Karyotype evaluation among young horse populations in Poland

Bugno, M.; Słota, E.; Koscielny, M.

doi:10.1024/0036-7281.149.5.227

Cited by 45 publications

(56 citation statements)

References 14 publications

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“…A cytogenetic survey of 500 young horses was performed recently by Bugno et al (2007a). This analysis revealed that the incidence of X monosomy in mares reached 3%, but no abnormalities were found in males ( Table 8 ).…”

Section: The Romanian Programmentioning

confidence: 99%

Cytogenetic screening of livestock populations in Europe: an overview

Ducos

Révay

Kovács

et al. 2008

Cytogenet Genome Res

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Clinical animal cytogenetics development began in the 1960’s, almost at the same time as human cytogenetics. However, the development of the two disciplines has been very different during the last four decades. Clinical animal cytogenetics reached its ‘Golden Age’ at the end of the 1980’s. The majority of the laboratories, as well as the main screening programs in farm animal species, presented in this review, were implemented during that period, under the guidance of some historical leaders, the first of whom was Ingemar Gustavsson. Over the past 40 years, hundreds of scientific publications reporting original chromosomal abnormalities generally associated with clinical disorders (mainly fertility impairment) have been published. Since the 1980’s, the number of scientists involved in clinical animal cytogenetics has drastically decreased for different reasons and the activities in that field are now concentrated in only a few laboratories (10 to 15, mainly in Europe), some of which have become highly specialized. Currently between 8,000 and 10,000 chromosomal analyses are carried out each year worldwide, mainly in cattle, pigs, and horses. About half of these analyses are performed in one French laboratory. Accurate estimates of the prevalence of chromosomal abnormalities in some populations are now available. For instance, one phenotypically normal pig in 200 controlled in France carries a structural chromosomal rearrangement. The frequency of the widespread 1;29 Robertsonian translocation in cattle has greatly decreased in most countries, but remains rather high in certain breeds (up to 20–25% in large beef cattle populations, even higher in some local breeds). The continuation, and in some instances the development of the chromosomal screening programs in farm animal populations allowed the implementation of new and original scientific projects, aimed at exploring some basic questions in the fields of chromosome and/or cell biology, thanks to easier access to interesting biological materials (germ cells, gametes, embryos ...).

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Section: The Romanian Programmentioning

confidence: 99%

Cytogenetic screening of livestock populations in Europe: an overview

Ducos

Révay

Kovács

et al. 2008

Cytogenet Genome Res

Self Cite

118

160

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“…The percentage of conceptions and rate of survival for monosomy X embryos in the horse is unknown [Mäkinen et al, 2001]. [Bruère et al, 1978;Miyake et al, 1979;Halnan, 1985;Bowling et al, 1987;Klunder et al, 1990;Nie et al, 1993] Thoroughbred/Anglo-Arabian cross [Chandley et al, 1975] Trakehner [Klunder et al, 1990] Warmblood [Makinen et al, 2001] Welsh Pony [Bouters et al, 1975;Chandley et al, 1975] Wielkopolska [Bugno et al, 2007] Similar to humans with Turner syndrome, affected horses exhibit normal external genitalia but gonadal dysgenesis and an underdeveloped reproductive tract. Nearly all humans with Turner syndrome have short stature due to the loss of 1 copy of the SHOX gene (short stature homeobox) [Zinn and Ross, 2001].…”

Section: Monosomy X Dsd and Its Mosaic Formsmentioning

confidence: 99%

“…[ Bannasch et al, 2007] [ Raudsepp et al, 2010] [ McGee, 2011] [ Bowling et al, 1987] Arabian Andalusian Quarter Horse Appaloosa Arabian [Miyake et al, 1979;Halnan, 1985;Bowling et al, 1987;Paget et al, 2001] [ Buoen et al, 2000;Villagomez et al, 2011] [ Raudsepp et al, 2010;Villagomez et al, 2011] [ Raudsepp et al, 2010] [ Kent et al, 1986;Bowling et al, 1987;Kent et al, 1988] Half-bred Anglo-Arabian Appaloosa Standardbred Mixed Warmblood Morgan [Bugno et al, 2007] [ Buoen et al, 2000] [ Pailhoux et al, 1995;Mäkinen et al, 1999;Makinen et al, 2001;Raudsepp et al, 2010;Villagomez et al, 2011] [ Raudsepp et al, 2010] [ Bowling et al, 1987] Half-Arabian Arabian Thoroughbred Oldenburg Pasa Fino [Gill et al, 1988] [ Buoen et al, 2000;Villagomez et al, 2011] [ Abe et al, 1999;Bugno et al, 2003;Raudsepp et al, 2010;Villagomez et al, 2011] [ Kuiper et al, 2010] [ Kent et al, 1986;Kent et al, 1988] Clydesdale Belgian Quarter Horse Quarter Horse [Klunder et al, 1990] [ Villagomez et al, 2011] [ Raudsepp et al, 2010;Villagomez et al, 2011] [ Kent et al, 1986;Bowling et al, 1987;Kent et al, 1988] Fjord Konik Polski Sta...…”

mentioning

confidence: 99%

Disorders of Sexual Development in the Domestic Horse, <i>Equus caballus</i>

Lear

McGee²

2011

Sex Dev

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Abnormalities of sexual development causing infertility in horses have been investigated since the early 1970's. Conventional cytogenetic analysis by karyotyping has been the primary tool used to investigate these horses. Abnormalities have a broad range, from a phenotypically normal mare with gonadal dysgenesis to a horse with ambiguous external genitalia and internal male and female organs. Cytogenetic analysis can determine genetic sex but cannot identify mutations or deletions of genes involved in the sex determination pathway. Molecular technologies have been developed to confirm cytogenetic results and to aid in identifying the genetic causes of abnormal sex determination in horses. In this paper, we review the historical development of methods used to understand abnormal sexual development in the horse as well as summarize cases reported over the last 40-50 years.

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“…In horses, the most frequent abnormalities involved sex chromosome aneuploidies, i.e. sex-reversal syndrome (XY in mares) and XX/XY chimerism (Bowling et al, 1987;Power, 1990;Bugno et al, 2007a;Lear and Bailey, 2008). In contrast, autosomal chromosome abnormalities have rarely been described (reviewed by Lear and Bailey, 2008).…”

Section: Abstract: Horse Painting Probes Fish Technique Chromosommentioning

confidence: 99%

“…When the fusion occurs after the gonads are differentiated towards the ovary, they are not masculinised as in the case of freemartin heifers from twin different-sex pregnancies (Dunn et al, 1981;Bugno et al, 1999;Jaszczak and Parada, 1999). The frequency of structural chromosome aberrations described in the horse is low, and these include autosomal translocations (Payne et al, 1968;Queinnec et al, 1975;Kent et al, 1986;Power, 1987;Herzog et al, 1988;Power, 1991;Long, 1996;Lear and Layton, 2002;, autosomal deletions (Halnan et al, 1982;McFeely et al, 1989), autosomal trisomy (Power, 1987;Klunder et al, 1989;Bowling and Millon, 1990;Buoen et al, 1997;Lear et al, Acta Veterinaria Hungarica 57, 2009 1999; Kubień and Tischner, 2002;Bugno et al, 2007a) and isochromosomes (Buoen et al, 1983;Mäkelä et al, 1994). Karyotype defects of structural type are a major breeding problem because they may significantly reduce fertility by 5% to 100%.…”

Section: Acta Veterinaria Hungarica 57 2009mentioning

confidence: 99%

Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection

Bugno

Słota

Pieńkowska-Schelling

et al. 2009

Acta Veterinaria Hungarica

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Fluorescent in situ hybridisation (FISH) using a panel of molecular probes for all chromosome pairs obtained by chromosome microdissection of the domestic horse (Equus caballus) was used to diagnose karyotype abnormalities in 35 horses (32 mares, 2 stallions and 1 intersex), which were selected for the study due to infertility (23 horses), reduced fertility (10 horses) and developmental anomalies (2 horses). The use of the FISH technique with probes for each horse chromosome pair enabled the diagnosis of many different chromosome aberrations in this population. Among the horses analysed, 21 animals had normal karyotype -64,XX (19 mares) and 64,XY (2 stallions). Fourteen animals, constituting 40% of the population studied, showed the following chromosome abnormalities: 63,X (1 mare); 63,X/64,XX (6 mares); 63,X/64,XX/65,XXX (3 mares); 63,X/65,XXX (1 mare); 64,XX/65,XX+Xp (1 mare); 63,X/64,XX/65,XX+Xq (1 mare), and 63,X/64,XX/65,XX+delY (1 intersex). When only the mares studied because of complete infertility were taken into consideration, this proportion exceeded 56%. Due to the increased frequency of the above-mentioned aberrations in the mosaic form of two or more lines, it was necessary to analyse a large number (100-300) of metaphase spreads. The use of specific molecular probes obtained by chromosome microdissection made these diagnoses much easier.

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Karyotype evaluation among young horse populations in Poland

Cited by 45 publications

References 14 publications

Cytogenetic screening of livestock populations in Europe: an overview

Cytogenetic screening of livestock populations in Europe: an overview

Disorders of Sexual Development in the Domestic Horse, <i>Equus caballus</i>

Identification of chromosome abnormalities in the horse using a panel of chromosome-specific painting probes generated by microdissection

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