Reference : An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat T...
Scientific journals : Article
Life sciences : Veterinary medicine & animal health
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/202153
An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture.
English
Murgiano, Leonardo mailto [Université de Liège > Département des productions animales (DPA) > GIGA-R : Génomique animale >]
Waluk, Dominik P. [> >]
Towers, Rachel [> >]
Wiedemar, Natalie [> >]
Dietrich, Joelle [> >]
Jagannathan, Vidhya [> >]
Drogemuller, Michaela [> >]
Balmer, Pierre [> >]
Druet, Tom mailto [Université de Liège > Département des productions animales (DPA) > GIGA-R : Génomique animale >]
Galichet, Arnaud [> >]
Penedo, M. Cecilia [> >]
Muller, Eliane J. [> >]
Roosje, Petra [> >]
Welle, Monika M. [> >]
Leeb, Tosso [> >]
2016
G3: Genes, Genomes, Genetics
6
9
2963-70
Yes
International
2160-1836
2160-1836
United States
[en] Equus Caballus ; X-chromosome ; dermatology ; hair ; lines of Blaschko
[en] We investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed "brindle" by horse breeders. We propose the term "brindle 1 (BR1)" for this specific form of brindle. In some BR1 horses, the stripes were also differentially pigmented. Pedigree analyses were suggestive of a monogenic X-chromosomal semidominant mode of inheritance. Haplotype analyses identified a 5 Mb candidate region on chromosome X. Whole genome sequencing of four BR1 and 60 nonbrindle horses identified 61 private variants in the critical interval, none of them located in an exon of an annotated gene. However, one of the private variants was close to an exon/intron boundary in intron 10 of the MBTPS2 gene encoding the membrane bound transcription factor peptidase, site 2 (c.1437+4T>C). Different coding variants in this gene lead to three related genodermatoses in human patients. We therefore analyzed MBTPS2 transcripts in skin, and identified an aberrant transcript in a BR1 horse, which lacked the entire exon 10 and parts of exon 11. The MBTPS2:c1437+4T>C variant showed perfect cosegregation with the brindle phenotype in the investigated family, and was absent from 457 control horses of diverse breeds. Altogether, our genetic data, and previous knowledge on MBTPS2 function in the skin, suggest that the identified MBTPS2 intronic variant leads to partial exon skipping, and causes the BR1 phenotype in horses.
http://hdl.handle.net/2268/202153
10.1534/g3.116.032433
Copyright (c) 2016 Murgiano et al.

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