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Topic:Genetics

Genetics in horses encompasses the study of hereditary traits and the genetic makeup that influences various characteristics and health conditions in equine populations. This field involves the analysis of genes and their functions, inheritance patterns, and the impact of genetic variations on traits such as coat color, performance ability, and susceptibility to diseases. Research in equine genetics employs techniques such as genome mapping, sequencing, and genetic testing to identify specific genes and mutations associated with these traits. This page gathers peer-reviewed research studies and scholarly articles that explore the genetic basis of equine traits, the methodologies used in genetic research, and the implications for breeding, health management, and conservation of horse breeds.
Ancient genomes shed light on dark horses.
Nature reviews. Genetics    May 12, 2019   Volume 20, Issue 7 374-375 doi: 10.1038/s41576-019-0136-0
Wrighton KH.No abstract available
Molecular evidence of bacteria in Melophagus ovinus sheep keds and Hippobosca equina forest flies collected from sheep and horses in northeastern Algeria.
Comparative immunology, microbiology and infectious diseases    May 10, 2019   Volume 65 103-109 doi: 10.1016/j.cimid.2019.05.010
Boucheikhchoukh M, Mechouk N, Benakhla A, Raoult D, Parola P.The sheep ked, Melophagus ovinus, and the forest fly, Hippobosca equina, are parasitic dipteran insects of veterinary importance. As hematophagous insects, they might be considered as potential vectors of diseases which may be transmissible to humans and animals. The purpose of this study was to present initial primary data about these two species in Algeria. To do so, we conducted a molecular survey to detect the presence of bacterial DNA in flies collected in Algeria. A total of 712 flies including, 683 Melophagus ovinus and 29 Hippobosca equina were collected from two regions in northeaster...
MHC haplotype diversity in Icelandic horses determined by polymorphic microsatellites.
Genes and immunity    May 9, 2019   Volume 20, Issue 8 660-670 doi: 10.1038/s41435-019-0075-y
Holmes CM, Violette N, Miller D, Wagner B, Svansson V, Antczak DF.The Icelandic horse has been maintained as a closed population in its eponymous homeland for many generations, with no recorded introductions of new horses of any breed since the year 1000 CE. Here we determined the diversity of major histocompatibility complex (MHC) haplotypes in 156 Icelandic horses from two groups, based on a panel of 12 polymorphic intra-MHC microsatellites tested in families of various composition. We identified a total of 79 MHC haplotypes in these two groups, including one documented intra-MHC recombination event from a total of 147 observed meioses. None of these MHC h...
Chinese Mongolian horses may retain early domestic male genetic lineages yet to be discovered.
Animal genetics    May 9, 2019   Volume 50, Issue 4 399-402 doi: 10.1111/age.12780
Han H, Wallner B, Rigler D, MacHugh DE, Manglai D, Hill EW.The Mongolian horse represents one of the most ancient extant horse populations. In this study we determined the male-specific region of the Y chromosome (MSY) haplotype distribution in 60 Chinese Mongolian horses representing five distinct populations. Cosmopolitan male lineages were predominant in horses from one improved (Sanhe), one Chinese Mongolian subtype (Baicha Iron Hoof) and one indigenous (Abaga Black) population. In contrast, autochthonous Y chromosome diversity was evident among the two landrace populations (Wushen and Wuzhumuqin), as the majority of their MSY haplotypes were situ...
Intrafollicular oocyte transfer in the horse: effect of autologous vs. allogeneic transfer and time of administration of ovulatory stimulus before transfer.
Journal of assisted reproduction and genetics    May 9, 2019   Volume 36, Issue 6 1237-1250 doi: 10.1007/s10815-019-01460-7
Martinez de Andino EV, Brom-de-Luna JG, Canesin HS, Rader K, Resende HL, Ripley AM, Love CC, Hinrichs K.To assess meiotic and developmental competence after transfer of immature cumulus-oocyte complexes (COCs) to the preovulatory follicles of mares (intrafollicular oocyte transfer (IFOT)). Methods: In Experiment 1, mares received an ovulatory stimulus at IFOT. Thirty hours later, COCs were recovered from the follicle, and mature oocytes underwent ICSI and embryo culture. In Experiments 2 and 3, autologous vs. allogeneic COCs were used. The mares were inseminated and embryos were recovered. In Experiment 3, the ovulatory stimulus was administered 9 h (autologous) and 15 h (allogeneic) before IF...
Chondrogenic expression and DNA methylation patterns in prolonged passages of chondrocyte cell lines of the horse.
Gene    May 8, 2019   Volume 707 58-64 doi: 10.1016/j.gene.2019.05.018
Ząbek T, Witarski W, Semik-Gurgul E, Szmatoła T, Kowalska K, Bugno-Poniewierska M.We investigated the activity of chondrogenic markers and variation of methylation patterns in equine cartilaginous cells cultivated in monolayer. The transcriptional and epigenetic effect of the long-term culture of chondrocytes has been evaluated using several passages of chondrocyte cell-lines derived from equine articular cartilage. Using 3 genes as endogenous control we tested the expression of 7 genes important for different stages of chondrocyte differentiation and maturation. CpG islands in RUNX3 locus were inspected for the evaluation of differential methylation state of passaged cell-...
Outbreaks of a Methicillin-Resistant Staphylococcus aureus Clone ST398-t011 in a Hungarian Equine Clinic: Emergence of Rifampicin and Chloramphenicol Resistance After Treatment with These Antibiotics.
Microbial drug resistance (Larchmont, N.Y.)    May 8, 2019   Volume 25, Issue 8 1219-1226 doi: 10.1089/mdr.2018.0384
Albert E, Biksi I, Német Z, Csuka E, Kelemen B, Morvay F, Bakos Z, Bodó G, Tóth B, Collaud A, Rossano A, Perreten V.Between July 2011 and May 2016, a total of 40 Staphylococcus aureus strains originating from 36 horses were confirmed as methicillin resistant (methicillin-resistant Staphylococcus aureus [MRSA]) in a university equine clinic. An additional 10 MRSA strains from 36 samples of clinic workers were obtained in October 2017. The first equine isolate represented the sequence type ST398, spa-type t011, and SCCmec IV. This isolate was resistant to a wide spectrum of antimicrobial agents. MRSA strains with the same genotype and with very similar resistance profiles were isolated on 21 more occasions fr...
Warmblood Fragile Foal Syndrome causative single nucleotide polymorphism frequency in Warmblood horses in Brazil.
Veterinary journal (London, England : 1997)    May 4, 2019   Volume 248 101-102 doi: 10.1016/j.tvjl.2019.05.002
Dias NM, de Andrade DGA, Teixeira-Neto AR, Trinque CM, Oliveira-Filho JP, Winand NJ, Araújo JP, Borges AS.Warmblood Fragile Foal Syndrome (WFFS) is an autosomal recessive genetic disorder caused by a mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1) gene, associated with collagen biosynthesis. WFFS causes lesions and malformations of the skin in neonatal foals, and abortion. The objective of this study was to investigate the allelic frequency of the single nucleotide polymorphism (SNP) c.2032G>A in the PLOD1 gene in warmblood samples from Brazil. Of the 374 Warmblood horses tested, 41 animals (11%) were identified as heterozygous for the WFFS SNP and 333 (89%) were homozyg...
Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series.
Cell    May 2, 2019   Volume 177, Issue 6 1419-1435.e31 doi: 10.1016/j.cell.2019.03.049
Fages A, Hanghøj K, Khan N, Gaunitz C, Seguin-Orlando A, Leonardi M, McCrory Constantz C, Gamba C, Al-Rasheid KAS, Albizuri S, Alfarhan AH....Horse domestication revolutionized warfare and accelerated travel, trade, and the geographic expansion of languages. Here, we present the largest DNA time series for a non-human organism to date, including genome-scale data from 149 ancient animals and 129 ancient genomes (≥1-fold coverage), 87 of which are new. This extensive dataset allows us to assess the modern legacy of past equestrian civilizations. We find that two extinct horse lineages existed during early domestication, one at the far western (Iberia) and the other at the far eastern range (Siberia) of Eurasia. None of these contr...
Generation and miRNA Characterization of Equine Induced Pluripotent Stem Cells Derived from Fetal and Adult Multipotent Tissues.
Stem cells international    May 2, 2019   Volume 2019 1393791 doi: 10.1155/2019/1393791
Pessôa LVF, Pires PRL, Del Collado M, Pieri NCG, Recchia K, Souza AF, Perecin F, da Silveira JC, de Andrade AFC, Ambrosio CE, Bressan FF....Pluripotent stem cells are believed to have greater clinical potential than mesenchymal stem cells due to their ability to differentiate into almost any cell type of an organism, and since 2006, the generation of patient-specific induced pluripotent stem cells (iPSCs) has become possible in multiple species. Objective: We hypothesize that different cell types respond differently to the reprogramming process; thus, the goals of this study were to isolate and characterize equine adult and fetal cells and induce these cells to pluripotency for future regenerative and translational purposes. Metho...
Equine fetal adrenal, gonadal and placental steroidogenesis.
Reproduction (Cambridge, England)    May 1, 2019   Volume 157, Issue 5 X1 doi: 10.1530/REP-17-0239e
Legacki EL, Bal BA, Corbin CJ, Loux SC, Scoggin KE, Stanley SD, Conley AJ.The authors apologize for errors in Figure 6 of their article published in the October 2017 issue of Reproduction (vol 154 iss 4 pp 445–454). The authors explain that the addition of data (Figure 6) on steroid concentrations in the chorioallantois to their manuscript on fetal adrenal and fetal gonadal steroids during development of the equine fetus was made in response to reviewer comments. However, in compiling, summarizing and graphing the data, the wrong units were used in the final figure. The manuscript as published represents the data in Figure 6 as “ng/g”, when in fact they are ...
How do GTR and GBR Differ? A Periodontitis Case Treated Using an Equine-derived, Enzyme-deantigenic, Collagenpreserving Bone Graft, and Collagen Membranes.
The journal of contemporary dental practice    May 1, 2019   Volume 20, Issue 5 639-644 
Tizzoni R, Tizzoni M.The present case illustrates how a tooth, which had a highly questionable prognosis, was preserved by carrying out a periodontal regeneration surgery. Background: Treatment of periodontitis involves a careful consideration of all the factors that may allow the achievement of a favorable outcome; among those, the skillful use of guided tissue regeneration (GTR) membranes is of paramount importance. Methods: A 39-year-old patient presented with a mobile central upper incisor due to severe periodontitis and was treated according to GTR principles using a collagen membrane. A collagen-preserving b...
Genomic characterization of orthobunyavirus of veterinary importance in America.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases    April 30, 2019   Volume 73 205-209 doi: 10.1016/j.meegid.2019.04.030
During 2013, in Argentina, three new isolates of serogroup Bunyamwera virus (genus Orthobunyavirus, family Peribunyaviridae) were recovered from two horses with encephalitis, and from an aborted equine fetus. In the present study, we report the complete genome sequence, genetic characterization, and phylogenetic analysis of three new strains isolated in Argentina to clarifying their relationship within the Bunyamwera serogroup virus and to investigate the evolutionary history of viruses with segmented genomes.
Adipose-Derived Stromal Vascular Fraction and Cultured Stromal Cells as Trophic Mediators for Tendon Healing.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    April 29, 2019   Volume 37, Issue 6 1429-1439 doi: 10.1002/jor.24307
Polly SS, Nichols AEC, Donnini E, Inman DJ, Scott TJ, Apple SM, Werre SR, Dahlgren LA.Adipose-derived stromal vascular fraction (SVF) is a heterogeneous population of cells that yields a homogeneous population of plastic-adherent adipose tissue-derived stromal cells (ASC) when culture-expanded. SVF and ASC have been used clinically to improve tendon healing, yet their mechanism of action is not fully elucidated. The objective of this study was to investigate the potential for ASC to act as trophic mediators for tendon healing. Flexor digitorum superficialis tendons and adipose tissue were harvested from adult horses to obtain SVF, ASC, and tenocytes. Growth factor gene expressi...
Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland.
Veterinary journal (London, England : 1997)    April 27, 2019   Volume 248 71-73 doi: 10.1016/j.tvjl.2019.04.012
Bugno-Poniewierska M, Stefaniuk-Szmukier M, -Kajtoch AP, Fornal A, Piórkowska K, Ropka-Molik K.The highly selective breeding of Arabian horses results in inbreeding depression and genetic disorders, thereby causing significant economic loss. The Polish population of Arabians has a great impact on many breeding programmes. The aim of the current study was to monitor genetic variants involved in the most common genetic disorders of this breed. A total of 808 elite Arabian horses were screened for cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID) and lavender foal syndrome (LFS) genetic disorders by Sanger sequencing and allelic discrimination methods. The investigated po...
Selection signatures in four German warmblood horse breeds: Tracing breeding history in the modern sport horse.
PloS one    April 25, 2019   Volume 14, Issue 4 e0215913 doi: 10.1371/journal.pone.0215913
Nolte W, Thaller G, Kuehn C.The study of selection signatures helps to find genomic regions that have been under selective pressure and might host genes or variants that modulate important phenotypes. Such knowledge improves our understanding of how breeding programmes have shaped the genomes of livestock. In this study, 942 stallions were included from four, exemplarily chosen, German warmblood breeds with divergent historical and recent selection focus and different crossbreeding policies: Trakehner (N = 44), Holsteiner (N = 358), Hanoverian (N = 319) and Oldenburger (N = 221). Those breeds are nowadays bred for athlet...
Working under conditions of social vulnerability: Depression among Latina/o immigrant horse workers.
Cultural diversity & ethnic minority psychology    April 25, 2019   Volume 26, Issue 1 54-60 doi: 10.1037/cdp0000276
Negi NJ, Swanberg JE, Clouser JM, Harmon-Darrow C.The American agricultural industry is heavily reliant on Latina/o workers, yet there is scant understanding regarding the mental health of this population. This gap in the literature is glaring as Latina/o farmworkers are a highly vulnerable group who experience high rates of occupational risks and health hazards. This study is the first, to our knowledge, to examine individual, social and work-related correlates of depression among Latina/o horse workers. Methods: A community survey ( = 225) administered by lay health workers was implemented with Latina/o horse workers who were employed in th...
Genetic analysis of Streptococcus equi subsp. equi isolated from horses imported into Japan.
The Journal of veterinary medical science    April 24, 2019   Volume 81, Issue 6 924-927 doi: 10.1292/jvms.18-0656
Kasuya K, Tanaka N, Oshima F, Fujisawa N, Saito M, Tagami K, Niwa H, Sasai K.Strangles is a commonly diagnosed and important infectious disease of equids worldwide, caused by Streptococcus equi subsp. equi. We determined the SeM genotypes of S. equi isolated from imported horses at the Japanese border within the past 8 years, which allowed us to classify 12 strains isolated from these horses from each exporter into four allelic groups. These alleles were different from the alleles of past isolates found in Japan. Furthermore, four strains classified into the same allele were isolated from horses from one exporter over several years. In this study, S. equi isolates from...
A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses.
Animal genetics    April 21, 2019   Volume 50, Issue 3 271-274 doi: 10.1111/age.12790
Holl HM, Pflug KM, Yates KM, Hoefs-Martin K, Shepard C, Cook DG, Lafayette C, Brooks SA.Variations in the SLC45A2 gene are responsible for the dilution phenotypes cream and pearl in domestic horses. Cream dilution is inherited in an incomplete dominant manner, diluting only red in the heterozygous state but both red and black pigments when two alleles are present. The pearl dilution is recessive and dilutes only the red and black pigment in the homozygous state or when paired with a cream allele. Horses that inherit one copy of pearl (C ) and one copy of the dominant cream allele (C ) display a dilution phenotype similar to that of homozygous cream, suggesting that pearl is the ...
Genetic evaluation of bovine papillomavirus types detected in equine sarcoids in Poland.
Polish journal of veterinary sciences    April 19, 2019   Volume 22, Issue 1 25-29 doi: 10.24425/pjvs.2018.125602
Szczerba-Turek A, Siemionek J, Ras A, Bancerz-Kisiel A, Platt-Samoraj A, Lipczynska-Ilczuk K, Szweda W.Equine sarcoids are the most common neoplasms in horses. Bovine papilloma- virus type 1 (BPV-1) is the main viral type identified in equine sarcoids in Europe. Objective: The aim of the present study was to genetically evaluate BPV types based on DNA analyses of the CDS of the L1 gene. The presence of BPV DNA was confirmed by Degenerate Oligonucleotide-Primed Polymerase Chain Reaction (DOP PCR) with FAP59/FAP64 consensus primers. Results: The DNA was detected in 21/40 (52.5%) of clinically diagnosed sarcoids. More than half of 14 isolates (66.7%) shared 100% homology with BPV-1 Deltapapillomav...
Plasticity of endometrial epithelial and stromal cells-A new approach towards the pathogenesis of equine endometrosis.
Reproduction in domestic animals = Zuchthygiene    April 17, 2019   Volume 54, Issue 6 835-845 doi: 10.1111/rda.13431
Minkwitz C, Schoon HA, Zhang Q, Schöniger S.Equine endometrosis, a frequent cause of subfertility, is characterized by periglandular fibrosis, and no treatment exists. Endometrial biopsies not only contain diseased glands, but also contain healthy glands and stroma. Myoepithelial (ME) and myofibroblastic (MF) markers are calponin, smooth muscle actin (SMA), desmin and glial fibrillary acidic protein (GFAP). Epithelial vimentin expression indicates epithelial to mesenchymal transition (EMT). The aim of this immunohistochemical study was to investigate whether biopsies with endometrosis express MF and ME markers and vimentin. Compared to ...
Modelling the development of anthelmintic resistance in cyathostomin parasites: The importance of genetic and fitness parameters.
Veterinary parasitology    April 17, 2019   Volume 269 28-33 doi: 10.1016/j.vetpar.2019.04.007
Sauermann CW, Nielsen MK, Luo D, Leathwick DM.Previously described models for the free-living and parasitic phases of the cyathostomin life-cycle were combined into a single model for the complete life-cycle. The model simulates a single free-living population on pasture utilising parasite egg output from the horses and localised temperature and rainfall data to estimate infective larval density on herbage. Multiple horses of different ages are possible, each with an individualised anthelmintic treatment programme. Genotypes for anthelmintic resistance are included allowing for up to three resistance genes with 2 alleles each. Because lit...
Age related and seasonal changes of plasma concentrations of insulin-like peptide 3 and testosterone from birth to early-puberty in Thoroughbred male horses.
Theriogenology    April 16, 2019   Volume 132 212-217 doi: 10.1016/j.theriogenology.2019.04.014
Hannan MA, Murase H, Sato F, Tsogtgerel M, Kawate N, Nambo Y.The peripheral blood concentrations of insulin-like peptide 3 (INSL3) have been detected in many mammalian species, but the level of INSL3 in horse remains unknown. The objectives were to develop a time-resolved fluorescence immunoassay (TRFIA) to detect INSL3 concentrations from horse blood as well as to determine the age-related and seasonal changes of plasma concentrations of INSL3 and testosterone from birth to early-puberty in Thoroughbred male horse (n = 11). Monthly blood sample and measurement of body weight, height, chest and cannon bone size were done from birth until 16 mo. Th...
Double ovarian tumour in the mare: Case report.
Reproduction in domestic animals = Zuchthygiene    April 15, 2019   Volume 54, Issue 6 912-916 doi: 10.1111/rda.13433
Pinna AE, Okada CTC, Ferreira CSC, Campos DG, Possidente KS, de Cássia C L Morais R, Oliveira M, Salomão MC, Hataka A.Ovarian tumours in mares represent 2.5% to 6% of the most frequent neoplasms found in the equine species, with a higher chance of benignity. This study aims to describe a case of two different tumours found in the same ovary of a mare that presented clinical signs of suppressed oestrous cycle during 5 years. After unilateral ovariectomy, the ovary was sent to the histopathology examination which determined a mixed tumour of granulosa cell and leiomyosarcoma. After treatment, the mare returned to oestrus and got pregnant in the next season.
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for ocular squamous cell carcinoma in Belgian horses.
Equine veterinary journal    April 15, 2019   Volume 52, Issue 1 34-40 doi: 10.1111/evj.13116
Knickelbein KE, Lassaline ME, Singer-Berk M, Reilly CM, Clode AB, Famula TR, Michau TM, Bellone RR.Belgian horses are commonly affected with ocular squamous cell carcinoma (SCC), the most common cancer of the equine eye. A missense mutation in damage-specific DNA binding protein 2 (DDB2 c.1013C>T, p.Thr338Met) has been established as a recessive genetic risk factor for ocular SCC in the Haflinger breed. A sample of Belgian horses with unknown SCC phenotype was shown to possess this variant at a similar frequency to the Haflinger breed. Retrospective studies indicate that chestnut coat colour may predispose to the development of SCC. Objective: To determine if DDB2 c.1013C>T is a risk ...
The horse Y chromosome as an informative marker for tracing sire lines.
Scientific reports    April 15, 2019   Volume 9, Issue 1 6095 doi: 10.1038/s41598-019-42640-w
Felkel S, Vogl C, Rigler D, Dobretsberger V, Chowdhary BP, Distl O, Fries R, Jagannathan V, Janečka JE, Leeb T, Lindgren G, McCue M, Metzger J....Analysis of the Y chromosome is the best-established way to reconstruct paternal family history in humans. Here, we applied fine-scaled Y-chromosomal haplotyping in horses with biallelic markers and demonstrate the potential of our approach to address the ancestry of sire lines. We de novo assembled a draft reference of the male-specific region of the Y chromosome from Illumina short reads and then screened 5.8 million basepairs for variants in 130 specimens from intensively selected and rural breeds and nine Przewalski's horses. Among domestic horses we confirmed the predominance of a young'c...
Intestinal ciliates (Alveolata, Ciliophora) in Brazilian domestic horses (Equus caballus L.) and a review on the ciliate communities associated with horses around the world.
Zootaxa    April 15, 2019   Volume 4585, Issue 3 zootaxa.4585.3.4 doi: 10.11646/zootaxa.4585.3.4
Cedrola F, Bordim S, D'Agosto M, Dias RJP.The aims of this study were to identify and quantify the gastrointestinal ciliates from Brazilian domestic horses, to compare the data obtained with previous studies and to review data on ciliate communities associated with horses around the world. We used eight domestic horses, kept under extensive management. Fecal samples were obtained immediately after defecation of animals and fixed in 18.5% formaldehyde. We identify 24 species of endosymbiotic ciliates, distributed in two subclasses, two orders, five families and 13 genera. The ciliate composition was similar among the animals analyzed. ...
Vitrifying immature equine oocytes impairs their ability to correctly align the chromosomes on the MII spindle.
Reproduction, fertility, and development    April 11, 2019   Volume 31, Issue 8 1330-1338 doi: 10.1071/RD18276
Ducheyne KD, Rizzo M, Daels PF, Stout TAE, de Ruijter-Villani M.Vitrified-warmed immature equine oocytes are able to complete the first meiotic division, but their subsequent developmental competence is compromised. Therefore, the present study investigated the effects of vitrifying immature horse oocytes on the chromosome and spindle configuration after IVM. Cumulus-oocytes complexes (COCs) were collected and divided into two groups based on mare age (young ≤14 years; old ≥16 years). COCs were then either directly matured invitro or vitrified and warmed before IVM. Spindle morphology and chromosome alignment within MII stage oocytes were assessed usin...
Genetic susceptibility to West Nile virus infection in Camargue horses.
Research in veterinary science    April 10, 2019   Volume 124 284-292 doi: 10.1016/j.rvsc.2019.04.004
Stejskalova K, Cvanova M, Oppelt J, Janova E, Horecky C, Horecka E, Knoll A, Leblond A, Horin P.West Nile virus (WNV) is a mosquito-borne zoonotic neurotropic virus capable to cause lethal meningoencephalitis (WNE) in infected hosts such as birds, horses, and humans. Due to their sensitivity, horses serve as sentinel species in areas at risk. We studied a population of Camargue horses living in Southern France in two zones with endemic WNV circulation where WNV outbreaks were recorded in 2000 and 2003-4. Two sets of microsatellite markers located in MHC and Ly49 genomic regions were genotyped as well as multiple SNPs in ten immunity-related candidate gene regions. Associations between ge...
Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses.
Animal genetics    April 10, 2019   Volume 50, Issue 3 275-278 doi: 10.1111/age.12784
Sevane N, Sanz CR, Dunner S.Four loci seem responsible for the dilution of the basic coat colours in horse: Dun (D), Silver Dapple (Z), Champagne (CH) and Cream (C). Apart from the current phenotypes ascribed to these loci, pearl has been described as yet another diluted coat colour in this species. To date, this coat colour seems to segregate only in the Iberian breeds Purebred Spanish horse and Lusitano and has also been described in breeds of Iberian origin, such as Quarter Horses and Paint Horse, where it is referred to as the 'Barlink Factor'. This phenotype segregates in an autosomal recessive manner and resembles ...
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