Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds

Genetic disorders in horses are mostly fatal or usually cause significant economic losses for breeders and owners. Here we studied a total of 177 Arabian, Barb and Arab-Barb horses from the Middle East and North Africa (MENA) using Sanger Sequencing and PCR-ACRS (polymerase chain reaction—artificially created restriction site) approaches to examine the genetic disorders in the studied horse breeds. We identified the genetic variations related to Cerebellar Abiotrophy (CA), Severe Combined Immunodeficiency (SCID) occurrence, and the studied population was free of the mutant allele determined Lavender Foal Syndrome (LFS). Overall, presented data showed that 15 of the studied horses are carriers of two genetic disorders; the investigated horse population showed that five Arabian horses were heterozygous for the CA-associated SNP (rs397160943). The SCID-deletion TCTCA within PRKDC was detected in ten horses (nine Arabian horses and one Arab-Barb horse). This investigation shows the importance of testing these breeds for genetic disorders to avoid further spread of deleterious variants

Rapid and easy detection of the five most common mutations in BRCA1 and BRCA2 genes in the Polish population using CAPS and ACRS-PCR methods

In this publication we present a fast method of diagnosing the most common polymorphisms of BRCA1 and BRCA2 genes in Poland – C61G [c.300T>G], C64R [c.190T>C], 4153delA [c.4035delA], 3819del5 [c.3700_3704delGTAAA], and C5972T [c.5744C>T]. Our procedure is based on the use of the cleaved amplified polymorphic sequences (CAPS) and artificially created restriction site (ACRS) PCR techniques. The precise selection of appropriate primer sequences and restriction enzymes enabled specific cuts of DNA fragments. The final quantity and size of the obtained products depend on the presence or the absence of the mutations. The obtained results are unambiguous and do not have to be confirmed by sequencing. The methods of detection of the C61G, C64R, 4153delA, 3819del5, and C5972T mutations in the BRCA1 and BRCA2 genes described by us do not require a sequencing process, which is more expensive, time-consuming and associated with numerous errors. The technique developed by us enables the use of simple electrophoresis for accurate detection of the presence or absence of a specific mutation. Our procedures are fast, precise and unambiguous.

The Cys83Gly amino acid substitution in feather keratin is associated with pigeon performance in long-distance races

The aim of this study was to investigate the association of the g.710T>G polymorphism in the keratin gene, which results in a cysteine to glycine amino acid change at position 83 (Cys83Gly) in feather keratin, with homing pigeon racing performance. A total of 123 homing pigeons were investigated. The data set used in this study consisted of scores from 17 short races (less than 400 km) and 11 long races (greater than 500 km) that took place in the 2011 and 2012 racing seasons (2589 race records in total). The genotyping of the g.710T>G polymorphism was performed using the artificially created restriction site-PCR assay. The T allele and the TT genotype were prevalent with frequencies of 0.658 and 0.447, respectively. The TT pigeons had the highest mean of ace points in the long races and in all races overall, while the GT birds scored the best in the short races. Nevertheless, the effect of the polymorphism was significant only in the long races (P = 0.0451), in which the pigeons carrying the TT genotype showed better racing performance in comparison with those carrying the GG genotype (P ≤ 0.05). In order to explain this phenomenon, several bioinformatics tools were employed to check for the possible consequences of the Cys83Gly substitution for feather keratin. The cysteine at position 83 was indicated to form a disulphide bond, while the Cys83Gly substitution was predicted to disturb the stability of the protein. However, the predictions preformed using the different tools were not entirely consistent. Nevertheless, the loss of the cysteine at position 83 of pigeon feather keratin may affect the structure of feathers, thus changing their biomechanical characteristics, and consequently, may influence the flying ability of pigeons.

Association Analysis between g.18873C>T and g.27522G>A Genetic Polymorphisms ofOPGand Bone Mineral Density in Chinese Postmenopausal Women

Several studies report that theOPGis an important candidate gene in the pathogenesis of osteoporosis. This study aimed to detect the potential association ofOPGgene polymorphisms with osteoporosis in postmenopausal women. We recruited 928 subjects containing 463 with primary postmenopausal osteoporosis and 465 healthy volunteers as controls. The BMD of neck hip, lumbar spine (L2–4), and total hip were assessed by dual-energy X-ray absorptiometry (DEXA). Through the created restriction site-polymerase chain reaction (CRS-PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and DNA sequencing methods, the g.18873C>T and g.27522G>A have been investigated. As for g.18873C>T, our data indicated that subjects with CC genotype have significantly higher BMD value than those of CT and TT genotypes (allPvalues < 0.05). As for g.27522G>A, the BMD values of subjects with GG genotype were significantly higher than those of GA and AA genotypes (allPvalues < 0.05). Our findings suggest that theOPGg.18873C>T and g.27522G>A genetic polymorphisms are associated with the decreased risk for osteoporosis in Chinese postmenopausal women.

Genetic background of aggressive behaviour in dogs

The background of aggression is very complicated and the basis of its occurrence has not been well explained yet. It is thought that tendency to aggressiveness is an effect of both environmental and genetic factors. Aggression is a very undesirable behavioural trait in dogs living with humans. The aim of this study was to determine the relationship between two polymorphisms: DRD4 intron II VNTR and C/T substitution in exon I HTR2B genes and aggressive behaviour in dogs. The VNTR polymorphism in the DRD4 gene was detected by agarose gel electrophoresis following PCR amplification, whereas C/T substitution in the HTR2B gene was analysed using amplification created restriction site-polymerase chain reaction (ACRS-PCR). A total of 121 dogs of several breeds were analyzed. All animals were classified based on a veterinary interview and observation in two groups: aggressive (n = 21) and non-aggressive (n = 100). Significant differences in DRD4 genotype frequencies between aggressive and non-aggressive dogs were observed (P < 0.05). The study provides a clear evidence of an association of VNTR polymorphism within intron II of the DRD4 gene with the occurrence of aggressive behaviour in dogs. Moreover, the findings give good justification for further research aimed at evaluation of the possibility of using this genetic marker in Marker-assisted Selection.