Genet. Sel. Evol. 35 (2003) 119-133
DOI: 10.1051/gse:2002039

A mutation in the MATP gene causes the cream coat colour in the horse

Denis Mariat, Sead Taourit and Gérard Guérin

Laboratoire de génétique biochimique et de cytogénétique, Département de génétique animale, Institut national de la recherche agronomique, Centre de Recherche de Jouy, 78352 Jouy-en-Josas Cedex, France
(Received 12 August 2002; accepted 4 November 2002)

Abstract
In horses, basic colours such as bay or chestnut may be partially diluted to buckskin and palomino, or extremely diluted to cream, a nearly white colour with pink skin and blue eyes. This dilution is expected to be controlled by one gene and we used both candidate gene and positional cloning strategies to identify the "cream mutation". A horse panel including reference colours was established and typed for different markers within or in the neighbourhood of two candidate genes. Our data suggest that the causal mutation, a G to A transition, is localised in exon 2 of the MATP gene leading to an aspartic acid to asparagine substitution in the encoded protein. This conserved mutation was also described in mice and humans, but not in medaka.

Key words: horse / coat colour / underwhite / cream / MATP

Correspondence and reprints: Denis Mariat
    e-mail: mariat@diamant.jouy.inra.fr

© INRA, EDP Sciences 2003