Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia.

abstract：:Variations of DNA sequences in the human genome range from large, microscopically visible chromosome anomalies to single nucleotide changes. Submicroscopic genomic copy number variations, i.e. chromosomal imbalances which are undetectable by conventional cytogenetic analysis, play an intriguing clinical role. In this ...

journal_title：Cytogenetic and genome research

authors： Riccardi F,Rivolta GF,Uliana V,Grati FR,La Starza R,Marcato L,Di Perna C,Quintavalle G,Garavelli L,Rosato S,Sammarelli G,Neri TM,Tagliaferri A,Martorana D

更新日期：2015-01-01 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：:Retroelements (REs) actively reshape genomes through genomic rearrangements, creation of new genes and modulation of the regulatory machinery of existing genes, thus introducing genomic novelties which potentially may be subject to natural selection. Thousands of RE integrations, presumably distinguishing the human an...

journal_title：Cytogenetic and genome research

authors： Buzdin A,Vinogradova T,Lebedev Y,Sverdlov E

更新日期：2005-01-01 00:00:00

abstract：:The osprey (Pandion haliaetus) has a diploid number of 74 chromosomes, consisting of a large number of medium-sized macrochromosomes and relatively few microchromosomes; this differs greatly from the typical avian karyotype. Chromosome painting with chicken DNA probes revealed that the karyotype of P. haliaetus differ...

journal_title：Cytogenetic and genome research

authors： Nishida C,Ishishita S,Yamada K,Griffin DK,Matsuda Y

更新日期：2014-01-01 00:00:00

abstract：:In order to understand the mechanisms of formation of chromosomal aberrations, studies performed on human syndromes with genomic instability can be fruitful. In this report, the results from studies in our laboratory on the importance of the transcription-coupled repair (TCR) pathway on the induction of chromosomal da...

journal_title：Cytogenetic and genome research

authors： Palitti F

更新日期：2004-01-01 00:00:00

abstract：:Chromosome homologies in reptiles have been investigated extensively by gene mapping and chromosome painting. Relative chromosome size can be estimated roughly from conventional karyotypes, but chromosome GC content cannot be evaluated by any of these approaches. However, GC content can be obtained by whole-genome seq...

journal_title：Cytogenetic and genome research

authors： Kasai F,O'Brien PCM,Ferguson-Smith MA

更新日期：2019-01-01 00:00:00

abstract：:The sense of taste is a chemosensory system responsible for basic food appraisal. Humans distinguish between five primary tastes: bitter, sweet, sour, salty and umami. The molecular events in the perception of bitter taste are believed to start with the binding of specific water-soluble molecules to G-protein-coupled ...

journal_title：Cytogenetic and genome research

authors： Conte C,Ebeling M,Marcuz A,Nef P,Andres-Barquin PJ

更新日期：2002-01-01 00:00:00

abstract：:Coamplification of multiple segments of chromosome 2, including an MYCN-bearing segment, was examined in 2 cancer cell lines, NCI-H69 (lung cancer) and IMR-32 (neuroblastoma). High-resolution array-CGH analysis revealed 13 and 6 highly amplified segments located at different sites in chromosome 2 in NCI-H69 and IMR-32...

journal_title：Cytogenetic and genome research

authors： Kitada K,Aida S,Aikawa S

更新日期：2012-01-01 00:00:00

abstract：:Fat accumulation is a polygenic trait which has a significant impact on human health and animal production. Obesity is also an increasingly serious problem in dog breeding. The FTO and INSIG2 are considered as candidate genes associated with predisposition for human obesity. In this report we present a comparative gen...

journal_title：Cytogenetic and genome research

authors： Grzes M,Szczerbal I,Fijak-Nowak H,Szydlowski M,Switonski M

更新日期：2011-01-01 00:00:00

abstract：:The 'centromere-from-telomere' hypothesis proposed by Villasante et al. [2007a] aims to explain the evolutionary origin of the eukaryotic chromosome. The hypothesis is based on the notion that the process of eukaryogenesis was initiated by adaptive responses of the symbiont eubacterium and its archaeal host to their n...

journal_title：Cytogenetic and genome research

authors： Slijepcevic P

更新日期：2016-01-01 00:00:00

abstract：:Uniparental chromosome elimination occurs in several interspecific hybrids of plants. We studied the mechanism underlying selective elimination of the paternal chromosomes during the development of Hordeum vulgare x H. bulbosum hybrid embryos that is restricted to an early stage of development. In almost all embryos m...

journal_title：Cytogenetic and genome research

authors： Gernand D,Rutten T,Pickering R,Houben A

更新日期：2006-01-01 00:00:00

abstract：:The DDX4/VASA gene plays an important role in germ cell development in animals. We cloned and characterized a marsupial DDX4/VASA homolog (TvDDX4, 2,769 bps) from the possum and examined its expression in adult tissues at mRNA and protein levels. The isolated cDNA had a deduced 704 amino acid residues with significant...

journal_title：Cytogenetic and genome research

authors： Cui S,Nanayakkara K,Selwood L

更新日期：2009-01-01 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

authors： Karkera JD,Izraeli S,Roessler E,Dutra A,Kirsch I,Muenke M

更新日期：2002-01-01 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

authors： Kono T

更新日期：2006-01-01 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

authors： Barbero JL

更新日期：2011-01-01 00:00:00

abstract：:In animals, supernumerary chromosomes and their evolution have mostly been studied in sexual reproducing species. In the present study, for the first time, the natural distribution and stability of supernumerary microchromosomes were investigated in the unisexual fish species Poecilia formosa. Natural habitats through...

journal_title：Cytogenetic and genome research

authors： Lamatsch DK,Nanda I,Schlupp I,Epplen JT,Schmid M,Schartl M

更新日期：2004-01-01 00:00:00

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

authors： Bustamante FO,Aliyeva-Schnorr L,Fuchs J,Beier S,Houben A

更新日期：2017-01-01 00:00:00

abstract：:The molecular structure of the exceptional telomeres of six plant species belonging to the order Asparagales and two species of the order Liliales was analyzed using Southern blot and fluorescence in situ hybridization. Three different situations were found, namely: i) In the two Liliales species, Tulipa australis (Li...

journal_title：Cytogenetic and genome research

authors： de la Herrán R,Cuñado N,Navajas-Pérez R,Santos JL,Ruiz Rejón C,Garrido-Ramos MA,Ruiz Rejón M

更新日期：2005-01-01 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：:In rye each B chromosome (B) represents 5.5% of the diploid A genome. Rye Bs have several nuclear to whole plant effects although they seem to bear no genes except for the ones that lead to their maintenance within a population. In this context, and considering that rye Bs are enriched in repetitive non-coding regions...

journal_title：Cytogenetic and genome research

authors： Delgado M,Caperta A,Ribeiro T,Viegas W,Jones RN,Morais-Cecílio L

更新日期：2004-01-01 00:00:00

abstract：:We have tested the influence of recombinantly-elongated chromosome arms on nuclear divisions in barley and confirmed a rule according to which half the length of the average spindle axis defines the upper tolerance limit for chromosome arm length. A slightly longer chromosome arm caused incomplete separation of sister...

journal_title：Cytogenetic and genome research

authors： Hudakova S,Künzel G,Endo TR,Schubert I

更新日期：2002-01-01 00:00:00

abstract：:Since the discovery of SRY/SRY as a testis-determining gene on the mammalian Y chromosome in 1990, extensive studies have been carried out on the immediate target of SRY/SRY and genes functioning in the course of testis development. Comparative studies in non-mammalian vertebrates including birds have failed to find a...

journal_title：Cytogenetic and genome research

authors： Mizuno S,Kunita R,Nakabayashi O,Kuroda Y,Arai N,Harata M,Ogawa A,Itoh Y,Teranishi M,Hori T

更新日期：2002-01-01 00:00:00

abstract：:2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial app...

journal_title：Cytogenetic and genome research

authors： Ronzoni L,Novelli A,Brisighelli G,Peron A,Triulzi F,Bianchi V,Leva E,Bedeschi MF

更新日期：2016-01-01 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

authors： Gunski RJ,Kretschmer R,Santos de Souza M,de Oliveira Furo I,Barcellos SA,Costa AL,Cioffi MB,de Oliveira EHC,Del Valle Garnero A

更新日期：2019-01-01 00:00:00

abstract：:Several patients with 5p duplication or 15q deletion have been reported in the literature, involving different chromosome regions and clinical features. Here, we describe a family in which we identified a 30-Mb 5p15.33p13.3 gain and a 2.5-Mb 15q26.3 loss in 3 individuals, due to a balanced familial translocation betwe...

journal_title：Cytogenetic and genome research

authors： Bellucco FT,Favilla BP,Perrone E,Melaragno MI

更新日期：2020-12-14 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

authors： Shiota K

更新日期：2004-01-01 00:00:00

abstract：:Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated gir...

journal_title：Cytogenetic and genome research

authors： Vozdova M,Fröhlich J,Kubickova S,Sebestova H,Rubes J

更新日期：2017-01-01 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：: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：:Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have ...

journal_title：Cytogenetic and genome research

authors： Fogu G,Campus PM,Cambosu F,Moro MA,Sanna R,Fozza C,Nieddu RM,Longinotti M,Montella A

更新日期：2012-01-01 00:00:00