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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.
Naturally arising point mutations in non-essential domains of equine infectious anemia virus Rev alter Rev-dependent nuclear-export activity.
The Journal of general virology    March 18, 2008   Volume 89, Issue Pt 4 1043-1048 doi: 10.1099/vir.0.83195-0
Sparks WO, Dorman KS, Liu S, Carpenter S.Equine infectious anemia virus (EIAV) exhibits a high rate of genetic variation in vivo, and results in a clinically variable disease in infected horses. In vivo populations of EIAV have been characterized by the presence of distinct, genetic subpopulations of Rev that differ in phenotype and fluctuate in dominance in a manner coincident with each clinical stage of disease. This study examined the specific mutations that arose in vivo and altered the phenotype. The Rev protein was found to be highly conserved, and only 10 aa mutations were observed at a frequency greater than 10 % in the sampl...
Impaired instrumental choice in crib-biting horses (Equus caballus).
Behavioural brain research    March 16, 2008   Volume 191, Issue 1 137-140 doi: 10.1016/j.bbr.2008.03.009
Parker M, Redhead ES, Goodwin D, McBride SD.Horses displaying an oral stereotypy were tested on an instrumental choice paradigm to examine differences in learning from non-stereotypic counterparts. Stereotypic horses are known to have dysfunction of the dorsomedial striatum, and lesion studies have shown that this region may mediate response-outcome learning. The paradigm was specifically applied in order to examine learning that requires maintenance of response-outcome judgements. The non-stereotypic horses learned, over three sessions, to choose a more immediate reinforcer, whereas the stereotypic horses failed to do so. This suggests...
[Progress in the study of genetic diversity of Mongolian horse].
Yi chuan = Hereditas    March 12, 2008   Volume 30, Issue 3 269-276 
Dugarjaviin M, Yang H.Mongolian horse is a kind of important breed resource of local horses in our country. It has a lot of advantages such as powerful endurance, rough feeding resistance, and strong disease resistance. These advantages have become driving force for in-depth study on Mongolian horse. Genetic diversity can reflect all the genetic information of a species or a variety, namely, it reflects the richness of genetic diversity and confirms the degree of uniqueness of genetic resources through genetic markers. This paper introduces the progress in the study on genetic diversity of Mongolian horse in many a...
[Design of equine serum-based Marburg virus immunoglobulin].
Voprosy virusologii    March 6, 2008   Volume 53, Issue 1 39-41 
Borisevich IV, Potryvaeva NV, Mel'nikov SA, Evseev AA, Krasnianskiĭ VP, Maksimov VA.Immunoglobulin (Ig) against Marburg fever (MF) has been obtained from the equine serum. In terms of physicochemical and immunobiological properties, the obtained preparation corresponds to the quality of heterologous commercial immunoglobulins. The application of Marburg virus (MV) Ig with a titer of no less than 1:2048 by the emergency prevention scheme 1-2 hours after intraperitoneal inoculation of guinea pigs with MV in a dose of 20-50 LD50 protected 88-100% of the animals from death. MV Ig is recommended for emergency prevention of human MF.
Experimental embryology of mammals at the Jastrzebiec Institute of Genetics and Animal Breeding.
The International journal of developmental biology    March 4, 2008   Volume 52, Issue 2-3 157-161 doi: 10.1387/ijdb.072316jk
Karasiewicz J, Andrzej-Modlinski J.Our Department of Experimental Embryology originated from The Laboratory of Embryo Biotechnology, which was organized and directed by Dr. Maria Czlonkowska until her premature death in 1991. Proving successful international transfer of frozen equine embryos and generation of an embryonic sheep-goat chimaera surviving ten years were outstanding achievements of her term. In the 1990s, we produced advanced fetuses of mice after reconstructing enucleated oocytes with embryonic stem (ES) cells, as well as mice originating entirely from ES cells by substitution of the inner cell mass with ES cells. ...
Identification of a LIM domain-containing gene in the Cyathostominae.
Veterinary parasitology    March 4, 2008   Volume 154, Issue 1-2 82-93 doi: 10.1016/j.vetpar.2007.12.037
Matthews JB, Johnson DR, Lazari O, Craig R, Matthews KR.The Cyathostominae are a complex group of nematodes and are the primary parasitic pathogens of horses. Little is known of their basic biology. As part of an investigation into mechanisms involved in reactivation of mucosal larval stages, we identified a gene encoding a predicted LIM domain-containing protein (Cy-LIM-1). LIM domains are cysteine- and histidine-rich motifs that are thought to direct protein-protein interactions. Proteins that contain these domains have a wide range of functions including gene regulation, cell fate determination and cytoskeleton organization. The Cy-lim-1 mRNA wa...
Genetic analysis of insect bite hypersensitivity (summer eczema) in Icelandic horses.
Animal : an international journal of animal bioscience    March 1, 2008   Volume 2, Issue 3 360-365 doi: 10.1017/S1751731107001413
Eriksson S, Grandinson K, Fikse WF, Lindberg L, Mikko S, Broström H, Frey R, Sundquist M, Lindgren G.There is a lack of knowledge about the genetic background of eczema due to insect bite hypersensitivity, also called summer eczema, in horses. The condition is known in several horse breeds and countries and it causes reduced welfare of the horse and economic losses to the owner. The aim of this study was to estimate genetic parameters for summer eczema in Swedish-born Icelandic horses. A questionnaire was sent to owners of horses sired by stallions with more than 50 offspring born in Sweden between 1991 and 2001. Variance components of summer eczema classified as healthy, mild, moderate or se...
Technical note: a novel method for routine genotyping of horse coat color gene polymorphisms.
Journal of animal science    February 29, 2008   Volume 86, Issue 6 1291-1295 doi: 10.2527/jas.2007-0498
Royo LJ, Fernández I, Azor PJ, Alvarez I, Pérez-Pardal L, Goyache F.The aim of this note is to describe a reliable, fast, and cost-effective real-time PCR method for routine genotyping of mutations responsible for most coat color variation in horses. The melanocortin-1 receptor, Agouti-signaling peptide, and membrane-associated transporter protein alleles were simultaneously determined using 2 PCR protocols. The assay described here is an alternative method for routine genotyping of a defined number of polymorphisms. Allelic variants are detected in real time and no post-PCR manipulations are required, therefore limiting costs and possible carryover contaminat...
Genetic variability in Hanoverian warmblood horses using pedigree analysis.
Journal of animal science    February 29, 2008   Volume 86, Issue 7 1503-1513 doi: 10.2527/jas.2007-0382
Hamann H, Distl O.A data set constituting a total of 310,109 Hanoverian warmblood horses was analyzed to ascertain the genetic variability, coefficients of inbreeding, and gene contributions of foreign populations. The reference population contained all Hanoverian horses born from 1980 to 2000. In addition, Hanoverian stallions born from 1980 to 1995 and Hanoverian breeding mares from the birth years 1980 to 1995 with registered foals were analyzed for the same genetic parameters. The average complete generation equivalent was approximately 8.43 for the reference population. The mean coefficient of inbreeding w...
Plasmid growth hormone releasing hormone therapy in healthy and laminitis-afflicted horses-evaluation and pilot study.
The journal of gene medicine    February 28, 2008   Volume 10, Issue 5 564-574 doi: 10.1002/jgm.1170
Brown PA, Bodles-Brakhop A, Draghia-Akli R.In vivo electroporation dramatically improves the potency of plasmid-mediated therapies, including in large animal models. Laminitis and arthritis are common and debilitating diseases in the horse, as well as humans. Methods: The effects of growth hormone releasing hormone (GHRH) on healthy horses and on horses with laminitis that were followed for 6 months after a single intramuscular injection and electroporation of 2.5 mg of an optimized myogenic GHRH-expressing plasmid were examined. Results: In the first study on six healthy horses, we observed a significant increase in body mass by day 1...
Formation of the arterivirus replication/transcription complex: a key role for nonstructural protein 3 in the remodeling of intracellular membranes.
Journal of virology    February 27, 2008   Volume 82, Issue 9 4480-4491 doi: 10.1128/JVI.02756-07
Posthuma CC, Pedersen KW, Lu Z, Joosten RG, Roos N, Zevenhoven-Dobbe JC, Snijder EJ.The replication/transcription complex of the arterivirus equine arteritis virus (EAV) is associated with paired membranes and/or double-membrane vesicles (DMVs) that are thought to originate from the endoplasmic reticulum. Previously, coexpression of two putative transmembrane nonstructural proteins (nsp2 and nsp3) was found to suffice to induce these remarkable membrane structures, which are typical of arterivirus infection. Here, site-directed mutagenesis was used to investigate the role of nsp3 in more detail. Liberation of the hydrophobic N terminus of nsp3, which is normally achieved by c...
Application of primed in situ DNA synthesis (PRINS) with telomere human commercial kit in molecular cytogenetics of Equus caballus and Sus scrofa scrofa.
Folia histochemica et cytobiologica    February 26, 2008   Volume 46, Issue 1 85-88 doi: 10.2478/v10042-008-0012-9
Wnuk M, Bugno M, Slota E.Recently, molecular techniques have become an indispensable tools for cytogenetic research. Especially, development of in situ techniques made possible detection at the chromosomal level, genes as well as repetitive sequences like telomeres or the DNA component of telomeres. One of these methods is primed in situ DNA synthesis (PRINS) using an oligonucleotide primer complementary to the specific DNA sequence. In this report we described application of PRINS technique with telomere human commercial kit to telomere sequences identification. This commercial kit may be use to visualization of inte...
Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    February 23, 2008   Volume 16, Issue 1 89-107 doi: 10.1007/s10577-007-1201-7
Trifonov VA, Stanyon R, Nesterenko AI, Fu B, Perelman PL, O'Brien PC, Stone G, Rubtsova NV, Houck ML, Robinson TJ, Ferguson-Smith MA, Dobigny G....The order Perissodactyla, the group of odd-toed ungulates, includes three extant families: Equidae, Tapiridae, and Rhinocerotidae. The extremely rapid karyotypic diversification in perissodactyls has so far prevented the establishment of genome-wide homology maps between these three families by traditional cytogenetic approaches. Here we report the first genome-wide comparative chromosome maps of African rhinoceroses, four tapir species, four equine species, and humans. These maps were established by multidirectional chromosome painting, with paint probes derived from flow-sorted chromosomes o...
Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed.
The Journal of heredity    February 21, 2008   Volume 99, Issue 2 130-136 doi: 10.1093/jhered/esm115
Rieder S, Hagger C, Obexer-Ruff G, Leeb T, Poncet PA.White markings and spotting patterns in animal species are thought to be a result of the domestication process. They often serve for the identification of individuals but sometimes are accompanied by complex pathological syndromes. In the Swiss Franches-Montagnes horse population, white markings increased vastly in size and occurrence during the past 30 years, although the breeding goal demands a horse with as little depigmented areas as possible. In order to improve selection and avoid more excessive depigmentation on the population level, we estimated population parameters and breeding value...
Truncation of cytoplasmic tail of EIAV Env increases the pathogenic necrosis.
Virus research    February 21, 2008   Volume 133, Issue 2 201-210 doi: 10.1016/j.virusres.2008.01.004
Meng Q, Li S, Liu L, Xu J, Liu Y, Zhang Y, Zhang X, Shao Y.Equine Infectious Anemia Virus (EIAV), like other lentiviruses, has a transmembrane glycoprotein with an unusually long cytoplasmic tail (CT). Viral envelope (Env) proteins having CT truncations just downstream the putative membrane-spanning domain (PMSD) are assumed to exist among all wild-type budded virions, and also in some cell-adapted strains. To determine whether CT-truncated Env proteins can cause particularly deleterious effects on the Env expressing cells and/or their neighboring cells, plasmids encoding codon-optimized env gene including full-length (pE863) or CT-truncated (pE686* a...
Ovine anti-rabies antibody production and evaluation.
Comparative immunology, microbiology and infectious diseases    February 19, 2008   Volume 32, Issue 1 9-19 doi: 10.1016/j.cimid.2007.11.004
Redwan el-RM, Fahmy A, El Hanafy A, Abd El-Baky N, Sallam SM.In view of the disadvantages of human and equine rabies immunoglobulin still there is urgent needs for safe and cost-control anti-rabies immunoglobulins especially for person who have been severely exposed (categories III) to the virus. Our attempt to produce a less immunogenic and cheaper anti-rabies immunoglobulin affordable for those people living in developing countries, has been harnessed the ovine as a bioreactor instead the horse. The animals have been intramuscular immunized, and the plasma processed with 5% caprylic acid to yield IgG with purity of 95%. Moreover, antibody apparently i...
The horse genome derby: racing from map to whole genome sequence.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    February 16, 2008   Volume 16, Issue 1 109-127 doi: 10.1007/s10577-008-1204-z
Chowdhary BP, Raudsepp T.The map of the horse genome has undergone unprecedented expansion during the past six years. Beginning from a modest collection of approximately 300 mapped markers scattered on the 31 pairs of autosomes and the X chromosome in 2001, today the horse genome is among the best-mapped in domestic animals. Presently, high-resolution linearly ordered gene maps are available for all autosomes as well as the X and the Y chromosome. The approximately 4350 mapped markers distributed over the approximately 2.68 Gbp long equine genome provide on average 1 marker every 620 kb. Among the most remarkable deve...
Characterisation of recombinant immunoreactive antigens of the scab mite Sarcoptes scabiei.
Veterinary parasitology    February 16, 2008   Volume 153, Issue 3-4 329-337 doi: 10.1016/j.vetpar.2008.02.007
Kuhn C, Lucius R, Matthes HF, Meusel G, Reich B, Kalinna BH.Sarcoptic mange (or scabies) is an important skin disease which can affect a variety of species including humans, cattle, goats, sheep, horses, pigs, rabbits, and dogs. Approximately 300 million people are affected worldwide and in lifestock animals the infestation may lead to substantial economic losses caused by depression in growth and feed conversion rates. Diagnosis of Sarcoptes infestation is difficult and only a few serological tests have been developed using whole mite antigen for diagnosis of mange in animals. Here we describe the isolation and characterisation of cDNAs of several imm...
Early changes in biomarkers of skeletal metabolism and their association to the occurrence of osteochondrosis (OC) in the horse.
Equine veterinary journal    February 13, 2008   Volume 40, Issue 3 253-259 doi: 10.2746/042516408X273657
Donabédian M, van Weeren PR, Perona G, Fleurance G, Robert C, Léger S, Bergero D, Lepage O, Martin-Rosset W.Diagnosis of osteochondrosis (OC) is based on clinical signs and radiography, but alternative methods for detection at an early stage would be useful. Objective: To determine in the juvenile horse the relationship between serum concentrations of a number of biomarkers that reflect changes in cartilage and bone turnover and age, feeding level, growth, and the occurrence of OC. Methods: Foals were assigned to a high (n = 20) or moderate (n = 19) feeding level group from birth to age 1 year. Bodyweight, withers height and cannon width were measured. Osteoarticular status was assessed radiographic...
Phenotypic diagnosis of dwarfism in six Friesian horses.
Equine veterinary journal    February 13, 2008   Volume 40, Issue 3 282-287 doi: 10.2746/042516408X278201
Back W, van der Lugt JJ, Nikkels PG, van den Belt AJ, van der Kolk JH, Stout TA.An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of the dwarf syndrome is the physeal growth retardation in both limbs and ribs. Affected animals have approximately 25% shorter fore- and hindlimbs and approximately 50% reduced bodyweight. Postnatal growth is still possible in these animals, albeit at a slower rate: the head and back grow faster than t...
Helix-rich transient and equilibrium intermediates of equine beta-lactoglobulin in alkaline buffer.
Biophysical chemistry    February 13, 2008   Volume 134, Issue 1-2 84-92 doi: 10.1016/j.bpc.2008.01.010
Matsumura Y, Li J, Ikeguchi M, Kihara H.Acidic buffer conditions are known to stabilize helix-rich states of even those proteins with a predominantly beta-sheet native secondary structure. Here we investigated whether such states also exist under alkaline buffer conditions. The guanidine hydrochloride (GuHCl)-induced unfolding transition and kinetic refolding of equine beta-lactoglobulin (ELG) by GuHCl-jump were investigated at pH 8.7 by far-ultraviolet circular dichroism. We found that an equilibrium intermediate appeared in 45% ethylene glycol (EGOH) buffer with 1.5 M GuHCl. The intermediate is rich in non-native alpha-helix, whic...
Distribution of the neurokinin-1 receptor in equine intestinal smooth muscle.
Equine veterinary journal    February 13, 2008   Volume 40, Issue 4 321-325 doi: 10.2746/042516408X278184
Solinger N, Sonea IM.Tachykinins have profound effects on equine intestinal motility, but the distribution of the neurokinin receptors (NKRs) through which they act is unknown. This study reports the distribution of one of these receptors, the neurokinin-1 receptor (NK1R), in smooth muscle throughout the equine intestinal tract. Objective: To quantify the distribution of the NK1R, based upon mRNA expression, in smooth muscle of different regions of the equine intestinal tract. Methods: Nine regions of the intestinal tract were sampled in 5 mature horses. Total RNA was isolated from smooth muscle and reverse transc...
An investigation of colour discrimination with horses (Equus caballus).
Behavioural processes    February 13, 2008   Volume 78, Issue 3 387-396 doi: 10.1016/j.beproc.2008.02.003
Blackmore TL, Foster TM, Sumpter CE, Temple W.The ability of four horses (Equus caballus) to discriminate coloured (three shades of blue, green, red, and yellow) from grey (neutral density) stimuli, produced by back projected lighting filters, was investigated in a two response forced-choice procedure. Pushes of the lever in front of a coloured screen were occasionally reinforced, pushes of the lever in front of a grey screen were never reinforced. Each colour shade was randomly paired with a grey that was brighter, one that was dimmer, and one that approximately matched the colour in terms of brightness. Each horse experienced the colour...
Osteogenic gene regulation and relative acceleration of healing by adenoviral-mediated transfer of human BMP-2 or -6 in equine osteotomy and ostectomy models.
Journal of orthopaedic research : official publication of the Orthopaedic Research Society    February 5, 2008   Volume 26, Issue 6 764-771 doi: 10.1002/jor.20585
Ishihara A, Shields KM, Litsky AS, Mattoon JS, Weisbrode SE, Bartlett JS, Bertone AL.This study evaluated healing of equine metatarsal osteotomies and ostectomies in response to percutaneous injection of adenoviral (Ad) bone morphogenetic protein (BMP)-2, Ad-BMP-6, or beta-galactosidase protein vector control (Ad-LacZ) administered 14 days after surgery. Radiographic and quantitative computed tomographic assessment of bone formation indicated greater and earlier mineralized callus in both the osteotomies and ostectomies of the metatarsi injected with Ad-BMP-2 or Ad-BMP-6. Peak torque to failure and torsional stiffness were greater in osteotomies treated with Ad-BMP-2 than Ad-B...
Characterization of a novel, testis-specific equine serine/threonine kinase.
Molecular reproduction and development    February 5, 2008   Volume 75, Issue 5 867-873 doi: 10.1002/mrd.20792
Sabeur K, Ball BA, Corbin CJ, Conley A.Testis-specific protein kinases are important because of their potential role in spermiogenesis, sperm maturation, and sperm function. In the present study, a novel serine-threonine kinase with high identity to human serine-threonine kinase 31 (STK31) was cloned from equine testis and expression of the protein was characterized in equine testis and ejaculated spermatozoa. Five over-lapping independent clones were plaque purified after screening of a lambda ZAP cDNA expression library constructed from equine testis. Sequence analysis and alignment of all five clones showed high identity with hu...
Prevalence and body distribution of sarcoids in South African Cape mountain zebra (Equus zebra zebra).
Journal of the South African Veterinary Association    February 2, 2008   Volume 78, Issue 3 145-148 doi: 10.4102/jsava.v78i3.306
Marais HJ, Nel P, Bertschinger HJ, Schoeman JP, Zimmerman D.There are no reports in the literature describing any tumours, and specifically sarcoids, in zebras. The equine sarcoid, a locally aggressive, fibroblastic skin tumour, is the most common dermatological neoplasm reported in horses. The Cape mountain zebra (CMZ) has been described as one of the most vulnerable mammals in South Africa with current populations existing in isolated units. All South African CMZ are descendants from no more than 30 individual animals originating from 3 populations, namely the Mountain Zebra National Park, and Kammanassie and Gamka Mountain Nature Reserves near Crado...
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.
Cytogenetic and genome research    February 1, 2008   Volume 119, Issue 3-4 225-230 doi: 10.1159/000112065
Brooks SA, Lear TL, Adelson DL, Bailey E.Tobiano is a white spotting pattern in horses caused by a dominant gene, Tobiano(TO). Here, we report TO associated with a large paracentric chromosome inversion on horse chromosome 3. DNA sequences flanking the inversion were identified and a PCR test was developed to detect the inversion. The inversion was only found in horses with the tobiano pattern, including horses with diverse genetic backgrounds, which indicated a common genetic origin thousands of years ago. The inversion does not interrupt any annotated genes, but begins approximately 100 kb downstream of the KIT gene. This inversion...
A defined medium supports changes consistent with capacitation in stallion sperm, as evidenced by increases in protein tyrosine phosphorylation and high rates of acrosomal exocytosis.
Theriogenology    February 1, 2008   Volume 69, Issue 5 639-650 doi: 10.1016/j.theriogenology.2007.11.016
McPartlin LA, Littell J, Mark E, Nelson JL, Travis AJ, Bedford-Guaus SJ.Efficient in vitro capacitation of stallion sperm has not yet been achieved, as suggested by low sperm penetration rates reported in in vitro fertilization (IVF) studies. Our objectives were to evaluate defined incubation conditions that would support changes consistent with capacitation in stallion sperm. Protein tyrosine phosphorylation events and the ability of sperm to undergo acrosomal exocytosis under various incubation conditions were used as end points for capacitation. Sperm incubated 4-6h in modified Whitten's (MW) with the addition of 25 mM NaHCO3 and 7 mg/mL BSA (capacitating mediu...
Follicle diameters and hormone concentrations in the development of single versus double ovulations in mares.
Theriogenology    February 1, 2008   Volume 69, Issue 5 583-590 doi: 10.1016/j.theriogenology.2007.11.004
Ginther OJ, Gastal EL, Rodrigues BL, Gastal MO, Beg MA.Relationships between double ovulations and plasma hormone concentrations were compared between 18 single ovulating and 6 double ovulating mares. The study began when the first follicle reached >or=30 mm, and ultrasound scanning and blood sampling were done every 12h to Day 3 (ovulation=Day 0). Data were analyzed for 2.5 d after the largest follicle was >or=30 mm and after Day -2.5 to encompass the mean 5-d interval between a >or=30 mm follicle and Day 0. During the 2.5 d after >or=30 mm, the increasing diameter of the largest follicle was less pronounced and plasma FSH concentrati...
Equine CTNNB1 and PECAM1 nucleotide structure and expression analyses in an experimental model of normal and pathological wound repair.
BMC physiology    January 31, 2008   Volume 8 1 doi: 10.1186/1472-6793-8-1
Miragliotta V, Ipiña Z, Lefebvre-Lavoie J, Lussier JG, Theoret CL.Wound healing in horses is fraught with complications. Specifically, wounds on horse limbs often develop exuberant granulation tissue which behaves clinically like a benign tumor and resembles the human keloid in that the evolving scar is trapped in the proliferative phase of repair, leading to fibrosis. Clues gained from the study of over-scarring in horses should eventually lead to new insights into how to prevent unwanted scar formation in humans. cDNA fragments corresponding to CTNNB1 (coding for beta-catenin) and PECAM1, genes potentially contributing to the proliferative phase of repair,...