Infertile mares with XO and XY sex chromosome deviations

Mäkinen, Antti; Hasegawa, Telhisa; Syrjä, Pernilla; Katila, Terttu

doi:10.1111/j.2042-3292.2006.tb00415.x

Cited by 3 publications

(2 citation statements)

References 10 publications

(17 reference statements)

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“…No systematic and large scale control program exists in Finland, but animals with reproductive problems have been occasionally studied, allowing the discovery of original chromosomal rearrangements in cattle, pigs and horses (e.g. Villagomez et al, 1993;Mäkinen et al, 1999bMäkinen et al, , 2000Mäkinen et al, , 2006 ( Table 11 ).…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic screening of livestock populations in Europe: an overview

Ducos

Révay

Kovács

et al. 2008

Cytogenet Genome Res

117

160

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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: Discussionmentioning

confidence: 99%

Cytogenetic screening of livestock populations in Europe: an overview

Ducos

Révay

Kovács

et al. 2008

Cytogenet Genome Res

117

160

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“…They usually have properly developed external genitalia but have often underdeveloped small hypoplastic ovaries with no palpable follicles, and a small and flaccid uterus. Mares with X-monosomy show decreased steroidogenic activity of the ovaries and have overall higher levels of the luteinizing hormone, and lower levels of estrogen, progesterone, testosterone and cortisol [ 45 , 68 , 69 ]. The consequence of these changes are disturbances in the development and functioning of the reproductive system, leading to the absence of the estrus cycle and sterility.…”

Section: Chromosome Aberrationsmentioning

confidence: 99%

Horse Clinical Cytogenetics: Recurrent Themes and Novel Findings

Bugno‐Poniewierska

Raudsepp

2021

Animals

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Clinical cytogenetic studies in horses have been ongoing for over half a century and clearly demonstrate that chromosomal disorders are among the most common non-infectious causes of decreased fertility, infertility, and congenital defects. Large-scale cytogenetic surveys show that almost 30% of horses with reproductive or developmental problems have chromosome aberrations, whereas abnormal karyotypes are found in only 2–5% of the general population. Among the many chromosome abnormalities reported in the horse, most are unique or rare. However, all surveys agree that there are two recurrent conditions: X-monosomy and SRY-negative XY male-to-female sex reversal, making up approximately 35% and 11% of all chromosome abnormalities, respectively. The two are signature conditions for the horse and rare or absent in other domestic species. The progress in equine genomics and the development of molecular tools, have qualitatively improved clinical cytogenetics today, allowing for refined characterization of aberrations and understanding the underlying molecular mechanisms. While cutting-edge genomics tools promise further improvements in chromosome analysis, they will not entirely replace traditional cytogenetics, which still is the most straightforward, cost-effective, and fastest approach for the initial evaluation of potential breeding animals and horses with reproductive or developmental disorders.

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