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Genotyping microsatellite markers represents a standard, relatively easy, and inexpensive method of assessing genetic diversity of complex genomic regions in various animal species, such as the major histocompatibility complex (MHC) and/or natural killer cell receptor (NKR) genes. MHC‐linked microsatellite markers have been identified and some of them were used for characterizing MHC polymorphism in various species, including horses. However, most of those were MHC class II markers, while MHC class I and III sub‐regions were less well covered. No tools for studying genetic diversity of NKR complex genomic regions are available in horses. Therefore, the aims of this work were to establish a panel of markers suitable for analyzing genetic diversity of the natural killer complex (NKC), and to develop additional microsatellite markers of the MHC class I and class III genomic sub‐regions in horses. Nine polymorphic microsatellite loci were newly identified in the equine NKC. Along with two previously reported microsatellites flanking this region, they constituted a panel of 11 loci allowing to characterize genetic variation in this functionally important part of the horse genome. Four newly described MHC class I/III‐linked markers were added to 11 known microsatellites to establish a panel of 15 MHC markers with a better coverage of the class I and class III sub‐regions. Major characteristics of the two panels produced on a group of 65 horses of 13 breeds and on five Przewalski's horses showed that they do reflect genetic variation within the horse species. [ABSTRACT FROM AUTHOR]

Morbilliviruses, such as Cetacean morbillivirus (CeMV) or Phocine distemper virus (PDV), represent a growing threat for marine mammals on both hemispheres. Because free-ranging animal populations strongly rely on natural resistance mechanisms, innate immunity-related genes and virus cell entry receptor genes may represent key factors involved in susceptibility to CeMV in Cetaceans. Using the next generation sequencing technology, we have sequenced 11 candidate genes in two model species, Stenella coeruleoalba and Phocoena phocoena. Suitable single nucleotide polymorphism markers of potential functional importance, located in genes coding for basigin ( BSG, CD147), the signaling lymphocyte activating molecule ( SLAMF1), the poliovirus-related receptor-4 ( NECTIN4, PVRL4), toll-like receptors 3, 7, 8 ( TLR3, TLR7, TLR8), natural resistance-associated macrophage protein ( SLC11A1) and natural cytotoxicity triggering receptor 1 ( NCR1), were identified in each model species, along with MHC-DQB haplotypes unique for each species. This set of molecular markers represents a potentially useful tool for studying host genetic variation and susceptibility to morbillivirus infection in Cetaceans as well as for studying functionally important genetic diversity of selected Cetacean populations. [ABSTRACT FROM AUTHOR]

In previous work, we found significant associations of horse polymorphic microsatellite and immunity-related (IR) gene markers with Rhodococcus equi infection of foals. Here, a statistically significant association between a single nucleotide polymorphism (SNP) within the interleukin 7 receptor-encoding gene ( IL7R) with high R. equi burden in transtracheal aspirates was found (Fisher’s F = 0.043, odds ratio: 8.00, 95% confidence interval: 1.127–56.795). Further positional and/or functional candidate genes investigated TLR2, IL13, IL17A, IL28R, TACE/ADAM 17 and GBP1, were not associated with infection in this study. SNPs analysed were found by sequencing and appropriate restriction fragment length polymorphism markers were developed. Their associations with R. equi infection were tested by genotyping thoroughbred foals from the original study. The association was confirmed by analysing genotypes composed with genes previously reported to be associated with R. equi infection in the same group. [ABSTRACT FROM AUTHOR]

Introduction: Hypophosphatasia is a rare hereditary metabolic disease caused by the deficit of tissue nonspecific serum alkaline phosphatase (TNSALP). The incidence of all forms of hypophosphatasia is estimated at around 1:100 000 liveborns. Recent studies estimate the prevalence of mild autosomaldominant form at 1: 6370. During prenatal developement, this disease may cause severe damage of a fetus and even intrauterine death. During childhood, this disease manisfests with defects of mineralization with rickets signs. The following hypercalcaemia and hypercalciuria may even lead to death. In adults, the main manifestations are osteomalatia, skeletal deformities, fractures and early arthritis. Material and methods: We present the clinical course of hypophosphatasia in two sisters and the clinical features in an unrelated adult woman. Extremely low values of TNSALP were observed (0.06 μkat/l; 0.08 µkat/l; 0.03 µkat/l). To find causal mutations, sequencing of ALPL gene was performed. Results: Diagnosis of hypophosphatasia was confirmed in all three patients. We found a 436G>A and a 1183insT mutation in the adult woman. Very mild phenotype was observed and both mutations were previously not described. In silico 3D modeling of TNSALP was used to demonstrate the mutation causality. Segregation analysis was useful for genetic counselling in affected family. We found a 299C>T and a 571G>A mutation in two sisters, who were the first documented cases with childhood form of the disease in Slovakia. Conclusion: Defects of mineralization of bones and teeth (in the presence of low or moderately decrased values of ALP) is a reason for considering hypophosphatasia. The molecular genetic diagnostics opens the possibility of determinig the molecular cause of hypophosphatasia in Slovak patients. The proper diagnosis is essential for an adequate therapy management, like avoiding the treatment with biphosphonates and excess of vitamin D, where higher risk of pseudofractures in adult patients with osteomalatia was described. After determining the causal mutation, genetic counselling and eventual prenatal genetic testing are recommended. [ABSTRACT FROM AUTHOR]