title: Fertility Assessment in Sorraia Stallions by Sperm-Fish and Fkbp6 Genotyping.
abstract: The Sorraia, a critically endangered indigenous Iberian horse breed, is characterized by low genetic variability, high rate of inbreeding, bad sperm quality and subfertility. Here, we studied 11 phenotypically normal but subfertile Sorraia stallions by karyotyping, sex chromosome sperm-FISH and molecular analysis of FKBP6 - a susceptibility locus for impaired acrosome reaction (IAR). The stallions had normal sperm concentration (>300 million cells/ml), but the numbers of progressively motile sperm (21%) and morphologically normal sperm (28%) were invariably low. All stallions had a normal 64,XY karyotype. The majority of sperm (89%) had normal haploid sex chromosome content, although 11% of sperm carried various sex chromosome aneuploidies. No correlation was found between the percentage of sperm sex chromosome abnormalities and inbreeding, sperm morphology or stallion age. Direct sequencing of FKBP6 exon 4 for SNPs g.11040315G>A and g.11040379C>A revealed that none of the stallions had the susceptibility genotype (A/A-A/A) for IAR. Instead, all animals had a G/G-A/A genotype - a testimony of low genetic variability. The findings ruled out chromosomal abnormalities and genetic predisposition for IAR as contributing factors for subfertility. However, low fertility of the Sorraia stallions could be partly attributed to relatively higher rate of sex chromosome aneuploidies in the sperm.
authors.affiliation: cE3c - Centre for Ecology, Evolution and Environmental Changes, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.|Department of Veterinary Integrative Biosciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
authors.forename: H J
authors.initials: HJ
authors.lastname: Kjöllerström
authors.affiliation: cE3c - Centre for Ecology, Evolution and Environmental Changes, Faculdade de Ciências, Universidade de Lisboa, Lisboa, Portugal.
authors.forename: M
authors.initials: M
authors.lastname: do Mar Oom
authors.affiliation: New Research Complex, Qatar University, Doha, Qatar.
authors.forename: B P
authors.initials: BP
authors.lastname: Chowdhary
authors.affiliation: Department of Veterinary Integrative Biosciences, College of Veterinary Medicine & Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
authors.forename: T
authors.identifier: http://orcid.org/0000-0003-2276-475X
authors.initials: T
authors.lastname: Raudsepp
mesh_terms: D020101:Acrosome Reaction / Q000235:genetics*; D000782:Aneuploidy; D000818:Animals; D056727:Endangered Species; D005298:Fertility / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses; D017404:In Situ Hybridization, Fluorescence / Q000662:veterinary; D007178:Inbreeding; D007248:Infertility, Male / Q000235:genetics / Q000662:veterinary*; D008297:Male; D012729:Sex Chromosome Aberrations / Q000662:veterinary; D013094:Spermatozoa / Q000648:ultrastructure*; D022021:Tacrolimus Binding Proteins / Q000235:genetics*
chemical_list: D022021:Tacrolimus Binding Proteins