TAILIEUCHUNG - Báo cáo sinh học: " A mutation in the MATP gene causes the cream coat colour in the horse"

Tuyển tập các báo cáo nghiên cứu về sinh học được đăng trên tạp chí sinh học thế giới đề tài: A mutation in the MATP gene causes the cream coat colour in the horse | 119 Genet Sei. Evol. 35 2003 119-133 INRA EDP Sciences 2003 DOI gse 2002039 Original article a mutation in the MATP gene causes the cream coat colour in the horse Denis Mariat Sead Taourit Gérard Guérin Laboratoire de génétique biochimique et de CYtogénétique Departement 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. horse coat colour underwhite cream MATP i. introduction In mammals coat colour is defined by two pigments in the skin and the hair the black eumelanin and red pheomelanin. The specific colour of an animal thus depends on the pattern the geographical distribution of the two pigments on the body and on the relative quantity of both pigments. If we do not consider the pattern of white the basic colours of horses are bay black brown and chestnut 32 . Many but not all colours derived from the four basic ones are diluted colours. A first locus dilutes the bay to wild bay black to smoky and chestnut to wild chestnut. A second independent locus dilutes bay to dun or buckskin pale body with dark mane tail and points depending if it acts on a wild bay or a bay chestnut to palomino a yellow

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