Omneity® Pellets
All-In-One Vitamin & Mineral Pellet
Cytogenetic and genome research.
Periodical
Genetics
Cytogenetics
Genomics
Publisher:
S. Karger,
Frequency: Sixteen no. a year
Country: Switzerland
Language: English
Start Year:2002 -
ISSN:
1424-8581 (Print)
1424-859X (Electronic)
1424-8581 (Linking)
1424-859X (Electronic)
1424-8581 (Linking)
Impact Factor
1.7
| NLM ID: | 101142708 |
| (OCoLC): | 50698625 |
| LCCN: | 2002260266 |
| Classification: | W1 CY755 |
FISH analysis comparing genome organization in the domestic horse (Equus caballus) to that of the Mongolian wild horse (E. przewalskii).
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 222-225 doi: 10.1159/000075753
Myka JL, Lear TL, Houck ML, Ryder OA, Bailey E.Przewalski's wild horse (E. przewalskii, EPR) has a diploid chromosome number of 2n = 66 while the domestic horse (E. caballus, ECA) has a diploid chromosome number of 2n = 64. Discussions about their phylogenetic relationship and taxonomic classification have hinged on comparisons of their skeletal morphology, protein and mitochondrial DNA similarities, their ability to produce fertile hybrid offspring, and on comparison of their chromosome morphology and banding patterns. Previous studies of GTG-banded karyotypes suggested that the chromosomes of both equids were homologous and the differenc... Read More
12
An ordered BAC contig map of the equine major histocompatibility complex.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 189-195 doi: 10.1159/000075747
Gustafson AL, Tallmadge RL, Ramlachan N, Miller D, Bird H, Antczak DF, Raudsepp T, Chowdhary BP, Skow LC.A physical map of ordered bacterial artificial chromosome (BAC) clones was constructed to determine the genetic organization of the horse major histocompatibility complex. Human, cattle, pig, mouse, and rat MHC gene sequences were compared to identify highly conserved regions which served as source templates for the design of overgo primers. Thirty-five overgo probes were designed from 24 genes and used for hybridization screening of the equine USDA CHORI 241 BAC library. Two hundred thirty-eight BAC clones were assembled into two contigs spanning the horse MHC region. The first contig contain... Read More
31
Genetic variation in Przewalski’s horses, with special focus on the last wild caught mare, 231 Orlitza III.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 226-234 doi: 10.1159/000075754
Bowling AT, Zimmermann W, Ryder O, Penado C, Peto S, Chemnick L, Yasinetskaya N, Zharkikh T.In our continuing efforts to document genetic diversity in Przewalski's horses and relatedness with domestic horses, we report genetic variation at 22 loci of blood group and protein polymorphisms and 29 loci of DNA (microsatellite) polymorphisms. The loci have been assigned by linkage or synteny mapping to 20 autosomes and the X chromosome of the domestic horse (plus four loci unassigned to a chromosome). With cumulative data from tests of 568 Przewalski's horses using blood, hair or tooth samples, no species-defining markers were identified, however a few markers were present in the wild spe... Read More
15
Molecular characterization and mutational screening of the PRKAG3 gene in the horse.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 211-216 doi: 10.1159/000075751
Park HB, Marklund S, Jeon JT, Mickelson JR, Valberg SJ, Sandberg K, Andersson L.The PRKAG3 gene encodes a muscle-specific isoform of the regulatory gamma subunit of AMP-activated protein kinase (AMPK). A major part of the coding PRKAG3 sequence was isolated from horse muscle cDNA using reverse-transcriptase (RT)-PCR analysis. Horse-specific primers were used to amplify genomic fragments containing 12 exons. Comparative sequence analysis of horse, pig, mouse, human, Fugu, and zebrafish was performed to establish the exon/intron organization of horse PRKAG3 and to study the homology among different isoforms of AMPK gamma genes in vertebrates. The results showed conclusively... Comparative mapping in equids: the asine X chromosome is rearranged compared to horse and Hartmann’s mountain zebra.
Cytogenetic and genome research
November 20, 2002
Volume 96, Issue 1-4 206-209 doi: 10.1159/000063050
Raudsepp T, Lear TL, Chowdhary BP.The X chromosomes of the extant equids, in general, share morphology and banding pattern similarities. However, the donkey X is, in part, an exception because of significantly different centromeric index and variant banding patterns in the pericentromeric region. To verify the underlying molecular basis of this difference, twelve equine BAC clones were FISH mapped to donkey (EAS) and Hartmann's mountain zebra (EZH) metaphase spreads. Loci from the terminal region of Xp and distal to terminal regions of the Xq showed the same order and relative position in all three species, implying cross-spec... Read More
10
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... Read More
35
An ordered BAC contig map of the equine major histocompatibility complex.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 189-195 doi: 10.1159/000075747
Gustafson AL, Tallmadge RL, Ramlachan N, Miller D, Bird H, Antczak DF, Raudsepp T, Chowdhary BP, Skow LC.A physical map of ordered bacterial artificial chromosome (BAC) clones was constructed to determine the genetic organization of the horse major histocompatibility complex. Human, cattle, pig, mouse, and rat MHC gene sequences were compared to identify highly conserved regions which served as source templates for the design of overgo primers. Thirty-five overgo probes were designed from 24 genes and used for hybridization screening of the equine USDA CHORI 241 BAC library. Two hundred thirty-eight BAC clones were assembled into two contigs spanning the horse MHC region. The first contig contain... Read More
31
The horse pseudoautosomal region (PAR): characterization and comparison with the human, chimp and mouse PARs.
Cytogenetic and genome research
June 9, 2008
Volume 121, Issue 2 102-109 doi: 10.1159/000125835
Raudsepp T, Chowdhary BP.The pseudoautosomal region (PAR) is a genomic segment on mammalian sex chromosomes where sequence homology mimics that seen between autosomal homologues. The region is essential for pairing and proper segregation of sex chromosomes during male meiosis. As yet, only human/chimp and mouse PARs have been characterized. The two groups of species differ dramatically in gene content and size of the PAR and therefore do not provide clues about the likely evolution and constitution of PAR among mammals. Here we characterize the equine PAR by i) isolating and arranging 71 BACs containing 129 markers (1... Read More
23
A 4,103 marker integrated physical and comparative map of the horse genome.
Cytogenetic and genome research
October 14, 2008
Volume 122, Issue 1 28-36 doi: 10.1159/000151313
Raudsepp T, Gustafson-Seabury A, Durkin K, Wagner ML, Goh G, Seabury CM, Brinkmeyer-Langford C, Lee EJ, Agarwala R, Stallknecht-Rice E, Schäffer AA....A comprehensive second-generation whole genome radiation hybrid (RH II), cytogenetic and comparative map of the horse genome (2n = 64) has been developed using the 5000rad horse x hamster radiation hybrid panel and fluorescence in situ hybridization (FISH). The map contains 4,103 markers (3,816 RH; 1,144 FISH) assigned to all 31 pairs of autosomes and the X chromosome. The RH maps of individual chromosomes are anchored and oriented using 857 cytogenetic markers. The overall resolution of the map is one marker per 775 kilobase pairs (kb), which represents a more than five-fold improvement over ... Read More
23
Karyotypic relationships of horses and zebras: results of cross-species chromosome painting.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 235-243 doi: 10.1159/000075755
Yang F, Fu B, O'Brien PC, Robinson TJ, Ryder OA, Ferguson-Smith MA.Complete sets of chromosome-specific painting probes, derived from flow-sorted chromosomes of human (HSA), Equus caballus (ECA) and Equus burchelli (EBU) were used to delineate conserved chromosomal segments between human and Equus burchelli, and among four equid species, E. przewalskii (EPR), E. caballus, E. burchelli and E. zebra hartmannae (EZH) by cross-species chromosome painting. Genome-wide comparative maps between these species have been established. Twenty-two human autosomal probes revealed 48 conserved segments in E. burchelli. The adjacent segment combinations HSA3/21, 7/16p, 16q/1... Read More
22
Phylogeny of horse chromosome 5q in the genus Equus and centromere repositioning.
Cytogenetic and genome research
December 9, 2009
Volume 126, Issue 1-2 165-172 doi: 10.1159/000245916
Piras FM, Nergadze SG, Poletto V, Cerutti F, Ryder OA, Leeb T, Raimondi E, Giulotto E.Horses, asses and zebras belong to the genus Equus and are the only extant species of the family Equidae in the order Perissodactyla. In a previous work we demonstrated that a key factor in the rapid karyotypic evolution of this genus was evolutionary centromere repositioning, that is, the shift of the centromeric function to a new position without alteration of the order of markers along the chromosome. In search of previously undiscovered evolutionarily new centromeres, we traced the phylogeny of horse chromosome 5, analyzing the order of BAC markers, derived from a horse genomic library, in... Read More
21
International Equine Gene Mapping Workshop Report: a comprehensive linkage map constructed with data from new markers and by merging four mapping resources.
Cytogenetic and genome research
August 12, 2005
Volume 111, Issue 1 5-15 doi: 10.1159/000085664
Penedo MC, Millon LV, Bernoco D, Bailey E, Binns M, Cholewinski G, Ellis N, Flynn J, Gralak B, Guthrie A, Hasegawa T, Lindgren G, Lyons LA, Røed KH....A comprehensive male linkage map was generated by adding 359 new, informative microsatellites to the International Equine Gene Map half-sibling reference families and by combining genotype data from three independent mapping resources: a full sibling family created at the Animal Health Trust in Newmarket, United Kingdom, eight half-sibling families from Sweden and two half-sibling families from the University of California, Davis. Because the combined data were derived primarily from half-sibling families, only autosomal markers were analyzed. The map was constructed from a total of 766 marker... Read More
17
Genetic variation in Przewalski’s horses, with special focus on the last wild caught mare, 231 Orlitza III.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 226-234 doi: 10.1159/000075754
Bowling AT, Zimmermann W, Ryder O, Penado C, Peto S, Chemnick L, Yasinetskaya N, Zharkikh T.In our continuing efforts to document genetic diversity in Przewalski's horses and relatedness with domestic horses, we report genetic variation at 22 loci of blood group and protein polymorphisms and 29 loci of DNA (microsatellite) polymorphisms. The loci have been assigned by linkage or synteny mapping to 20 autosomes and the X chromosome of the domestic horse (plus four loci unassigned to a chromosome). With cumulative data from tests of 568 Przewalski's horses using blood, hair or tooth samples, no species-defining markers were identified, however a few markers were present in the wild spe... Read More
15
FISH analysis comparing genome organization in the domestic horse (Equus caballus) to that of the Mongolian wild horse (E. przewalskii).
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 222-225 doi: 10.1159/000075753
Myka JL, Lear TL, Houck ML, Ryder OA, Bailey E.Przewalski's wild horse (E. przewalskii, EPR) has a diploid chromosome number of 2n = 66 while the domestic horse (E. caballus, ECA) has a diploid chromosome number of 2n = 64. Discussions about their phylogenetic relationship and taxonomic classification have hinged on comparisons of their skeletal morphology, protein and mitochondrial DNA similarities, their ability to produce fertile hybrid offspring, and on comparison of their chromosome morphology and banding patterns. Previous studies of GTG-banded karyotypes suggested that the chromosomes of both equids were homologous and the differenc... Read More
12
Discovery and comparative analysis of a novel satellite, EC137, in horses and other equids.
Cytogenetic and genome research
October 21, 2014
Volume 144, Issue 2 114-123 doi: 10.1159/000368138
Nergadze SG, Belloni E, Piras FM, Khoriauli L, Mazzagatti A, Vella F, Bensi M, Vitelli V, Giulotto E, Raimondi E.Centromeres are the sites of kinetochore assembly and spindle fiber attachment and consist of protein-DNA complexes in which the DNA component is typically characterized by the presence of extended arrays of tandem repeats called satellite DNA. Here, we describe the isolation and characterization of a 137-bp-long new satellite DNA sequence from the horse genome (EC137), which is also present, even if less abundant, in the domestic donkey, the Grevy's zebra and the Burchelli's zebra. We investigated the chromosomal distribution of the EC137 sequence in these 4 species. Moreover, we analyzed its... Read More
12
Comparative mapping in equids: the asine X chromosome is rearranged compared to horse and Hartmann’s mountain zebra.
Cytogenetic and genome research
November 20, 2002
Volume 96, Issue 1-4 206-209 doi: 10.1159/000063050
Raudsepp T, Lear TL, Chowdhary BP.The X chromosomes of the extant equids, in general, share morphology and banding pattern similarities. However, the donkey X is, in part, an exception because of significantly different centromeric index and variant banding patterns in the pericentromeric region. To verify the underlying molecular basis of this difference, twelve equine BAC clones were FISH mapped to donkey (EAS) and Hartmann's mountain zebra (EZH) metaphase spreads. Loci from the terminal region of Xp and distal to terminal regions of the Xq showed the same order and relative position in all three species, implying cross-spec... Read More
10
Equine clinical cytogenetics: the past and future.
Cytogenetic and genome research
April 30, 2008
Volume 120, Issue 1-2 42-49 doi: 10.1159/000118739
Lear TL, Bailey E.Cytogenetic analyses of horses have benefited the horse industry by identifying chromosomal aberrations causing congenital abnormalities, embryonic loss and infertility. Technical advances in cytogenetics enabled the identification of chromosome specific aberrations. More recently, advances in genomic tools have been used to more precisely define chromosome abnormalities. In this report we review the history of equine clinical cytogenetics, identify historical landmarks for equine clinical cytogenetics, discuss how the current use of genomic tools has benefited this area, and how future genomi... Homologous fission event(s) implicated for chromosomal polymorphisms among five species in the genus Equus.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 217-221 doi: 10.1159/000075752
Myka JL, Lear TL, Houck ML, Ryder OA, Bailey E.The genus Equus is unusual in that five of the ten extant species have documented centric fission (Robertsonian translocation) polymorphisms within their populations, namely E. hemionus onager, E. hemionus kulan, E. kiang, E. africanus somaliensis, and E. quagga burchelli. Here we report evidence that the polymorphism involves the same homologous chromosome segments in each species, and that these chromosome segments have homology to human chromosome 4 (HSA4). Bacterial artificial chromosome clones containing equine genes SMARCA5 (ECA2q21 homologue to HSA4q31. 21) and UCHL1 (ECA3q22 homologue ... Three autosomal chromosome translocations associated with repeated early embryonic loss (REEL) in the domestic horse (Equus caballus).
Cytogenetic and genome research
April 30, 2008
Volume 120, Issue 1-2 117-122 doi: 10.1159/000118749
Lear TL, Lundquist J, Zent WW, Fishback WD, Clark A.Repeated early embryonic loss (REEL) represents a considerable economic loss to the horse industry. Mares that experience REEL may be overlooked as potential carriers of a chromosome abnormality. Here we report three different autosomal translocations in Thoroughbred mares presented for chromosome analysis because of REEL. The karyotypes were 64,XX,t(1;21), 64,XX,t(16;22), and 64,XX,t(4;13), respectively. In order to confirm the chromosomes involved in the translocations, to map the breakpoints, and to determine if the translocations were reciprocal, genes surrounding the breakpoints were iden... Genetic mapping of GBE1 and its association with glycogen storage disease IV in American Quarter horses.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 201-206 doi: 10.1159/000075749
Ward TL, Valberg SJ, Lear TL, Guérin G, Milenkovic D, Swinburne JE, Binns MM, Raudsepp T, Skow L, Chowdhary BP, Mickelson JR.Comparative biochemical and histopathological data suggest that a deficiency in the glycogen branching enzyme (GBE) is responsible for a fatal neonatal disease in Quarter Horse foals that closely resembles human glycogen storage disease type IV (GSD IV). Identification of DNA markers closely linked to the equine GBE1 gene would assist us in determining whether a mutation in this gene leads to the GSD IV-like condition. FISH using BAC clones as probes assigned the equine GBE1 gene to a marker deficient region of ECA26q12-->q13. Four other genes, ROBO2, ROBO1, POU1F1, and HTR1F, that flank GB... Structure of equine 2′-5’oligoadenylate synthetase (OAS) gene family and FISH mapping of OAS genes to ECA8p15–>p14 and BTA17q24–>q25.
Cytogenetic and genome research
August 12, 2005
Volume 111, Issue 1 51-56 doi: 10.1159/000085670
Perelygin AA, Lear TL, Zharkikh AA, Brinton MA.Mammalian 2'-5' oligoadenylate (2-5A) synthetases are important mediators of the antiviral activity of interferons. Both human and mouse 2-5A synthetase gene families encode four forms of enzymes: small, medium, large and ubiquitin-like. In this study, the structures of four equine OAS genes were determined using DNA sequences derived from fifteen cDNA and four BAC clones. Composition of the equine OAS gene family is more similar to that of the human OAS family than the mouse Oas family. Two OAS-containing bovine BAC clones were identified in GenBank. Both equine and bovine BAC clones were phy... The use of molecular and cytogenetic methods as a valuable tool in the detection of chromosomal abnormalities in horses: a case of sex chromosome chimerism in a Spanish purebred colt.
Cytogenetic and genome research
May 30, 2013
Volume 141, Issue 4 277-283 doi: 10.1159/000351225
Demyda-Peyrás S, Membrillo A, Bugno-Poniewierska M, Pawlina K, Anaya G, Moreno-Millán M.Chromosomal abnormalities associated to sex chromosomes are reported as a problem more common than believed to be in horses. Most of them remain undiagnosed due to the complexity of the horse karyotype and the lack of interest of breeders and veterinarians in this type of diagnosis. Approximately 10 years ago, the Spanish Purebred Breeders Association implemented a DNA paternity test to evaluate the pedigree of every newborn foal. All candidates who showed abnormal or uncertain results are routinely submitted to cytogenetical analysis to evaluate the presence of chromosomal abnormalities. We s... Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25).
Cytogenetic and genome research
December 16, 2020
Volume 160, Issue 11-12 688-697 doi: 10.1159/000512206
Ghosh S, Carden CF, Juras R, Mendoza MN, Jevit MJ, Castaneda C, Phelps O, Dube J, Kelley DE, Varner DD, Love CC, Raudsepp T.We report 2 novel autosomal translocations in the horse. In Case 1, a breeding stallion with a balanced t(4p;30) had produced normal foals and those with congenital abnormalities. Of his 9 phenotypically normal offspring, 4 had normal karyotypes, 4 had balanced t(4p;30), and 1 carried an unbalanced translocation with tertiary trisomy of 4p. We argue that unbalanced forms of t(4p;30) are more tolerated and result in viable congenital abnormalities, without causing embryonic death like all other known equine autosomal translocations. In Case 2, two stallions produced by somatic cell nuclear tran... Comparative mapping of oculocutaneous albinism type II (OCA2), transient receptor potential cation channel, subfamily M member 1 (TRPM1) and two equine microsatellites, ASB08 and 1CA43, among four equid species by fluorescence in situ hybridization.
Cytogenetic and genome research
May 24, 2006
Volume 114, Issue 1 93A doi: 10.1159/000091935
Bellone R, Lear T, Adelson DL, Bailey E.No abstract available Sequence analysis of the equine SLC26A2 gene locus on chromosome 14q15–>q21.
Cytogenetic and genome research
September 29, 2007
Volume 118, Issue 1 55-62 doi: 10.1159/000106441
Hansen M, Knorr C, Hall AJ, Broad TE, Brenig B.The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in horses. An equine BAC clone harboring the SLC26A2 gene was isolated. The complete 142,625 bp insert sequence of this clone was determined by transposon sequencing. Together with the SLC26A2 gene the BAC clone contains four genes, i.e. the macrophage colony stimulating factor 1 recep... Equine genomics: galloping to new frontiers.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 184-188 doi: 10.1159/000075746
Chowdhary BP, Bailey E.Analysis of the horse genome is proceeding at a rapid pace. Within a short span of 6-7 years, approximately 1,500 markers have been mapped in horse, of which at least half are genes/ESTs. Health, performance and phenotypic characteristic are of major concern/interest to horse breeders and owners. Current efforts to analyze the equine genome are primarily aimed at developing critical resources (including an advanced gene map) that could readily be used in the near future to i) identify genes and mutations responsible for inherited equine diseases/disorders and to formulate approaches for accura... A case of an intersex horse with 63,X/64,XX/65,XX,del(Y)(q?) karyotype.
Cytogenetic and genome research
April 30, 2008
Volume 120, Issue 1-2 123-126 doi: 10.1159/000118750
Bugno M, Zabek T, Golonka P, Pieńkowska-Schelling A, Schelling C, Słota E.Cytogenetic and molecular genetic studies of an intersex horse have been carried out. The investigated animal had overall male body conformation; however, its external genitalia consisted of incompletely developed vulva and penis. The X and Y chromosome painting probes detected three cell lines in the examined horse: 63,X, 64,XX and 65,XX with a fragment of a Y chromosome (del Y). The DNA analysis with the PCR and PCR/RFLP methods showed absence of SRY,AMELY and ZFY genes as well as of six Y microsatellite markers (YM2, YP9, YJ10, YE1, YH12, and YA16). These results suggest that the Y chromoso... Distribution of MLH1 foci in horse male synaptonemal complex.
Cytogenetic and genome research
December 12, 2013
Volume 142, Issue 2 87-94 doi: 10.1159/000357152
Al-Jaru A, Goodwin W, Skidmore J, Khazanehdari K.Advances in molecular cytogenetics have provided the opportunity to study events during prophase I of meiosis. Immunofluorescent localization of different meiotic protein components were used to characterize the early stages of the first meiotic division in horse spermatocytes. The frequency and distribution of recombination events during prophase I were investigated using the mutL homolog 1 (MLH1) protein that is known to be associated with these events. The frequency and distribution of MLH1 foci were investigated in pachytene nuclei of 6 fertile stallions, and the average relative synaptone... Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype.
Cytogenetic and genome research
November 5, 2020
Volume 160, Issue 10 597-609 doi: 10.1159/000511236
Mendoza MN, Schalnus SA, Thomson B, Bellone RR, Juras R, Raudsepp T.Complex structural X chromosome abnormalities are rare in humans and animals, and not recurrent. Yet, each case provides a fascinating opportunity to evaluate X chromosome content and functional status in relation to the effect on the phenotype. Here, we report the first equine case of a complex unbalanced X-autosome rearrangement in a healthy but short in stature Thoroughbred mare. Studies of about 200 cells by chromosome banding and FISH revealed an abnormal 2n = 63,X,der(X;16) karyotype with a large dicentric derivative chromosome (der). The der was comprised of normal Xp material, a palind... The epitheliogenesis imperfecta locus maps to equine chromosome 8 in American Saddlebred horses.
Cytogenetic and genome research
February 19, 2004
Volume 102, Issue 1-4 207-210 doi: 10.1159/000075750
Lieto LD, Cothran EG.Epitheliogenesis imperfecta (EI) is a hereditary junctional mechanobullous disease that occurs in newborn American Saddlebred foals. The pathological signs of epitheliogenesis imperfecta closely match a similar disease in humans known as Herlitz junctional epidermolysis bullosa, which is caused by a mutation in one of the genes (LAMA3, LAMB3 and LAMC2) coding for the subunits of the laminin 5 protein (laminin alpha3, laminin beta3 and laminin gamma2). The LAMA3 gene has been assigned to equine chromosome 8 and LAMB3 and LAMC2 have been mapped to equine chromosome 5. Linkage disequilibrium betw... A 1.3-Mb interval map of equine homologs of HSA2.
Cytogenetic and genome research
February 18, 2006
Volume 112, Issue 3-4 227-234 doi: 10.1159/000089875
Wagner ML, Raudsepp T, Goh G, Agarwala R, Schaffer AA, Dranchak PK, Brinkmeyer-Langford C, Skow LC, Chowdhary BP, Mickelson JR.A comparative approach that utilizes information from more densely mapped or sequenced genomes is a proven and efficient means to increase our knowledge of the structure of the horse genome. Human chromosome 2 (HSA2), the second largest human chromosome, comprising 243 Mb, and containing 1246 known genes, corresponds to all or parts of three equine chromosomes. This report describes the assignment of 140 new markers (78 genes and 62 microsatellites) to the equine radiation hybrid (RH) map, and the anchoring of 24 of these markers to horse chromosomes by FISH. The updated equine RH maps for ECA... Molecular characterization of the equine ATP2A2 gene.
Cytogenetic and genome research
April 14, 2007
Volume 116, Issue 4 256-262 doi: 10.1159/000100409
Mömke S, Distl O.The mammalian ATP2A2 gene encodes a P-type cation pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. We isolated one bacterial artificial chromosome (BAC) clone containing the equine ATP2A2 gene and determined the complete coding sequence of this gene. Cloning and characterization of the equine ATP2A2 gene revealed that the equine ATP2A2 gene consists of 20 exons. In total, 32 horses out of 16 breeds were analyzed for single nucleotide polymorphisms (SNPs). A mutation scan for SNPs included ten exons and their flanking introns. We detected in total 17 SNPs, 14 of which w... Assignment of the equine colony stimulating factor 1 receptor gene (CSF1R) to equine chromosome 14q15–>q16 (ECA14q15–>q16) by in situ hybridization and radiation hybrid panel mapping.
Cytogenetic and genome research
May 24, 2005
Volume 109, Issue 4 533 doi: 10.1159/000084221
Beck J, Chowdhary BP, Brenig B.No abstract available Molecular characterization of the equine collagen, type IX, alpha 2 (COL9A2) gene on horse chromosome 2p16–>p15.
Cytogenetic and genome research
October 27, 2006
Volume 115, Issue 2 107-114 doi: 10.1159/000095229
Boneker C, Kuiper H, Drögemüller C, Chowdhary BP, Distl O.The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the complete genomic sequence of this gene. Cloning and characterization of equine COL9A2 revealed that the equine gene consists of 32 exons spanning approximately 15 kb. The COL9A2 transcript encodes a single protein of 688 amino acids. Thirty two single nucleotide polymorphisms (SNPs)... Male horse meiosis: metaphase I chromosome configuration and chiasmata distribution.
Cytogenetic and genome research
August 29, 2014
Volume 143, Issue 4 225-231 doi: 10.1159/000365910
Al-Jaru A, Goodwin W, Skidmore J, Raudsepp T, Khazanehdari K.Chromosome configurations and chiasma frequency during the metaphase I stage of spermatogenesis in the male horse are characterized in this work. The genome-wide frequency and distribution of chiasmata was detected as 49.45 ± 2.07 for 14 fertile stallions. All X and Y chromosomes shared a single chiasma at their pseudoautosomal region, while 1-4 chiasmata were observed in autosomal chromosomes. The chiasma frequency and distribution were further studied for 8 different bivalents identified by FISH in 5 fertile stallions. Genetic length was calculated from chiasmata data for the whole genome a...
