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Topic:Karyotype

A karyotype in horses refers to the complete set of chromosomes present in the cells of a horse, typically organized in a systematic arrangement for analysis. Horses generally have 64 chromosomes, comprising 31 pairs of autosomes and one pair of sex chromosomes. Karyotyping is employed to study chromosomal abnormalities that may affect equine development, fertility, and overall health. It provides insights into genetic disorders, hereditary conditions, and breed-specific traits. This page compiles peer-reviewed research studies and scholarly articles that explore the methodology, findings, and implications of karyotype analysis in equine genetics.
Application of arm-specific painting probes of horse X chromosome for karyotype analysis in an infertile Hutsul mare with 64,XX/65,XX+Xp karyotype: case report.
Acta veterinaria Hungarica    September 18, 2007   Volume 55, Issue 3 309-314 doi: 10.1556/AVet.55.2007.3.5
Bugno M, Słota E.A 5-year-old infertile Hutsul mare was subjected to cytogenetic analysis. Fluorescence in situ hybridisation (FISH) using the equine Xp and Xq chromosome painting probes was carried out on chromosome preparations obtained after blood lymphocyte culture. These probes were generated by chromosome microdissection and a large number of spreads was analysed (525). The karyotype formula of the analysed mare was 64,XX/65,XX+Xp with the ratio of the two lines being 99.4 and 0.6, respectively. The goal of the study was to apply chromosome microdissection and the FISH technique for cytogenetic diagnosti...
Karyotypic relationships among Equus grevyi, Equus burchelli and domestic horse defined using horse chromosome arm-specific probes.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    August 23, 2007   Volume 15, Issue 6 807-813 doi: 10.1007/s10577-007-1164-8
Musilova P, Kubickova S, Zrnova E, Horin P, Vahala J, Rubes J.Using laser microdissection we prepared a set of horse chromosome arm-specific probes. Most of the probes were generated from horse chromosomes, some of them were derived from Equus zebra hartmannae. The set of probes were hybridized onto E. grevyi chromosomes in order to establish a genome-wide chromosomal correspondence between this zebra and horse. The use of arm-specific probes provided us with more information on the mutual arrangement of the genomes than we could obtain by means of whole-chromosome paints generated by flow sorting, even if we used reciprocal painting with probe sets from...
Karyotype evaluation among young horse populations in Poland.
Schweizer Archiv fur Tierheilkunde    June 15, 2007   Volume 149, Issue 5 227-232 doi: 10.1024/0036-7281.149.5.227
Bugno M, Słota E, Kościelny M.Five hundred young horses of the following breeds: Thoroughbred, Silesian, Malopolska, Wielkopolska, Polish Konik, Hutsul, Shetland Pony, Half-bred Anglo-Arabian, Noble Half-bred, Fjord and crosses were cytogenetically investigated. Chromosome preparations obtained after lymphocyte culture were analysed using conventional Giemsa staining and CBG-banding methods. In the case of abnormalities GTG-banding as well as FISH technique were applied. In ten mares different karyotypic abnormalities were diagnosed. One mare showed chromosome chimerism (64,XX/64,XY), eight had sex chromosomal aneuploidy (...
Detection of equine X chromosome mosaicism in a mare using an equine X whole chromosome painting probe (WCPP)–a case report.
Acta veterinaria Hungarica    June 9, 2007   Volume 55, Issue 2 207-212 doi: 10.1556/AVet.55.2007.2.6
Bugno M, Słota E, Pieńkowska-Schelling A, Schelling C.An infertile mare with hypoplastic ovaries was subjected to cytogenetic analysis. Fluorescence in situ hybridisation (FISH) using the equine X whole chromosome painting probe (WCPP) was carried out on a chromosome preparation obtained from blood lymphocyte culture. The number of analysed spreads was high (235) and in the X chromosome aneuploidy in mosaic form was diagnosed. The karyotype formula was 63,X / 64,XX / 65,XXX. The ratio of the three lines was 15%, 82% and 3%, respectively. The application of the FISH technique with WCPP is discussed.
Fluorescent in situ hybridization mapping of the epidermal growth factor receptor gene in donkey.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    June 7, 2007   Volume 124, Issue 3 172-174 doi: 10.1111/j.1439-0388.2007.00652.x
Bugno M, Klukowka-Rötzler J, Słota E, Witarski W, Gerber V, Leeb T.The physical localization of the epidermal growth factor receptor (EGFR) gene was performed on donkey chromosomes. Bacterial artificial chromosome DNA containing the equine EGFR gene was used to map this gene by fluorescent in situ hybridization on donkey metaphase chromosomes. The gene was mapped on donkey 1q21.1 region.
[Intersexuality in horses].
DTW. Deutsche tierarztliche Wochenschrift    March 8, 2007   Volume 114, Issue 2 50-56 
Kuiper H, Distl O.Intersexuality is a rare congenital anomaly of horses. Diagnosis of intersexuality is difficult because there are usually no specific changes in the reproductive tract visible. During a period of five years, ten patients with reduced fertility or suspected intersexuality respectively were investigated using cytogenetic, molecular genetic, histopathological and endocrinological methods. In one case a 64,XX/63,X0 mosaicism was found. In six cases male pseudohermaphroditism was verified. These patients showed a male karyotype, testes and rudimentary parts of a female reproductive tract were prese...
A case of blind vagina in a crossbred Lusitano mare.
Animal reproduction science    February 1, 2007   Volume 101, Issue 3-4 338-343 doi: 10.1016/j.anireprosci.2007.01.016
Payan-Carreira R, Quaresma M, Oliveira-Martins T, Silva JR.This report describes a case of blind vagina diagnosed during a pre-breeding evaluation of a 5-year-old crossbred Lusitano mare. This mare was mated twice during the previous breeding season but remained open. Clinical evaluation revealed the existence of follicles in the ovaries and an enlarged uterus. An ultrasound examination showed that a granular free-floating fluid distended the uterus. No connection was detected between the uterus and the vagina and a presumptive diagnosis of congenital vaginal obstruction was raised. On vaginal examination it was noticed that the vagina was short in de...
Chromosomal assignment of five equine HTR genes by FISH and RH mapping.
Animal genetics    January 30, 2007   Volume 38, Issue 1 83-84 doi: 10.1111/j.1365-2052.2006.01546.x
Prause A, Guionaud CT, Klukowska-Rötzler J, Giulotto E, Magnani E, Chowdhary BP, Philipp U, Leeb T, Mevissen M.No abstract available
Chromosomal assignments and sequences for the equine core circadian clock genes.
Animal genetics    January 30, 2007   Volume 38, Issue 1 84-85 doi: 10.1111/j.1365-2052.2006.01549.x
Murphy BA, Lear TL, Adelson DL, Fitzgerald BP.No abstract available
Molecular and cytogenetic paternity testing of a male offspring of a hinny.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    December 21, 2006   Volume 123, Issue 6 403-405 doi: 10.1111/j.1439-0388.2006.00615.x
Zhao CJ, Qin YH, Lee XH, Wu Ch.An alleged male foal of a female mule, whose sire and grandparents were unknown, was identified for its pedigree. Parentage testing was conducted by comparing polymorphism of 12 microsatellite DNA sites and mitochondrial D-loop sequences of the male foal and the female mule. Both the sequence analysis of species-specific DNA fragments and a cytogenetic analysis were performed to identify the species of the foal and its parents. The results showed that the alleged female mule is actually a hinny, and the male foal, which possesses 62 chromosomes, qualifies as an offspring of the female hinny an...
Derivation and induction of the differentiation of animal ES cells as well as human pluripotent stem cells derived from fetal membrane.
Human cell    October 7, 2006   Volume 18, Issue 3 135-141 doi: 10.1111/j.1749-0774.2005.tb00003.x
Saito S, Yokoyama K, Tamagawa T, Ishiwata I.We succeeded in the derivation and maintenance of pluripotent embryonic stem (ES) cells from equine and bovine blastocysts. These cells expressed markers that are characteristics of mouse ES cells, namely, alkaline phosphatase, stage-specific embryonic antigen 1, STAT 3 and Oct 4. We confirmed the pluripotential ability of these cells, which were able to undergo somatic differentiation in vitro to neural progenitors and to endothelial or hematopoietic lineages. We were able to use bovine ES cells as a source of nuclei for nuclear transfer and we generated cloned cattle with a higher frequency ...
Derivation, maintenance, and induction of the differentiation in vitro of equine embryonic stem cells.
Methods in molecular biology (Clifton, N.J.)    July 19, 2006   Volume 329 59-79 doi: 10.1385/1-59745-037-5:59
Saito S, Sawai K, Minamihashi A, Ugai H, Murata T, Yokoyama KK.We describe here the isolation and maintenance of pluripotent embryonic stem (ES) cells from equine blastocysts that have been frozen and thawed. Equine ES cells appear to maintain a normal diploid karyotype in culture. These cells express markers that are characteristic of mouse ES cells, namely, alkaline phosphatase, stage-specific-embryonic antigen 1, STAT3, and Oct4. We also describe protocols for the induction of differentiation in vitro to neural precursor cells in the presence of basic fibroblast growth factor (bFGF), epidermal growth factor, and platelet-derived growth factor and to he...
Long-term outcome in acquired aplastic anemia treated with an intensified dose schedule of horse antilymphocyte globulin in combination with androgens.
Annals of hematology    July 8, 2006   Volume 85, Issue 10 711-716 doi: 10.1007/s00277-006-0152-y
Leleu X, Terriou L, Duhamel A, Moreau AS, Andrieux J, Dupire S, Coiteux V, Berthon C, Micol JB, Guieze R, Facon T, Bauters F.Aplastic anemia (AA) is a rare hematopoietic stem cell disease, which can be treated with horse antilymphocyte globulin (ALG) for patients not eligible for bone marrow transplantation. ALG gives about 60% overall survival rate (OS) after 5 years, a 30% of persistent complete remission and a 20% early death rate related to failure. ALG has been incriminated in the emergence of 10 to 20% therapy-related AML/MDS (t-AML/MDS) with the usual doses. Questions remain whether higher doses of ALG could improve the response and OS rates and whether the combination with androgens is able to protect patien...
Clinical, cytogenetic and hormonal findings in a stallion with hypospadias–a case report.
Veterinary journal (London, England : 1997)    July 3, 2006   Volume 173, Issue 3 679-682 doi: 10.1016/j.tvjl.2006.03.005
Bleul U, Theiss F, Rütten M, Kähn W.This case report describes a three-year-old Friesian stallion with hypospadias. Physical examination revealed a ventrocaudal deviation of the shaft of the penis and an incomplete glans penis. The urethral opening was 4 cm in length, slit-like and had a mucous membrane covering. A short fold ran from the ventral aspect of the anus and ended with a non-pigmented hairless area of skin. A human choriongonadotropin (hCG)-stimulation test resulted in an increase in the plasma levels of estrogen sulfate and testosterone, indistinguishable from that of a normal stallion. The karyogram had a normal num...
Chromosomal assignments for the equine AMPK family genes.
Animal genetics    June 1, 2006   Volume 37, Issue 3 293-294 doi: 10.1111/j.1365-2052.2006.01431.x
Dranchak PK, Ekenstedt KJ, Valberg SJ, Chowdhary BP, Raudsepp T, Mickelson JR.No abstract available
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
Evolutionary movement of centromeres in horse, donkey, and zebra.
Genomics    January 18, 2006   Volume 87, Issue 6 777-782 doi: 10.1016/j.ygeno.2005.11.012
Carbone L, Nergadze SG, Magnani E, Misceo D, Francesca Cardone M, Roberto R, Bertoni L, Attolini C, Francesca Piras M, de Jong P, Raudsepp T....Centromere repositioning (CR) is a recently discovered biological phenomenon consisting of the emergence of a new centromere along a chromosome and the inactivation of the old one. After a CR, the primary constriction and the centromeric function are localized in a new position while the order of physical markers on the chromosome remains unchanged. These events profoundly affect chromosomal architecture. Since horses, asses, and zebras, whose evolutionary divergence is relatively recent, show remarkable morphological similarity and capacity to interbreed despite their chromosomes differing co...
SRY negative 64,XX intersex phenotype in an American saddlebred horse.
Veterinary journal (London, England : 1997)    December 28, 2005   Volume 173, Issue 2 437-439 doi: 10.1016/j.tvjl.2005.11.008
Bannasch D, Rinaldo C, Millon L, Latson K, Spangler T, Hubberty S, Galuppo L, Lowenstine L.A female American saddlebred horse was presented for surgical correction of a possible pseudohermaphrodite condition. The horse had abnormal external genitalia and exhibited stallion-like behaviour. No evidence of uterine or ovarian tissue was identified on laparoscopic examination, but hypoplastic testicular-like tissue was removed, although this was found to contain no spermatogonia upon histopathological examination. A karyotype was performed and showed the normal chromosomal complement for a female horse (64,XX). Polymerase chain reaction to detect the SRY gene was negative in peripheral b...
Assignment of BGLAP, BMP2, CHST4, SLC1A3, SLC4A1, SLC9A5 and SLC20A1 to equine chromosomes by FISH and confirmation by RH mapping.
Animal genetics    September 20, 2005   Volume 36, Issue 5 457-461 doi: 10.1111/j.1365-2052.2005.01347.x
Müller D, Kuiper H, Böneker C, Mömke S, Drögemüller C, Chowdhary BP, Distl O.No abstract available
Sex reversal syndrome (64,XY; SRY-positive) in a mare demonstrating masculine behaviour.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    September 1, 2005   Volume 122 Suppl 1 60-63 doi: 10.1111/j.1439-0388.2005.00510.x
Switonski M, Chmurzynska A, Szczerbal I, Lipczynski A, Yang F, Nowicka-Posłuszna A.A 5-year-old Thoroughbred mare was subjected to cytogenetic and molecular analysis because of infertility and masculine behaviour. Chromosome studies, including painting with the whole X chromosome specific probe, revealed a male chromosome complement (64,XY). The PCR amplification of the SRY and ZFY genes showed the presence of both those genes, while the endocrinological study demonstrated a high level of testosterone (9.7 nmol/l). Sequencing of the SRY gene (1121 bp), comprising also 5'- and 3'-UTRs, did not reveal any differences when compared with the sequence of normal stallions. It was ...
Comparative chromosomal studies of E. caballus (ECA) and E. przewalskii (EPR) in a female F1 hybrid.
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie    September 1, 2005   Volume 122 Suppl 1 97-102 doi: 10.1111/j.1439-0388.2005.00494.x
Ahrens E, Stranzinger G.Previous research revealed that the karyotypes of Equus przewalskii (2n = 66) and Equus caballus (2n = 64) differ by one pair of metacentric chromosomes, present in ECA but not in EPR, and two pairs of acrocentric chromosomes found only in the EPR karyotype. The formation of a trivalent during meiosis in a male F1 hybrid and the homologies in G-banding patterns suggest that ECA 5 corresponds to two acrocentric EPR chromosomes resulting from a Robertsonian fusion or fission event. Chromosomal investigations of a female interspecies F1 hybrid including banded karyograms and fluorescence in situ ...
Equine FISH mapping of 36 genes known to locate on human chromosome ends.
Cytogenetic and genome research    August 12, 2005   Volume 111, Issue 1 46-50 doi: 10.1159/000085669
Perrocheau M, Boutreux V, Chadi-Taourit S, Di Meo GP, Perucatti A, Incarnato D, Cribiu EP, Guérin G, Iannuzzi L.The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each BAC by sequencing. Our results show that 16 BACs can be considered to be at telomeric or centromeric positions in the horse and 15 were found at the boundary of actually defined conserved segments even-though often located within conserved syntenic fragments between horse and human...
Numerical chromosomal abnormalities in equine embryos produced in vivo and in vitro.
Molecular reproduction and development    June 11, 2005   Volume 72, Issue 1 77-87 doi: 10.1002/mrd.20302
Rambags BP, Krijtenburg PJ, Drie HF, Lazzari G, Galli C, Pearson PL, Colenbrander B, Stout TA.Chromosomal aberrations are often listed as a significant cause of early embryonic death in the mare, despite the absence of any concrete evidence for their involvement. The current study aimed to validate fluorescent in situ hybridization (FISH) probes to label specific equine chromosomes (ECA2 and ECA4) in interphase nuclei and thereby determine whether numerical chromosome abnormalities occur in horse embryos produced either in vivo (n = 22) or in vitro (IVP: n = 20). Overall, 75% of 36,720 and 88% of 2,978 nuclei in the in vivo developed and IVP embryos were analyzable. Using a scoring sys...
Assignment of the COL16A1 gene to equine chromosome 2p15.1-p15.3 by FISH and confirmation by RH mapping.
Animal genetics    June 4, 2005   Volume 36, Issue 3 262-263 doi: 10.1111/j.1365-2052.2005.01273.x
Böneker C, Kuiper H, Wöhlke A, Drögemüller C, Chowdhary BP, Distl O.No abstract available
Assignment of the COMP gene to equine chromosome 21q12-q14 by FISH and confirmation by RH mapping.
Animal genetics    June 4, 2005   Volume 36, Issue 3 277-279 doi: 10.1111/j.1365-2052.2005.01294.x
Müller D, Kuiper H, Mömke S, Böneker C, Drögemüller C, Chowdhary BP, Distl O.No abstract available
Isolation, characterization and chromosome assignment of 341 newly isolated equine TKY microsatellite markers.
Animal genetics    November 30, 2004   Volume 35, Issue 6 487-496 doi: 10.1111/j.1365-2052.2004.01208.x
Tozaki T, Penedo MC, Oliveira RP, Katz JP, Millon LV, Ward T, Pettigrew DC, Brault LS, Tomita M, Kurosawa M, Hasegawa T, Hirota K.No abstract available
Androgen insensitivity syndrome in a thoroughbred mare (64, XY–testicular feminization).
The Canadian veterinary journal = La revue veterinaire canadienne    July 31, 2004   Volume 45, Issue 6 501-503 
Howden KJ.A Thoroughbred mare was presented for stallion-like behavior. Reproductive and ultrasonographic evaluation, testosterone assays, and karyotyping confirmed a diagnosis of androgen insensitivity syndrome (64, XY--testicular feminization). Surgery to remove abdominal testicles was successful in alleviating the behavioral abnormality. This condition is discussed with reference to the current literature. Une jument Thoroughbred a été présentée parce qu’elle avait un comportement d’étalon. Une évaluation reproductrice et échographique, des dosages de testostérone et un caryotypage ont c...
Refined genome-wide comparative map of the domestic horse, donkey and human based on cross-species chromosome painting: insight into the occasional fertility of mules.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology    February 27, 2004   Volume 12, Issue 1 65-76 doi: 10.1023/b:chro.0000009298.02689.8a
Yang F, Fu B, O'Brien PC, Nie W, Ryder OA, Ferguson-Smith MA.We have made a complete set of painting probes for the domestic horse by degenerate oligonucleotide-primed PCR amplification of flow-sorted horse chromosomes. The horse probes, together with a full set of those available for human, were hybridized onto metaphase chromosomes of human, horse and mule. Based on the hybridization results, we have generated genome-wide comparative chromosome maps involving the domestic horse, donkey and human. These maps define the overall distribution and boundaries of evolutionarily conserved chromosomal segments in the three genomes. Our results shed further lig...
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...
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 ...