Clinical, cytogenetic and molecular evaluation in a dog with bilateral cryptorchidism and hypospadias

Cassata, R.; Iannuzzi, Alessandra; Parma, P.; Lorenzi, L. De; Peretti, V.; Perucatti, A.; Iannuzzi, L.; Meo, G. P. Di

doi:10.1159/000118753

Cited by 22 publications

(17 citation statements)

References 29 publications

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“…In domestic animals a previous cytogenetic and molecular investigation in a dog affected by bilateral cryptorchidism and hypospadias revealed a normal male karyotype but with a slightly different sequence in the INSL3 gene [Cassata et al, 2008]. In the present study we used the same approach in a hypospadic horse and found both cytogenetic and genetic mutations.…”

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confidence: 62%

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Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64)

Lorenzi

Genualdo

Iannuzzi

et al. 2010

Sex Dev

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A 4-year-old male horse of Friesian breed with normal body conformation, development and libido, and showing an evident ventral penis deviation with hypospadias, underwent both cytogenetic and genetic investigation. Although the karyotype showed normal male arrangement (2n = 64,XY), one telomere of horse (ECA) chromosome 1 was shorter than both the other one and those of a normal horse (control), as revealed by CBA- and RBA-banding, and by Ag-NOR and FISH-mapping techniques using telomere PNA probes. Genetic investigation of the SRY and MAMLD1 coding sequences revealed a normal SRY sequence and a mutation in the MAMLD1 gene sequence: a homozygous change (C>A) was found, leading to the synthesis of an isoleucine, instead of a leucine. Although it is difficult to find a strict correlation between hypospadias and the genetic defects revealed by this investigation, this study is the first to be performed in a hypospadic horse using both cytogenetic and genetic investigation.

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supporting

confidence: 62%

“…PCR amplification of the coding sequence was performed as reported by Cassata et al [2008]: the primer sequences are reported in table 1 . PCR products were purified using the UltraClean PCR Clean up kit (MoBio, Carlsbad, CA, USA) and sequenced from both strands.…”

Section: Mamld1 and Sry Sequencingmentioning

confidence: 99%

Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64)

Lorenzi

Genualdo

Iannuzzi

et al. 2010

Sex Dev

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“…As it is likely familial in the Boston terrier, studies in this breed could serve as a model for humans. Hypospadias has also been reported in association with other canine abnormalities, such as cryptorchidism [Hayes and Wilson, 1986;Cassata et al, 2008], scrotal abnormalities [Jurka et al, 2009], anorectal defects [Hayes and Wilson, 1986;Cashmore and Ladlow, 2010], and XX DSD (below).…”

Section: Isolated Hypospadiasmentioning

confidence: 93%

“…Although genome wide linkage analysis identified a 5.5-Mb region associated with XX DSD in the model pedigree [Pujar et al, 2007], subsequent fine mapping has not yet identified a causative mutation in that region. Similarly, exon scanning ruled out mutations in the coding region of canine RSPO1 , and in affected dogs of most breeds in which XX DSD has been reported [DeLorenzi et al, 2008]. This type of XX DSD has now been reported in at least 28 breeds and 1 mixed breed ( table 2 ).…”

Section: Dsdmentioning

confidence: 95%

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

Meyers-Wallen¹

2011

Sex Dev

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The molecular steps in normal sexual development were largely discovered by studying patients and animal models with disorders of sexual development (DSD). Although several types of DSD have been reported in the cat and dog, which are often strikingly similar to human DSD, these have been infrequently utilized to contribute to our knowledge of mammalian sexual development. Canine and feline cases of DSD with sufficient evidence to be considered as potential models are summarized in this report. The consensus DSD terminology, and reference to previous terminology, is used to foster adoption of a common nomenclature that will facilitate communication and collaboration between veterinarians, physicians, and researchers. To efficiently utilize these unique resources as molecular tools continue to improve, it will be helpful to deposit samples from valuable cases into repositories where they are available to contribute to our understanding of sexual development, and thus improve human and animal health.

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“…Hypospadias and cryptorchidism are 2 anomalies of abnormal sexual development described in dogs. These 2 clinical conditions can appear jointly in the same individual or as a single identity [Cassata et al, 2008]. Up to date no causative mutation has been reported in dogs and the use of ad-hoc constituted pedigrees could help to identify causative mutations or, at least, to exclude the genetic factors already involved in the same pathologies in other species [Diribarne et al, 2009].…”

Section: Chromosomal Sex Establishment Errorsmentioning

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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Clinical, cytogenetic and molecular evaluation in a dog with bilateral cryptorchidism and hypospadias

Cited by 22 publications

References 29 publications

Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64)

Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64)

Gonadal and Sex Differentiation Abnormalities of Dogs and Cats

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

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