Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques.

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：:Reciprocal translocations pose a serious problem in pig breeding due to the reduced fertility of the carriers. This paper presents a new reciprocal translocation in a phenotypically normal, but hypoprolific (20% reduction) boar. Chromosome banding as well as the FISH technique with the use of BAC and telomeric probes ...

journal_title：Cytogenetic and genome research

authors： Kociucka B,Szczerbal I,Bugaj S,Orsztynowicz M,Switonski M

更新日期：2014-01-01 00:00:00

abstract：:18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells rev...

journal_title：Cytogenetic and genome research

authors： Sun H,Wan N,Wang X,Chang L,Cheng D

更新日期：2018-01-01 00:00:00

abstract：:The formation of heterochromatin begins in the differentiating cells. The aim of this work was to study changes of satellite DNA distribution, transcriptional activity and interaction with certain proteins in mouse embryonic stem cells after induction with retinoic acid. We found that pericentromeric satellites entere...

journal_title：Cytogenetic and genome research

authors： Enukashvily NI,Malashicheva AB,Waisertreiger IS

更新日期：2009-01-01 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：:Rye B chromosomes (Bs) have strong parasitic effects on fertility. B carrying plants are less fertile than 0B ones, whereas the Bs have no significant effects on plant vigour. On the other hand, it has been reported that B transmission is under genetic control in such a way that H line plants transmit the Bs at high f...

journal_title：Cytogenetic and genome research

authors： González-Sánchez M,Chiavarino M,Jiménez G,Manzanero S,Rosato M,Puertas MJ

更新日期：2004-01-01 00:00:00

abstract：:In recent years increasing attention has been paid to the cytogenetic control of Italian Mediterranean river buffalo (BBU) bulls authorized as sires which are registered in the stud book. Chromosome abnormalities described in this species are mainly numerical and affecting sex chromosomes. During routine cytogenetic a...

journal_title：Cytogenetic and genome research

authors： Albarella S,Ciotola F,Coletta A,Genualdo V,Iannuzzi L,Peretti V

更新日期：2013-01-01 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

authors： Chudoba I,Hickmann G,Friedrich T,Jauch A,Kozlowski P,Senger G

更新日期：2004-01-01 00:00:00

abstract：:Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions ...

journal_title：Cytogenetic and genome research

authors： Krepischi-Santos AC,Rajan D,Temple IK,Shrubb V,Crolla JA,Huang S,Beal S,Otto PA,Carter NP,Vianna-Morgante AM,Rosenberg C

更新日期：2009-01-01 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：:All dogroses (Rosa sect. Caninae) are characterized by the peculiar canina meiosis in which genetic material is unevenly distributed between female and male gametes. The pan-canina rDNA family (termed beta) appears to be conserved in all dogroses analyzed so far. Here, we have studied rDNAs in experimental hybrids obt...

journal_title：Cytogenetic and genome research

authors： Crhak Khaitova L,Werlemark G,Kovarikova A,Nybom H,Kovarik A

更新日期：2014-01-01 00:00:00

abstract：:Phyllotines are sigmodontine rodents endemic to South America with broad genetic variability, Robertsonian polymorphisms being the most frequent. Moreover, this taxon includes a species with multiple sex chromosomes, which is infrequent in mammals. However, molecular cytogenetic techniques have never been applied to p...

journal_title：Cytogenetic and genome research

authors： Lanzone C,Labaroni C,Suárez N,Rodríguez D,Herrera ML,Bolzán AD

更新日期：2015-01-01 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

authors： Kelly FD,Levin HL

更新日期：2005-01-01 00:00:00

abstract：:This paper reports on the chromosomal location of 18S rRNA, 5S rRNA and H3 histone multigene families in 4 species of a relatively ancient and diversified group of grasshoppers belonging to the family Proscopiidae. The 5S rRNA and H3 histone genes were highly conserved in the number of sites and chromosomal position i...

journal_title：Cytogenetic and genome research

authors： Cabral-de-Mello DC,Martins C,Souza MJ,Moura RC

更新日期：2011-01-01 00:00:00

abstract：:A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the...

journal_title：Cytogenetic and genome research

authors： Thibodeau ML,Steinraths M,Brown L,Zong Z,Shomer N,Taubert S,Mungall KL,Ma YP,Mueller R,Birol I,Lehman A

更新日期：2017-01-01 00:00:00

abstract：:Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain M...

journal_title：Cytogenetic and genome research

authors： Holmes SE,O'Hearn E,Margolis RL

更新日期：2003-01-01 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：:We have identified LIM-kinase (LIMK1 and LIMK2), the only known catalytic protein among LIM-family molecules. Both LIMK1 and LIMK2 phosphorylate (inactivate) cofilin, an actin depolymerizing factor, and induce actin cytoskeleton reorganization. We as well as others concurrently demonstrated that LIMK activation was re...

journal_title：Cytogenetic and genome research

authors： Takahashi H,Funakoshi H,Nakamura T

更新日期：2003-01-01 00:00:00

abstract：:Xenopus is an important model organism for the study of genome duplication in vertebrates. With the full genome sequence of diploid Xenopus tropicalis available, and that of allotetraploid X. laevis close to being finished, we will be able to expand our understanding of how duplicated genes have evolved. One of the ke...

journal_title：Cytogenetic and genome research

authors： Kwon T

更新日期：2015-01-01 00:00:00

abstract：:A hitherto undescribed satellite DNA family (AvaII satDNA) has been isolated and characterised in Eumeces schneideri, a squamate reptile belonging to the family Scincidae. AvaII satDNA is characterised by a monomer length of 208 bp, a GC content of 59% and exhibits a certain degree of CpG methylation. FISH experiments...

journal_title：Cytogenetic and genome research

authors： Giovannotti M,Nisi Cerioni P,Caputo V,Olmo E

更新日期：2009-01-01 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：:We compiled 104 constitutional de novo or sporadic rearranged chromosomes mimicking recombinants from a parental pericentric inversion in order to comment on their occurrence and parental derivation, meiotic or postzygotic origin, mean parental ages, and underlying pathways. Chromosomes involved were 1-9, 13-18, 20-22...

journal_title：Cytogenetic and genome research

authors： Rivera H,Domínguez MG,Vásquez-Velásquez AI,Lurie IW

更新日期：2013-01-01 00:00:00

abstract：:To obtain an estimate of the variation in common fragile sites (CFSs) among individuals, aphidicolin (APC)-induced chromosomal breakage data were analyzed for 20 karyotypically normal adult humans. As it is specifically designed to meet the analytical requirements for considering fragile sites as presence/absence char...

journal_title：Cytogenetic and genome research

authors： Denison SR,Simper RK,Greenbaum IF

更新日期：2003-01-01 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：: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：: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：: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：:The INRA and the CHORI-241 horse BAC libraries were screened by hybridization with DNA probes and/or directly by PCR with primers designed in consensus sequences of genes localized at the end of each human chromosome. BAC clones were retrieved and 36 could be FISH mapped after the expected gene was confirmed in each B...

journal_title：Cytogenetic and genome research

authors： Perrocheau M,Boutreux V,Chadi-Taourit S,Di Meo GP,Perucatti A,Incarnato D,Cribiu EP,Guérin G,Iannuzzi L

更新日期：2005-01-01 00:00:00

abstract：:It is well known that TP53 may mediate apoptosis triggered by anticancer drugs. However, accumulating evidence indicates that TP53 may be inactivated by mutations and/or deletions in about 50% of human cancers and, as such, may lead to pronounced resistance to therapeutic agents. Thus, the development of new approache...

journal_title：Cytogenetic and genome research

authors： Wang J,Wang XF,Zhang LG,Xie SY,Li ZL,Li YJ,Li HH,Jiao F

更新日期：2009-01-01 00:00:00

abstract：:Genomic imprinting has a special role in placental biology. Imprinted genes are often strongly expressed in the placenta, and the allelic expression bias due to imprinting is sometimes stronger in this extraembryonic organ than in the embryo and adult. Mutations, epimutations, and uniparental disomies affecting imprin...

journal_title：Cytogenetic and genome research

authors： Tycko B

更新日期：2006-01-01 00:00:00