SRY‐negative, XX intersex horses: the need for pedigree studies to examine the mode of inheritance of the condition

Buoen, L. C.; Zhang, T. Q.; Weber, Alvin F; Ruth, G. R.

doi:10.2746/042516400777612071

Cited by 45 publications

(45 citation statements)

References 14 publications

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“…Histological examination of the testes revealed poorly developed seminiferous tubules and no spermatogonia. The cause of this syndrome in horses is unknown, but an autosomal gene mutation is suspected to be inherited as a recessive trait (Buoen et al, 2000). An XX sex-reversal case with deletion of a large portion of the Y euchromatic region has been described recently (Bugno et al, 2008, this issue).…”

Section: Sex-reversal Syndromesmentioning

confidence: 99%

Equine clinical cytogenetics: the past and future

Lear

Bailey

2008

Cytogenet Genome Res

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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 genomics tools may enhance clinical cytogenetic studies in the horse.

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Section: Sex-reversal Syndromesmentioning

confidence: 99%

Equine clinical cytogenetics: the past and future

Lear

Bailey

2008

Cytogenet Genome Res

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“…In parallel with this classic scheme, exceptions exist where XX individuals develop testes in the absence of SRY while, inversely XY individuals without testes but with an intact SRY gene have been described. Such individuals have been observed in numerous mammalian species, including humans, and are called sex-reversed or intersexes (isx) (Gerneke, 1967;Whitworth et al, 1996;Pailhoux et al, 1994a;Meyers-Wallen et al, 1999;Buoen et al, 2000;Sarafoglou and Ostrer, 2000). In most cases, they are carriers of genetic anomalies in one or several autosomal or X-linked genes.…”

Section: Introductionmentioning

confidence: 99%

Time course of female‐to‐male sex reversal in 38,XX fetal and postnatal pigs

Pailhoux

Parma

Sundström

et al. 2001

Developmental Dynamics

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In an attempt to understand the etiology of intersexuality in pigs, we thoroughly analyzed the gonads of 38,XX (SRY negative) female to male sex-reversed animals at different developmental stages: during fetal life [50 and 70 days postcoitum (dpc)], just after birth [35 days postpartum (dpp)] and during adulthood. For each animal studied, we performed parallel histological and ultrastructural analyses on one gonad and RT-PCR analysis on the other gonad in order to define the expression profiles of sexually regulated genes: SOX9, 3␤-HSD, P450 aromatase, AMH, FOXL2, and Wnt4. Light and electron microscopic examination showed that testicular cords differentiated in XX sex-reversed gonads but were hypoplastic. Although the testicular cords contained gonia at the fetal stages, the germ cells had all died through apoptosis within a few weeks after birth. Ultrastructurally normal Leydig cells also differentiated, but later, and enclosed whorl-like residual bodies. At the fetal stages, three of the six genes studied in the intersex gonads presented, as early as 50 dpc, a modified expression profile corresponding to an elevated expression of SOX9 and the beginning of AMH and P450 aromatase gene transcription. In addition to genes involved in the testicular pathway, the same gonads expressed FOXL2, an ovarian-specific factor. The ovaries of true hermaphrodites were ineffective in ensuring correct folliculogenesis and presented abnormal expression profiles of ovarian specific genes after birth. These results indicate that the genes involved in this pathology act very early during gonadogenesis and affect the ovary-differentiating pathway with variable expressivity from ovarian germ cell depletion through to trans-differentiation into testicular structures.

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“…One can predict that mutations of these ovarian-specific factors will lead to gonadal dysgenesis or to testis differentiation. Intriguingly XX female-to-male sex reversal is described in numerous mammalian species including dogs, horses, pigs, goats and humans (de la Chapelle, 1981;Pailhoux et al, 1994aPailhoux et al, , 1994bMeyers-Wallen et al, 1999;Buoen et al, 2000;Vaiman and Pailhoux, 2000), but no responsible gene has so far been isolated for such diseases. According to the "double-inhibition" model proposed by McElreavey, such a gene (named Z in the model) responsible for XX maleness can also be assumed to be a direct target of SRY in XY individuals .…”

mentioning

confidence: 99%

Expression studies of the PIS-regulated genes suggest different mechanisms of sex determination within mammals

Pannetier

Servel

Cocquet

et al. 2003

Cytogenet Genome Res

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In mammals, the Y-located SRY gene is known to induce testis formation from the indifferent gonad. A related gene, SOX9, also plays a critical role in testis differentiation in mammals, in birds and reptiles. It is now assumed that SRY acts upstream of SOX9 in the sex determination cascade, but the regulatory link which should exist between these two genes remains unknown. Studies on XX sex reversal in polled goats (PIS mutation: Polled Intersex Syndrome) have led to the discovery of a female-specific locus crucial for ovarian differentiation. This genomic region is composed of at least two genes, FOXL2 and PISRT1, which share a common transcriptional regulatory region, PIS. In this review, we present the expression pattern of these PIS-regulated genes in mice. The FOXL2 expression profile of mice is similar to that described in goats in accordance with a conserved role of this ovarian differentiating gene in mammals. On the contrary, the PISRT1 expression profile is different between mice and goats, suggesting different mechanisms of the primary switch in the testis determination process within mammals. A model based on two different modes of SOX9 regulation in mice and other mammals is proposed in order to integrate our results into the current scheme of gonad differentiation.

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SRY‐negative, XX intersex horses: the need for pedigree studies to examine the mode of inheritance of the condition

Cited by 45 publications

References 14 publications

Equine clinical cytogenetics: the past and future

Equine clinical cytogenetics: the past and future

Time course of female‐to‐male sex reversal in 38,XX fetal and postnatal pigs

Expression studies of the PIS-regulated genes suggest different mechanisms of sex determination within mammals

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