Abstract:
:Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences in the chromosome classification, the 2 karyotypes are very similar in banding patterns. In this study, the combination of bioinformatics techniques and physical mapping of DNA markers enabled the identification of a micro-rearrangement, a small inversion involving bovine chromosome 21 (BTA21) and the corresponding sheep chromosome 18 (OAR18). The aim of this study was the cytogenetic characterization of this difference in genomic assemblies between cattle and sheep in this single chromosome region. To verify the inversion in FISH experiments, we used the BACs 442H08 and 222H03 from the INRA library and BACs 134H22 and 436P08 from the sheep-specific CHORI library. The results confirmed the presence of the inverted fragment in sheep compared to the cattle genome. Genomic rearrangements may have consequences depending on their influence on gene activity, but in this case no gene or transcribed DNA portion seemed to be involved. In conclusion, we showed for the first time, concerning autosomes, that besides the already known centric fusions also other differences exist between the bovine and sheep karyotypes. Furthermore, we demonstrated that the combination of a bioinformatics approach and physical mapping is a valid tool for the identification of currently unknown rearrangements between related species.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
De Lorenzi L,Pauciullo A,Iannuzzi A,Parma Pdoi
10.1159/000507645subject
Has Abstractpub_date
2020-01-01 00:00:00pages
193-198issue
4eissn
1424-8581issn
1424-859Xpii
000507645journal_volume
160pub_type
杂志文章abstract::Genetic maps are based on the recombination frequency of molecular markers which often show different positions in comparison to the corresponding physical maps. To decipher the position and order of DNA sequences genetically mapped to terminal and interstitial regions of barley (Hordeum vulgare) chromosome 3H, fluore...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000478631
更新日期:2017-01-01 00:00:00
abstract::Osteosarcomas are primary tumors of bone that most often develop in adolescents. They are characterized by complex genomic changes including amplifications, deletions, and translocations. The chromosome region 17p11.2p12 is frequently amplified in human high grade osteosarcomas (25% of cases), suggesting the presence ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000451046
更新日期:2016-01-01 00:00:00
abstract::To study the origin and evolution of naturally occurring polyploids, we performed phylogenetic analyses of nuclear ribosomal DNA spacers combined with molecular cytogenetics in 55 accessions of 27 taxa of the oat genus Helictochloa. A complex pattern of reticulate evolution was revealed with many diploid species and e...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000361002
更新日期:2014-01-01 00:00:00
abstract::This review summarizes older as well as recent data about the model dioecious plant Silene latifolia. This plant has been the subject of more than one hundred years of research efforts and its most conspicuous property is huge and well differentiated heteromorphic sex chromosomes, XX in females and XY in males. Due to...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000314285
更新日期:2010-07-01 00:00:00
abstract::A reduction in recombination in the pseudoautosomal region is associated with an increased frequency of aneuploid 24,XY human sperm. Similarly, individuals with paternally derived Klinefelter syndrome (47,XXY) also have a paucity of recombination in the chromosomes that have undergone nondisjunction. Meiotic studies u...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000086895
更新日期:2005-01-01 00:00:00
abstract::Analysis of the horse genome is proceeding at a rapid pace. Within a short span of 6-7 years, approximately 1,500 markers have been mapped in horse, of which at least half are genes/ESTs. Health, performance and phenotypic characteristic are of major concern/interest to horse breeders and owners. Current efforts to an...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000075746
更新日期:2003-01-01 00:00:00
abstract::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...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000118755
更新日期:2008-01-01 00:00:00
abstract::Only mammals have relinquished parthenogenesis as a means of producing descendants. Bi-parental reproduction is necessary due to parent-specific epigenetic modification of the genome during gametogenesis, which leads to non-equivalent expression of imprinted genes from the maternal and paternal alleles. However, a ser...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000090812
更新日期:2006-01-01 00:00:00
abstract::Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (Sumacr;CL iumacr;nterrupting lumacr;ocus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000064057
更新日期:2002-01-01 00:00:00
abstract::The common fragile sites (CFSs) are large regions of profound genomic instability found in all individuals. A number of the CFSs have been found to span genes that extend over large genomic regions (>700 kb). The expression of these genes is frequently abrogated in a number of different cancers and several of them hav...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000138886
更新日期:2008-01-01 00:00:00
abstract::The relationship between the apparently random chromosomal changes found in aneuploidy and the genetic instability driving the progression of cancer is not clear. We report a test of the hypothesis that aneuploid chromosomal abnormalities might be selected to preserve cell-survival genes during loss of heterozygosity ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000100406
更新日期:2007-01-01 00:00:00
abstract::Huntington's disease (HD) is a genetically dominant neurodegenerative condition caused by an unique mutation in the disease gene huntingtin. Although the Huntington protein (Htt) is ubiquitously expressed, expansion of the polyglutamine tract in Htt leads to the progressive loss of specific neuronal subpopulations in ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000072864
更新日期:2003-01-01 00:00:00
abstract::The etiology of primary cutaneous T-cell lymphomas (CTCL) has been poorly understood. CTCL patients show a large variety of non-clonal and clonal chromosome aberrations, but no specific aberration has been found until recently. This review describes cytogenetic and molecular cytogenetic findings and their relevance to...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000108320
更新日期:2007-01-01 00:00:00
abstract::ATM, the protein product of the gene mutated in the human autosomal recessive disorder ataxia telangiectasia, is involved in detection of double strand breaks (DSBs) and is a key component of the damage surveillance network of cell cycle proteins. In somatic cells ATM phosphorylates many other proteins including p53, ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000080603
更新日期:2004-01-01 00:00:00
abstract::DNA methylation has been implicated in mammalian development. Transcription units contain CpG islands, but expression of CpG island associated genes in normal tissues was not believed to be controlled by DNA methylation. There are, however, numerous CpG islands containing tissue-dependent and differentially methylated...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000078205
更新日期:2004-01-01 00:00:00
abstract::Integrase (IN) and reverse transcriptase (RT) play a central role in transposition of retroelements. The mechanism of integration by IN and the steps of the replication process mediated by RT are briefly described here. Recently, active recombinant forms of Ty1 IN and RT have been obtained. This has allowed a more det...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000084960
更新日期:2005-01-01 00:00:00
abstract::The Ph1 locus in hexaploid wheat (Triticum aestivum L.) enforces diploid-like behavior in the first metaphase of meiosis. To test the hypothesis that this chromosome pairing control is exercised by affecting the degree of chromatin condensation, the dispersion of rye chromatin in interphase nuclei in somatic tissues o...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000112072
更新日期:2007-01-01 00:00:00
abstract::During this study, we analysed the pericentric inversion that distinguishes human chromosome 12 (HSA12) from the homologous chimpanzee chromosome (PTR10). Two large chimpanzee-specific duplications of 86 and 23 kb were observed in the breakpoint regions, which most probably occurred associated with the inversion. The ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000080806
更新日期:2005-01-01 00:00:00
abstract::New data are presented on the sex chromosomes of the fish species Eigenmannia virescens (Gymnotiformes, Sternopygidae). A new finding, involving the occurrence of ZZ/ZW sex chromosomes, is described in specimens sampled from the São Francisco and Amazon river basins in Brazil. All individuals had a chromosome number o...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000071589
更新日期:2002-01-01 00:00:00
abstract::Recent studies of the LTR-retrotransposons of Schizosaccharomyces pombe have shed considerable light on their evolution and function. The sequencing of the S. pombe genome allowed analysis of its transposon content. This analysis provides information about the maintenance and loss of transposons in the genome. The res...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000084990
更新日期:2005-01-01 00:00:00
abstract::The detection of quantitative changes in genomic DNA, i.e. deletions and duplications or Copy Number Variants (CNVs), has recently gained considerable interest. First, detailed analysis of the human genome showed a surprising amount of CNVs, involving thousands of genes. Second, it was realised that the detection of C...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000184723
更新日期:2008-01-01 00:00:00
abstract::X chromosome inactivation and DNA methylation are reviewed, with emphasis on the contributions of Susumu Ohno and the predictions made in my 1975 paper (Riggs, 1975), in which I proposed the "maintenance methylase" model for somatic inheritance of methylation patterns and suggested that DNA methylation would be involv...
journal_title:Cytogenetic and genome research
pub_type: 传,历史文章,杂志文章,评审
doi:10.1159/000071569
更新日期:2002-01-01 00:00:00
abstract::LINE-1 (L1) retrotransposons constitute the dominant category of transposons in mammalian genomes. L1 elements are active in the vast majority of mammals, and only a few cases of L1 extinction have been documented. The only possible case of extinction in primates was suggested for South American spider monkeys. Howeve...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000490481
更新日期:2018-01-01 00:00:00
abstract::Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a rare, multisystemic, autosomal recessive condition typically presenting with digital clubbing, osteoarthropathy, and various skin manifestations. Radiographs show distinctive periosteal reaction and thickening along the long bones. ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000500988
更新日期:2019-01-01 00:00:00
abstract::Approximately 15 patients with partial trisomy 9p involving de novo duplications have been previously described. Here, we present clinical, cytogenetic, FISH and aCGH findings in a patient with a de novo complex rearrangement in the short arm of chromosome 9 involving an inverted duplication at 9p24-->p21.3 and a dele...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000251966
更新日期:2009-01-01 00:00:00
abstract::We have made a set of chromosome-specific painting probes for the American mink by degenerate oligonucleotide primed-PCR (DOP-PCR) amplification of flow-sorted chromosomes. The painting probes were used to delimit homologous chromosomal segments among human, red fox, dog, cat and eight species of the family Mustelidae...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000063032
更新日期:2002-01-01 00:00:00
abstract::Apart from a personal tragedy, could Down syndrome, cancer and infertility possibly have something in common? Are there links between a syndrome with physical and mental problems, a tumor growing out of control and the incapability to reproduce? These questions can be answered if we look at the biological functions of...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000323507
更新日期:2011-01-01 00:00:00
abstract::Most human cancers are characterized by genomic instability. Changes associated with such may result in altered expression of numerous genes. The sequence information available in the public databases can be used to identify transcripts differentially expressed in cancers. Determining cancer-related genes that are com...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000087513
更新日期:2006-01-01 00:00:00
abstract::We performed a quantitative trait locus (QTL) analysis to map QTLs controlling shank length, body weight, and carcass weight in a resource family of 245 F(2) birds developed from a cross of the large-sized, native, Japanese cockfighting breed, Oh-Shamo (Japanese Large Game), and the White Leghorn breed of chickens. In...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000103190
更新日期:2007-01-01 00:00:00
abstract::In Europe, 2 different diploid chromosome numbers, 2n = 54 and 2n = 56, have been described in the lesser horseshoe bat (Rhinolophushipposideros). The eastern form with 2n = 56 extends from the Czech Republic to Greece. To date, specimens with 54 chromosomes have been reported only from Spain and Germany. This study e...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000447111
更新日期:2016-01-01 00:00:00