Mechanisms of nondisjunction in human spermatogenesis.

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

authors： Brookfield JF

更新日期：2005-01-01 00:00:00

abstract：:Nonmosaic trisomy involving 19p13.3p13.2 is a very uncommon abnormality. At present, only 12 cases with this genetic condition have been reported in the literature. However, the size of the trisomic fragment is heterogeneous and thus, the clinical spectrum is variable. Herein, we report the clinical and cytogenetic ch...

journal_title：Cytogenetic and genome research

authors： Martínez Anaya D,Fernández Hernández L,González Del Angel A,Alcántara Ortigoza MA,Ulloa Avilés V,Pérez Vera P

更新日期：2020-01-01 00:00:00

abstract：:For normal transition through meiosis, chromosomes rely on pairing with their homologues. Chromosomes which fail to pair, univalents, behave irregularly and may undergo various types of breakage across their centromeres. Here, we analyzed the meiotic behavior of misdivision products themselves: isochromosomes and telo...

journal_title：Cytogenetic and genome research

authors： Kopecky D,Lukaszewski AJ

更新日期：2019-01-01 00:00:00

abstract：:Spontaneous meiotic mutations of winter rye Secale cereale L. (2n = 14) were revealed in inbred F2 progenies, which were obtained by self-pollination of F1 hybrids resulting from crosses of individual plants of cultivar Vyatka or weedy rye with plants of self-fertile inbred lines. The mutations cause partial or comple...

journal_title：Cytogenetic and genome research

authors： Sosnikhina SP,Mikhailova EI,Tikholiz OA,Priyatkina SN,Smirnov VG,Dadashev SY,Kolomiets OL,Bogdanov YF

更新日期：2005-01-01 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

authors： Ashley T,Westphal C,Plug-de Maggio A,de Rooij DG

更新日期：2004-01-01 00:00:00

abstract：:Acrylamide (AA) is an important industrial chemical used mainly in the production of polymers. It can be absorbed through the skin. AA was shown to be a germ cell clastogen that entails a genetic risk for exposed workers. The genetic risk calculation was based on mouse heritable translocation test data obtained after ...

journal_title：Cytogenetic and genome research

authors： Adler ID,Gonda H,Hrabé de Angelis M,Jentsch I,Otten IS,Speicher MR

更新日期：2004-01-01 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：:We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with ep...

journal_title：Cytogenetic and genome research

authors： Verrotti A,Palka C,Prezioso G,Alfonsi M,Calabrese G,Palka G,Chiarelli F

更新日期：2015-01-01 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

authors： He CL,Du JL,Wu GC,Lee YH,Sun LT,Chang CF

更新日期：2003-01-01 00:00:00

abstract：:Y chromosomal azoospermia factor (AZF) regions AZFa, AZFb and AZFc represent hotspots for copy number variations (CNVs) in the human genome; yet the number of reports of AZFa-linked duplications remains limited. Nonallelic homologous recombination has been proposed as the underlying mechanism of CNVs in AZF regions. I...

journal_title：Cytogenetic and genome research

authors： Katsumi M,Ishikawa H,Tanaka Y,Saito K,Kobori Y,Okada H,Saito H,Nakabayashi K,Matsubara Y,Ogata T,Fukami M,Miyado M

更新日期：2014-01-01 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：: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 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：:Pesticides are some of the most frequently released toxic chemicals into the environment. Exposure to them has been associated with reproductive dysfunction, but the knowledge of the genotoxic risks of these substances is still limited. In vitro and in vivo, many pesticides are shown to induce aneuploidy. Analysis of ...

journal_title：Cytogenetic and genome research

authors： Härkönen K

更新日期：2005-01-01 00:00:00

abstract：:Chromosomal locations and amounts of 5-methylcytosine-rich chromosome regions were detected in the karyotypes of 13 bird species by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 7 orders and 10 families of modern (Neognathae) and primitive (Palaeognathae) birds ...

journal_title：Cytogenetic and genome research

authors： Schmid M,Steinlein C

更新日期：2017-01-01 00:00:00

abstract：:Fusions of the Runt-related transcription factor 1 (RUNX1) with different partner genes have been associated with various hematological disorders. Interestingly, the C-terminally truncated form of RUNX1 and RUNX1 fusion proteins are similarly considered important contributors to leukemogenesis. Here, we describe a 59-...

journal_title：Cytogenetic and genome research

authors： Abe A,Yamamoto Y,Katsumi A,Yamamoto H,Okamoto A,Inaguma Y,Iriyama C,Tokuda M,Okamoto M,Emi N,Tomita A

更新日期：2020-01-01 00:00:00

abstract：:Twelve weeks after repeated spontaneous mating between a Bentheimer Landschaf ram and a West African dwarf doe was observed, the doe aborted a dead fetus. The aim of this study was to verify the parentage and the species of the supposed parents and the hybrid status of the fetus, using cytogenetic and molecular geneti...

journal_title：Cytogenetic and genome research

authors： Lühken G,Wagner HW,Seichter D,Hecht W,Erhardt G

更新日期：2009-01-01 00:00:00

abstract：:Radiation-induced chromosome damage can be measured in interphase using the Premature Chromosome Condensation (PCC) technique. With the introduction of a new PCC technique using the potent phosphatase inhibitor calyculin-A, chromosomes can be condensed within five minutes, and it is now possible to examine the early d...

journal_title：Cytogenetic and genome research

authors： Kawata T,Ito H,Uno T,Saito M,Yamamoto S,Furusawa Y,Durante M,George K,Wu H,Cucinotta FA

更新日期：2004-01-01 00:00:00

abstract：:The epigenome is thought to mediate between genes and the environment, particularly in response to adverse life experiences. Similar to other psychiatric diseases, the suicide liability of an individual appears to be influenced by many genetic factors of small effect size as well as by environmental stressors. To iden...

journal_title：Cytogenetic and genome research

authors： Schneider E,El Hajj N,Müller F,Navarro B,Haaf T

更新日期：2015-01-01 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：: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

authors： Greer KA,Cargill EJ,Cox ML,Clark LA,Tsai KL,Credille KM,Dunstan RW,Venta PJ,Murphy KE

更新日期：2003-01-01 00:00:00

abstract：:Rubus yellow net virus (RYNV) infects Rubus spp., causing a severe decline when present in mixed infections with other viruses. RYNV belongs to the family Caulimoviridae, also known as plant pararetroviruses, which can exist as episomal or integrated elements (endogenous). Most of integrated pararetroviruses are nonin...

journal_title：Cytogenetic and genome research

authors： Diaz-Lara A,Mosier NJ,Stevens K,Keller KE,Martin RR

更新日期：2020-01-01 00:00:00

abstract：:A 5-year-old river buffalo cow underwent cytogenetic investigation since it had only one male offspring, apparently with normal body constitution, which died one month after birth. The female carrier had normal body conformation and internal sex adducts, as revealed by rectal palpation performed by a specialist veteri...

journal_title：Cytogenetic and genome research

authors： Di Meo GP,Perucatti A,Genualdo V,Iannuzzi A,Sarubbi F,Caputi-Jambrenghi A,Incarnato D,Peretti V,Vonghia G,Iannuzzi L

更新日期：2011-01-01 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

authors： Liu Y,Song M,Luo W,Xia Y,Zeng X

更新日期：2019-01-01 00:00:00

abstract：:The non-random positioning of chromosome territories (CTs) in lymphocyte cell nuclei has raised the question whether systematic chromosome-chromosome associations exist which have significant influence on interchange rates. In such a case the spatial proximity of certain CTs or even of clusters of CTs is expected to i...

journal_title：Cytogenetic and genome research

authors： Kreth G,Finsterle J,Cremer C

更新日期：2004-01-01 00:00:00

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 clo...

journal_title：Cytogenetic and genome research

authors： Riggs PK,Rønne M

更新日期：2009-01-01 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：:Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency wit...

journal_title：Cytogenetic and genome research

authors： Santoro SL,Hashimoto S,McKinney A,Mihalic Mosher T,Pyatt R,Reshmi SC,Astbury C,Hickey SE

更新日期：2017-01-01 00:00:00

abstract：:Deletions in the short arm of chromosome 12 are the rarest subtelomeric imbalances. Less than 20 patients have been reported to date, and their microdeletions were identified either by FISH or array-CGH without SNP data. Here, we report a patient with a 12p13.32pter mosaic deletion detected by chromosome microarray an...

journal_title：Cytogenetic and genome research

authors： Faria RS,de Oliveira CP,da Costa MM,da S Rosa MT,Córdoba MS,Pic-Taylor A,Ferrari I,de Oliveira SF,Mazzeu JF

更新日期：2016-01-01 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