http://www.cnr.it/ontology/cnr/individuo/prodotto/ID51573

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

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

Anno

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Alternative label

De Lorenzi L, Genualdo V, Iannuzzi A, Di Meo GP, Perucatti A, Mancuso R, Russo M, Di Berardino D, Parma P, Iannuzzi L. (2010)
Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64).
in Sexual development (Print); Karger, Basel (Swaziland)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

De Lorenzi L, Genualdo V, Iannuzzi A, Di Meo GP, Perucatti A, Mancuso R, Russo M, Di Berardino D, Parma P, Iannuzzi L. (literal)

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Note

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a Department of Animal Production, University of Milan, Milan , b National Research Council (CNR), ISPAAM, Laboratory of Animal Cytogenetics and Gene Mapping, Naples , c Department of Animal Production, Universityof Bari, Bari , d Department of Soil, Plant, Environment and Animal Production Sciences, University of Naples'Federico II', Portici , e Veterinary Practitioner, Palermo , f Department of Veterinary Clinical Sciences, Veterinary School of Naples University 'Federico II', Naples , Italy (literal)

Titolo

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

Abstract

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. (literal)

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