X chromosome inactivation in X autosome translocation carrier cows

Basrur, Parvathi K.; Pinheiro, L. E. L.; Berepubo, N. A.; Reyes, E R; Popescu, P.

doi:10.1139/g92-101

Cited by 10 publications

(7 citation statements)

References 30 publications

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“…However not all cases with a balanced X;autosome translocation exhibit complete nonrandom inactivation of the normal X chromosome [Mattei et al, 1982;Schmidt and Du Sart, 1992]. Based on late replication studies, approximately 10-15% of reported cases have an inactive der(X) in a proportion of cells with most of these cases having breakpoints in the distal regions of Xp and Xq [Basrur et al, 1992;Schmidt and Du Sart, 1992].…”

Section: Discussionmentioning

confidence: 99%

“…Ear skin biopsies collected from two normal crossbred beef cows (with normal karyotype) and a crossbred beef cow identified as a carrier of a previously described X;autosome translocation rcp(Xp+;23q-) [Basrur et al, 1992], were used for this study. Each biopsy was chopped and the tissues were incubated in 0.5% collagenase in phosphate buffered saline (PBS) at 39 ° C for 3 h, followed by dispersal in Dulbecco's Modified Eagle's Medium (DMEM; Gibco, Grand Island, NY) containing 7% fetal bovine serum (FBS; Invitrogen Canada Inc., Burlington, ON) by repeated pipetting through a 100-l micropipette tip to make single cell suspensions.…”

Section: Cell Culture and Preparation Of Metaphase Platesmentioning

confidence: 99%

“…In our laboratory we have studied a family of crossbred beef cattle carrying a reciprocal translocation between the X chromosome and chromosome 23, rcp(Xp+; 23q-). In this line, the translocation is maternally inherited and females invariably show nonrandom XCI, with the normal, paternally derived X, preferentially inactivated [Basrur et al, 1992].…”

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confidence: 99%

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Spatial Distribution of Histone Isoforms on the Bovine Active and Inactive X Chromosomes

Coppola

Pinton²,

Joudrey³

et al. 2008

Sex Dev

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The inactive X chromosome (Xi) in female mammals serves as an important model for studying the role of histone isoforms in directing specific nuclear processes leading to inherited differences in transcription. In the present study, we investigated the distribution of some histone isoforms known to be involved in the process of human X inactivation on their bovine counterparts. To ascertain the identity of active and inactive X chromosome, their distribution was investigated on the X chromosomes in a cell line derived from a bovine female carrying an X;autosome translocation rcp(Xp+;23q–) which allowed the recognition of the maternal (translocated) and paternal (normal) X chromosome. The distribution patterns of histone H3 trimethylated at lysine 9 (H3K9me3) and trimethylated at lysine 27 (H3K27me3), and histone macroH2A1 and macroH2A2 (isoforms specific to heterochromatin) were determined by immunocytochemistry and compared to the temporal pattern of replication using BrdU pulse labeling prior to staining. Immunostaining revealed that H3K9me3, H3K27me3, and macroH2A1 are preferentially concentrated on the Xi, whereas the histone variant macroH2A2 is not a marker for this chromosome. H3K9me3, H3K27me3, and macroH2A1 were consistently located in bands along the Xi, while H3K9me3, macroH2A1 and macroH2A2 localized in the pericentromeric regions of the autosomes. H3K27me3 identified two intense bands on the Xi at Xp22 and Xq31, representing the early replication regions of the chromosome. H3K27me3 and macroH2A1 overlapped in the Xq31 region. It was concluded that different heterochromatin regions on the bovine inactive X chromosome can be identified by their histone isoform composition.

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Section: Discussionmentioning

confidence: 99%

Section: Cell Culture and Preparation Of Metaphase Platesmentioning

confidence: 99%

See 1 more Smart Citation

Spatial Distribution of Histone Isoforms on the Bovine Active and Inactive X Chromosomes

Coppola

Pinton²,

Joudrey³

et al. 2008

Sex Dev

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show abstract

“…In addition, the characterization of some original and rare chromosomal rearrangements led to particularly interesting scientific developments (e.g. the X;autosome reciprocal translocation identified in cattle by our Canadian colleagues - Basrur et al, 1992Basrur et al, , 2001Rho et al, 2007) related to the establishment of physical gene maps and understanding of basic developmental phenomena such as X-chromosome inactivation.…”

mentioning

confidence: 99%

Cytogenetic screening of livestock populations in Europe: an overview

Ducos

Révay

Kovács

et al. 2008

Cytogenet Genome Res

117

160

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Clinical animal cytogenetics development began in the 1960’s, almost at the same time as human cytogenetics. However, the development of the two disciplines has been very different during the last four decades. Clinical animal cytogenetics reached its ‘Golden Age’ at the end of the 1980’s. The majority of the laboratories, as well as the main screening programs in farm animal species, presented in this review, were implemented during that period, under the guidance of some historical leaders, the first of whom was Ingemar Gustavsson. Over the past 40 years, hundreds of scientific publications reporting original chromosomal abnormalities generally associated with clinical disorders (mainly fertility impairment) have been published. Since the 1980’s, the number of scientists involved in clinical animal cytogenetics has drastically decreased for different reasons and the activities in that field are now concentrated in only a few laboratories (10 to 15, mainly in Europe), some of which have become highly specialized. Currently between 8,000 and 10,000 chromosomal analyses are carried out each year worldwide, mainly in cattle, pigs, and horses. About half of these analyses are performed in one French laboratory. Accurate estimates of the prevalence of chromosomal abnormalities in some populations are now available. For instance, one phenotypically normal pig in 200 controlled in France carries a structural chromosomal rearrangement. The frequency of the widespread 1;29 Robertsonian translocation in cattle has greatly decreased in most countries, but remains rather high in certain breeds (up to 20–25% in large beef cattle populations, even higher in some local breeds). The continuation, and in some instances the development of the chromosomal screening programs in farm animal populations allowed the implementation of new and original scientific projects, aimed at exploring some basic questions in the fields of chromosome and/or cell biology, thanks to easier access to interesting biological materials (germ cells, gametes, embryos ...).

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“…One such case is a family of cross-bred beef cattle carrying a reciprocal translocation between an X chromosome and chromosome 23, rcp(Xp+; 23q-). In this family, the translocation is maternally inherited and females invariably show non-random patterns of X inactivation, with the paternal (normal) X preferentially inactivated (Basrur et al, 1992(Basrur et al, , 2001a. Taking advantage of the morphological mark provided by this translocation to distinguish inactive from active X chromosome, an examination was carried out on the spatial distribution of a variety of histone isoforms including the histone H3, trimethylated at lysine-9 (H3K9me3) and at lysine-27 (H3K27me3), and two macro histones (macroH2A1 and macroH2A2).…”

Section: Heterochromatin Epigenetics and Chromatin Re-modelingmentioning

confidence: 99%

Veterinary cytogenetics: past and perspective

Basrur

Stranzinger²

2008

Cytogenet Genome Res

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Cytogenetics was conceived in the late 1800s and nurtured through the early 1900s by discoveries pointing to the chromosomal basis of inheritance. The relevance of chromosomes to human health and disease was realized more than half a century later when improvements in techniques facilitated unequivocal chromosome delineation. Veterinary cytogenetics has benefited from the information generated in human cytogenetics which, in turn, owes its theoretical and technical advancement to data gathered from plants, insects and laboratory mammals. The scope of this science has moved from the structure and number of chromosomes to molecular cytogenetics for use in research or for diagnostic and prognostic purposes including comparative genomic hybridization arrays, single nucleotide polymorphism array-based karyotyping and automated systems for counting the results of standard FISH preparations. Even though the counterparts to a variety of human diseases and disorders are seen in domestic animals, clinical applications of veterinary cytogenetics will be less well exploited mainly because of the cost-driven nature of demand on diagnosis and treatment which often out-weigh emotional and sentimental attachments. An area where the potential of veterinary cytogenetics will be fully exploited is reproduction since an inherited aberration that impacts on reproductive efficiency can compromise the success achieved over the years in animal breeding. It is gratifying to note that such aberrations can now be tracked and tackled using sophisticated cytogenetic tools already commercially available for RNA expression analysis, chromatin immunoprecipitation, or comparative genomic hybridization using custom-made microarray platforms that allow the construction of microarrays that match veterinary cytogenetic needs, be it for research or for clinical applications. Judging from the technical refinements already accomplished in veterinary cytogenetics since the 1960s, it is clear that the importance of the achievements to date are bound to be matched or out-weighed by what awaits to be accomplished in the not-too-far future.

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X chromosome inactivation in X autosome translocation carrier cows

Cited by 10 publications

References 30 publications

Spatial Distribution of Histone Isoforms on the Bovine Active and Inactive X Chromosomes

Spatial Distribution of Histone Isoforms on the Bovine Active and Inactive X Chromosomes

Cytogenetic screening of livestock populations in Europe: an overview

Veterinary cytogenetics: past and perspective

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