Chromosome aberrations and their influence on the reproductive performance of domestic animals ‐ a review

Cytogenetic investigations performed in eight Portuguese cattle breeds revealed the presence of rob(1;29) in both heterozygous and homozygous conditions in all, and five breeds, respectively, with variable percentages of carriers as follows: 41.0% in Arouquesa, 69.9% in Barrosa, 39.4% in Maronesa, 2.8% in Mirandesa, 8.5% in Marinhoa, 1.8% in Mertolenga, 21.3% in Raca Brava and 21.5% in Alentejana. CBA- and RBA-banding were performed to ascertain the chromosomes involved in the chromosome abnormality. A total of 1,626 animals were investigated. Reproductive parameters (number of calves per 100 cows) were higher in Mirandesa (80%) when compared with both Maronesa (75%) and Barrosa (70%) breeds, underlining that rob(1;29) reduces fertility in the carriers.

Section: Abstract Cytogenetic Investigations Performed In Eightsupporting

confidence: 66%

Frequency and distribution of rob(1;29) in eight Portuguese cattle breeds

Iannuzzi¹,

Meo

Jambrenghi³

et al. 2008

“…This means that even if few male cells are present, the presence of male hormones, in particular AMH, affect internal sex female development [Ruvinsky and Spicer, 1999;Cabianca et al, 2007]. For this same reason, male freemartins are less exposed to sex damage, although some cases with reduced fertility have also been reported in freemartin males [Dunn et al, 1979;Gustavsson, 1980;Bongso et al, 1981;Seguin et al, 2000]. Although few cases of freemartin have been found in river buffalo so far [Balakrishnan et al, 1981;Di Meo et al, 2008], almost all freemartin females studied in Italian river buffaloes were from single birth [Di Meo et al, 2008].…”

Section: Xx/xy Chimerismmentioning

confidence: 99%

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

Villagómez

Parma

Radi

et al. 2009

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.

“…Copyright © 2011 S. Karger AG, Basel While variation in the number of autosomes often causes abnormal body conformation making it easy for the breeders to eliminate carrier animals, structural and balanced autosomal aberrations escape normal breeding selection because the carriers have normal body conformation. These chromosome abnormalities are often the cause of low fertility or sterility [Gustavsson, 1980;Molteni et al, 2007;Ducos et al, 2008] and without cytogenetic control they can easily spread in the progeny, especially when artificial insemination is applied.In cattle, the most common chromosome abnormalities are the Robertsonian or centric-fusion translocations [for review see Ducos et al, 2008;Iannuzzi et al, 2009]. In fact, to date few cases of reciprocal translocations have been reported in cattle [de Schepper et al, 1982;Mayr et Key Words Agerolese breed ؒ Cattle ؒ Chromosome abnormality ؒ Chromosome banding ؒ FISH Abstract A new and unusual reciprocal translocation was detected in a heifer of the Agerolese cattle breed during a routine cytogenetic screening carried out on 13 animals (2 males and 11 females) kept at the ConSDABI Conservation Center in Benevento (Southern Italy).…”

mentioning

confidence: 99%

A New and Unusual Reciprocal Translocation in Cattle: rcp(11;25)(q11;q14–21)

Perucatti

Genualdo²,

Iannuzzi³

et al. 2011

A new and unusual reciprocal translocation was detected in a heifer of the Agerolese cattle breed during a routine cytogenetic screening carried out on 13 animals (2 males and 11 females) kept at the ConSDABI Conservation Center in Benevento (Southern Italy). The 13 animals investigated had a normal karyotype except for a 1-year-old female, which carried one autosome smaller than the smallest normal bovine autosomes. This small autosome showed very little C-banding in comparison to the other autosomes, while another medium-sized autosome showed 2 distinct and prominent C-bands. RBA-banding and karyotype analysis revealed that these 2 chromosomes were the result of a reciprocal translocation between chromosomes 11 and 25. FISH analysis with BAC142G06 mapping to the proximal (subcentromeric) region of both BTA25 and der11, BAC513H08 (ELN) mapping to BTA25q22dist and der25, and BAC533C11 mapping to the proximal region of BTA11 and der11 confirmed the localization of the breakpoints on band q11 (centromere) of chromosome 11 and q14–21 of chromosome 25. Ag-NOR and sequential RBA/Ag-NOR techniques detected the presence of NORs on both BTA11 and BTA25 and both der11 and der25. To our knowledge, this is the first report of a reciprocal translocation event in cattle with the breakpoint located in the centromeric region.