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EN
In this study we microdissected the proximal part band Xq24 of the bovine X chromosome long arm, in which the Xist gene is located in cattle. The obtained DNA fragment was PCR amplified, labelled and used as a probe for cattle, sheep and goat chromosomes. In cattle, as expected, distinct hybridization signals were observed on Xq24. The painting signals were also observed on Xq24 in sheep and goat. The chromosome painting probes can be used for comparative mapping and searching for internal X chromosome rearrangements in Bovidea and may contribute to the understanding of mammalian sex chromosome evolution.
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2009
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vol. 57
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issue 1-2
49-55
EN
The aim of the study was to optimize hybridization conditions of molecular probes specific for X sex chromosomes of the domestic horse in mare oocyte chromosomes. Mare oocytes, recovered from slaughterhouse ovaries by scraping the granulosa layer, were cultured in vitro. Metaphase II mature oocytes were treated with hypotonic solution and fixed, followed by hybridization of themolecular probe specific for the X chromosome of the domestic horse. Hybridization of probes specific formouse heterosomes onmouse oocytes and early embryos was performed to verify the FISH technique. Of 438 oocytes analysed, 29% reached metaphase II. Despite many changes in the composition of hypotonic solutions and modification of the FISH protocol, the fluorescence signal was observed in mouse oocytes and embryos but not in mare oocytes.
EN
The aetiology of variation in transcription of ribosomal genes is still an open question. Investigations carried out in many organisms showed that the variation depends not only on genetic mechanisms such as rDNA methylation, elimination of rDNA or the position effects. In this review, we discuss the results of the studies on repression of rRNA transcriptional activation from protein factors to conditions of cell culture, which may influence the variation of nucleolar organizer region activity.
EN
Karyotypes of the aoudad and sheep were compared on the basis of G-banded chromosomes at the 450 band level. The common G-banded karyotype showed the homology of all aoudad chromosomes (2n=58) with sheep chromosomes (2n=54) or sheep chromosome arms. The results of cytogenetic investigations suggest that in this case karyotype evolution has led to reduction in chromosome number as a result of centric fusions. The formation of the first metacentric chromosome occurred in the aoudad. The homology of the G-banding pattern in sheep and aoudad suggests the conservation in linear arrangement of genetic material. Thus comparative cytogenetics can be a useful tool in gene mapping.
EN
Doublesex and mab-3 related transcription factor 1 (DMRT1) is considered to be the most conserved gene among loci involved in the molecular pathways of animal sexual development. In the majority of the extensively examined vertebrates, its function is limited to the upstream or downstream testis regulators acting during embryogenesis. Our present study demonstrated the structural homology between DMRT1 orthologos in human and cattle. A BAC clone with a specific bovine sequence of the gene was used in the FISH mapping experiments. The physical localization of DMRT1 in cattle (BTA 8q17) was determined and its homology to the human locus was shown (HSA 9p24.3). Furthermore, another BAC probe, containing the sequence of the human homologue (pBACe3.6), generated hybridisation signals on bovine metaphase chromosomes and indicated the physical location of the autosomal bovine DMRT1 locus. Further investigations of the gene in domestic animals might provide more support for its conservative status and may help in understanding the molecular mechanisms involved in the occurrence of sexual abnormalities often diagnosed in livestock.
EN
In this case report we present a child with an additional chromosome in the karyotype. The karyotypes of the boy and his parents were analyzed by use of a conventional banding technique (GTG) and fluorescence in situ hybridization (FISH). Probes painting whole chromosomes 12 and 18 were used in FISH. Cytogenetic examination of the parents revealed that his mother was carrying balanced reciprocal translocation between chromosomes 12 and 18. Her karyotype was described as 46,XX,t(12;18)(p13;q12). Father's karyotype was normal, described as 46,XY. The boy's karyotype was defined as 47,XY,+der(18)t(12;18)(p13;q12). The additional chromosome appeared probably due to 3:1 meiotic disjunction of the maternal balanced translocation, known as tertiary trisomy. The mother displayed a normal phenotype and delivered earlier a healthy child. However, the boy with the unbalanced karyotype shows multiple congenital abnormalities.
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