Literature DB >> 17257181

Two SNPs in the SILV gene are associated with silver coat colour in ponies.

M Reissmann1, J Bierwolf, G A Brockmann.   

Abstract

In horses, a pigment dilution acting only on black eumelanin is the so-called silver coat colour, which is characterized by a chocolate-to-reddish body with a white mane and tail. Using information from other species, we focused our study on SILV as a possible candidate gene for the equine silver phenotype. A 1559-bp genomic fragment was sequenced in 24 horses, and five SNPs were detected. Two of the five SNPs (DQ665301:g.697A>T and DQ665301:g.1457C>T) were genotyped in 112 horses representing eight colour phenotypes. Both mutations were completely associated with the silver phenotype: all eumelanin-producing horses (blacks and bays) with atypical white mane and tail were carriers of the [g.697T; g.1457T] haplotype. We identified this haplotype as well as the silver phenotype only in Shetland ponies and Icelandic horses. Horses without eumelanin (chestnuts) were carriers of the [g.697T; g.1457T] haplotype, but they showed no phenotypic effect. The white or flaxen mane often detected in chestnuts is presumably based on another SILV mutation or on polymorphisms in other genes.

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Year:  2007        PMID: 17257181     DOI: 10.1111/j.1365-2052.2006.01553.x

Source DB:  PubMed          Journal:  Anim Genet        ISSN: 0268-9146            Impact factor:   3.169


  12 in total

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2.  Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases.

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3.  Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Mountain horses in Canada.

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Review 4.  The horse genome derby: racing from map to whole genome sequence.

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5.  Mapping of the domestic cat "SILVER" coat color locus identifies a unique genomic location for silver in mammals.

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6.  A mutation within the transmembrane domain of melanosomal protein Silver (Pmel17) changes lumenal fragment interactions.

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Journal:  PLoS Genet       Date:  2013-01-17       Impact factor: 5.917

10.  Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.

Authors:  Lisa S Andersson; Maria Wilbe; Agnese Viluma; Gus Cothran; Björn Ekesten; Susan Ewart; Gabriella Lindgren
Journal:  PLoS One       Date:  2013-09-23       Impact factor: 3.240

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