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Topic:Genotyping

Genotyping in horses involves analyzing the genetic makeup of individual horses to identify specific genetic markers. This process aids in understanding genetic variations that may influence traits such as coat color, disease susceptibility, and performance capabilities. Genotyping can be used in breeding programs to select for desirable traits and manage genetic diversity within populations. Common methods for genotyping include single nucleotide polymorphism (SNP) analysis and microsatellite markers. This page compiles peer-reviewed research studies and scholarly articles that explore the methodologies, applications, and implications of genotyping in equine genetics and breeding.
Polymorphism and selection in the major histocompatibility complex DRA and DQA genes in the family Equidae.
Immunogenetics    June 26, 2009   Volume 61, Issue 7 513-527 doi: 10.1007/s00251-009-0380-0
Janova E, Matiasovic J, Vahala J, Vodicka R, Van Dyk E, Horin P.The major histocompatibility complex genes coding for antigen binding and presenting molecules are the most polymorphic genes in the vertebrate genome. We studied the DRA and DQA gene polymorphism of the family Equidae. In addition to 11 previously reported DRA and 24 DQA alleles, six new DRA sequences and 13 new DQA alleles were identified in the genus Equus. Phylogenetic analysis of both DRA and DQA sequences provided evidence for trans-species polymorphism in the family Equidae. The phylogenetic trees differed from species relationships defined by standard taxonomy of Equidae and from trees...
Neuropathogenic and non-neuropathogenic genotypes of Equid Herpesvirus type 1 in Argentina.
Veterinary microbiology    June 21, 2009   Volume 139, Issue 3-4 361-364 doi: 10.1016/j.vetmic.2009.06.025
Vissani MA, Becerra ML, Olguín Perglione C, Tordoya MS, Miño S, Barrandeguy M.Infection with Equid Herpesvirus type 1 (EHV-1) leads to respiratory disease, abortion, and neurological disorders in horses. Molecular epidemiology studies have demonstrated that a single nucleotide polymorphism (A(2254)/G(2254)) in the genome region of the open reading frame 30 (ORF30), which results in an amino acid variation (N(752)/D(752)) of the EHV-1 DNA polymerase, is significantly associated with the neuropathogenic potential of naturally occurring strains. In order to estimate the prevalence of the EHV-1 neuropathogenic genotype in our country, we analyzed the ORF30 genome region of ...
Fine mapping a quantitative trait locus on horse chromosome 2 associated with radiological signs of navicular disease in Hanoverian warmblood horses.
Animal genetics    June 3, 2009   Volume 40, Issue 6 955-957 doi: 10.1111/j.1365-2052.2009.01923.x
Lopes MS, Diesterbeck U, da Câmara Machado A, Distl O.Navicular disease or podotrochlosis is one of the main causes of progressive forelimb lameness in warmblood horses. The objective of this study was to refine a quantitative trait locus on horse chromosome 2 for radiological alterations in the contour of the navicular bone (RAC) in Hanoverian warmblood horses. Genotyping was performed in 192 Hanoverian warmblood horses from 17 paternal half-sib groups. The marker set was extended to 58 informative microsatellites including nine newly developed microsatellites. QTL for RAC could be delineated at 32.50-43.13 Mb and a further new QTL for RAC could...
Combining microsatellite and pedigree data to estimate relationships among Skyros ponies.
Journal of applied genetics    May 13, 2009   Volume 50, Issue 2 133-143 doi: 10.1007/BF03195664
Bomcke E, Gengler N.Relationship coefficients are particularly useful to improve genetic management of endangered populations. These coefficients are traditionally based on pedigree data, but in case of incomplete or inexistent pedigrees they are replaced by coefficients calculated from molecular data. The main objective of this study was to develop a new method to estimate relationship coefficients by combining molecular with pedigree data, which is useful for specific situations where neither pedigree nor molecular data are complete. The developed method was applied to contribute to the conservation of the Skyr...
Seven novel KIT mutations in horses with white coat colour phenotypes.
Animal genetics    May 6, 2009   Volume 40, Issue 5 623-629 doi: 10.1111/j.1365-2052.2009.01893.x
Haase B, Brooks SA, Tozaki T, Burger D, Poncet PA, Rieder S, Hasegawa T, Penedo C, Leeb T.White coat colour in horses is inherited as a monogenic autosomal dominant trait showing a variable expression of coat depigmentation. Mutations in the KIT gene have previously been shown to cause white coat colour phenotypes in pigs, mice and humans. We recently also demonstrated that four independent mutations in the equine KIT gene are responsible for the dominant white coat colour phenotype in various horse breeds. We have now analysed additional horse families segregating for white coat colour phenotypes and report seven new KIT mutations in independent Thoroughbred, Icelandic Horse, Germ...
In silico detection and characteristics of novel microRNA genes in the Equus caballus genome using an integrated ab initio and comparative genomic approach.
Genomics    May 3, 2009   Volume 94, Issue 2 125-131 doi: 10.1016/j.ygeno.2009.04.006
Zhou M, Wang Q, Sun J, Li X, Xu L, Yang H, Shi H, Ning S, Chen L, Li Y, He T, Zheng Y.The importance of microRNAs at the post-transcriptional regulation level has recently been recognized in both animals and plants. We used the simple but effective sequential method of first Blasting known animal miRNAs against the horse genome and then using the located candidates to search for novel miRNAs by RNA folding method in the vicinity (+ -500 bp) of the candidates. Here, a total of 407 novel horse miRNA genes including 354 mature miRNAs were identified, of these, 75 miRNAs were grouped into 32 families based on seed sequence identity. MiRNA genes tend to be present as clusters in som...
Microsatellite loci in urine supernatant and stored samples from racehorses.
American journal of veterinary research    May 2, 2009   Volume 70, Issue 5 648-657 doi: 10.2460/ajvr.70.5.648
Chen JW, Uboh CE, Soma LR, Li X, Guan F, You Y.To evaluate whether urine supernatant contains amplifiable DNA and to determine factors that influence genotyping of samples from racehorses after storage and transportation. Methods: 580 urine, 279 whole blood, and 40 plasma samples obtained from 261 Thoroughbreds and Standardbreds. Methods: Genomic DNA was isolated from stored blood and urine samples collected from racehorses after competition. Quantified DNA was evaluated to determine whether 5 equine microsatellite loci (VHL20, HTG4, AHT4, HMS6, and HMS7) could be amplified by use of PCR techniques. Fragment size of each amplified locus wa...
Polymorphisms in SPINK5 do not associate with insect bite hypersensitivity in Icelandic horses born in Sweden.
Animal genetics    April 20, 2009   Volume 40, Issue 5 790-791 doi: 10.1111/j.1365-2052.2009.01890.x
Andersson LS, Högström C, Mikko S, Eriksson S, Grandinson K, Broström H, Frey R, Sundquist M, Lindgren G.No abstract available
Cryptococcosis in domestic animals in Western Australia: a retrospective study from 1995-2006.
Medical mycology    March 24, 2009   Volume 47, Issue 6 625-639 doi: 10.1080/13693780802512519
McGill S, Malik R, Saul N, Beetson S, Secombe C, Robertson I, Irwin P.A retrospective study of cryptococcosis in domestic animals residing in Western Australia was conducted over an 11-year-period (from 1995 to 2006) by searching the data base of Murdoch University Veterinary Teaching hospital and the largest private clinical pathology laboratory in Perth. Cryptococcosis was identified in 155 animals: 72 cats, 57 dogs, 20 horses, three alpacas, two ferrets and a sheep. There was no seasonal trend apparent from the dates of diagnosis. Taking into account the commonness of accessions to Murdoch University, cats were five to six times more likely to develop this di...
Refinement of a quantitative trait locus on equine chromosome 5 responsible for fetlock osteochondrosis in Hanoverian warmblood horses.
Animal genetics    March 20, 2009   Volume 40, Issue 4 553-555 doi: 10.1111/j.1365-2052.2009.01865.x
Lampe V, Dierks C, Distl O.In this report, we provide 29 new informative microsatellites distributed over a region of 21 Mb on horse chromosome (ECA) 5 and refine a quantitative trait locus (QTL) for fetlock osteochondrosis dissecans (OCD) to a genome-wide significant interval between 78.03 and 90.23 Mb on ECA5. Genotyping was performed in 211 Hanoverian warmblood horses from 14 paternal half-sib groups. Within this OCD-QTL, collagen type XXIV alpha 1 was identified as a potential functional candidate gene for equine osteochondrosis. This report is a further step towards unravelling the genes that cause equine osteochon...
The candidate gene XIRP2 at a quantitative gene locus on equine chromosome 18 associated with osteochondrosis in fetlock and hock joints of South German Coldblood horses.
The Journal of heredity    March 20, 2009   Volume 100, Issue 4 481-486 doi: 10.1093/jhered/esp006
Wittwer C, Hamann H, Distl O.A whole-genome scan for radiological signs of osteochondrosis (OC) and osteochondrosis dissecans (OCD) in South German Coldblood (SGC) horses using 250 microsatellite markers identified a genome-wide significant quantitative trait locus (QTL) for fetlock OCD and a chromosome-wide QTL for hock OC on Equus caballus chromosome (ECA) 18 at a relative position of 45.9-78.2 cM. The aim of this study was to analyze associations of single-nucleotide polymorphisms (SNPs) in candidate genes for OC in this QTL region using 96 SGC horses. The OC-QTL on ECA18 could be confirmed and narrowed down to an inte...
An entropy-optimized multilocus approach for characterizing the strains of Anaplasma phagocytophilum infecting horses in the Czech Republic.
Journal of medical microbiology    March 11, 2009   Volume 58, Issue Pt 4 423-429 doi: 10.1099/jmm.0.007831-0
Zeman P, Jahn P.Anaplasma phagocytophilum is a tick-borne rickettsial pathogen that has measurable genetic heterogeneity across its geographical range and reservoir spectrum. In the present study, publicly available sequences of the genes that have prevailingly been used for typing A. phagocytophilum were analysed to identify the segments giving the highest resolution with respect to the predictability of host and geographical provenances of the strains. Selected partial sequences of 16S rRNA, groL, msp4 and ank genes were then employed in a tentative multilocus typing scheme used to characterize the strains ...
A rapid detection method for the ryanodine receptor 1 (C7360G) mutation in Quarter Horses.
Journal of veterinary internal medicine    March 9, 2009   Volume 23, Issue 3 619-622 doi: 10.1111/j.1939-1676.2009.0281.x
Nieto JE, Aleman M.Anesthetic-induced malignant hyperthermia has been documented in Quarter Horses and is caused by a single-point mutation in the ryanodine receptor 1 gene at nucleotide C7360G generating a R2454G amino acid substitution. An accurate, faster molecular test that is less prone to contamination would facilitate screening for the mutation in horses intended for breeding, in those undergoing surgical procedures, and in those with clinical signs compatible with malignant hyperthermia. Objective: To report a rapid and accurate method for the detection of the ryanodine receptor 1 C7360G mutation. Method...
A highly sensitive method for the detection and genotyping of West Nile virus by real-time PCR.
Journal of virological methods    January 10, 2009   Volume 157, Issue 2 155-160 doi: 10.1016/j.jviromet.2008.12.014
Zaayman D, Human S, Venter M.In recent years, West Nile virus has been responsible for outbreaks in regions where it has not previously been found. Five genetic lineages with specific geographic distributions exist. Recent outbreaks of WNV associated with the introduction of lineage 1 strains into the western hemisphere, together with the emergence of lineage 2 WNV in Central Europe, has highlighted the potential for spread of pathogenic WNV strains beyond their expected geographical boundaries. Therefore, genotyping of WNV strains may have important applications in surveillance and epidemiology. We report here the develo...
Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.
Journal of the American Veterinary Medical Association    January 6, 2009   Volume 234, Issue 1 120-125 doi: 10.2460/javma.234.1.120
Tryon RC, Penedo MC, McCue ME, Valberg SJ, Mickelson JR, Famula TR, Wagner ML, Jackson M, Hamilton MJ, Nooteboom S, Bannasch DL.To estimate allele frequencies of the hyperkalaemic periodic paralysis (HYPP), lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED), hereditary equine regional dermal asthenia (HERDA), and type 1 polysaccharide storage myopathy (PSSM) genes in elite performance subgroups of American Quarter Horses (AQHs). Methods: Prospective genetic survey. Methods: 651 elite performance AQHs, 200 control AQHs, and 180 control American Paint Horses (APHs). Methods: Elite performance AQHs successful in 7 competitive disciplines (barrel racing, cutting, halter, racing, reining, western...
Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6.
BMC genetics    December 19, 2008   Volume 9 88 doi: 10.1186/1471-2156-9-88
Andersson LS, Juras R, Ramsey DT, Eason-Butler J, Ewart S, Cothran G, Lindgren G.Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome consists of a diverse set of abnormalities predominantly localized to the frontal part of the eye. The disease is in agreement with a codominant mode of inheritance in our horse material. Animals presumed to be heterozygous for the mutant allele have cysts originating from the temporal ciliary body, peripheral retina and/or iris. In contrast, animals predicted to be homozygous for the disease-causing allele possess a wide range of multiple abnormalities, including iridociliary and/or peripheral retinal cysts, iridocorneal angle abnorm...
[Applications of SSCP and HMA for polymorphic analysis of horse MHC-I alleles].
Yi chuan = Hereditas    December 17, 2008   Volume 30, Issue 12 1635-1639 doi: 10.3724/sp.j.1005.2008.01635
Xiang W, Ma J, Wang XF, Zhao YJ, Zhou JH.In this article, we report the analysis of genetic polymorphisms of horse MHC-I molecules by SSCP and HMA, which are methods based on the technique of polyacrylamide gel electrophoresis (PAGE). Our results showed that SSCP was not a suitable method for the analysis of genetic polymorphisms of horse MHC-I molecules due to the failure in generating satisfied separation of DNA fragments, even if experimental conditions were optimized. However, the HMA method produced clearly separated DNA fragments of horse MHC-I molecules, after the experimental conditions, such as the running temperature and th...
Phenotypic and genotypic characterization of Arcanobacterium haemolyticum isolates from infections of horses.
Journal of clinical microbiology    November 19, 2008   Volume 47, Issue 1 124-128 doi: 10.1128/JCM.01933-08
Hassan AA, Ulbegi-Mohyla H, Kanbar T, Alber J, Lämmler C, Abdulmawjood A, Zschöck M, Weiss R.The present study was designed to characterize phenotypically and genotypically seven Arcanobacterium haemolyticum strains obtained from infections of six horses. All seven strains showed the cultural and biochemical properties typical of A. haemolyticum and were susceptible to most of the antibiotics tested. The species identification could be confirmed by amplification and sequencing of the 16S rRNA gene and the 16S-23S rRNA intergenic spacer region and by PCR amplification of species-specific parts of the gene encoding phospholipase D in A. haemolyticum. Use of the latter could possibly imp...
Genetic characterization and polymorphisms for parentage testing of the Jeju horse using 20 microsatellite loci.
The Journal of veterinary medical science    November 5, 2008   Volume 70, Issue 10 1111-1115 doi: 10.1292/jvms.70.1111
Choi SK, Cho CY, Yeon SH, Cho BW, Cho GJ.Genetic characterization of the Jeju horse (JH) was performed to construct a correct pedigree of the JH family. A total of 111 horses including 79 JH were genotyped using 20 microsatellite loci. The number of alleles varied from 5 to 11 (mean 7.45) in the JH. The observed heterozygosity and expected heterozygosity ranged from 0.293 to 0.891 and from 0.357 to 0.841, respectively. The polymorphic information contents (PIC) ranged from 0.335 to 0.816. AHT4, ASB2, ASB17, ASB23, CA425, HMS2, HMS3, HTG10, LEX3 and VHL20 loci had relatively high PIC values (> 0.7). The total exclusion probability ...
Sequence heterogeneity in the 18S rRNA gene within Theileria equi and Babesia caballi from horses in South Africa.
Veterinary parasitology    October 11, 2008   Volume 159, Issue 2 112-120 doi: 10.1016/j.vetpar.2008.10.004
Bhoora R, Franssen L, Oosthuizen MC, Guthrie AJ, Zweygarth E, Penzhorn BL, Jongejan F, Collins NE.A molecular epidemiological survey of the protozoal parasites that cause equine piroplasmosis was conducted using samples collected from horses and zebra from different geographical locations in South Africa. A total of 488 samples were tested for the presence of Theileria equi and/or Babesia caballi using the reverse line blot hybridization assay. Ten percent of the samples hybridized to the Theileria/Babesia genus-specific probe and not to the B. caballi or T. equi species-specific probes, suggesting the presence of a novel species or genotype. The small subunit of rRNA gene (18S; approximat...
Single nucleotide polymorphisms of interleukin-1 beta related genes and their associations with infection in the horse.
Developments in biologicals    September 27, 2008   Volume 132 347-351 doi: 10.1159/000317184
Horin P, Osickova J, Necesankova M, Matiasovic J, Musilova P, Kubickova S, Hubertova D, Vyskocil M, Rubes J.In previous work, we found significant associations of horse chromosome 15 (ECA15) microsatellite markers HMSO1 and HTG06 with two horse infections, Rhodococcus equi and Lawsonia intracellularis, respectively. Interleukin-1 beta subunit and interleukin-1 receptor antagonist encoding genes (IL1B and IL1RN) could be considered as candidate genes underlying the associations reported. Therefore, we identified single nucleotide polymorphisms (SNPs) within three interleukin-1 beta functionally related genes: IL1B, IL1RN and Casp1 (interleukin-1 beta converting enzyme/caspasel encoding gene). Using a...
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
PLoS genetics    September 19, 2008   Volume 4, Issue 9 e1000195 doi: 10.1371/journal.pgen.1000195
Cook D, Brooks S, Bellone R, Bailey E.Champagne coat color in horses is controlled by a single, autosomal-dominant gene (CH). The phenotype produced by this gene is valued by many horse breeders, but can be difficult to distinguish from the effect produced by the Cream coat color dilution gene (CR). Three sires and their families segregating for CH were tested by genome scanning with microsatellite markers. The CH gene was mapped within a 6 cM region on horse chromosome 14 (LOD = 11.74 for theta = 0.00). Four candidate genes were identified within the region, namely SPARC [Secreted protein, acidic, cysteine-rich (osteonectin)], SL...
Development of an ELA-DRA gene typing method based on pyrosequencing technology.
Tissue antigens    August 26, 2008   Volume 72, Issue 5 464-468 doi: 10.1111/j.1399-0039.2008.01113.x
Díaz S, Echeverría MG, It V, Posik DM, Rogberg-Muñoz A, Pena NL, Peral-García P, Vega-Pla JL, Giovambattista G.The polymorphism of equine lymphocyte antigen (ELA) class II DRA gene had been detected by polymerase chain reaction-single-strand conformational polymorphism (PCR-SSCP) and reference strand-mediated conformation analysis. These methodologies allowed to identify 11 ELA-DRA exon 2 sequences, three of which are widely distributed among domestic horse breeds. Herein, we describe the development of a pyrosequencing-based method applicable to ELA-DRA typing, by screening samples from eight different horse breeds previously typed by PCR-SSCP. This sequence-based method would be useful in high-throug...
Glycogen synthase 1 (GYS1) mutation in diverse breeds with polysaccharide storage myopathy.
Journal of veterinary internal medicine    August 6, 2008   Volume 22, Issue 5 1228-1233 doi: 10.1111/j.1939-1676.2008.0167.x
McCue ME, Valberg SJ, Lucio M, Mickelson JR.A missense mutation in the GYS1 gene was recently described in horses with polysaccharide storage myopathy (PSSM). Objective: The first objective was to determine the prevalence of the GYS1 mutation in horses with PSSM from diverse breeds. The second objective was to determine if the prevalence of the GYS1 mutation differed between horses diagnosed with PSSM based on grade 1 (typically amylase-sensitive) or grade 2 (typically amylase-resistant) polysaccharide. Methods: Eight hundred and thirty-one PSSM horses from 36 breeds. Methods: Horses with PSSM diagnosed by histopathology of skeletal mus...
Hepatitis E virus infection among domestic animals in eastern China.
Zoonoses and public health    July 22, 2008   Volume 55, Issue 6 291-298 doi: 10.1111/j.1863-2378.2008.01136.x
Zhang W, Shen Q, Mou J, Gong G, Yang Z, Cui L, Zhu J, Ju G, Hua X.Hepatitis E virus (HEV) is a zoonotic pathogen of which several species of animal were reported as reservoirs. Antibodies to HEV and HEV RNA have been detected in some Chinese population and swine groups but few other domestic animals. In this study, to investigate the HEV prevalence, we tested sera from 788 pigs, 100 cows, 50 goats, 49 horses, 101 pet dogs, 105 chickens, 47 duck and 45 pigeons in eastern China for anti-HEV immunoglobulin G (IgG). We also tested 50% of the swine sera, all of sera from the other domestic animals and 13 Shanghai human sera which were positive for anti-HEV immuno...
Genetic diversity and admixture analysis of Sanfratellano and three other Italian horse breeds assessed by microsatellite markers.
Animal : an international journal of animal bioscience    July 1, 2008   Volume 2, Issue 7 991-998 doi: 10.1017/S1751731108002255
Zuccaro A, Bordonaro S, Criscione A, Guastella AM, Perrotta G, Blasi M, D'Urso G, Marletta D.Sanfratellano is a native Sicilian horse breed, mainly reared in the north east of the Island, developed in the 19th century from local dams and sires with a restricted introgression of Oriental, African and, more recently, Maremmano stallions. In this study, the genetic relationships and admixture among Sanfratellano, the other two Sicilian autochthonous breeds and Maremmano breed were assessed using a set of microsatellites. The main goals were to infer the impact of Maremmano breed in the current Sanfratellano horse and to provide genetic information useful to improve the selection strategi...
Potential applications of equine genomics in dissecting diseases and fertility.
Animal reproduction science    April 29, 2008   Volume 107, Issue 3-4 208-218 doi: 10.1016/j.anireprosci.2008.04.010
Chowdhary BP, Paria N, Raudsepp T.Following the recent development of high-resolution gene maps and generation of several basic tools and resources to use them in analyzing traits that are economically important to horse owners, genome analysis in horses is witnessing a shift towards developing an ability to analyze complex traits. The likelihood of this happening in the very near future is great, mainly because of the recent availability of the whole genome sequence in the horse. The latter has triggered the development of novel tools like SNP-chip and expression arrays that will permit rapid genome-wide analysis. While these...
Dermatophilus congolensis-associated placentitis, funisitis and abortion in a horse.
Transboundary and emerging diseases    April 15, 2008   Volume 55, Issue 3-4 183-185 doi: 10.1111/j.1865-1682.2007.00981.x
Sebastian MM, Giles RC, Donahu JM, Sells SF, Fallon L, Vickers ML.Placentitis, funisitis and fetal bronchopneumonia were diagnosed in an aborted full-term Thoroughbred fetus and its placenta by histopathological examination. Dermatophilus congolensis organisms were isolated from placenta, lung and stomach content. The genotypic identification of aerobic culture was confirmed by sequential analysis of the entire 16S rDNA gene. This is the first report of Dermatophilus congolensis-associated abortion in any species.
An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds.
Animal genetics    April 10, 2008   Volume 39, Issue 3 306-309 doi: 10.1111/j.1365-2052.2008.01715.x
Haase B, Jude R, Brooks SA, Leeb T.The tobiano white-spotting pattern is one of several known depigmentation phenotypes in horses and is desired by many horse breeders and owners. The tobiano spotting phenotype is inherited as an autosomal dominant trait. Horses that are heterozygous or homozygous for the tobiano allele (To) are phenotypically indistinguishable. A SNP associated with To had previously been identified in intron 13 of the equine KIT gene and was used for an indirect gene test. The test was useful in several horse breeds. However, genotyping this sequence variant in the Lewitzer horse breed revealed that 14% of ho...
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
Genomics    March 20, 2008   Volume 91, Issue 5 458-466 doi: 10.1016/j.ygeno.2008.01.011
McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR.Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion. It is unlike glycogen storage diseases resulting from known defects in glycogenolysis, glycolysis, and glycogen synthesis that have been described in humans and domestic animals. A genome-wide association identified GYS1, encoding skeletal muscle glycogen synthase (GS), as a candidate gene for PSSM. DNA sequence analysis revealed a mutation resulting in an arginine-to-histidine substitution in a highly conserved region of G...
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