On the Inheritance of Intersexuality in Swine

Sittmann, K.; Breeuwsma, A.J.; Brake, JF

doi:10.1139/g80-058

Cited by 25 publications

(10 citation statements)

References 31 publications

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“…Several studies have presented evidence that pig intersexuality may be inherited [see for instance Sittmann et al, 1980;Pailhoux et al, 1997]. Various genetic causes have been proposed to be responsible for sex disorders in pigs.…”

Section: Chromosomal Complementsmentioning

confidence: 99%

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

Villagómez

Parma

Radi

et al. 2009

Cytogenet Genome Res

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The association of abnormal chromosome constitutions and disorders of sex development in domestic animals has been recorded since the beginnings of conventional cytogenetic analysis. Deviated karyotypes consisting of abnormal sex chromosome sets (e.g. aneuploidy) and/or the coexistence of cells with different sex chromosome constitutions (e.g. mosaicism or chimerism) in an individual seem to be the main causes of anomalies of sex determination and sex differentiation. Molecular cytogenetics and genetics have increased our understanding of these pathologies, where human and mouse models have provided a substantial amount of knowledge, leading to the discovery of a number of genes implicated in mammalian sex determination and differentiation. Additionally, other genes, which appeared to be involved in ovary differentiation, have been found by investigations in domestic species such as the goat. In this paper, we present an overview of the biology of mammalian sex development as a scientific background for better understanding the body of knowledge of the clinical cytogenetics of disorders of sex development in domestic animals. An attempt to summarize of what has been described in that particular subject of veterinary medicine for each of the main mammalian domestic species is presented here.

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Section: Chromosomal Complementsmentioning

confidence: 99%

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

Villagómez

Parma

Radi

et al. 2009

Cytogenet Genome Res

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“…The proposal that recessive mutations can be responsible for XX sex reversal in humans has been suggested (29)(30)(31). XX sex reversal has also been described in domestic animals such as pig, goat, and dog, where in some cases, it has been attributed to a monofactorial recessive mode of inheritance (32)(33)(34)(35)(36).…”

mentioning

confidence: 99%

“…Second, a candidate Z gene might be mapped using the pig intersexuality mutation as an animal model for human XX sex reversal. Genetic analysis of intersexuality in the pig is compatible with an autosomal recessive mutation (34). Since the pig map is becoming well defined (42), this mutation can be mapped using Mendelian genetics and its equivalent can be located in humans or in mice using a comparative mapping approach.…”

mentioning

confidence: 99%

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

McElreavey

Vilain

Abbas

et al. 1993

Proc. Natl. Acad. Sci. U.S.A.

338

160

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The mammalian Y chromosome carries the SRY gene, which determines testis formation. Here we review data on individuals who are XX but exhibit male characteristics: some have SRY; others do not. We have analyzed three families containing more than one such individual and show that these individuals lack SRY. Pedigree analysis leads to the hypothesis that they carry recessive mutations (in a gene termed Z) that allow expression of male characteristics. We propose that wild-type Z product is a negative regulator ofmale sex determination and is functional in wild-type females. In males, SRY product represses or otherwise negatively regulates Z and thereby allows male sex determination. This hypothesis can also explain other types of sex reversal in mammals, in particular, XY females containing SRY. Some of these individuals may have mutations at the Z locus rendering them insensitive to SRY. Recessive mutations (such as the polled mutation ofgoats) leading to sex reversal are known in a variety of animals and might be used to map and ultimately clone the human Z gene.In mammals, male sex determination is controlled by the presence ofthe Y chromosome, which carries a gene encoding the testis-determining factor (TDF) on its short arm (1, 2). The current hypothesis for TDF action is that its product induces the testis-determination pathway, resulting ultimately in a male phenotype (1,(3)(4)(5)(6). Recently, the testis-determining factor gene has been isolated and named SR Y for sexdetermining region, Y chromosome (7). Genetic evidence to equate SRY and TDF comes from the study of XY sexreversed females who harbor de novo mutations in the SR Y open reading frame (ORF). The association of a de novo mutation in the SR Y ORF with a sex-reversed phenotype is consistent with SR Ybeing TDF (8-12). Further support for the role of SRY as the primary testis-determining factor comes from the observation that XX mice carrying the murine equivalent of SRY as a transgene develop as males (13).Mutations that cause sex reversal have proved to be important for identifying genes involved in sex determination in Drosophila, nematodes, and mice (5, 14 XX males with genital ambiguities: Sporadic andfamilial cases. Thirty-eight sporadic cases of XX males were analyzed for the presence of Y material (21). They were detected at birth because of external genital ambiguities, such as hypospadias (failure of urethra to close on the underside of the penis), micropenis, or hyperclitoridy. In all 38 cases, gonadal biopsy revealed the presence of bilateral testis. We also analyzed a familial case (family A) in which two children were XX males with ambiguities such as posterior hypospadias. As shown in Fig. 1, they have two normal brothers and five normal sisters. Both parents are normal; they are related by a first-cousin marriage.46,XX true hermaphrodites: Sporadic and familial cases. Thirty-four sporadic cases have been analyzed; the majority have been previously published (21,22). They all carried internal or external genital ambiguities ...

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“…Among breeding species, intersexuality is well described in pigs (Sittman et al, 1980). In this report we describe the localization in pig of the candidate genes cited previously.…”

Section: Sf1mentioning

confidence: 77%

Mapping in pig of genes involved in sexual differentiation: AMH, WT1 FTZF1, SOX2, SOX9, AHC, and placental and embryonic CYP19

Lahbib-Mansais

Barbosa

Yerle

et al. 1997

Cytogenet Genome Res

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Intersexuality has been reported in pigs and investigations are in progress to identify and physically map the genes involved in sex-reversal. In this study we have mapped on porcine chromosomes seven genes which might be implicated in this developmental pathway. Four genes were mapped by radioactive in situ hybridization: AMH (Anti-Müllerian Hormone) and WT1 (Wilms’ Tumor gene 1) were both mapped to pig chromosome 2 (SSC2) in the q14→q21 and p14→q11 regions, placental CYP19 (cytochrome P450, subfamily XIX) and FTZF1 (fushi tarazu factor [Drosophila] homolog 1, alias SF1 [steroidogenic factor 1]) to pig chromosome 1 (SSC1) in the q14→q17 and q210→q211 regions respectively. Four other genes were regionally located by PCR analysis on a cytogenetically characterized porcine somatic cell hybrid panel: a second CYP19 gene (expressed in embryo) was mapped to porcine 1q12→q17, AHC (alias DAX1 adrenal hypoplasia congenital) to porcine Xp24, SOX2 and SOX9 (SRY sex determining region Y-box 2 and 9) to 13q23→q41 and 12p13→p11 respectively. These results are in global agreement with mapping data available in other mammalian species.

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On the Inheritance of Intersexuality in Swine

Cited by 25 publications

References 31 publications

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

Mapping in pig of genes involved in sexual differentiation: AMH, WT1 FTZF1, SOX2, SOX9, AHC, and placental and embryonic CYP19

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