A case of azoospermia in a bull carrying a Y-autosome reciprocal translocation

The aim of this article is not to present an exhaustive review of molecular cytogenetics applications in domestic animal species, but more to illustrate the considerable contribution of these approaches in diagnostics and research in economically important species. A short presentation of the main applications of molecular cytogenetics in humans points out the domains in which it has become an essential tool and underlines the specificities attached to this species in comparison to farm animals. This article is devoted to outlining the current resources available in domestic species and to some examples of fluorescence in situ hybridization applications in the cattle, pig, horse and avian species. From a clinical point of view, these examples illustrate the advantages of FISH for the study of chromosomal abnormalities (identification, characterization and estimation of their effects). Other applications of molecular cytogenetics are also illustrated, particularly ZOO-FISH, an approach which allows the determination of chromosome homologies between species. Finally, a specific emphasis was placed on the usefulness of molecular cytogenetics for the analysis of species such as poultry, which harbour a complex karyotype.

Section: Fish Applied To Clinical Cytogenetics Of Domestic Animalsmentioning

confidence: 99%

Fluorescence in situ Hybridization Applied to Domestic Animal Cytogenetics

Rubeš

Pinton

Bonnet-Garnier

et al. 2009

“…sence of gamete production (azoospermia), as, for instance, in the case of gonosome-autosome translocations (Iannuzzi et al, 2001;Sun et al, 2005). Carriers of translocations generally produce two types of gametes, either genetically balanced (carrying the rearranged chromosomes or not) or genetically unbalanced with a gain or loss of part of the genetic material (the relative proportions depending on the abnormality involved).…”

mentioning

confidence: 99%

Sperm nuclei analysis of 1/29 Robertsonian translocation carrier bulls using fluorescence in situ hybridization

Bonnet-Garnier

Pinton

Berland

et al. 2006

Self Cite

In 1964, Gustavsson and Rockborn first described the 1/29 Robertsonian translocation in cattle. Since then, several studies have demonstrated the negative effect of this particular chromosomal rearrangement on the fertility of carrier animals. During the last decade, meiotic segregation patterns have been studied on human males carrying balanced translocations using FISH on decondensed sperm nuclei. In this work, we have applied the ‘Sperm-FISH’ technique to determine the chromosomal content of spermatozoa from two bulls heterozygous for the 1/29 translocation and one normal bull (control). 5425 and 2702 sperm nuclei were scored, respectively, for the two heterozygous bulls, using whole chromosome painting probes of chromosomes 1 and 29. Very similar proportions of normal (or balanced) spermatozoa resulting from alternate segregation were observed (97.42% and 96.78%). For both heterozygous bulls, the proportions of nullisomic and disomic spermatozoa did not follow the theoretical 1:1 ratio. Indeed, proportions of nullisomic spermatozoa were higher than those of disomic sperma tozoa (1.40% vs 0.09% (bull 1) and 1.29% vs 0.15% (bull 2) for BTA1, and 0.65% vs 0.40% (bull 1) and 1.11% vs 0.63% (bull 2) for BTA29). The average frequencies of disomic and diploid spermatozoa in the normal bull were 0.11% and 0.05%, respectively.

“…Furthermore, several loci were localized on chromosome regions lacking markers (DIK26 to 1q24, CSSM147 to 2p27, McM218 to 4q15, D10S2 to 7q22, D9S5 and D9S3 to 8q14 and 8q24, respectively, OarCP09 and BM4208 to 9q22 and 9q24, respectively, BM0848 to 15q29, D20S10 to 16q13.3, D18S17 and D21S12 to 18q22, ADCY to 23q25, D27S10 to 26q15) (SheepBase; Iannuzzi et al, 1999Iannuzzi et al, , 2000bIannuzzi et al, , 2001aIannuzzi et al, , 2001bDi Meo et al, 2000. More precise localizations of molecular markers and their ordering along the chromosomes are particularly important in order to detect chromosome rearrangements that may have occurred during chromosome evolution of bovids (Piumi et al, 1998;Iannuzzi et al, 2000aIannuzzi et al, , 2001b or chromosome abnormalities, as demonstrated in cattle (Iannuzzi et al, 2001c(Iannuzzi et al, , 2001d. With the 60 loci assigned in the present study, the total number of loci assigned to specific sheep chromosome regions amounts to 211 (SheepBase).…”

Section: Resultsmentioning

confidence: 89%

Chromosomal localization of sixty autosomal loci in sheep (<i>Ovis aries</i>, 2n = 54) by fluorescence in situ hybridization and R-banding

Iannuzzi

Perucatti²,

Meo³

et al. 2003

Self Cite

Sixty autosomal loci (5 type I and 55 type II) from 24 bovine syntenic groups, and previously FISH-mapped to goat and river buffalo chromosomes, were localized by fluorescence in situ on sheep (Ovis aries, 2n = 54) chromosomes, thereby notably extending the cytogenetic map of this economically important species. Caprine BAC clones were hybridized to R-banded chromosome preparations. FITC-signals and RBPI- banding (R-banding by late BrdU-incorporation and propidium iodide staining) were simultaneously visualized and captured by a colour CCD-camera. All mapped loci were localized on homoeologous chromosomes and chromosome regions (bands) of sheep, goat and river buffalo, further supporting chromosome and genetic (loci) homoeologies among bovids.