Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64).
Summary of "Cytogenetic and Genetic Studies in a Hypospadic Horse (Equus caballus, 2n = 64)."
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.
Affiliation
Department of Animal Production, University of Milan, Milan, Italy.
Journal Details
This article was published in the following journal.
Name: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and d
ISSN: 1661-5433
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20733278
- DOI: http://dx.doi.org/10.1159/000319527
Medical and Biotech [MESH] Definitions
Horse Diseases
Diseases of domestic and wild horses of the species Equus caballus.
Epidemiologic Studies
Studies designed to examine associations, commonly, hypothesized causal relations. They are usually concerned with identifying or measuring the effects of risk factors or exposures. The common types of analytic study are CASE-CONTROL STUDIES; COHORT STUDIES; and CROSS-SECTIONAL STUDIES.
Recombination, Genetic
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Genetics, Population
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Cross-sectional Studies
Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.
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