Characterization of different 5′‐untranslated exons of the ASIP gene in black‐and‐tan Doberman Pinscher and brindle Boxer dogs. (24th April 2012)

• Record Type: Journal Article
• Authors: Ciampolini, Roberta; Cecchi, Francesca; Spaterna, Andrea; Bramante, Assunta; Bardet, Sylvia M.; Oulmouden, Ahmad
• Is Part Of: Animal genetics. Volume 44:Number 1(2013:Feb.)
• Page Start: 114
• Page End: 117
• Publication Date: 2012-04-24
• Subjects: Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/j.1365-2052.2012.02364.x
• Languages: English
• ISSNs: 0268-9146

Abstract

<abstract abstract-type="main" id="age2364-abs-0001"> <title>Summary</title> <p>Differential expression of the <italic>ASIP</italic> gene and its interaction with <italic>MC1R</italic> have provided basic insight into pigment‐type switching in mammals. Here, we report the characterization of a specific red‐haired skin transcript and a specific black‐haired skin transcript in the <italic>ASIP</italic> gene in the black‐and‐tan Doberman Pinscher. It is also shown that the brindle‐haired skin of the Boxer exhibits a deregulated expression resulting in various 5′‐untranslated exons. Comparative sequence analysis revealed a short interspersed element and a poly(A) stretch inserted within the promoter region of the <italic>ASIP</italic> in the Boxer. Genotyping studies have shown that both insertions are also present in brindle and fawn animals of the Boxer and Great Dane breeds. Furthermore, we genotyped <italic>MC1R</italic> and <italic>K</italic> loci for their known variants that affect coat color in dogs. As expected, all animals were homozygotes (<italic>E<sup>M</sup></italic><italic>/</italic><italic>E<sup>M</sup></italic>) for the mask mutation, and fawn animals were <italic>k</italic><sup><italic>y</italic></sup><italic>/k</italic><sup><italic>y</italic></sup>. Unexpectedly, we found that all brindle animals were heterozygotes <italic>k</italic><sup><italic>B</italic></sup><italic>/k</italic><sup><italic>y</italic></sup>. Our results suggest that differential expression of <italic>ASIP</italic> determine pigment‐type switching in a <italic>MC1R</italic> and <italic>K</italic> allele‐dependent manner in dogs.</p> </abstract>