibits conservation of synteny with HSA12q13. This region of the human genome contains SILV, a gene important in mammalian pigmentation. Therefore, this gene was evaluated as a candidate for merle patterning. A short interspersed element insertion at the boundary of intron 10/exon 11 was found, and this insertion segregates with the merle phenotype in multiple breeds. Another finding was deletions within the oligo(dA)-rich tail of the short interspersed element. Such deletions permit normal pigmentation. These data show that SILV is responsible for merle patterning and is associated with impaired function of the auditory and ophthalmologic systems. Although the mutant phenotype of SILV in the human is unknown, these results make it an intriguing candidate gene for human auditory-pigmentation disorders.
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