The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report

Umeyama, Kazuhiro; Nakano, K.; Matsunari, Hitomi; Yamada, Takeshi; Hasegawa, Koki; Tang, Kun; Tokuyama, Yuki; Watanabe, Masaru; Nagaya, Masaki; Nagashima, Hiroshi

doi:10.1262/jrd.2018-143

Cited by 3 publications

(4 citation statements)

References 36 publications

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“…It has been estimated that ~1% of human pregnancies start as nonmosaic, but about 99% of these do not survive gestation . Very sporadic cases of nonmosaic X monosomy have been diagnosed in other domestic species, such as cattle, cats and pigs . It is hypothesised that the incidence of X monosomy is related to the size of the pseudoautosomal region (PAR) and to gene content, with haploinsufficiency of PAR longer than 6 Mb likely leading to spontaneous abortion of monosomic embryos .…”

Section: Introductionmentioning

confidence: 99%

“…9 Very sporadic cases of nonmosaic X monosomy have been diagnosed in other domestic species, such as cattle, 10 cats 11 and pigs. 12 It is hypothesised that the incidence of X monosomy is related to the size of the pseudoautosomal region (PAR) and to gene content, with haploinsufficiency of PAR longer than 6 Mb likely leading to spontaneous abortion of monosomic embryos. 3 The size of the equine PAR (1.8 Mb) is comparable with the human PAR (2.7 Mb), but is much shorter than in other domestic mammals (eg 8 Mb in cats, 9.6 Mb in cattle and 9.9 Mb in pigs), which may explain why X monosomy is rather more common in horses and human subjects than in other domestic mammals.…”

Section: Introductionmentioning

confidence: 99%

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Application of droplet digital PCR in diagnosing of X monosomy in mares

Szczerbal

Nowacka‐Woszuk

Kopp-Kuhlman³

et al. 2020

Equine Veterinary Journal

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Background X monosomy is the most common disorder of sex development in horses. Although cytogenetic analysis is still the gold standard in the diagnosis of equine X monosomy, novel molecular techniques are being sought to quickly and reliably detect this chromosome abnormality. Objectives The goal of this study was to evaluate the usefulness of a novel variant of the PCR technique—namely, droplet digital PCR (ddPCR)—in the detection of X monosomy in mares. Study design A proof of concept of the usefulness of ddPCR in diagnosing an abnormal number of X chromosomes in mares. Methods We examined an infertile mare using cytogenetic (fluorescent in situ hybridisation—FISH) and molecular (droplet digital PCR—ddPCR) techniques. The X chromosome copy number in ddPCR was estimated via detection of the AMELX gene copy number. In addition, 70 mares homozygous for X‐linked microsatellite marker (LEX3) were examined by ddPCR. For all mares, a PCR search for the Y‐linked SRY gene was also performed. Results Cytogenetic analysis and ddPCR gave concordant results, indicating pure X monosomy in the studied mare. Of the 70 additional mares examined by ddPCR, a single copy of the X chromosome was found in two cases. All mares were SRY‐negative and thus both freemartinism, manifested by leucocyte XX/XY chimerism, and sex reversal syndrome (XX, SRY‐positive) could be excluded. Main limitations The ddPCR approach does not allow for unequivocal identification of mosaicism (63,X/64,XX or 65,XXX/64,XX), but may give an indication that further cytogenetic analysis is necessary. Conclusion The ddPCR approach appeared to be useful for diagnosing nonmosaic X monosomy in mares. If the number of X chromosome copies in a mare, as determined by ddPCR, differs from two (in our study, <1.8 or >2.2), additional cytogenetic investigation is recommended with the aim of detecting the mosaicism.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Application of droplet digital PCR in diagnosing of X monosomy in mares

Szczerbal

Nowacka‐Woszuk

Kopp-Kuhlman³

et al. 2020

Equine Veterinary Journal

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show abstract

“…Monosomy X has been reported in several animal species, including horses, rhesus monkeys, cows, buffalo, sheep, dogs, cats, alpacas, and pigs [ 17 , 18 ]. No experimental information is available in XO animal models about the behavior of the cell cycle in aneuploid cells.…”

Section: Xo Monosomy In Animalsmentioning

confidence: 99%

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

Álvarez-Nava

Soto-Quintana

2022

JDB

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Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birth weight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death, and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

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“…Monosomy X has been reported in several animal species including horses, rhesus monkeys, cows, buffalo, sheep, dogs, cats, alpacas, and pigs [17,18]. No experimental information is available in X0 animal models about the behavior of the cell cycle in aneuploid cells.…”

Section: Xo Monosomy In Animalsmentioning

confidence: 99%

The Hypothesis of The Prolonged Cell Cycle in Turner Syn-drome

Álvarez-Nava¹,

Soto-Quintana²

2022

Preprint

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Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally ab-normal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birth weight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death, and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life.

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The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report

Cited by 3 publications

References 36 publications

Application of droplet digital PCR in diagnosing of X monosomy in mares

Application of droplet digital PCR in diagnosing of X monosomy in mares

The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome

The Hypothesis of The Prolonged Cell Cycle in Turner Syn-drome

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