An intronic MBTPS2 variant results in a splicing defect in horses with brindle coat texture

G3: Genes, Genomes, Genetics

Volumn 6, Issue 9, 2016, Pages 2963-2970

  Murgiano, Leonardo ^a,b,c   Waluk, Dominik P ^b,d   Towers, Rachel ^e   Wiedemar, Natalie ^a,b   Dietrich, Joëlle ^a,b   Jagannathan, Vidhya ^a,b   Drögemüller, Michaela ^a,b   Balmer, Pierre ^b,d,f   Druet, Tom ^c   Galichet, Arnaud ^b,d   Penedo, M Cecilia ^g   Müller, Eliane J ^b,d,h,i   Roosje, Petra ^b,f   Welle, Monika M ^b,e   Leeb, Tosso ^a,b  

^a Institute of Genetics   (Switzerland)

^b Dermfocus   (Switzerland)

^c UNIVERSITY OF LIÈGE   (Belgium)

^d UNIVERSITY OF BERN   (Switzerland)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f Division of Clinical Research   (Switzerland)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h VETSUISSE FACULTY UNIVERSITY OF ZURICH   (Switzerland)

ⁱ UNIVERSITY OF BERN   (Switzerland)

Author keywords

Dermatology; Equus Caballus; Hair; Lines of Blaschko; X chromosome

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL GENETICS; ANIMAL STRUCTURES; ANIMAL TISSUE; ARTICLE; BACK; CONTROLLED STUDY; EXON; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HAIR; HAIR COLOR; HAIR FOLLICLE; HAIR TEXTURE; HAPLOTYPE; HORSE; INTRON; LEG; MALE; MBTPS2 GENE; MONOGENIC DISORDER; NECK; NONHUMAN; PEDIGREE ANALYSIS; PHENOTYPE; RNA SPLICING; STALLION; SURFACE AREA; X CHROMOSOMAL INHERITANCE; X CHROMOSOME; ANIMAL; GENETICS; GROWTH, DEVELOPMENT AND AGING; HUMAN; METABOLISM; PATHOLOGY; SKIN DISEASE;

MBTPS2 PROTEIN, HUMAN; METALLOPROTEINASE;

ANIMALS; EXONS; HAIR; HORSES; HUMANS; INTRONS; METALLOENDOPEPTIDASES; PHENOTYPE; RNA SPLICING; SKIN DISEASES; X CHROMOSOME;

EID: 84994323195     PISSN: None     EISSN: 21601836     Source Type: Journal    
DOI: 10.1534/g3.116.032433     Document Type: Article

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