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Topic:Genes

Genes in horses are segments of DNA that encode the biological instructions necessary for the development, functioning, and reproduction of equine species. These genetic sequences influence a wide range of traits, including coat color, speed, endurance, and susceptibility to diseases. Genetic research in horses focuses on identifying specific genes and genetic markers associated with these traits, as well as understanding the inheritance patterns and genetic diversity within and between horse breeds. Studies in equine genetics contribute to breeding programs, disease prevention strategies, and the overall understanding of horse biology. This page compiles peer-reviewed research studies and scholarly articles that explore the identification, function, and implications of genes in equine health and performance.
Expression of Oxytocin/Neurophysin I and Oxytocinase in the Equine Conceptus from Day 8 to Day 21 Post-Ovulation.
Animals : an open access journal from MDPI    March 22, 2022   Volume 12, Issue 7 799 doi: 10.3390/ani12070799
Diel de Amorim M, Klein C, Foster R, Dong L, Lopez-Rodriguez MF, Card C.Leucyl and cystinyl aminopeptidase (LNPEP/oxytocinase) is an enzyme that metabolizes oxytocin in serum and tissues. The presence of oxytocin/neurophysin I (OXT), oxytocin and LNPEP and their relationship to other genes is unknown in the equine conceptus. Our objective was to characterize gene expression of LNPEP and OXT on D8, 10, 12, 14, 15, 16 and 21 conceptuses in relationship to other genes. Immunohistochemistry, western blot and liquid chromatography with tandem mass spectrometry (LC-MS/MS) were used for identification of oxytocin and LNPEP in D15, 16 and 18 conceptuses. LNPEP was increas...
The origin and domestication history of domestic horses and the domestication characteristics of breeds.
Yi chuan = Hereditas    March 22, 2022   Volume 44, Issue 3 216-229 doi: 10.16288/j.yczz.21-260
Fu M, Li Y.The horse (Equus caballus) was domesticated thousands of years after dog, cattle, pig, sheep, and goat. Importantly, it represents the domestic animal that mostly impacted the development of human civilization. Its excellent loading and moving ability prompted the changes from fixed farming mode into mobile sharing mode. Accordingly, its domestication history deserves considerable attention. So far, many issues have long been controversial, due to the extinction of the closest wild relatives and the dramatic reduction of genetic diversity. With the continuous development of sequencing technolo...
An analysis of skin thickness in the Dezhou donkey population and identification of candidate genes by RNA-seq.
Animal genetics    March 21, 2022   Volume 53, Issue 3 368-379 doi: 10.1111/age.13196
Wang M, Li H, Zhang X, Yang L, Liu Y, Liu S, Sun Y, Zhao C.The aim of the present study was to analyze the main factors that have a significant impact on skin thickness, and to further identify the genes and signaling pathways regulating skin growth by RNA-seq in Dezhou donkeys. Skin samples from different body regions of 15 slaughtered donkeys were obtained to study variations in skin thickness over the bodies. Skin thickness data for another 514 donkeys was obtained by minimally invasive skin sampling from the back, and measurements of the donkeys' body size traits and pedigree data were also collected. These data were used to analyze changes in ski...
The Immune Mechanisms of Severe Equine Asthma-Current Understanding and What Is Missing.
Animals : an open access journal from MDPI    March 16, 2022   Volume 12, Issue 6 744 doi: 10.3390/ani12060744
Simões J, Batista M, Tilley P.Severe equine asthma is a chronic respiratory disease of adult horses, occurring when genetically susceptible individuals are exposed to environmental aeroallergens. This results in airway inflammation, mucus accumulation and bronchial constriction. Although several studies aimed at evaluating the genetic and immune pathways associated with the disease, the results reported are inconsistent. Furthermore, the complexity and heterogeneity of this disease bears great similarity to what is described for human asthma. Currently available studies identified two chromosome regions (ECA13 and ECA15) a...
Zona pellucida glycoproteins: Relevance in fertility and development of contraceptive vaccines.
American journal of reproductive immunology (New York, N.Y. : 1989)    March 15, 2022   Volume 89, Issue 2 e13535 doi: 10.1111/aji.13535
Gupta SK.Mammalian zona pellucida (ZP) is composed of three to four glycoproteins, which plays an important role during fertilization. Mutations in the genes encoding zona proteins are reported in women with empty follicle syndrome, degenerated oocytes and those with an abnormal or no ZP further emphasizing their relevance during fertility. Immunization with either native or recombinant ZP glycoproteins/proteins leads to curtailment of fertility in various animal species. Observed infertility is frequently associated with ovarian pathology characterized by follicular atresia and degenerative changes in...
Comparative Genomic Analysis Reveals Intestinal Habitat Adaptation of Ligilactobacillus equi Rich in Prophage and Degrading Cellulase.
Molecules (Basel, Switzerland)    March 14, 2022   Volume 27, Issue 6 doi: 10.3390/molecules27061867
Li Y, Liu C, Liu Q, Liu W.Ligilactobacillus equi is common in the horse intestine, alleviates the infection of Salmonella, and regulates intestinal flora. Despite this, there have been no genomic studies on this species. Here, we provide the genomic basis for adaptation to the intestinal habitat of this species. We sequenced the genome of L. equi IMAU81196, compared this with published genome information from three strains in NCBI, and analyzed genome characteristics, phylogenetic relationships, and functional genes. The mean genome size of L. equi strains was 2.08 ± 0.09 Mbp, and the mean GC content was 39.17% ± 0.1...
A genome-wide association study of mare fertility in the Pura Raza Español horse.
Animal : an international journal of animal bioscience    March 2, 2022   Volume 16, Issue 3 100476 doi: 10.1016/j.animal.2022.100476
Laseca N, Demyda-Peyrás S, Valera M, Ramón M, Escribano B, Perdomo-González DI, Molina A.Despite the economic importance of fertility for the horse industry, few efforts have been made to achieve a better understanding of the genetic mechanisms underlying its control. This is probably due to the difficulty of obtaining reliable phenotypes and the complexity of modelling the environmental and management factors. This work is novel in that we propose to use reproductive efficiency (RE) as an indicator of mare fertility. To achieve this, we performed a genome-wide association study in the Pura Raza Español horse aimed at identifying genomic variants, regions, and candidate genes ass...
Gut Microbiome Characteristics in feral and domesticated horses from different geographic locations.
Communications biology    February 25, 2022   Volume 5, Issue 1 172 doi: 10.1038/s42003-022-03116-2
Ang L, Vinderola G, Endo A, Kantanen J, Jingfeng C, Binetti A, Burns P, Qingmiao S, Suying D, Zujiang Y, Rios-Covian D, Mantziari A, Beasley S....Domesticated horses live under different conditions compared with their extinct wild ancestors. While housed, medicated and kept on a restricted source of feed, the microbiota of domesticated horses is hypothesized to be altered. We assessed the fecal microbiome of 57 domestic and feral horses from different locations on three continents, observing geographical differences. A higher abundance of eukaryota (p < 0.05) and viruses (p < 0.05) and lower of archaea (p < 0.05) were found in feral animals when compared with domestic ones. The abundance of genes coding for microbe-...
The NF-κB-signalling pathway in mare’s endometrium infiltrated with the inflammatory cells.
Reproduction in domestic animals = Zuchthygiene    February 25, 2022   Volume 57, Issue 6 598-610 doi: 10.1111/rda.14099
Jasiński T, Zdrojkowski Ł, Kautz E, Juszczuk-Kubiak E, Ferreira-Dias G, Domino M.Endometritis is an important issue decreasing mares' fertility. In the case of endometritis, both inflammatory cells infiltration and proinflammatory molecules production are regulated by various cellular and gene regulatory mechanisms, including the nuclear factor-κB (NF-κB)-dependent pathway. NF-κB-signalling pathway has been recently studied in the equine endometrium in the context of endometrosis. Thus, this study aimed to determine gene transcription of NF-κB subunits (RelA; NF-κB1; NF-κB2), proinflammatory molecules (MCP-1; IL-6) and hyaluronan synthases (HAS 1; HAS 2; HAS 3) in en...
A Genome-Wide Scan for Signatures of Selection in Kurdish Horse Breed.
Journal of equine veterinary science    February 24, 2022   Volume 113 103916 doi: 10.1016/j.jevs.2022.103916
Nazari F, Seyedabadi HR, Noshary A, Emamjomeh-Kashan N, Banabazi MH.The genetic diversity and genomic regions being under putative natural selection in Kurdish horse population were studied. The samples from 72 horses were genotyped by using GGP Equine 70K SNP arrays. The Ne Slope (NeS) analyses revealed that a sharp decline in Ne has probably occurred around four generations ago, and high frequency of ROH with 2-4 Mbp in length suggested that the inbreeding has probably occurred around 20 generations ago. The effective population size (Ne) was 104 horses up to three generations ago and the average inbreeding (FROH) was 0.047(± 0.045). Using de-correlated com...
Tumor Cell Plasticity in Equine Papillomavirus-Positive Versus-Negative Squamous Cell Carcinoma of the Head and Neck.
Pathogens (Basel, Switzerland)    February 18, 2022   Volume 11, Issue 2 266 doi: 10.3390/pathogens11020266
Strohmayer C, Klang A, Kummer S, Walter I, Jindra C, Weissenbacher-Lang C, Redmer T, Kneissl S, Brandt S.Squamous cell carcinoma of the head and neck (HNSCC) is a common malignant tumor in humans and animals. In humans, papillomavirus (PV)-induced HNSCCs have a better prognosis than papillomavirus-unrelated HNSCCs. The ability of tumor cells to switch from epithelial to mesenchymal, endothelial, or therapy-resistant stem-cell-like phenotypes promotes disease progression and metastasis. In equine HNSCC, PV-association and tumor cell phenotype switching are poorly understood. We screened 49 equine HNSCCs for equine PV (EcPV) type 2, 3 and 5 infection. Subsequently, PV-positive versus -negative lesi...
Markers of equine placental differentiation: insights from gene expression studies.
Reproduction (Cambridge, England)    February 14, 2022   Volume 163, Issue 3 R39-R54 doi: 10.1530/REP-21-0115
Loux S, Robles M, Chavatte-Palmer P, de Mestre A.Development and the subsequent function of the fetal membranes of the equine placenta require both complex and precise regulation of gene expression. Advancements in recent years in bioinformatic techniques have allowed more extensive analyses into gene expression than ever before. This review starts by combining publically available transcriptomic data sets obtained from a range of embryonic, placental and maternal tissues, with previous knowledge of equine placental development and physiology, to gain insights into key gene families relevant to placentation in the horse. Covering the whole o...
Environmental constraints and pathologies that modulate equine placental genes and development.
Reproduction (Cambridge, England)    February 14, 2022   Volume 163, Issue 3 R25-R38 doi: 10.1530/REP-21-0116
Robles M, Loux S, de Mestre AM, Chavatte-Palmer P.Equine placental development is a long process with unique features. Implantation occurs around 40 days of gestation (dpo) with the presence of a transient invasive placenta from 25-35 to 100-120 dpo. The definitive, non-invasive placenta remains until term (330 days). This definitive placenta is diffuse and epitheliochorial, exchanging nutrients, gas and waste with the endometrium through microvilli, called microcotyledons. These are lined by an external layer of haemotrophic trophoblast. Moreover, histotrophic exchange remains active through the histotrophic trophoblast located along the are...
Fecal extract from obese horses induces an inflammatory response by murine macrophages in vitro.
American journal of veterinary research    February 2, 2022   Volume 83, Issue 5 419-425 doi: 10.2460/ajvr.21.02.0024
Roth P, Stanley J, Chamoun-Emanuelli A, Whitfield-Cargile C, Coleman M.To compare the inflammatory response of murine macrophages exposed to the enteric microbiome of obese horses versus nonobese horses. Methods: Fecal samples from 12 obese horses (body condition score ≥ 7/9) and 12 nonobese horses (body condition score 4 to 5/9) with similar dietary management. Methods: Fecal supernatant was prepared from frozen fecal samples. RAW 264.7 macrophage cells were exposed to the fecal extract. Inflammatory cytokine (interleukin-1β, tumor necrosis factor-α, and interleukin-6) gene expression was quantified via real-time quantitative reverse transcription PCR assay,...
Pregnancy-specific glycoproteins: evolution, expression, functions and disease associations.
Reproduction (Cambridge, England)    February 1, 2022   Volume 163, Issue 2 R11-R23 doi: 10.1530/REP-21-0390
Moore T, Williams JM, Becerra-Rodriguez MA, Dunne M, Kammerer R, Dveksler G.Pregnancy-specific glycoproteins (PSGs) are members of the immunoglobulin superfamily and are closely related to the predominantly membrane-bound CEACAM proteins. PSGs are produced by placental trophoblasts and secreted into the maternal bloodstream at high levels where they may regulate maternal immune and vascular functions through receptor binding and modulation of cytokine and chemokine expression and activity. PSGs may have autocrine and paracrine functions in the placental bed, and PSGs can activate soluble and extracellular matrix bound TGF-β, with potentially diverse effects on multip...
Effect of intrabronchial administration of autologous adipose-derived mesenchymal stem cells on severe equine asthma.
Stem cell research & therapy    January 21, 2022   Volume 13, Issue 1 23 doi: 10.1186/s13287-022-02704-7
Adamič N, Prpar Mihevc S, Blagus R, Kramarič P, Krapež U, Majdič G, Viel L, Hoffman AM, Bienzle D, Vengust M.Severe equine asthma (SEA) is a common chronic respiratory disease and a significant health and well-being problem in horses. Current therapeutic strategies improve pulmonary function and clinical signs in some horses, but in the long-term, return to full athletic function appears to be rare. The aim of this study was to assess the safety and the effect of intrabronchial administration of adipose-derived mesenchymal stem cells (AD-MSC) on pulmonary inflammatory and clinical parameters in horses with SEA. This was a randomized controlled trial. Twenty adult horses diagnosed with SEA were random...
Ticks of domestic animals in Lesotho: Morphological and molecular characterization.
Veterinary parasitology, regional studies and reports    January 20, 2022   Volume 29 100691 doi: 10.1016/j.vprsr.2022.100691
Mahlobo-Shwabede SIC, Zishiri OT, Thekisoe OMM, Bakkes D, Bohloa L, Molomo M, Makalo MJR, Mahloane GR, Mtshali MS.A total of 3311 tick specimens were randomly collected from domestic animals including cattle, sheep, goats, horses, donkeys, and dogs from Lesotho districts namely, Berea, Butha-Buthe, Leribe, Mafeteng, Maseru, Mohale's Hoek, Mokhotlong, Qacha's Nek, Quthing and Thaba Tseka. Tick species were identified morphologically and verified by amplification and sequencing of the CO1 and 18S rRNA genes. Nine species were identified under different genera namely, Haemaphysalis elliptica 0.1% (n = 2), Hyalomma rufipes 2.6% (n = 87), Hy. truncatum 1.2% (n = 41), Otobius megnini 13.6% (n = 451), Rh...
Collagen and Microvascularization in Placentas From Young and Older Mares.
Frontiers in veterinary science    January 4, 2022   Volume 8 772658 doi: 10.3389/fvets.2021.772658
Neto da Silva AC, Costa AL, Teixeira A, Alpoim-Moreira J, Fernandes C, Fradinho MJ, Rebordão MR, Silva E, Ferreira da Silva J, Bliebernicht M....In older mares, increasing collagen fibers (fibrosis) in the endometrium and oviduct predisposes to sub-fertility and infertility. In this study, (i) gene transcription of collagen (qPCR: COL1A1, COL1A2, COL3A1, COL5A1); (ii) total collagen protein (hydroxyproline); (iii) collagen distribution (Picrosirius red staining; polarized light microscopy); and (iv) microvascular density (Periodic acid-Schiff staining), were evaluated in mares' placenta, and related to mares age, and placenta and neonate weights. Samples were collected from the gravid horn, non-gravid horn, and body of the placenta fro...
Defining the specificity of recombinant human erythropoietin confirmation in equine samples by liquid chromatography-tandem mass spectrometry.
Drug testing and analysis    December 21, 2021   Volume 14, Issue 4 676-689 doi: 10.1002/dta.3210
Timms M, Steel R.The proteotypic human EPO peptides YLLEAK (T4), SLTTLLR (T11), TITADTFR (T14), and VYSNFLR (T17) are often used to confirm the presence of recombinant human EPO (rhEPO) in equine samples. Each of these peptides contains one or more isomeric leucine or isoleucine amino acids, raising the possibility that a simple leucine/isoleucine substitution could lead to a false identification when compared with a rhEPO reference standard. To examine this possibility variants of these four peptides were analysed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). These studies indicate that confir...
Molecular characterization of equine thymidine kinase 1 and preliminary evaluation of its suitability as a serum biomarker for equine lymphoma.
BMC molecular and cell biology    December 14, 2021   Volume 22, Issue 1 59 doi: 10.1186/s12860-021-00399-x
Wang L, Unger L, Sharif H, Eriksson S, Gerber V, Rönnberg H.Thymidine kinase 1 (TK1) plays a key role in the synthesis of deoxythymidine triphosphate (dTTP) and is thus important for DNA replication and cell proliferation. The expression of TK1 is highest during S-phase, and it is rapidly degraded after mitosis. In cancer cells, TK1 is upregulated, resulting in leakage of excess TK1 into the blood. Consequently, serum TK1 has been used as a diagnostic and prognostic cancer biomarker, mainly in human medicine. The aims of this work were to characterize equine TK1 and to evaluate its suitability as a serum biomarker for equine lymphoma. Results: Equine T...
Identification of genes associated with susceptibility to persistent breeding-induced endometritis by RNA-sequencing of uterine cytobrush samples.
Reproductive biology    December 6, 2021   Volume 22, Issue 2 100577 doi: 10.1016/j.repbio.2021.100577
Elshalofy A, Wagener K, Weber K, Blanco M, Bauersachs S, Bollwein H.This study aimed to investigate the susceptibility to persistent breeding-induced endometritis (PBIE). Cytobrush samples were collected from 81 broodmares 1-3 days before artificial insemination (AI). Susceptibility to PBIE was evaluated by the presence of ≥ 2 cm of intrauterine fluid 24 h after AI, besides the fertility was determined by a sonographic pregnancy diagnosis 2 weeks after ovulation. RNA expressions were compared between susceptible non-pregnant (SNP) mares (n=9) and resistant pregnant (RP) mares (n=9) as well as between susceptible pregnant (SP) mares (n=9) and susceptible non-...
Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds.
Genes    November 26, 2021   Volume 12, Issue 12 doi: 10.3390/genes12121893
Ayad A, Almarzook S, Besseboua O, Aissanou S, Piórkowska K, Musiał AD, Stefaniuk-Szmukier M, Ropka-Molik K.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 La...
Asthmatic Bronchial Matrices Determine the Gene Expression and Behavior of Smooth Muscle Cells in a 3D Culture Model.
Frontiers in allergy    November 26, 2021   Volume 2 762026 doi: 10.3389/falgy.2021.762026
Ben Hamouda S, Miglino MA, de Sá Schiavo Matias G, Beauchamp G, Lavoie JP.Asthma is associated with increased deposition and altered phenotype of airway smooth muscle (ASM) cells. However, little is known about the processes responsible for these changes. It has been suggested that alterations of the extracellular matrix (ECM) contribute to the remodeling of ASM cells in asthma. Three-dimensional matrices allow the study of complex cellular responses to different stimuli in a close-to-natural environment. Thus, we investigated the ultrastructural and genic variations of ASM cells cultured on acellular asthmatic and control bronchial matrices. We studied horses, as ...
Neospora caninum, a cause of abortion in donkeys (Equus asinus) in Iran.
Parasitology research    November 23, 2021   Volume 121, Issue 1 367-372 doi: 10.1007/s00436-021-07383-6
Rahmani SS, Malekifard F, Tavassoli M.Neospora caninum is an Apicomplexan parasite that can cause enormous economic losses due to abortions in cattle. The present study investigated the role of Neospora spp. infection in equine abortion in Iranian donkeys using molecular and phylogenetic analyses. Twenty-nine-aborted fetuses and 29 blood samples from their dams were collected from six different regions in the West and Northwest of Iran. They were tested for N. caninum by PCR at the Nc5 locus, followed by sequencing of five of the PCR products. The overall molecular prevalence was 34.5% in blood samples and the prevalence by DNA de...
Re-discovery of Trichophyton bullosum in North Africa as a cause of severe dermatophytosis in donkeys.
Folia microbiologica    November 10, 2021   Volume 67, Issue 2 265-275 doi: 10.1007/s12223-021-00930-9
Peano A, Arnoldi S, Čmoková A, Hubka V.This article reports the first verified cases of infection by Trichophyton bullosum in Africa since the description of the fungus, isolated in 1933 from the coat of horses in Tunisia and Mali. We found the fungus in cutaneous samples obtained from donkeys suffering from severe dermatitis with areas of alopecia and scaling in the surroundings of Cairo (Egypt). Fungal elements (arthroconidia and hyphae) were seen at the microscopy of material collected by skin scraping and digested in NaOH. Fungal colonies grown on various culture media were identified through PCR and sequencing of the ITS rDNA ...
Equine Endometrosis Pathological Features: Are They Dependent on NF-κB Signaling Pathway?
Animals : an open access journal from MDPI    November 4, 2021   Volume 11, Issue 11 3151 doi: 10.3390/ani11113151
Jasiński T, Zdrojkowski Ł, Kautz E, Juszczuk-Kubiak E, Ferreira-Dias G, Domino M.Endometrosis is an important mares' disease which considerably decreases their fertility. As classic endometrial classification methods might be insufficient for tissue pathological evaluation, further categorization into active/inactive and destructive/non-destructive types was developed by Hoffmann and others. This study aimed to compare NF-κB pathway genes transcription among histopathological types of endometrosis, following Hoffmann and co-authors' classification. Endometrial samples, collected postmortem from cyclic mares ( = 100) in estrus or diestrus, were classified histologically an...
Evidence from a Series of 104 Equine Sarcoids Suggests That Most Sarcoids in New Zealand Are Caused by Bovine Papillomavirus Type 2, although Both BPV1 and BPV2 DNA Are Detectable in around 10% of Sarcoids.
Animals : an open access journal from MDPI    October 29, 2021   Volume 11, Issue 11 3093 doi: 10.3390/ani11113093
Munday JS, Orbell G, Fairley RA, Hardcastle M, Vaatstra B.Equine sarcoids are common mesenchymal neoplasms of horses that are caused by cross-species infection by . While bovine papillomavirus (BPV) 1 and 2 are the most common causes, there are differences between countries regarding which of these BPV types cause the majority of sarcoids. Additionally, no causative PV can be detected in a subset of sarcoids, suggesting that other PV types could be rarer causes of these neoplasms. In the present study, consensus PCR primers and PCR primers specific for the five types currently known to cause mesenchymal neoplasia (BPV1, BPV2, BPV13, BPV14, and Ovis ...
Decoding the Equine Genome: Lessons from ENCODE.
Genes    October 27, 2021   Volume 12, Issue 11 doi: 10.3390/genes12111707
Peng S, Petersen JL, Bellone RR, Kalbfleisch T, Kingsley NB, Barber AM, Cappelletti E, Giulotto E, Finno CJ.The horse reference genome assemblies, EquCab2.0 and EquCab3.0, have enabled great advancements in the equine genomics field, from tools to novel discoveries. However, significant gaps of knowledge regarding genome function remain, hindering the study of complex traits in horses. In an effort to address these gaps and with inspiration from the Encyclopedia of DNA Elements (ENCODE) project, the equine Functional Annotation of Animal Genome (FAANG) initiative was proposed to bridge the gap between genome and gene expression, providing further insights into functional regulation within the horse ...
Equine vitiligo-like depigmentation in grey horses is related to genes involved in immune response and tumor metastasis.
BMC veterinary research    October 25, 2021   Volume 17, Issue 1 336 doi: 10.1186/s12917-021-03046-x
Druml T, Brem G, Velie B, Lindgren G, Horna M, Ricard A, Grilz-Seger G.In horses, the autoimmune disease vitiligo is characterized by the loss of melanocytes and results in patchy depigmentation of the skin around the eyes, muzzle and the perianal region. Vitiligo-like depigmentation occurs predominantly in horses displaying the grey coat colour and is observed at a prevalence level of 26.0-67.0% in grey horses compared with only 0.8-3.5% in non-grey horses. While the polygenetic background of this complex disease is well documented in humans, the underlying candidate genes for this skin disorder in horses remain unknown. In this study we aim to perform a genome-...
DPF3, A Putative Candidate Gene For Melanoma Etiopathogenesis in Gray Horses.
Journal of equine veterinary science    October 21, 2021   Volume 108 103797 doi: 10.1016/j.jevs.2021.103797
Druml T, Brem G, Horna M, Ricard A, Grilz-Seger G.Melanoma prevalence in gray horses reaches up to 50% and more. Several studies have documented a genetic melanoma predisposition which is referred to the 4.6 kb duplication in intron 6 of STX17 and its surrounding haplotype. However, the genetic background and mechanisms responsible for differences in etiopathogenesis of equine dermal melanomatosis still remain unknown. In the current study, we performed a genome wide association analysis in 141 Lipizzan horses and subsequently identified one candidate gene on chromosome 24 putatively involved in melanoma pathogenesis in gray horses. The assoc...
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