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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.
Transmission of equine influenza virus during an outbreak is characterized by frequent mixed infections and loose transmission bottlenecks.
PLoS pathogens    December 20, 2012   Volume 8, Issue 12 e1003081 doi: 10.1371/journal.ppat.1003081
Hughes J, Allen RC, Baguelin M, Hampson K, Baillie GJ, Elton D, Newton JR, Kellam P, Wood JL, Holmes EC, Murcia PR.The ability of influenza A viruses (IAVs) to cross species barriers and evade host immunity is a major public health concern. Studies on the phylodynamics of IAVs across different scales - from the individual to the population - are essential for devising effective measures to predict, prevent or contain influenza emergence. Understanding how IAVs spread and evolve during outbreaks is critical for the management of epidemics. Reconstructing the transmission network during a single outbreak by sampling viral genetic data in time and space can generate insights about these processes. Here, we ob...
Multiple secretoglobin 1A1 genes are differentially expressed in horses.
BMC genomics    December 19, 2012   Volume 13 712 doi: 10.1186/1471-2164-13-712
Côté O, Lillie BN, Hayes MA, Clark ME, van den Bosch L, Katavolos P, Viel L, Bienzle D.Secretoglobin 1A1 (SCGB 1A1), also called Clara cell secretory protein, is the most abundantly secreted protein of the airway. The SCGB1A1 gene has been characterized in mammals as a single copy in the genome. However, analysis of the equine genome suggested that horses might have multiple SCGB1A1 gene copies. Non-ciliated lung epithelial cells produce SCGB 1A1 during inhalation of noxious substances to counter airway inflammation. Airway fluid and lung tissue of horses with recurrent airway obstruction (RAO), a chronic inflammatory lung disease affecting mature horses similar to environmental...
Assisted reproduction techniques in the horse.
Reproduction, fertility, and development    December 19, 2012   Volume 25, Issue 1 80-93 doi: 10.1071/RD12263
Hinrichs K.This paper reviews current equine assisted reproduction techniques. Embryo transfer is the most common equine ART, but is still limited by the inability to superovulate mares effectively. Immature oocytes may be recovered by transvaginal ultrasound-guided aspiration of immature follicles, or from ovaries postmortem, and can be effectively matured in vitro. Notably, the in vivo-matured oocyte may be easily recovered from the stimulated preovulatory follicle. Standard IVF is still not repeatable in the horse; however, embryos and foals can be produced by surgical transfer of mature oocytes to th...
[Isolation, identification and enzyme characterization of a thermophilic cellulolytic anaerobic bacterium].
Wei sheng wu xue bao = Acta microbiologica Sinica    December 15, 2012   Volume 52, Issue 9 1160-1166 
Zhao Y, Ma S, Sun Y, Huang Y, Deng Y.To identify a thermophilic bacterium from horse manure to degrade cellulose efficiently, and to enrich microbial resources producing cellulolytic ethanol by co-culturing with thermophilic ethanol producing bacterium. Methods: We used Hungate anaerobic technique to isolate a strain named as HCp from horse manure mixed culture; its phylogeny was identified through 16S rDNA sequencing. Enzymatic assays were determined using DNS method. Results: The isolated HCp cells were straight with rods size of(0.35-0.50) microm x (2.42-6.40) microm, in the form of single or paring. This strain belongs to a s...
The equine endometrial cup reaction: a fetomaternal signal of significance.
Annual review of animal biosciences    December 13, 2012   Volume 1 419-442 doi: 10.1146/annurev-animal-031412-103703
Antczak DF, de Mestre AM, Wilsher S, Allen WR.A remarkable feature of equine pregnancy is the development of the invasive trophoblast of the chorionic girdle and its formation of the gonadotrophin-secreting endometrial cup cells in early gestation. The details of this process have been revealed only slowly over the past century, since the first description of the endometrial cups in 1912. This centennial presents an opportunity to review the characteristics of the cells and molecules involved in this early, critical phase of placentation in the mare. The invasiveness of the chorionic girdle trophoblast appears to represent an atavistic at...
Identification of piroplasms isolated from asymptomatic equine species from southern Spain.
Berliner und Munchener tierarztliche Wochenschrift    December 12, 2012   Volume 125, Issue 11-12 509-512 
Adaszek Ł, García-Bocanegra I, Arenas-Montes A, Carbonero A, Arenas A, Winiarczyk S.The aim of the study was to detect the presence of genetic material of equine piroplasmas and to determine the species isolates from apparently healthy equids, including horses, donkeys and mules, in southern Spain. Blood samples were collected from 135 animals to assess the presence of DNA from equine piroplasmas using PCR. Babesia (B.) caballi DNA was detected in blood samples of three horses and one donkey, while Theileria (T.) equi DNA was confirmed in blood of 19 horses, three mules and one donkey. All B. caballi isolates showed a 100% homology of the nucleotide sequence of the 18S RNA ge...
HybProbes-based real-time PCR assay for rapid detection of equine herpesvirus type 2 DNA.
Polish journal of veterinary sciences    December 12, 2012   Volume 15, Issue 3 411-416 doi: 10.2478/v10181-012-0064-9
Osińska E, Golke A, Słońska A, Cymerys J, Bańbura MW, Dzieciatkowski T.Equid herpesvirus type 2 (EHV-2) together with equid herpesvirus type 5 are members of Gammaherpesvirinae subfamily, genus Rhadinovirus. EHV-2 is one of major agents causing diseases of horses common worldwide. A possible role of EHV-2 in reactivating latent equid herpesvirus type-1 has been suggested, because reactivation of latent EHV-1 was always accompanied by EHV-2 replication. Variety techniques, including cell culture, PCR and its modifications, have been used to diagnose EHV-2 infections. The aim of this study was to develop, optimize and determine specificity of real-time PCR (qPCR) f...
Computation of deregressed proofs for genomic selection when own phenotypes exist with an application in French show-jumping horses.
Journal of animal science    December 10, 2012   Volume 91, Issue 3 1076-1085 doi: 10.2527/jas.2012-5256
Ricard A, Danvy S, Legarra A.Genomic evaluations often use as pseudo-phenotypes corrected means of progeny performances, like daughter yield deviations (DYD) in dairy species. In horse breeding, own performances are also available and performances from other relatives (as half sibs) may play an important part in the EBV because the number of progeny remains low, even for stallions. The first step for genomic selection in horses is therefore to generate pseudo-phenotypes for genomic analysis when parental or own information is considered. This work presents an easy method to compute deregressed EBV from regular pedigree-ba...
The effect of two pre-cryopreservation single layer colloidal centrifugation protocols in combination with different freezing extenders on the fragmentation dynamics of thawed equine sperm DNA.
Acta veterinaria Scandinavica    December 5, 2012   Volume 54, Issue 1 72 doi: 10.1186/1751-0147-54-72
Gutiérrez-Cepeda L, Fernández A, Crespo F, Ramírez MÁ, Gosálvez J, Serres C.Variability among stallions in terms of semen cryopreservation quality renders it difficult to arrive at a standardized cryopreservation method. Different extenders and processing techniques (such us colloidal centrifugation) are used in order to optimize post-thaw sperm quality. Sperm chromatin integrity analysis is an effective tool for assessing such quality. The aim of the present study was to compare the effect of two single layer colloidal centrifugation protocols (prior to cryopreservation) in combination with three commercial freezing extenders on the post-thaw chromatin integrity of e...
Epidemiology and host spectrum of Borna disease virus infections.
The Journal of general virology    December 5, 2012   Volume 94, Issue Pt 2 247-262 doi: 10.1099/vir.0.046961-0
Kinnunen PM, Palva A, Vaheri A, Vapalahti O.Borna disease virus (BDV) has gained lot of interest because of its zoonotic potential, ability to introduce cDNA of its RNA transcripts into host genomes, and ability to cause severe neurobehavioural diseases. Classical Borna disease is a progressive meningoencephalomyelitis in horses and sheep, known in central Europe for centuries. According to current knowledge, BDV or a close relative also infects several other species, including humans at least occasionally, in central Europe and elsewhere, but the existence of potential 'human Borna disease' with its suspected neuropsychiatric symptoms ...
The presence and gene expression of bovine papillomavirus in the peripheral blood and semen of healthy horses.
Transboundary and emerging diseases    December 4, 2012   Volume 61, Issue 4 329-333 doi: 10.1111/tbed.12036
Silva MA, Silva KM, Jesus AL, Barros LO, Corteggio A, Altamura G, Borzacchiello G, Freitas AC.Papillomavirus (PV) are double-stranded DNA viruses that can cause both benignant and malignant tumours in mammals. Twelve genotypes of bovine papillomavirus (BPV1-12) have been identified so far. The presence of BPV1 and 2 has been found in the body fluids of cattle and horses. The aim of this study is to investigate the presence of BPV DNA and the expression of viral genes in the blood and sperm cells of healthy horses using PCR and RT-PCR. BPV-1 or 2 was detected in 14 of 70 blood samples (20%) and in 11 of 31 semen samples (35%). In five of fourteen blood samples, the E5 expression tested ...
Equine sarcoids: Bovine Papillomavirus type 1 transformed fibroblasts are sensitive to cisplatin and UVB induced apoptosis and show aberrant expression of p53.
Veterinary research    December 4, 2012   Volume 43, Issue 1 81 doi: 10.1186/1297-9716-43-81
Finlay M, Yuan Z, Morgan IM, Campo MS, Nasir L.Bovine papillomavirus type 1 infects not only cattle but also equids and is a causative factor in the pathogenesis of commonly occurring equine sarcoid tumours. Whilst treatment of sarcoids is notoriously difficult, cisplatin has been shown to be one of the most effective treatment strategies for sarcoids. In this study we show that in equine fibroblasts, BPV-1 sensitises cells to cisplatin-induced and UVB-induced apoptosis, a known cofactor for papillomavirus associated disease, however BPV-1 transformed fibroblasts show increased clonogenic survival, which may potentially limit the therapeut...
Prevalence and characterization of extended-spectrum beta-lactamase (ESBL)- and CMY-2-producing Escherichia coli isolates from healthy food-producing animals in Tunisia.
Foodborne pathogens and disease    November 29, 2012   Volume 9, Issue 12 1137-1142 doi: 10.1089/fpd.2012.1267
Ben Sallem R, Ben Slama K, Sáenz Y, Rojo-Bezares B, Estepa V, Jouini A, Gharsa H, Klibi N, Boudabous A, Torres C.The prevalence of extended-spectrum beta-lactamase (ESBL)- and plasmidic AmpC-beta-lactamase (pAmpC-BL)-producing Escherichia coli isolates has been studied in food-producing animals at the farm level in Tunisia, and recovered isolates were characterized for the presence of other resistance genes and integrons. Eighty fecal samples of food-producing animals (23 sheep, 22 chickens, 22 cattle, six horses, five rabbits, and two dromedaries) were obtained from 35 different farms in Tunisia in 2011. Samples were inoculated onto MacConkey agar plates supplemented with cefotaxime (2 mg/L) for cefot...
Pedigree analysis and exclusion of alpha-tocopherol transfer protein (TTPA) as a candidate gene for neuroaxonal dystrophy in the American Quarter Horse.
Journal of veterinary internal medicine    November 27, 2012   Volume 27, Issue 1 177-185 doi: 10.1111/jvim.12015
Finno CJ, Famula T, Aleman M, Higgins RJ, Madigan JE, Bannasch DL.Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (TTPA). To evaluate variants found upon sequencing TTPA in the horse, the mode of inheritance for NAD/EDM had to be established. Objective: NAD/EDM in the American Quarter Horse (QH) is caused by a mutation in TTPA. Methods: 88 clinically phenotyped (35 affected [ataxia score ≥2], 53 unaffected) QH...
Pyrosequencing of 16S rRNA genes in fecal samples reveals high diversity of hindgut microflora in horses and potential links to chronic laminitis.
BMC veterinary research    November 27, 2012   Volume 8 231 doi: 10.1186/1746-6148-8-231
Steelman SM, Chowdhary BP, Dowd S, Suchodolski J, Janečka JE.The nutrition and health of horses is closely tied to their gastrointestinal microflora. Gut bacteria break down plant structural carbohydrates and produce volatile fatty acids, which are a major source of energy for horses. Bacterial communities are also essential for maintaining gut homeostasis and have been hypothesized to contribute to various diseases including laminitis. We performed pyrosequencing of 16S rRNA bacterial genes isolated from fecal material to characterize hindgut bacterial communities in healthy horses and those with chronic laminitis. Results: Fecal samples were collected...
Monitoring of equine health in Denmark: the importance, purpose, research areas and content of a future database.
Preventive veterinary medicine    November 26, 2012   Volume 109, Issue 1-2 92-105 doi: 10.1016/j.prevetmed.2012.10.015
Hartig W, Houe H, Andersen PH.The plentiful data on Danish horses are currently neither organized nor easily accessible, impeding register-based epidemiological studies on Danish horses. A common database could be beneficial. In principle, databases can contain a wealth of information, but no single database can serve every purpose. Hence the establishment of a Danish equine health database should be preceded by careful consideration of its purpose and content, and stakeholder attitudes should be investigated. The objectives of the present study were to identify stakeholder attitudes to the importance, purpose, research ar...
Genomic analysis of a Canadian equine rhinitis A virus reveals low diversity among field isolates.
Virus genes    November 24, 2012   Volume 46, Issue 2 280-286 doi: 10.1007/s11262-012-0848-0
Diaz-Méndez A, Viel L, Shewen P, Nagy E.Equine rhinitis A virus (ERAV) is an ubiquitous virus, routinely identified in equine respiratory infections; however, its role in disease and genetic features are not well defined due to a lack of genomic characterization of the recovered isolates. Therefore, we sequenced the full-length genome of a Canadian ERAV (ERAV/ON/05) and compared it with other ERAV sequences currently available in GenBank. The ERAV/ON/05 genome is 7,839 nucleotides (nts) in length with a variable 5'UTR and a more conserved 3'UTR. When ERAV/ON/05 was compared to other reported ERAV isolates, an insertion of 13 nt in t...
Nonprimate hepaciviruses in domestic horses, United kingdom.
Emerging infectious diseases    November 23, 2012   Volume 18, Issue 12 1976-1982 doi: 10.3201/eid1812.120498
Lyons S, Kapoor A, Sharp C, Schneider BS, Wolfe ND, Culshaw G, Corcoran B, McGorum BC, Simmonds P.Although the origin of hepatitis C virus infections in humans remains undetermined, a close homolog of this virus, termed canine hepacivirus (CHV) and found in respiratory secretions of dogs, provides evidence for a wider distribution of hepaciviruses in mammals. We determined frequencies of active infection among dogs and other mammals in the United Kingdom. Samples from dogs (46 respiratory, 99 plasma, 45 autopsy samples) were CHV negative by PCR. Screening of 362 samples from cats, horses, donkeys, rodents, and pigs identified 3 (2%) positive samples from 142 horses. These samples were gene...
An integration of external information for foreign stallions into the Belgian genetic evaluation for jumping horses.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    November 23, 2012   Volume 130, Issue 3 209-217 doi: 10.1111/jbg.12018
Vandenplas J, Janssens S, Buys N, Gengler N.The aim of this study was to test the integration of external information, i.e. foreign estimated breeding values (EBV) and the associated reliabilities (REL), for stallions into the Belgian genetic evaluation for jumping horses. The Belgian model is a bivariate repeatability Best Linear Unbiased Prediction animal model only based on Belgian performances, while Belgian breeders import horses from neighbouring countries. Hence, use of external information is needed as prior to achieve more accurate EBV. Pedigree and performance data contained 101382 horses and 712212 performances, respectively....
Epidemiology and genetic characterization of equine infectious anaemia virus strains isolated in Belgium in 2010.
Transboundary and emerging diseases    November 22, 2012   Volume 61, Issue 5 464-468 doi: 10.1111/tbed.12031
Caij AB, Tignon M.In January 2010, the United Kingdom notified cases of equine infectious anaemia (EIA) in two horses introduced from Belgium. The animals came from one assembly centre in Romania and had transited through Belgium with 16 other horses. Nine of them, bought by a Belgian horse breeder, were investigated in Belgium and revealed one additional EIA-positive animal. Afterwards, the Belgian Federal Agency for the Safety of the Food Chain (FASFC) organized a serological EIA survey of the horses introduced into Belgium from Romania between 2007 and 2009. Among the 95 horses identified, six additional ser...
True blue: S-opsin is widely expressed in different animal species.
Journal of animal physiology and animal nutrition    November 22, 2012   Volume 98, Issue 1 32-42 doi: 10.1111/jpn.12016
Amann B, Hirmer S, Hauck SM, Kremmer E, Ueffing M, Deeg CA.Colour vision in animals is an interesting, fascinating subject. In this study, we examined a wide variety of species for expression of S-opsin (blue sensitive) and M-/L-opsin (green-red sensitive) in retinal cones using two novel monoclonal antibodies specific for peptides from human opsins. Mouse, rat and hare did not express one of the investigated epitopes, but we could clearly prove existence of cones through peanut agglutinin labelling. Retinas of guinea pig, dog, wolf, marten, cat, roe deer, pig and horse were positive for S-opsin, but not for M-/L-opsin. Nevertheless all these species ...
Genetic characterization by composite sequence analysis of a new pathogenic field strain of equine infectious anemia virus from the 2006 outbreak in Ireland.
The Journal of general virology    November 21, 2012   Volume 94, Issue Pt 3 612-622 doi: 10.1099/vir.0.047191-0
Quinlivan M, Cook F, Kenna R, Callinan JJ, Cullinane A.Equine infectious anemia virus (EIAV), the causative agent of equine infectious anaemia (EIA), possesses the least-complex genomic organization of any known extant lentivirus. Despite this relative genetic simplicity, all of the complete genomic sequences published to date are derived from just two viruses, namely the North American EIAV(WYOMING) (EIAV(WY)) and Chinese EIAV(LIAONING) (EIAV(LIA)) strains. In 2006, an outbreak of EIA occurred in Ireland, apparently as a result of the importation of contaminated horse plasma from Italy and subsequent iatrogenic transmission to foals. This EIA out...
Human chorionic gonadotropin-dependent up-regulation of epiregulin and amphiregulin in equine and bovine follicles during the ovulatory process.
General and comparative endocrinology    November 21, 2012   Volume 180 39-47 doi: 10.1016/j.ygcen.2012.10.012
Sayasith K, Lussier J, Doré M, Sirois J.Little is known about the expression and regulation of epiregulin (EREG) and amphiregulin (AREG) in ovarian follicles of large monoovulatory animal species. To characterize the gonadotropin-dependent regulation of EREG and AREG mRNAs in equine follicles prior to ovulation, extracts were prepared from equine follicles collected during estrus between 0 and 39h post-hCG and corpora lutea obtained on day 8 of the estrous cycle (day 0=day of ovulation). Results from RT-PCR/Southern blot analyses showed that levels of EREG and AREG mRNAs were very low in follicles obtained at 0h but increased therea...
Complete genome sequence of equine herpesvirus type 9.
Journal of virology    November 21, 2012   Volume 86, Issue 24 13822 doi: 10.1128/JVI.02607-12
Fukushi H, Yamaguchi T, Yamada S.Equine herpesvirus type 9 (EHV-9), which we isolated from a case of epizootic encephalitis in a herd of Thomson's gazelles (Gazella thomsoni) in 1993, has been known to cause fatal encephalitis in Thomson's gazelle, giraffe, and polar bear in natural infections. Our previous report indicated that EHV-9 was similar to the equine pathogen equine herpesvirus type 1 (EHV-1), which mainly causes abortion, respiratory infection, and equine herpesvirus myeloencephalopathy. We determined the genome sequence of EHV-9. The genome has a length of 148,371 bp and all 80 of the open reading frames (ORFs) fo...
A potential link between insulin resistance and iron overload disorder in browsing rhinoceroses investigated through the use of an equine model.
Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians    November 20, 2012   Volume 43, Issue 3 Suppl S61-S65 doi: 10.1638/2011-0145.1
Nielsen BD, Vick MM, Dennis PM.Iron overload disorder afflicts captive rhinoceros but has not been documented in the wild. The specific cause for the disorder has not been identified but is likely associated with diet and management. Compared with wild counterparts, captive rhinoceros eat diets containing more iron, have greater fat stores, and exercise less. It has been suggested that the problem may be linked to development of insulin resistance in the captive population. Given that controlled experiments with sufficient numbers of rhinoceros are logistically not possible, an equine model was used to look for a relationsh...
Role of KCNQ2 and KCNQ3 genes in juvenile idiopathic epilepsy in Arabian foals.
Veterinary journal (London, England : 1997)    November 20, 2012   Volume 196, Issue 1 57-63 doi: 10.1016/j.tvjl.2012.08.024
Lichter-Peled A, Polani S, Stanyon R, Rocchi M, Kahila Bar-Gal G.Juvenile idiopathic epilepsy (JIE) in Arabian foals resembles benign-familial neonatal convulsion (BFNC) syndrome, a rare idiopathic epilepsy of new-born humans. BFNC syndrome exhibits genetic heterogeneity, as has been hypothesised to occur in Arabian foals, and is known to be caused by mutations in the voltage-gated potassium channel subunit KCNQ2 and KCNQ3 genes. The close phenotypic characteristics of both Arabian foals and children suggest these epileptic syndromes are caused by the same genetic disorder. In horses, the KCNQ2 and KCNQ3 genes are located on the terminal region of chromosom...
Population genetics of Parascaris equorum based on DNA fingerprinting.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases    November 17, 2012   Volume 13 236-241 doi: 10.1016/j.meegid.2012.09.022
Tydén E, Morrison DA, Engström A, Nielsen MK, Eydal M, Höglund J.The large roundworm of horses, Parascaris equorum is considered ubiquitous in breeding operations, and is regarded as a most important helminth pathogen of foals. Over the past decade, this parasite has been reported increasingly resistant to anthelmintic drugs worldwide. This paper reports analysis of the population genetic structure of P. equorum. Adult parasites (n=194) collected from Sweden, Norway, Iceland, Germany, Brazil and the USA were investigated by amplified restriction fragment length polymorphism (AFLP) analysis. The genetic variation was low (Hj=0.12-0.4), for the global populat...
Genome sequence of the Corynebacterium pseudotuberculosis Cp316 strain, isolated from the abscess of a Californian horse.
Journal of bacteriology    November 13, 2012   Volume 194, Issue 23 6620-6621 doi: 10.1128/JB.01616-12
Ramos RT, Silva A, Carneiro AR, Pinto AC, Soares Sde C, Santos AR, Almeida SS, Guimarães LC, Aburjaile FF, Barbosa EG, Dorella FA, Rocha FS....The bacterium Corynebacterium pseudotuberculosis is of major veterinary importance because it affects livestock, particularly sheep, goats, and horses, in several countries, including Australia, Brazil, the United States, and Canada, resulting in significant economic losses. In the present study, we describe the complete genome of the Corynebacterium pseudotuberculosis Cp316 strain, biovar equi, isolated from the abscess of a North American horse.
O(6)-methylguanine-DNA methyltransferase in equine sarcoids: molecular and epigenetic analysis.
BMC veterinary research    November 10, 2012   Volume 8 218 doi: 10.1186/1746-6148-8-218
Altamura G, Strazzullo M, Corteggio A, Francioso R, Roperto F, D'Esposito M, Borzacchiello G.Bovine papillomaviruses (BPVs) types 1 and 2 are the only known papillomaviruses able to jump the species. In fact, BPVs 1/2 induce neoplasia in their natural bovine host but infection is also associated to neoplastic skin lesions in equids termed sarcoids. The equine sarcoid is considered to be the most common equine cutaneous tumour worldwide for which no effective therapy is available. Very little is known about the molecular mechanisms underlying tumourigenesis, although genes contributing to sarcoid development have been identified. Several studies associate the development of cancer to t...
Crystal structures of wild-type and mutated cyclophilin B that causes hyperelastosis cutis in the American quarter horse.
BMC research notes    November 8, 2012   Volume 5 626 doi: 10.1186/1756-0500-5-626
Boudko SP, Ishikawa Y, Lerch TF, Nix J, Chapman MS, Bächinger HP.Hyperelastosis cutis is an inherited autosomal recessive connective tissue disorder. Affected horses are characterized by hyperextensible skin, scarring, and severe lesions along the back. The disorder is caused by a mutation in cyclophilin B. Results: The crystal structures of both wild-type and mutated (Gly6->Arg) horse cyclophilin B are presented. The mutation neither affects the overall fold of the enzyme nor impairs the catalytic site structure. Instead, it locally rearranges the flexible N-terminal end of the polypeptide chain and also makes it more rigid. Conclusions: Interactions of th...