Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

被引:12
作者
Reiter, Simone [1 ]
Wallner, Barbara [1 ]
Brem, Gottfried [1 ]
Haring, Elisabeth [2 ,3 ]
Hoelzle, Ludwig [4 ]
Stefaniuk-Szmukier, Monika [5 ]
Dlugosz, Boguslawa [5 ]
Piorkowska, Katarzyna [6 ]
Ropka-Molik, Katarzyna [6 ]
Malvick, Julia [7 ]
Penedo, Maria Cecilia T. [7 ]
Bellone, Rebecca R. [7 ,8 ]
机构
[1] Univ Vet Med Vienna, Inst Anim Breeding & Genet, A-1210 Vienna, Austria
[2] Museum Nat Hist, Cent Res Labs, A-1010 Vienna, Austria
[3] Univ Vienna, Dept Evolutionary Biol, A-1090 Vienna, Austria
[4] Univ Hohenheim, Inst Anim Sci, D-70599 Stuttgart, Germany
[5] Agr Univ Krakow, Dept Anim Reprod Anat & Genom, Al Mickiewicza 24-28, PL-30059 Krakow, Poland
[6] Natl Res Inst Anim Prod, Dept Anim Mol Biol, Krakowska 1, PL-32083 Balice, Poland
[7] Univ Calif Davis, Sch Vet Med, Vet Genet Lab, Davis, CA 95616 USA
[8] Univ Calif Davis, Sch Vet Med, Populat Hlth & Reprod, Davis, CA 95616 USA
关键词
PLOD; 1; warmblood fragile foal syndrome; Arabians; museum sample; REGIONAL DERMAL ASTHENIA; CONNECTIVE-TISSUE DISEASE; EHLERS-DANLOS-SYNDROME; HYPERELASTOSIS-CUTIS; QUARTER HORSES; EQUINE; HERDA;
D O I
10.3390/genes11121518
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder caused by a single nucleotide variant in the procollagen-lysine-2-oxoglutarate-5-dioxygenase 1 gene (PLOD1:c.2032G>A, p.Gly678Arg). Homozygosity for the PLOD1 variant causes an Ehler-Danlos-like syndrome, which has to date only been reported in warmblood breeds but the WFFS allele has been also detected in the Thoroughbred. To investigate the breed distribution of the WFFS allele, 4081 horses belonging to 38 different breeds were screened. In total, 4.9% of the horses representing 21 breeds carried the WFFS allele. The affected breeds were mainly warmbloods, with carrier frequency as high as 17% in the Hanoverian and Danish Warmblood. The WFFS allele was not detected in most non-warmblood breeds. Exceptions include WFFS carriers in the Thoroughbred (17/716), Haflinger (2/48), American Sport Pony (1/12), and Knabstrupper (3/46). The origin of the WFFS allele remains unknown. The Arabian breed and specifically the stallion Bairactar Or. Ar. (1813), whose offspring were reported to have a similar phenotype in the 19th century, were hypothesized as the origin. DNA from a museum sample of Bairactar Or. Ar. showed that he did not carry the mutated allele. This result, together with the genotypes of 302 Arabians, all homozygous for the reference allele, does not support an Arabian origin of the WFFS allele. Our extensive survey shows the WFFS allele to be of moderate frequency and concern in warmbloods and also in breeds where it may not be expected.
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页码:1 / 11
页数:11
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