Abstract:
:Fragile sites are intriguing cytogenetic phenomena that have been extensively investigated in human and laboratory animal chromosomes over the past 40 years, but domestic animal species have been studied sporadically. Interest in the field has been recently renewed as increasing numbers of fragile site regions are cloned and characterized at the molecular level. Despite much effort, mechanisms by which specific DNA sequence confers fragility to a chromosome region remain unclear. Recent advancements in sequencing and mapping of domestic animal genomes provide tools for molecular characterization of fragile sites in animal chromosomes. Future comparative efforts may contribute insight into both the mechanisms that underlie chromosome fragility, and forces that drive rearrangements observed throughout evolution, and somatic changes that can result in disease or impair fertility.
journal_name
Cytogenet Genome Resjournal_title
Cytogenetic and genome researchauthors
Riggs PK,Rønne Mdoi
10.1159/000245910subject
Has Abstractpub_date
2009-01-01 00:00:00pages
97-109issue
1-2eissn
1424-8581issn
1424-859Xpii
000245910journal_volume
126pub_type
杂志文章abstract::Plant meiosis studies have enjoyed a fantastic boom in recent years with the use of Arabidopsis thaliana as a model not only for molecular genetics and genomics but also for cytogenetics. In this article we describe a new protocol for immunolabelling meiotic proteins that allows the detection of a large range of prote...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000314096
更新日期:2010-07-01 00:00:00
abstract::Black porgy, Acanthopagrus schlegeli Bleeker, is a marine protandrous hermaphrodite fish. A Dmrt1 cDNA was cloned and characterized and in order to study the process of sex change in this species, mRNA transcripts of Dmrt1 were monitored. Dmrt1 was specifically transcribed in testis and seminal vesicle in 2-year-old b...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000074354
更新日期:2003-01-01 00:00:00
abstract::A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000381568
更新日期:2015-01-01 00:00:00
abstract::Peroxisomes are cell organelles that perform multiple functions in the metabolism of lipids and of reactive oxygen species. They are present in most eukaryotic cells. However, they are believed to be absent in spermatozoa and they have never been described in male germ cells. We have used the immortalized germ cell li...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000076825
更新日期:2003-01-01 00:00:00
abstract::Oligonucleotide array comparative genomic hybridization (aCGH) was applied on fifteen gastric cancer (GCA) samples to reveal information of DNA copy number changes at an exon-level resolution. Twelve of the samples represented the intestinal (IGCA) and three the diffuse (DGCA) type of GCA. The samples had previously b...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000109617
更新日期:2007-01-01 00:00:00
abstract::2q37.3 deletion syndrome belongs to the chromosomal 2q37 deletion spectrum which clinically resembles Albright hereditary osteodystrophy (AHO) syndrome. It is is mainly characterized by short stature, obesity, round face, brachydactyly type E, intellectual disability, behavioral problems, and variable intellectual def...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000431389
更新日期:2015-01-01 00:00:00
abstract::Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000358847
更新日期:2014-01-01 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::The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rear...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000245920
更新日期:2009-01-01 00:00:00
abstract::Precise breakpoint definition of chromosomal rearrangements using conventional banding techniques often fails, especially when more than two breakpoints are involved. The classic banding procedure results in a pattern of alternating light and dark bands. Hence, in banded chromosomes a specific chromosomal band is rath...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000077521
更新日期:2004-01-01 00:00:00
abstract::Human papillomaviruses (HPV) are responsible for the development of almost all cervical cancers. HPV is also found in 85% of anal cancer and in 50% of penile, vulvar, and vaginal cancers, and they are increasingly found in a subset of head and neck cancers, i.e., oropharyngeal squamous cell carcinomas (OPSCC). The mod...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000458166
更新日期:2016-01-01 00:00:00
abstract::A single female with 206 chromosomes and another 26 females with 156 chromosomes identified as Prussian carp, Carassius gibelio, and 5 individuals with 100 chromosomes identified as crucian carp, C. carassius, were sampled during field survey in one locality in the upper Elbe River. To identify the origin of females w...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000350689
更新日期:2013-01-01 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::Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) b...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000501381
更新日期:2019-01-01 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::The genus Hypostomus has a broad geographic distribution in Brazilian rivers and comprises armored catfishes with a very complicated taxonomy due to the absence of morphological autapomorphies. The existence of nearly 10 allopatric populations with different karyotypes suggests that Hypostomusancistroides represents a...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000492959
更新日期:2018-09-28 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::In an attempt to analyze the organization of repetitive DNAs in the amphibian genome, 7 microsatellite motifs and a 5S rDNA sequence were synthesized and mapped in the karyotypes of 5 Amolops species. The results revealed nonrandom distribution of the microsatellite repeats, usually in the heterochromatic regions, as ...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000499416
更新日期:2019-01-01 00:00:00
abstract::The suborder Serpentes is divided into 2 infraorders, Scolecophidia and Alethinophidia, which diverged at an early stage of snake diversification. In this study, we examined karyotypes of 4 scolecophidian species (Letheobia simonii, Xerotyphlops vermicularis, Indotyphlops braminus, and Myriopholis macrorhyncha) and pe...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000496554
更新日期:2019-01-01 00:00:00
abstract::PCR protocols incorporating fluorescently labeled multiplexed primer combinations were developed to produce a linkage map for bison. Three hundred fifty eight microsatellite loci spanning all 29 autosomes were genotyped via 83 PCR multiplexes and nine individual amplifications. A total of 292 markers were integrated i...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000075726
更新日期:2003-01-01 00:00:00
abstract::Physical mapping of 5S rDNA in 2 species of knifefishes, Gymnotuspantanal and G. paraguensis (Gymnotiformes), was performed using fluorescence in situ hybridization with a 5S rDNA probe. The 5S rDNA PCR product from the genomes of both species was also sequenced and aligned to determine non-transcribed spacer sequence...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000328998
更新日期:2011-01-01 00:00:00
abstract::Genome projects allow us to sample copies of a retrotransposon sequence family residing in a host genome. The variation in DNA sequence between these individual copies will reflect the evolutionary process that has spread the sequences through the genome. Here I review quantitatively the expected diversity of elements...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000084970
更新日期:2005-01-01 00:00:00
abstract::The discovery of complex structural variations that exist within individual genomes has prompted a need to visualize chromosomes at a higher resolution than previously possible. To address this concern, we established a robust, high-resolution fluorescence in situ hybridization (FISH) method that utilizes probes deriv...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000322717
更新日期:2011-01-01 00:00:00
abstract::During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome banding techniques based on FISH have been developed for the human and for the murine genome. This review focuses on such FISH-banding techniques, which were recent...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000094207
更新日期:2006-01-01 00:00:00
abstract::Mouse distal chromosome 2 was one of the earliest described imprinting regions. Maternal and paternal inheritance of the region is associated with opposite phenotypes affecting growth, development and behaviour. Mis-expression of proteins determined by the imprinted Gnas locus can account for the phenotypes. The impri...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000090832
更新日期:2006-01-01 00:00:00
abstract::DNA methylation is an essential epigenetic feature for the regulation and maintenance of heterochromatin. Satellite DNA is a repetitive sequence component that often occurs in large arrays in heterochromatin of subtelomeric, intercalary and centromeric regions. Knowledge about the methylation status of satellite DNA i...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000363485
更新日期:2014-01-01 00:00:00
abstract::Chloroplasts and mitochondria are semi-autonomous organelles and have their own genomes (cytoplasmic genomes). Physical radiations (e.g., γ-rays) have been widely used in artificial mutation induction for plant germplasm enhancement and for breeding new cultivars. However, little is known at the genomic level about wh...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000506033
更新日期:2020-01-01 00:00:00
abstract::There is incredible morphological and behavioral diversity among the hundreds of breeds of the domestic dog, CANIS FAMILIARIS. Many of these breeds have come into existence within the last few hundred years. While there are obvious phenotypic differences among breeds, there is marked interbreed genetic homogeneity. Th...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章,评审
doi:10.1159/000075756
更新日期:2003-01-01 00:00:00
abstract::The human brain is distinguished by its remarkable size, high energy consumption, and cognitive abilities compared to all other mammals and non-human primates. However, little is known about what has accelerated brain evolution in the human lineage. One possible explanation is that the appearance of advanced communica...
journal_title:Cytogenetic and genome research
pub_type: 杂志文章
doi:10.1159/000335465
更新日期:2012-01-01 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