abstract：:Microdeletions of 3q29 have previously been reported, but the postulated reciprocal microduplication has only recently been observed. Here, cases from four families, two ascertained in Toronto (Canada) and one each from Edinburgh (UK) and Leiden (Netherlands), carrying microduplications of 3q29 are presented. These fa...

journal_title：Cytogenetic and genome research

authors： Goobie S,Knijnenburg J,Fitzpatrick D,Sharkey FH,Lionel AC,Marshall CR,Azam T,Shago M,Chong K,Mendoza-Londono R,den Hollander NS,Ruivenkamp C,Maher E,Tanke HJ,Szuhai K,Wintle RF,Scherer SW

更新日期：2008-01-01 00:00:00

abstract：:Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a ...

journal_title：Cytogenetic and genome research

authors： Nakajima T,Kaur G,Mehra N,Kimura A

更新日期：2008-01-01 00:00:00

abstract：:Recent large-scale genomic studies within human populations have identified numerous genomic regions as copy number variant (CNV). As these CNV regions often overlap coding regions of the genome, large lists of potentially copy number polymorphic genes have been produced that are candidates for disease association. Mo...

journal_title：Cytogenetic and genome research

authors： Bailey JA,Kidd JM,Eichler EE

更新日期：2008-01-01 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

authors： Aten E,White SJ,Kalf ME,Vossen RH,Thygesen HH,Ruivenkamp CA,Kriek M,Breuning MH,den Dunnen JT

更新日期：2008-01-01 00:00:00

abstract：:In order to determine synteny conservation of the avian Z chromosome, a chicken (Gallus gallus, GGA) Z chromosome painting probe was hybridized to the chromosomes of 14 bird species belonging to 11 different families. The GGAZ painted the Z chromosomes in all species analyzed, suggesting strong conservation of its gen...

journal_title：Cytogenetic and genome research

authors： Nanda I,Schlegelmilch K,Haaf T,Schartl M,Schmid M

更新日期：2008-01-01 00:00:00

abstract：:Fanconi anemia (FA) cells are generally hypersensitive to DNA cross-linking agents, implying that mutations in the different FANC genes cause a similar DNA repair defect(s). By using a customized cDNA microarray chip for DNA repair- and cell cycle-associated genes, we identified three genes, cathepsin B (CTSB), glutar...

journal_title：Cytogenetic and genome research

authors： Galetzka D,Weis E,Rittner G,Schindler D,Haaf T

更新日期：2008-01-01 00:00:00

abstract：:In 1957/58 the British Government conducted a series of nuclear tests in the mid-Pacific codenamed Operation Grapple, which involved several naval vessels from Britain and New Zealand. Two New Zealand frigates with 551 personnel onboard were stationed at various distances between 20 and 150 nautical miles from ground ...

journal_title：Cytogenetic and genome research

authors： Wahab MA,Nickless EM,Najar-M'kacher R,Parmentier C,Podd JV,Rowland RE

更新日期：2008-01-01 00:00:00

abstract：:The economic and ecological importance of forest trees, as well as their unique biological features, has recently raised the level of interest in studies on their genomes, including sequencing of the entire poplar genome. However, cytogenetic studies have not moved in parallel with developments in genomics. This is es...

journal_title：Cytogenetic and genome research

authors： Ribeiro T,Barão A,Viegas W,Morais-Cecíli L

更新日期：2008-01-01 00:00:00

abstract：:Osteosarcoma (OS) is characterized by an unstable karyotype which typically has a heterogeneous pattern of complex chromosomal abnormalities. High-resolution array comparative genomic hybridization (CGH) in combination with interphase fluorescence in situ hybridization (FISH) analyses provides a complete description o...

journal_title：Cytogenetic and genome research

authors： Selvarajah S,Yoshimoto M,Ludkovski O,Park PC,Bayani J,Thorner P,Maire G,Squire JA,Zielenska M

更新日期：2008-01-01 00:00:00

abstract：:Three activities hallmark meiotic cell division: homologous chromosome pairing, synapsis, and recombination. Recombination and synapsis are well-studied but homologous pairing still holds many black boxes. In the past several years, many studies in plants have yielded insights into the mechanisms of chromosome pairing...

journal_title：Cytogenetic and genome research

authors： Bozza CG,Pawlowski WP

更新日期：2008-01-01 00:00:00

abstract：:We analyzed repeat sequences composition in the genome of cucumber inbred line 9930 using whole-genome shotgun reads. The analysis showed that satellite DNA sequences are the most dominant components in the cucumber genome. The distribution pattern of several tandem repeat sequences (Type I/II, Type III and Type IV) o...

journal_title：Cytogenetic and genome research

authors： Han YH,Zhang ZH,Liu JH,Lu JY,Huang SW,Jin WW

更新日期：2008-01-01 00:00:00

abstract：:In addition to their location at terminal positions, telomeric-like repeats are also present at internal sites of the chromosomes (intrachromosomal or interstitial telomeric sequences, ITSs). According to their sequence organization and genomic location, two different kinds of ITSs can be identified: (1) heterochromat...

journal_title：Cytogenetic and genome research

authors： Ruiz-Herrera A,Nergadze SG,Santagostino M,Giulotto E

更新日期：2008-01-01 00:00:00

abstract：:Telomeres are the nucleoprotein structures that cap the ends of linear chromosomes. The length of telomeric DNA is an important determinant of function; with short telomeres triggering either replicative senescence or, in the absence of a functional DNA damage response, telomere fusion. Telomere fusion can trigger cyc...

journal_title：Cytogenetic and genome research

authors： Baird DM

更新日期：2008-01-01 00:00:00

abstract：:Indefinite proliferation of eukaryotic cells depends on telomerase that counteracts the depletion of DNA from chromosome termini due to the end replication problem. The requirement for telomerase can, under certain conditions, be circumvented by employing homologous recombination-based mechanisms for telomere maintena...

journal_title：Cytogenetic and genome research

authors： Akimcheva S,Zellinger B,Riha K

更新日期：2008-01-01 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

authors： Soderberg C,Perez DS,Ukpo OC,Liang X,O'Reilly AG,Moore EJ,Kademani D,Smith DI

更新日期：2008-01-01 00:00:00

abstract：:Here, a new satellite-DNA family is isolated and characterized from wedge sole, Dicologoglossa cuneata Moreau, 1881 (Pleuronectiformes), a fish having a small genome. This satellite-DNA family of sequences was isolated by conventional cloning after digestion of genomic DNA with the DraI restriction enzyme. Repeat unit...

journal_title：Cytogenetic and genome research

authors： de la Herrán R,Robles F,Navas JI,López-Flores I,Herrera M,Hachero I,Garrido-Ramos MA,Ruiz Rejón C,Ruiz Rejón M

更新日期：2008-01-01 00:00:00

abstract：:Homologous chromosome pairing and recombination are essential components of meiosis and sexual reproduction. The reshuffling of genetic material through breakage and reunion of chromatids ensure proper segregation of homologous chromosomes in reduction division and genetic diversity in the progeny. The advent of somat...

journal_title：Cytogenetic and genome research

authors： Hart EJ,Pinton A,Powell A,Wall R,King WA

更新日期：2008-01-01 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

authors： Iannuzzi A,Di Meo GP,Caputi Jambrenghi A,Vonghia G,Iannuzzi L,Rangel-Figueiredo T

更新日期：2008-01-01 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

authors： Vauhkonen H,Vauhkonen M,Sipponen P,Knuutila S

更新日期：2007-01-01 00:00:00

abstract：:An integrated genetic linkage map was developed for the turkey (Meleagris gallopavo) that combines the genetic markers from the three previous mapping efforts. The UMN integrated map includes 613 loci arranged into 41 linkage groups. An additional 105 markers are tentatively placed within linkage groups based on two-p...

journal_title：Cytogenetic and genome research

authors： Reed KM,Chaves LD,Mendoza KM

更新日期：2007-01-01 00:00:00

abstract：:Telomerase is expressed in more than 90% of human cancers. Telomere maintenance by this enzyme is believed to safeguard genomic integrity in neoplastic cells. Nevertheless, many telomerase-expressing tumours exhibit chromosomal instability triggered by short, dysfunctional telomeres, implying that active telomerase is...

journal_title：Cytogenetic and genome research

authors： Calcagnile O,Gisselsson D

更新日期：2007-01-01 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

authors： Karenko L,Hahtola S,Ranki A

更新日期：2007-01-01 00:00:00

abstract：:The ChickRH6 radiation hybrid panel has been used to construct consensus chromosome radiation hybrid (RH) maps of the chicken genome. Markers genotyped were either from throughout the genome or targeted to specific chromosomes and a large proportion (one third) of data was the result of collaborative efforts. Altogeth...

journal_title：Cytogenetic and genome research

authors： Morisson M,Denis M,Milan D,Klopp C,Leroux S,Bardes S,Pitel F,Vignoles F,Gérus M,Fillon V,Douaud M,Vignal A

更新日期：2007-01-01 00:00:00

abstract：:Birds have a ubiquitous, female heterogametic, ZW sex chromosome system. The current model suggests that the Z chromosome and its degraded partner, the W chromosome, evolved from an ancestral pair of autosomes independently from the mammalian XY male heteromorphic sex chromosomes--which are similar in size, but not ge...

journal_title：Cytogenetic and genome research

authors： Stiglec R,Ezaz T,Graves JA

更新日期：2007-01-01 00:00:00

abstract：:We review our progress using genomics approaches to examine key antiviral defenses of the White Pekin mallard duck, Anas platyrhynchos. Our interest stems from the fact that ducks are the natural host of avian influenza, and are an important animal model for hepatitis B research. First, we have conducted an expressed ...

journal_title：Cytogenetic and genome research

authors： MacDonald MR,Veniamin SM,Guo X,Xia J,Moon DA,Magor KE

更新日期：2007-01-01 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

authors： Tsudzuki M,Onitsuka S,Akiyama R,Iwamizu M,Goto N,Nishibori M,Takahashi H,Ishikawa A

更新日期：2007-01-01 00:00:00

abstract：:The Mx gene was originally found in laboratory mice in an infection experiment using influenza virus (Lindermann, 1962). Almost all of the mouse strains in that experiment died from the infection, and only the A2G strain had resistance to the virus. This resistant character was shown to be inherited as a single autoso...

journal_title：Cytogenetic and genome research

authors： Watanabe T

更新日期：2007-01-01 00:00:00

abstract：:The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in ho...

journal_title：Cytogenetic and genome research

authors： Hansen M,Knorr C,Hall AJ,Broad TE,Brenig B

更新日期：2007-01-01 00:00:00

abstract：:The identification of individual dog chromosomes is problematic because the 38 pairs of autosomes are small and acrocentric. Here we describe the design and application of a FISH tool that enables definitive identification of each dog autosome in a normal karyotype, without relying on subjective interpretation of DAPI...

journal_title：Cytogenetic and genome research

authors： Courtay-Cahen C,Griffiths LA,Hudson R,Starkey M

更新日期：2007-01-01 00:00:00

abstract：:The Deleted in AZoospermia Like (DAZL) gene is a member of the DAZ family and encodes an RNA-binding protein that is expressed in prenatal and postnatal germ cells of males and females. In the human, there are five highly-related members in the DAZ family, four (DAZ1-4) on the Y chromosome and one (DAZL) on an autosom...

journal_title：Cytogenetic and genome research

authors： Liu WS,Wang A,Uno Y,Galitz D,Beattie CW,Ponce de León FA

更新日期：2007-01-01 00:00:00

abstract：:Chromosomes in hymenopteran insects cannot currently be analysed in adult individuals. The only available cytogenetic techniques need to be performed in larvae. Here we develop and implement a SCAR (Sequence Characterized Amplified Region) marker, associated with B chromosomes in the bee Partamona helleri, which has p...

journal_title：Cytogenetic and genome research

authors： Tosta VC,Tavares MG,Fernandes-Salomão TM,Barros EG,Campos LA,Camacho JP

更新日期：2007-01-01 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

authors： Nestor AL,Hollopeter SL,Matsui SI,Allison D

更新日期：2007-01-01 00:00:00

abstract：:It is widely accepted that the H2AX histone in its phosphorylated form (gamma-H2AX) is related to the repair of DNA double-strand breaks (DSBs). In several organisms, gamma-H2AX presence has been demonstrated in meiotic processes such as recombination and sex chromosome inactivation during prophase I (from leptotene t...

journal_title：Cytogenetic and genome research

authors： Cabrero J,Teruel M,Carmona FD,Camacho JP

更新日期：2007-01-01 00:00:00

abstract：:The Hodgkin cell line U-HO1 was established from a malignant pleural effusion of a 23-year-old male patient during the end stage of refractory nodular sclerosing classical Hodgkin lymphoma (cHL). Since its establishment in 2005, U-HO1 has maintained stable characteristics in vitro and has a doubling time of about 4 da...

journal_title：Cytogenetic and genome research

authors： Mader A,Bruderlein S,Wegener S,Melzner I,Popov S,Muller-Hermelink HK,Barth TF,Viardot A,Moller P

更新日期：2007-01-01 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

authors： Kopecky D,Allen DC,Duchoslav M,Dolezel J,Lukaszewski AJ

更新日期：2007-01-01 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

authors： Liehr T,Starke H,Heller A,Kosyakova N,Mrasek K,Gross M,Karst C,Steinhaeuser U,Hunstig F,Fickelscher I,Kuechler A,Trifonov V,Romanenko SA,Weise A

更新日期：2006-01-01 00:00:00

abstract：:Early, rapid and reliable diagnosis is of first priority in prenatal medicine. The combination of specific sonographic markers (e.g. nuchal translucency) and biochemical parameters in maternal serum (e.g. free beta-human chorionic gonadotropin, pregnancy-associated plasma protein A), has already dramatically improved ...

journal_title：Cytogenetic and genome research

authors： Stumm M,Wegner RD,Bloechle M,Eckel H

更新日期：2006-01-01 00:00:00

abstract：:The article reviews the existing methods of multicolor FISH on nuclear targets, first of all, interphase chromosomes. FISH proper and image acquisition are considered as two related components of a single process. We discuss (1) M-FISH (combinatorial labeling + deconvolution + wide-field microscopy); (2) multicolor la...

journal_title：Cytogenetic and genome research

authors： Walter J,Joffe B,Bolzer A,Albiez H,Benedetti PA,Müller S,Speicher MR,Cremer T,Cremer M,Solovei I

更新日期：2006-01-01 00:00:00

abstract：:In the past few years high throughput methods for assessment of DNA copy number alterations have witnessed rapid progress. Both 'in house' developed BAC, cDNA, oligonucleotide and commercial arrays are now available and widely applied in the study of the human genome, particularly in the context of disease. Cancer cel...

journal_title：Cytogenetic and genome research

authors： Michels E,Vandesompele J,Hoebeeck J,Menten B,De Preter K,Laureys G,Van Roy N,Speleman F

更新日期：2006-01-01 00:00:00

abstract：:Scapinin has been found to bind to cytoplasmic actin and is also a putative regulatory subunit of protein phosphatase-1 (PP1). It is found attached to the nuclear matrix-intermediate filament (NM-IF) and is down-regulated by differentiation of tumor cells. We have analyzed the genomic structure and tissue-specific exp...

journal_title：Cytogenetic and genome research

authors： Worch S,Fiedler E,Hansmann I,Schlote D

更新日期：2006-01-01 00:00:00