ArticleBMC genomics2007
Multiple splice variants within the bovine silver homologue (SILV) gene affecting coat color in cattle indicate a function additional to fibril formation in melanophores.
Article in BMC genomics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Uncovering genes underlying coat color variation in indigenous cattle breeds through genome-wide positive selection.Animal biotechnology · 2023Article
- Article
- A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Columba livia).PLoS genetics · 2020Article
- Nonsense mutation in PMEL is associated with yellowish plumage colour phenotype in Japanese quail.Scientific reports · 2018Article
- Epistatic interactions between at least three loci determine the "rat-tail" phenotype in cattle.Genetics, selection, evolution : GSE · 2016Article
- An interpretive review of selective sweep studies in Bos taurus cattle populations: identification of unique and shared selection signals across breeds.Frontiers in genetics · 2015Review
- Identification of novel transcripts and noncoding RNAs in bovine skin by deep next generation sequencing.BMC genomics · 2013Article
- Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.PloS one · 2013Article
- Targeted analysis of four breeds narrows equine Multiple Congenital Ocular Anomalies locus to 208 kilobases.Mammalian genome : official journal of the International Mammalian Genome Society · 2011Article
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2 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundThe silver homologue(SILV) gene plays a major role in melanosome development. SILV is a target for studies concerning melanoma diagnostics and therapy in humans as well as on skin and coat color pigmentation in many species ranging from zebra fish to mammals. However, the precise functional cellular mechanisms, in which SILV is involved, are still not completely understood. While there are many studies addressing SILV function upon a eumelaneic pigment background, there is a substantial lack of information regarding the further relevance of SILV, e.g. for phaeomelanosome development.
resultsIn contrast to previous results in other species reporting SILV expression exclusively in pigmented tissues, our experiments provide evidence that the bovine SILV gene is expressed in a variety of tissues independent of pigmentation. Our data show that the bovine SILV gene generates an unexpectedly large number of different transcripts occurring in skin as well as in non-pigmented tissues, e.g. liver or mammary gland. The alternative splice sites are generated by internal splicing and primarily remove complete exons. Alternative splicing predominantly affects the repeat domain of the protein, which has a functional key role in fibril formation during eumelanosome development.
conclusionThe expression of the bovine SILV gene independent of pigmentation suggests SILV functions exceeding melanosome development in cattle. This hypothesis is further supported by transcript variants lacking functional key elements of the SILV protein relevant for eumelanosome development. Thus, the bovine SILV gene can serve as a model for the investigation of the putative additional functions of SILV. Furthermore, the splice variants of the bovine SILV gene represent a comprehensive natural model to refine the knowledge about functional domains in the SILV protein. Our study exemplifies that the extent of alternative splicing is presumably much higher than previously estimated and that alternatively spliced transcripts presumably can generate molecules of deviating function compared to their constitutive counterpart.
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