Microsatellite polymorphism and its association with body weight and selected morphometrics of farm red fox (Vulpes vulpes L.)

Polymorphism of 30 canine-derived microsatellites was studied in a group of 200 red foxes kept on 2 Polish farms. 22 out of 30 microsatellites were selected to study association between marker genotypes and body weight (BW), body length (BL), body circumference (BC), tail length (TL), ear height (EH), length of the right front limb (FRLL), length of the right rear limb (RRLL), length of the right front foot (FRFL) and length of the right rear foot (RRFL). A total of 112 alleles and 243 genotypes were found at 22 autosomal microsatellite loci. Three monomorphic loci deemed as uninformative were excluded from the study. The association between marker genotypes and the studied traits was analysed using general linear model (GLM) procedure and least squares means (LSM). Linkage disequilibrium (LD) was estimated to assess non-random association between microsatellite loci. Out of 19 microsatellites studied four markers showed no association with the studied traits, three markers had a significant effect on one trait, and another three markers had significant effect on two traits. Among ten microsatellites with significant effect on four economically important traits (BW, BL, BC, TL) four were associated with two characters: marker FH2613 with BW and BC, marker FH2097withBL and BC, marker ZUBECA6 with BW and BC, whereas marker REN75M10 was associated with BL and TL. The strongest LD (r(2) ranged from 0.15 to 0.33) was estimated between nine loci with significant effect on economically important traits (BW, BL, BC, TL)

DGAT1 p.K232A polymorphism in dairy and dual purpose Italian cattle breeds

The aim of this study was to evaluate the allele frequency distribution at the DGAT1 p.K232A polymorphic site in seven Italian dairy and dual purpose cattle breeds. On the whole, 651 animals belonging Italian Holstein (116), Italian Brown (105), Italian Simmental (95), Valdostana Red Pied (95), Rendena (62), Reggiana (128) and Modenese (50) were genotyped by PCR-RFLP. Sequencing was carried out to confirm results of the genotyping protocol. The DGAT1 p.232K allele was identified in Italian Holstein (25.4%), Reggiana (17.2%), and with very low frequency in Italian Simmental, Valdostana Red Pied and Rendena (1%). In Italian Brown and Modenese, this allele was not detected. These results indicated that this polymorphic site can be considered for association studies only in Italian Holstein and Reggiana breeds. Deviation from Hardy-Weinberg equilibrium was observed in the Reggiana breed (P<0.01) in which there was an excess of heterozygous sires and absence of animals with the p.232KK genotype. This result should be further evaluated because the analysed sires represented almost all bulls available for artificial insemination in this breed. Comparison of allele frequencies at the DGAT1 locus with several other Holstein populations showed a wide range of variability, probably due to different selection strategies adopted

Supplementary Material for: A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; <b><i>SRY</i></b>-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the <b><i>SOX9</i></b> Gene

Testicular or ovotesticular disorder of sex development (DSD) in genetic females (78,XX; <i>SRY</i>-negative) has been reported quite frequently in numerous dog breeds and is usually diagnosed due to the presence of female external genitalia with an enlarged clitoris. The molecular background of this disorder, diagnosed also in human and other mammals, is not fully understood. However, it has recently been proposed that a copy number variation (CNV) in the region upstream of the <i>SOX9</i> gene is associated with it. We described a rare case of this disorder in a French Bulldog with abdominal testes and male external genitalia (a slightly malformed penis). FISH studies showed a female karyotype, lack of a translocation involving the Y chromosome, and a distinct size variation in the CNV region (CNVR) upstream of the <i>SOX9</i> gene, located on chromosome 9 (CFA9). A large FISH variant on a single CFA9 and a lack of the variant on its homologue was observed. Surprisingly, in the mother of this DSD dog, 2 normal-sized variants were identified which means that the CNV in the DSD dog was de novo. Our observations are in agreement with earlier suggestions that a high number of copies at the CNVR upstream of <i>SOX9</i> may be associated with this type of DSD