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Mutations in MITF and PAX3 cause splashed white and other white spotting phenotypes in horses
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نویسنده
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hauswirth r. ,haase b. ,blatter m. ,brooks s.a. ,burger d. ,drögemüller c. ,gerber v. ,henke d. ,janda j. ,jude r. ,magdesian k.g. ,matthews j.m. ,poncet p.-a. ,svansson v. ,tozaki t. ,wilkinson-white l. ,penedo m.c.t. ,rieder s. ,leeb t.
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منبع
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plos genetics - 2012 - دوره : 8 - شماره : 4
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چکیده
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During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes,the pigment-producing cells. alterations in this precisely regulated process can lead to white spotting patterns. white spotting patterns in horses are a complex trait with a large phenotypic variance ranging from minimal white markings up to completely white horses. the splashed white pattern is primarily characterized by an extremely large blaze,often accompanied by extended white markings at the distal limbs and blue eyes. some,but not all,splashed white horses are deaf. we analyzed a quarter horse family segregating for the splashed white coat color. genome-wide linkage analysis in 31 horses gave a positive lod score of 1.6 in a region on chromosome 6 containing the pax3 gene. however,the linkage data were not in agreement with a monogenic inheritance of a single fully penetrant mutation. we sequenced the pax3 gene and identified a missense mutation in some,but not all,splashed white quarter horses. genome-wide association analysis indicated a potential second signal near mitf. we therefore sequenced the mitf gene and found a 10 bp insertion in the melanocyte-specific promoter. the mitf promoter variant was present in some splashed white quarter horses from the studied family,but also in splashed white horses from other horse breeds. finally,we identified two additional non-synonymous mutations in the mitf gene in unrelated horses with white spotting phenotypes. thus,several independent mutations in mitf and pax3 together with known variants in the ednrb and kit genes explain a large proportion of horses with the more extreme white spotting phenotypes. © 2012 hauswirth et al.
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آدرس
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institute of genetics,vetsuisse faculty,university of bern,bern,switzerland,dermfocus,university of bern,bern, Switzerland, faculty of veterinary science,university of sydney,sydney, Australia, swiss national stud,alp-haras,avenches, Switzerland, department of animal science,cornell university,ithaca,ny, United States, swiss national stud,alp-haras,avenches,switzerland,swiss institute of equine medicine,vetsuisse faculty,alp-haras and university of bern,avenches, Switzerland, institute of genetics,vetsuisse faculty,university of bern,bern,switzerland,dermfocus,university of bern,bern, Switzerland, swiss institute of equine medicine,vetsuisse faculty,university of bern and alp-haras,bern, Switzerland, division of neurology,vetsuisse faculty,university of bern,bern, Switzerland, division of experimental clinical research,vetsuisse faculty,university of bern,bern, Switzerland, certagen gmbh,rheinbach, Germany, department of medicine and epidemiology,school of veterinary medicine,university of california davis,davis,ca, United States, school of molecular bioscience,university of sydney,sydney, Australia, swiss national stud,alp-haras,avenches, Switzerland, institute for experimental pathology,university of iceland,reykjavík, Iceland, department of molecular genetics,laboratory of racing chemistry,utsunomiya, Japan, school of molecular bioscience,university of sydney,sydney, Australia, veterinary genetics laboratory,school of veterinary medicine,university of california davis,davis,ca, United States, swiss national stud,alp-haras,avenches, Switzerland, institute of genetics,vetsuisse faculty,university of bern,bern,switzerland,dermfocus,university of bern,bern, Switzerland
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Authors
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