bluuebunny/crossref_metadata_2025 huggingface dataset:
Multiple Neural Tube Defects: A Clinical Series of Seven Cases and Their Embryological Basis
Authors: Ahmad F.U. , Dwarakanath S. , Sharma B.S. , Mahapatra A.K.
Published: May 2008

Introduction: There have been isolated cases of such multiple neural tube defects (MNTDs) described in the world literature. We report 7 cases of MNTDs and review the available literature. Materials and Methods: This retrospective study included all patients who were managed with MNTDs at our institute from 2001 to 2006. Results: Among a total of 474 cases of neural tube defects,7 patients had MNTDs. Among these, 5 had a double neural tube defect while 2 had a triple neural tube defect. Six were operated upon successfully while 1 patient refused any form of intervention. Conclusion: The presence of meningomyelocele and/or encephaloceles at multiple (two or more) sites along the vertebral axis is a very rare event occurring in <1% of cases. Less than 10 cases have been described in the published literature. This series is the largest so far on these rare anomalies. We also discuss the embryogenesis, which is better explained by the multisite closure theory.
Dexamethasone’s Prosurvival Benefits in Podocytes Require Extracellular Signal-Regulated Kinase Phosphorylation
Authors: Wada Takehiko , Pippin Jeffrey W. , Nangaku Masaomi , Shankland Stuart J.
Published: May 2008

Background: The reduction in podocyte number is a critical determinant in the development of glomerular diseases. Our recent study demonstrated that glucocorticoids, which are widely used for the treatment of various forms of glomerular injury characterized by proteinuria, protect podocytes from undergoing apoptosis induced by puromycin aminonucleoside (PA). However, the precise mechanisms underlying the beneficial effects of glucocorticoids on podocytes remain to be fully elucidated. Methods: To clarify the role of p53 in apoptosis-inducing factor (AIF) translocation associated with podocyte apoptosis, we performed immunostaining for AIF on cultured mouse podocytes in the presence of the p53 inhibitor pifithrin-α. Extracellular signal-regulated kinase (ERK) phosphorylation in podocytes was measured by Western blot analysis. The role of ERK phosphorylation in podocyte apoptosis was also investigated utilizing MEK1/2 inhibitor U0126. Results: AIF translocation to nuclei was p53 dependent. Furthermore, phosphorylated ERK was reduced in podocytes exposed to PA, and this was prevented by dexamethasone (DEX). Inhibition of ERK phosphorylation by U0126 enhanced podocyte apoptosis induced by PA. Interestingly, when ERK phosphorylation was inhibited, DEX exerted a proapoptotic effect on podocytes, and this effect was also associated with AIF translocation. Our results showed that DEX did not prevent caspase-3-dependent podocyte apoptosis induced by transforming growth factor-β1 (TGF-β1) or UV-C. Conclusion: These results suggest that ERK phosphorylation and the subcellular localization of AIF are important determinants in the protective effect of DEX in podocytes.
Levodopa-Induced Dyskinesias in Parkinson’s Disease: Etiology, Impact on Quality of Life, and Treatments
Authors: Encarnacion Elmyra V. , Hauser Robert A.
Published: May 2008

Levodopa is the most effective agent to alleviate motor dysfunction in Parkinson’s disease but its long-term use is associated with the development of dyskinesias. Although the pathogenic processes behind the development of levodopa-induced dyskinesias are still being elucidated, it appears that chronic administration of this short-lived agent results in nonphysiologic pulsatile stimulation of striatal neurons and abnormal firing patterns in the basal ganglia. Dyskinesias have been associated with decreased quality of life, and a number of methodologies to evaluate severity of dyskinesias are now available. Strategies to avoid, reduce, or eliminate dyskinesias include providing more continuous dopaminergic stimulation, administering an antidyskinetic agent, and surgery. Several new compounds that may provide an antidyskinetic effect are also under investigation.
Analysis of Life-Threatening Complications of Deep Neck Abscess and the Impact of Empiric Antibiotics
Authors: Yang Shih-Wei , Lee Ming-Hsun , Lee Yun-Shien , Huang Shu-Huan , Chen Tai-An , Fang Tuan-Jen
Published: May 2008

Background: To review our experience in the treatment of deep neck abscesses, including analysis of the contributing factors related to the life-threatening complications and the effects of empiric antibiotics on the outcomes. Methods: A retrospective study and statistical analysis of patients with deep neck abscesses treated at Chang Gung Memorial Hospital between April 2000 and April 2006. Results: A total of 105 patients were enrolled in this study, including 66 males and 39 females with age ranging from 18 to 93 years. The result of logistic regression showed that old age, patients with underlying systemic diseases (p<0.05) and ineffective empiric antibiotics (p<0.01) had statistically significant correlation with life-threatening complications. When the age was older than 65 years, the empiric antibiotics were not effective, the way of drainage of the abscess was transcervical incision, the initial deep neck abscess involved more than 1 space, or the patient had underlying systemic diseases or complications, the duration of hospital stay tended to be longer (p <0.01). Conclusions: Even when adequately draining the abscess, the treatment of deep neck abscess in old-age patients more than 65 years, or the patients with ineffective empiric antibiotics or underlying systemic diseases should be more aggressive because life-threatening complications happen more frequently.
Association of Insulin Resistance with de novo Coronary Stenosis after Percutaneous Coronary Artery Intervention in Hemodialysis Patients
Authors: Nishimura Masato , Tokoro Toshiko , Nishida Masasya , Hashimoto Tetsuya , Kobayashi Hiroyuki , Yamazaki Satoru , Imai Ryo , Okino Koji , Takahashi Hakuo , Ono Toshihiko
Published: May 2008

Background/Aims: De novo coronary atherosclerosis may be involved in the poor prognosis after percutaneous coronary artery intervention (PCI) in hemodialysis patients. We aimed to clarify the factors associated with de novocoronary lesion in this population. Methods: We enrolled 106 patients on hemodialysis (72 men, 34 women; mean age, 65.4 ± 8.9 years), who had firstly received PCI with bare-metal stents for single coronary lesions and undergone follow-up coronary angiography (CAG) 6 months thereafter. Coronary lesion with stenosis of >50% diameter that was newly recognized at follow-up CAG was defined as de novo coronary stenosis. The values of biochemical parameters were determined as the means of several measurements between PCI and follow-up CAG. Results: Follow-up CAG revealed de novo coronary stenosis in 40 (37.7%) of the 106 hemodialysis patients who had received PCI. Stepwise multiple logistic regression analysis showed that de novo coronary lesions were strongly associated with homeostasis model assessment insulin resistance index (HOMA-IR; 1 mM× [µU/ml]: odds ratio, 7.312; p =0.001). This significant association of HOMA-IR with de novo coronary stenosis was recognized in the diabetic and nondiabetic subgroups. Conclusions: Insulin resistance may be involved in the progression of nonculprit coronary atherosclerosis after PCI in hemodialysis patients.
Sperm age, sex ratio, and hyperhaploidy frequency in mice
Authors: Sapp M.C. , Martin-DeLeon P.A.
Published: May 2008

Physiologically aged and unaged sperm from each of 12 sexually mature B6SJLF1/J mice were used to fertilize oocytes from females of the same strain, with each male serving as its own control. Male genomes in 323 and 307 first-cleavage metaphases obtained by in vivo and in vitro fertilization, respectively, were analyzed cytogenetically, using C-banding for detection of the Y chromosome. The sex (X:Y) ratio among all zygotes resulting from in vivo fertilization was 1.18; in zygotes resulting from in vivo fertilization by aged (14-d mating intervals) sperm, however, the ratio was 1.53, which differed significantly (χ2 = 6.72, P < 0.01) from the theoretical value of 1.00. Comparison of the sex ratio in zygotes resulting from in vivo fertilization by unaged sperm (3-d mating intervals), 0.94, with that in zygotes resulting from fertilization by aged sperm (using a 2 × 2 contingency table) showed a significant (χc2 = 4.19, P < 0.05) relationship between sex ratio and sperm age. In vitro, neither the combined nor the individual 3- and 14-d data deviated significantly from the expected sex ratio of 1.00. The frequency of sperm-derived hyperhaploidy did not differ significantly between the in vivo (3.4%) and in vitro (5.9%) populations, but did between unaged (2.5%) and aged (6.8%) sperm (χc2 = 5.74, P < 0.01). All hyperhaploid zygotes had a complement of n + 1 chromosomes, except the 14-d in vitro group, where complements of n + 2 and n + 3 chromosomes were seen. Sperm-derived polyploidy, which was observed only in the in vitro group, was independent of sperm age and occurred in 6.8 % of the zygotes. These data provide support for the sperm-aging hypothesis and indicate, for the first time, an influence of sperm aging in the male genital tract on the X:Y ratio of conceptuses resulting from natural matings of chromosomally normal males.
Detection of cell-cycle stage by fluorescence in situ hybridization: its application in human interphase cytogenetics
Authors: Mukherjee A.B. , Murty V.V.V.S. , Chaganti R.S.K.
Published: May 2008

Distinct cell-cycle-dependent changes in the conformation of centromeric chromatin in a specific human chromosome containing α-satellite DNA have been demonstrated by fluorescence in situ hybridization (FISH). This method, based upon specific FISH signal morphology, allows simultaneous analysis of chromosomal aneuploidy and detection of specific cell-cycle stage(s) of human tumor and/or normal cell populations in a single preparation of interphase cells. This interphase cytogenetic procedure might prove useful for both basic and clinical research involving human cells.
Localisation of the gene for human aromatic L-amino acid decarboxylase (DDC) to chromosome 7p13→p11 by in situ hybridisation
Authors: Craig S.P. , Le Van Thai A. , Weber M. , Craig I.W.
Published: May 2008

The human gene for aromatic L-amino acid decarboxylase (DDC) was previously assigned to chromosome 7 by analysis of a panel of somatic cell hybrids. We report here refinement of this localisation, by in situ hybridisation, to 7p13→p11.
Regional localization of the selenocysteine tRNA gene (TRSP) on human chromosome 19
Authors: Mitchell A. , Bale A.E. , Lee B.J. , Hatfield D. , Harley H. , Rundle S.A. , Fan Y.S. , Fukushima Y. , Shows T.B. , McBride O.W.
Published: May 2008

The human selenocysteine tRNA gene (TRSP) has been localized on chromosome 19q13.2→q13.3 by in situ hybridization and ordered with respect to other genes and anonymous DNA markers in this region by linkage analysis in the forty CEPH pedigrees. These loci span only 10 cM in males and about 30 cM in females. The order of the loci is cen ... D19S7-D19S9-D19S47-CYP2A-CYP2F1-APOC2-(TRSP, CKM). CYP2B flanks the CYP2A and CYP2F1 loci, but it cannot be determined whether it is proximal or distal to the other two cytochrome P450 loci with respect to the centromere.
Segregation analysis reveals tight genetic linkage between the spontaneously arising neural tube defect gene splotch (Sp) and Pax-3 in an intraspecific mouse backcross
Authors: Mancino F. , Vekemans M. , Trasler D.G. , Gros P.
Published: May 2008

Concurrent research has recently characterized Sp2H, a radiation induced mutation at the splotch (Sp) locus, and found alterations in the murine paired box gene, Pax-3, in homozygous Sp2HDNA. It was proposed that Sp and Pax-3 are the same gene. This report presents additional genetic evidence in support of this finding through linkage studies. Southern blot analysis of genomic DNAs from a panel of 125 intraspecific [(Sp/+ × CBA/J)F1-Sp × CBA/J] backcross mice reveals no crossover between Pax-3 and the spontaneously occurring splotch allele, Sp. This positions Pax-3 within 2.9 cM of the Sp locus (95% confidence interval) and suggests tight genetic linkage between the two marker genes.
The genes for protamine 1 and 2 (PRM1 and PRM2) and transition protein 2 (TNP2) are closely linked in the mammalian genome
Authors: Engel W. , Keime S. , Kremling H. , Hameister H. , Schlüter G.
Published: May 2008

The genes for two protamines (PRM1 and PRM2) and for two transition proteins (TNP1 and TNP2) have been characterized in several mammalian species. In the human, boar, and bull, the genes for PRM1, PRM2, and TNP2 are closely linked over a stretch of DNA 13–15 kb long. Although similar data are not yet available for the mouse and rat, our results suggest that the three genes are similarly linked in these species. The gene for TNP 1 in all species studied is located on another chromosome.
Fluorescence in situ mapping of the human nuclear NAD+ ADP-ribosyltransferase gene (ADPRT) and two secondary sites to human chromosomal bands 1q42, 13q34, and 14q24
Authors: Baumgartner M. , Schneider R. , Auer B. , Herzog H. , Schweiger M. , Hirsch-Kauffmann M.
Published: May 2008

A 3.5-kb cDNA probe containing the 23 exons from the coding sequence of human nuclear NAD+ ADP-ribosyltransferase (poly [ADP-ribose] polymerase [ADPRT], E.C.2.4.2.30) was used to map the gene and two additional sites by nonisotopic in situ chromosomal hybridization. The previous localization of the structural gene on 1q42 was confirmed. Two other hybridization peaks on 13q34 and 14q24 suggested the presence of ADPRT pseudogenes.
Mapping of repetitive bovine DNA sequences on cattle Y chromosomes
Authors: Schwerin M. , Gallagher, Jr. D.S. , Miller J.R. , Thomsen P.D.
Published: May 2008

Three male-specific PCR products of the sequences BC1.2, λ ES6.0, and BRY.l were used as probes for Southern blot analyses. Each of these probes generated a complex male-specific band pattern, which showed some quantitative variations among bulls. Hybridization patterns obtained with the BC1.2 and λ ES6.0 PCR products were interrelated. Chromosomal locations of these repeats were determined by hybridizing the tritiated PCR products in situ to male metaphase spreads. The BC1.2 and λ ES6.0 PCR products hybridized to Yp13→p12, whereas the BRY.l PCR product hybridized over the entire Y chromosome. In addition, the BC1.2 and λ ES6.0 PCR products hybridized to the distal half of the acrocentric Y chromosome of Bos indicus, indicating that the short arm of the B. taurus Y chromosome is homologous with the telomeric end of the B. indicus Y and supporting the notion that the Y chromosomes of these two species differ by a pericentric inversion.
Male meiosis and gametogenesis in wild house mice (Mus musculus domesticus) from a chromosomal hybrid zone; a comparison between “simple” Robertsonian heterozygotes and homozygotes
Authors: Wallace B.M.N. , Searle J.B. , Everett C.A.
Published: May 2008

Wild male house mice Mus musculus domesticus were collected from the hybrid zone between the John o’Groats race (2n = 32) and the standard race (2n = 40) in northern Scotland. Meiosis in both homozygotes (2n = 32, 36, and 40) and single Robertsonian heterozygotes (2n = 33, 35, and 37) was found to be orderly. At prophase/metaphase I in heterozygotes, a trivalent was formed from the metacentric and two homologous acrocentrics. At pachytene, this trivalent usually had a single side arm at the position of the centromeres, as a result of nonhomologous pairing of the acrocentrics. This side arm persisted into diplotene. Generally only a single chiasma was formed between each acrocentric and the metacentric. Ana-phase I nondisjunction frequencies were estimated as 1.5% for the homozygotes and 2.7% for the heterozygotes. The extent of germ cell death between the pachytene and round spermatid stages was 18 % greater in heterozygotes than in homozygotes. Our results concur with previous studies which indicate that single Robertsonian heterozygotes in wild house mice have near-normal fertility.
Chromosome painting using chromosome-specific probes from flow-sorted pig chromosomes
Authors: Langford C.F. , Telenius H. , Carter N.P. , Miller N.G.A. , Tucker E.M.
Published: May 2008

Biotinylated chromosome-specific probes were prepared from flow-sorted pig chromosomes 1 13,18, X, and Y using the degenerate oligonucleotide-primed polymerase chain reaction. Probes prepared in this way can be used to confirm the identity of chromosomes in the bivariate pig flow karyotype and in pig × mouse somatic cell hybrids.
The human gene for Oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization
Authors: Gopal Rao V.V.N. , Löffler C. , Battey J. , Hansmann I.
Published: May 2008

Two posterior pituitary hormones oxytocin and arginine-vasopressin control the important activities of water excretion, parturition and lactation. Both these hormones are synthesized as inactive precursors in the hypothalamus along with their carrier proteins neurophysin I and neurophysin II respectively and are activated upon transport to posterior pituitary. Human genes for both oxytocin-neurophysin I (OXT) and arginine-vasopressin-neurophysin II (ARVP) are cloned and found to be linked on chromosome 20 separated by approximately 12 kb of intergenic sequences. Though OXT is not yet associated with any disease, ARVP is linked to the autosomal dominant disease neurohypophyseal diabetes insipidus (AD-NDI). We have mapped regionally the OXT locus to chromosome 20p13 by both radioactive (ISH) and fluorescence in situ hybridization (FISH).
Mechanisms of distamycin A/DAPI chromosome staining
Authors: Burckhardt G. , Votavova H. , Jantsch M. , Zimmer C. , Lown J.W. , Schweizer D.
Published: May 2008

The molecular mechanism underlying distamycin A-induced differential DAPI fluorescent staining of metaphase chromosomes was studied in Sus scrofa domestica both cytologically, using, besides DAPI, two isomeric derivatives of DAPI (D288.45 and D288.48), and molecularly, by in vitro competitive-binding studies using 5”. scrofa satellite DNA and synthetic DNA polymers. Significant differences in heterochromatin staining were observed between D288.45 and D288.48. Distinct distamycin A/DAPI bands were obtained with DAPI and D288.45 but not with D288.48. Circular dichroism measurements were performed to characterize the displacement of DAPI from its DNA binding sites by distamycin A and also netropsin. Distamycin A was most effective in displacing DAPI when DAPI was bound to contiguous clusters of AT base pairs and much less effective in displacing DAPI bound to GC or mixed AT/GC base-pair sequences. The results of these competitive-binding studies provide the basis of a molecular explanation of the quenching phenomenon of distamycin A counterstaining on chromosomal DAPI fluorescence.
Regional localization of the human vitronectin receptor α subunit gene (VNRA) to chromosome 2q31→q32
Authors: Fernández-Ruiz E. , Pardo-Manuel de Villena F. , Rodríguez de Córdoba S. , Sánchez-Madrid F.
Published: May 2008

The vitronectin receptor (αv: β3; CD51/CD61), a member of the β3 integrin subfamily (cytoadhesins), functions as a receptor for a group of proteins that includes vitronectin, fibrinogen, thrombospondin, and von Willebrand factor. The human locus for the αv gene (VNRA) was previously mapped to the long arm of chromosome 2 by DNA analysis of somatic cell hybrids. By using fluorescence in situ hybridization, coupled with GTG-banding, we have regionally mapped the human αv gene to chromosome 2q31→q32. An identical location was previously reported for the human gene coding for the integrin VLA-α4 subunit (CD49D). These data, therefore, suggest the existence of a cluster of integrin genes at this chromosomal location.
Chromosome banding in Amphibia
Authors: Schmid M. , Steinlein C. , Feichtinger W. , Poot M.
Published: May 2008

DNA flow cytophotometric measurements demonstrate that the quantity of nuclear DNA of the South American leptodactylid frog Pleurodema brachyops is 3.4 times greater than that of P. thaul. Nevertheless, the conventionally stained karyotypes of both species are nearly identical. In the metaphase chromosomes of P. brachyops, the chromatin has a distinctly higher degree of packaging than in those of P. thaul. C-banding reveals that almost 6 times the constitutive heterochromatin is present in the karyotype of P. brachyops than in the karyotype of P. thaul. Analysis of fluorescence banding patterns shows that the chromosomes of P. brachyops contain AT- and GC-rich heterochromatin, whereas the karyotype of P. thaul is devoid of brightly fluorescing heterochromatin. The substantial differences in the genome sizes of Pleurodema is explained by homogeneous, symmetrical changes in the amounts of all DNA sequence classes along all chromosomes, which preserved the ancestral morphology of the chromosomes.
Demonstration of replication patterns on histone-depleted chromosomes
Authors: Just W. , Autenrieth M. , Vogel W.
Published: May 2008

A modified immunologic technique is described for the purpose of demonstrating replication patterns on mammalian chromosomes after partial histone depletion. Replication patterns were induced by BrdU substitution and visualized by BrdU antibodies, coupled with peroxidase (diaminobenzidine/H2O2 or immunogold-detection. The replication patterns obtained by this technique did not reveal any additional details of replication compared to those shown by conventional cytogenetic staining. However, the possibility of demonstrating replication patterns on these partially histone-depleted chromosomes may prove useful for chromosomal in situ hybridization studies since the chromosomes produced are considerably larger than those seen in conventional preparations.
Partial sequence data from three evolutionarily conserved loci from the proximal short arm of the human X chromosome; assignment of DXF34S1 to Xp11.21-cen
Authors: Reed V. , Laval S. , Maslen G. , Boyd Y.
Published: May 2008

DNA sequence data have been obtained from three clones derived from the human X chromosome which contain evolutionarily conserved sequences. Primers have been designed which enable these loci to be defined as sequence-tagged-sites (STS’s). The assignment of one of the loci, DXF34S1, has been refined to Xp11.21-cen, thus limiting the novel pericentromeric segment of homology defined by this locus to the extreme proximal region of Xp.
A “hot spot” of recombination coincides with an interstitial telomeric sequence in the Armenian hamster
Authors: Ashley T. , Ward DC.
Published: May 2008

The chromosomes of male Armenian hamsters (Cricetulus migratorius) exhibit highly localized terminal and interstitial chiasmata. An interstitial telomeric sequence detected by in situ hybridization was clearly visible at the primary constriction of a large metacentric in both mitotic and meiotic chromosomes. This telomeric sequence was the site of a chiasma in 69% of all 58 diakinesis/metaphase I cells examined. The frequency of meiotic exchange at this site was therefore 34.5%, an extraordinary “hot spot” of recombination. Subsequent chiasma interference can be assumed to reduce recombination and tighten linkage along both arms of male hamster chromosomes. These observations suggest that telomere-promoted recombination may represent a second pathway of recombination, mechanistically different from the more heterodispersed process of meiotic exchange.
Assignment of the human slow skeletal muscle troponin gene (TNNI1) to 1q32 by fluorescence in situ hybridisation
Authors: Eyre H.J. , Akkari P.A. , Meredith C. , Wilton S.D. , Callen D.C. , Kedes L. , Laing N.G.
Published: May 2008

The human gene for slow-twitch skeletal muscle troponin I (TNNI1) has previously been mapped to 1q12→qter using somatic cell hybrids. The TNNI 1 locus has now been further localised to 1q32 using fluorescence in situ hybridization. This result confirms the previous assignment of this locus and maps the gene to a single chromosome band.
Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11
Authors: Jeanpierre C. , Whitmore S.A. , Austruy E. , Cohen-Salmon M. , Callen D.F. , Junien C.
Published: May 2008

We report the chromosomal assignment on chromosome arm 16p of a cDNA clone isolated through its expression in mature kidney and lack of expression in several Wilms tumors. DNA sequencing and analysis of the pattern of RNA expression in different tissues identified this clone as a uromodulin (Tamm-Horsfall glycoprotein, uromucoid; UMOD) sequence. By hybridizing this clone to somatic cell hybrids carrying different human chromosomes or segments of chromosome 16 the gene for UMOD was localized to 16p13.11.
Integration of the cytogenetic and genetic linkage maps of human chromosome 16 using 50 physical intervals and 50 polymorphic loci
Authors: Kozman H.M. , Phillips H.A. , Callen D.F. , Sutherland G.R. , Mulley J.C.
Published: May 2008

A comprehensive genetic linkage map constructed from 50 loci represented by 68 markers was anchored to 50 cytogenetically defined intervals on human chromosome 16. The linear order of the loci on the cytogenetic map was compatible with the independently derived linear order on the genetic map. The sex-averaged genetic length is 164.5 cM, with an average distance between loci of 3.3 cM. Sex-specific distances are 132.8 cM in males and 201.8 cM in females. This is the first detailed synthesis of genetic and cytogenetic maps for any human chromosome and is the first step in correlating the genetic and physical maps of this chromosome. The combined map, containing 15 loci with a minimum heterozygosity of 60% and 6 PCR-formatted microsatellite markers, will be useful for assignment and regional localization of disease genes to this chromosome
Physical localization of 70 polymorphic markers to human chromosome 5 by fluorescence in situ hybridization
Authors: Neuman W.L. , Westbrook CA. , Dixon M. , Espinosa, III R. , Patel Y.D. , Nakamura Y. , Weiffenbach B. , Le Beau M.M.
Published: May 2008

We used fluorescence in situ hybridization (FISH) to prepare a cytogenetic framework map of 21 polymorphic markers that had been used previously to construct a genetic linkage anchor map of chromosome 5. In addition, we localized 49 other markers that have been genotyped on CEPH families. This study demonstrates that FISH can be used to confirm genetic linkage data, and that it can provide a means of determining the cytogenetic locations and relative order of markers whose order could not be assigned by genetic linkage analysis alone. The cytogenetic map prepared by FISH may help to identify probes of interest for regional mapping studies.
Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes
Authors: Silahtaroglu A.N. , Tümer Z. , Kristensen T. , Sottrup-Jensen L. , Tommerup N.
Published: May 2008

Low levels of pregnancy-associated plasma protein A (PAPPA) during the first trimester has been suggested as a biochemical indicator of pregnancies with aneuploid fetuses. Furthermore, the complete absence of PAPPA in pregnancies associated with Cornelia de Lange syndrome (CL) has suggested a causal connection between PAPPA and the development of CL. We have assigned the locus for PAPPA to chromosome region 9q33.1 on mitotic and meiotic chromosomes by fluorescence in situ hybridization, using a 3.7-kb partial PAPPA cDNA probe.
Specific induction of uncoiling and recombination by azacytidine in classical satellite-containing constitutive heterochromatin
Authors: Kokalj-Vokac N. , Almeida A. , Viegas-Péquignot E. , Jeanpierre M. , Malfoy B. , Dutrillaux B.
Published: May 2008

Azacytidine (ACR) is known to induce uncoiling and somatic association involving the constitutive heterochromatin of human chromosomes 1, 9, 15, and 16 and the Y. These regions are composed of alphoid and classical satellite DNA sequences. Using specific probes for chromosomes 1 and 16, we have performed two-color fluorescence in situ hybridization on human lymphocytes cultured in the presence of ACR. We demonstrate that for these two chromosomes (1) uncoiling and association specifically occur in classical satellite-containing regions at the first cell generation, (2) breakages also affect these regions, and (3) somatic recombinations occur between these regions and lead to translocations at the next cell generation. These results suggest that changes in methylation of repetitive DNA sequences are related to chromosomal instability occurring during cell transformation and tumorigenesis.
Fluorescence in situ hybridization combined with immunohistochemistry for highly sensitive detection of chromosome 1 aberrations in neuroblastoma
Authors: Strehl S. , Ambros P.F.
Published: May 2008

The development and application of a highly sensitive double-target fluorescence in situ hybridization (FISH) method in combination with immunohistochemistry for detection of chromosome 1 abnormalities in interphase nuclei of neuroblastoma samples is reported. An α-satellite probe specific for chromosome 1 and a VNTR probe that hybridizes to chromosome band lp36.3 were hybridized to GD2 prestained neuroblastoma cells in double-target FISH experiments. The ratio of intact to deleted chromosome 1 homologs in the neuroblastoma cells was assessed. To demonstrate the reliability of the method described, four selected samples derived from different neuroblastoma stages are presented. FISH results correlated well with data obtained by conventional cytogenetic procedures. The technique described allows sensitive detection of chromosome 1 abnormalities in interphase nuclei and enables partial cytogenetic analysis of nondividing cells with a defined immunological phenotype.
Anticentromere antibody specific to human cells directed against the CENP-B autoantigen
Authors: Bejarano L.A. , Bolivar J. , Valdivia M.M.
Published: May 2008

We describe the generation of a new antipeptide antibody that binds to the centromeric region of human mitotic chromosomes. This antibody was raised against a synthetic peptide corresponding to the 481–493 amino acid sequence of the human CENP-B autoantigen. Immunofluorescence analysis revealed that this anti-CENP-B serum showed an identical pattern to the human CREST anticentromere autoantibody in both mitotic cells and interphase nuclei. Immunoblotting showed that this antibody reacts with the recombinant human CENP-B autoantigen, indicating that it is directed to the 80-kDa centromere polypeptide. We have used this serum to determine, by indirect immunofluorescence, whether CENP-B is conserved in different mammalian species. Surprisingly, the human antipeptide antibody does not react with the centromeric proteins of cultured mouse, hamster, or Indian muntjac cells. Because the CENP-B gene has been cloned in human and mouse, our results suggest that the CENP-B epitope used as an immunogen in this study is not ubiquitous in mammalian cells, and that we have most probably established a monospecific antibody to the human centromere.
Regional mapping of the Rowett nude gene (RONU) to rat chromosome 10q24→q32 by localizing linked SYB2 and GH loci
Authors: Kuramoto T. , Serikawa T. , Hayasaka N. , Mori M. , Yamada J.
Published: May 2008

The Rowett nude gene (RONU) has been mapped on rat chromosome (Chr) 10 by linkage analysis using (ACI × F344/N-RONU/RONU)F1 × F344/N-RONU/RONU backcrossprogeny. The gene order on the chromosome was RR92 -(16.1 cM) – RR24 – (17.9 cM) – MYHSE (myosin heavy chain, embryonic) – (1.0 cM) – SYB2 (synaptobrevin 2) – (1.0 cM) -SHBG (sex hormone-binding globulin) – (4.0 cM) – RONU (Rowett nude) – (29.0 cM) – AEP (anion exchange protein), PPY (pancreatic polypeptide) – (3.0 cM) – ACE (angiotensin I converting enzyme), GH (growth hormone). The RONU locus was localized to 10q24→q32 by fluorescence in situ hybridization of the closely linked SYB2 and loosely linked GH loci on the opposite side. Conserved linkage of homologous loci mapped to rat Chr 10 and mouse Chr 11 supports the hypothesis that the RONU locus is a rat homolog of the mouse nu locus.
Linkage map of 10 polymorphic markers on rat chromosome 2
Authors: Zha H. , Wilder R.L. , Goldmuntz E.A. , Cash J.M. , Crofford L.J. , Mathern P. , Remmers E.F.
Published: May 2008

Analysis of F2 intercross progeny of inbred F344/N × LEW/N rats led to the assignment of 10 polymorphic PCR-typable markers to rat chromosome 2. The markers form a single linkage group covering 47.9 cM with the following order: D2N1R – D2N28 – FGG (γ fibrinogen) – PKLR (liver and RBC pyruvate kinase) – ATP1A1 (the α-1 polypeptide of Na+/K+ transporting ATPase) – HSD3B (hydroxy-δ-5-steroid dehydrogenase) – D2N2R – D2N91 – CAMKI (calmodulin-dependent protein kinase II) – D2N35. All but two of the markers (D2N1R and D2N2R) were detected using specific PCR primers flanking dinucleotide repeats. Sequences with dinucleotide repeats associated with five genes (FGG, PKLR, ATP1A1, HSD3B, and CAMKI) were identified in GenBank, and primers were designed to flank these repeats. The PCR primer pairs for three anonymous markers (D2N28, D2N91, and D2N35) were identified by sequencing cloned LEW/N rat genomic DNA containing (CA)n • (GT)n repeats. D2N1R and D2N2R were identified by PCR amplification of genomic DNA with single, nonspecific 10-base oligonucleotide primers. All of the markers were codominant except for D2N1R, D2N2R, and CAMKI, which only amplified from F344/N homozygous and heterozygous rat DNA. The seven codominant markers were highly polymorphic in 10 other inbred rat strains (SHR/N, WKY/N, MNR/N, MR/N, LOU/MN, BN/SsN, BUF/N, WBBl/N, WBB2/N, and ACI/N), suggesting that they will be useful for general mapping studies among these strains. Comparative gene mapping analysis indicated that a portion of the mapped region of rat chromosome 2 exhibits synteny conservation with regions of human chromosome 1 and mouse Chromosome 3.
An X-Y homologous pairing segment in tree shrews (Tupaia)
Authors: Toder R. , Rumpler Y. , Von Holst D. , Schempp W.
Published: May 2008

High-resolution early replication banding of tupaia metaphase chromosomes revealed a synchronous early replicating segment in the short-arm telomeric regions of the active and inactive X chromosomes and in the long-arm telomeric region of the Y chromosome. Hybridization with the human-derived pseudoautosomal probe 113F (STIR) showed that this repeat is conserved and specifically localized within these synchronously early replicating segments of the X short arm and the Y long arm of all three tupaia species (Tupαiα belαngeri, T. chinensis, and T. glis) investigated. Moreover, meiotic studies demonstrated that a synaptonemal complex is formed at one telomeric end of the XY bivalent during the pachytene stage of meiosis in a male T. glis specimen. Thus, apart from the mouse, the tupaias are the first nonprimate mammals for which cytogenetic and molecular evidence is provided that their highly heteromorphic X and Y chromosomes share a conserved homologous segment in the telomeric position, a location that is compatible with pairing and crossing-over in male meiosis. Taken together, these observations strongly, albeit indirectly, suggest that this chromosome segment at the tip of a sex-chromosome arm might behave pseudoautosomally.
Interstitial localization of telomeric DNA sequences in the Indian muntjac chromosomes: further evidence for tandem chromosome fusions in the karyotypic evolution of the Asian muntjacs
Authors: Lee C. , Sasi R. , Lin C.C.
Published: May 2008

The Indian muntjac is believed to have the lowest chromosome number in mammals (2n = 6 in females and 2n = 7 in males). It has been suggested that a series of tandem chromosome fusions from an ancestral Chinese muntjac-like species (2n = 46) may have occurred during the karyotypic evolution of the Indian muntjac. In an earlier study, hybridization signals generated by the Chinese muntjac centromeric heterochromatin DNA probe (C5) were found to be distributed interstitially in the chromosomes of the Indian muntjac, providing supportive evidence for the tandem chromosome fusion theory. In this study, the highly conserved human telomeric DNA sequence (TTAGGG)n was localized by fluorescence in situ hybridization (FISH) on the metaphase chromosomes of three Cervidae species: the Indian muntjac, Chinese muntjac, and woodland caribou. As expected, hybridization signals were observed at the termini of almost every chromosome in all three species. In addition, interstitial hybridization signals were detected in chromosomes 1 and 2 of the Indian muntjac. The observed interstitial telomeric signals appeared to correspond to specific interstitial centromeric heterochromatin sites. These interstitial telomeric signals could represent remnant DNA sequences from the ancestral species telomeres, further supporting the tandem chromosome fusion theory. Furthermore, these observations permit the elucidation of the chromosome sites where breakage and fusion most likely occurred during the restructuring of the ancestral Chinese muntjac-like chromosomes to form the present day Indian muntjac karyotype.
Cytogenetics of bisexual/unisexual species of Poecilia. V. Unisexual poeciliids with anomalous karyotypes from northeastern Mexico
Authors: Sola L. , Rossi A.R. , Bressanello S. , Rasch E.M. , Monaco P.J.
Published: May 2008

Unisexual poeciliid fishes collected from two localities in the Soto la Marina drainage have been analyzed. Unisexual diploid and triploid specimens with anomalous karyotypes were found among karyotypically normal speci mens. Chromosomal data are discussed in light of the origin of clonal diversity in unisexual/bisexual breeding complexes and with regard to the role of triploids in these breeding complexes.
In situ hybridization localizes the human OTF3 to chromosome 6p21.3→p22 and OTF3L to 12p13
Authors: Guillaudeux T. , Mattei M.G. , Depetris D. , Le Bouteiller P. , Pontarotti P.
Published: May 2008

Otf-3 (Octamer-binding transcription factor 3) is an octamer binding protein encoded by the murine gene Otf-3. Otf-3 belongs to a multigenic family and maps to the mouse Chromosome 17 between the Q and T regions within the major histocompatibility complex (MHC). We report the mapping of the human homologue: OTF3, to human chromosome 6p21.3→p22 within or close to the human MHC class I region. Furthermore, one OTF3-like copy (OTF3L) is localized to 12p13.
Confirmation of isochromosome 18p using whole chromosome arm-specific fluorescence in situ hybridization
Authors: Mewar R. , Harrison W. , Overhauser J.
Published: May 2008

Fluorescent in situ hybridization (FISH) using a pool of DNA clones that have been mapped to the short arm of chromosome 18 is described. This arm-specific painting technique was used to analyze the chromosomes of two patients who displayed different clinical pictures. One patient had clinical features consistent with tetrasomy 18p, and the other patient had some of the clinical features associated with tri-somy 18. The initial karyotype of both patients showed the presence of a small metacentric marker chromosome, thought to resemble an iso(18p). This interpretation of the karyotype was confirmed for both cases using a specific chromosome arm-painting strategy. While whole-chromosome paints may identify the origin of markers or detect translocations, arm-specific libraries will permit detailed analysis of chromosomal rearrangements when more precise information may be needed.
Cytogenetic analysis of triploid renal carcinoma in Rana pipiens
Authors: Williams, III J.W. , Carlson D.L. , Gadson R.G. , Rollins-Smith L. , Williams C.S. , McKinnell R.G.
Published: May 2008

To provide a cytogenetic marker for nuclear transplantation experiments, triploid Rαnα pipiens embryos were produced. These embryos were injected with Lucké tumor herpesvirus. The chromosome profile of a renal carcinoma that developed in one of these triploid embryos was compared to the chromosomal profiles of a naturally occurring diploid renal carcinoma and a diploid renal tumor maintained as serial anterior eye chamber allografts for over 7 yr. Examination of Ag-NOR-stained chromosome spreads from the putative triploid and naturally occurring putative diploid tumor revealed the expected results. The vast majority of the chromosome spreads, 54/57 (95%) and 6/7 (86%), respectively, displayed euploid chromosome and Ag-NOR profiles: 3N = 39 with three Ag-NORs at the secondary constrictions in the long arm of chromosome 10 (10q) and 2N = 26 with two Ag-NORs in 10q. Chromosome profiles from the long-term allografted tumor were highly aneuploid (82%) and, based on their Ag-NOR content, displayed variations in their 2N, 3N, and 4N numbers. These data indicate that the majority of recently transformed triploid Lucké tumor cells can provide donor nuclei suitable for the characterization of developmental potential.
Comparison of mouse Y-chromosomal repetitive sequences isolated from Mus musculus, M. Spicilegus, and M. spretus
Authors: Nishioka Y. , Dolan B.M. , Prado V.F. , Zahed L. , Tyson H.
Published: May 2008

The mouse Y chromosome is rich in repetitive sequences. We describe a new highly male-specific BALB/c mouse sequence named 142-5. The distribution of 142-5 related sequences, which appeared to be repeated at least 100 times in the male genome of Mus musculus, was visualized on the Y chromosome by in situ hybridization. Their accumulation patterns in the genus Mus showed that the sequences evolved quickly and suggested that they might prove useful for detecting genetic differences between closely related species. To test this hypothesis, we isolated 20 additional sequences from three mouse species (M. musculus, M. spicilegus, and M. spretus) and compared their nucleotide sequences using three different computer programs. It was found that the sequences were remarkably similar but could be divided into four subgroups, and that each species had a distinct set or sets of sequences that were amplified in the Y chromosome.
Regional localization of the gene coding for human brain nitric oxide synthase (NOS1) to 12q24.2→24.31 by fluorescent in situ hybridization
Authors: Xu Weiming , Gorman Patricia , Sheer Denise , Bates Gillian , Kishimoto Jiro , Lizhi Liu , Emson Piers
Published: May 2008

The human gene for brain nitric oxide synthase (NOS1) was previously assigned to chromosome 12 by analysis of a panel of somatic cell hybrids. We report here the refinement of this localization to 12q24.2-situ hybridization
Mapping of the human spermidine synthase gene (SRM) to 1p36 and a probable pseudogene (SRML2) to region 3p14→q21
Authors: Winqvist R. , Alhonen L. , Grzeschik K.-H. , Jänne J. , Eloranta TO.
Published: May 2008

Using Southern blot analysis of panels of human podent somatic cell hybrids and chromosomal in situ hybridization, we have been able to assign human spermidine synthase DNA sequences to lp36 (SRM) and 3p14→q21 (SRML2). Present data suggest that that the former chromosomal site harbors the functional gene and the latter site only a pseudogene.
Bladder Training and Kegel Exercises for Women with Urinary Complaints Living in a Rest Home
Authors: Aslan Ergul , Komurcu Nuran , Beji Nezihe Kizilkaya , Yalcin Onay
Published: May 2008

Background: Urinary incontinence is an annoying, uncomfortable and unpleasant condition affecting the elderly. The problem of bedwetting and other urinary complaints are common in rest homes. Objective: Our study aimed to determine the efficiency of bladder training and Kegel exercises for older women living in a rest home. Methods: This is an experimental prospective research study. Through a randomization process, 25 women were included in the treatment group, and another 25 were included in the control group. Participants were living in a rest home for women aged older than 65 years with urinary complaints. The pretreatment interview form, Quality of Life Scale, Mini-Mental Test, Rankin Scale, daily urinary forms and pad tests were administered to the treatment and control groups. Bladder training and Kegel exercises were given to the treatment group for 6–8 weeks. The second evaluation was performed 8 weeks after treatment, and the last evaluation was carried out 6 months after treatment. Results: The average age of the treatment group was 78.88 ± 4.80 years, and the average age of the control group 79.44 ± 5.32 years. Urgency, frequency and nocturia were common complaints. Pretreatment, 8-week and 6-month evaluations revealed that the amount of urinary incontinence with urgency, frequency and nocturia complaints statistically and significantly decreased in the treatment group compared to the control group. In the pad test results, a statistically significant decrease was observed in the treatment group compared to the control group. A significant increase in pelvic floor strength was observed in the treatment group compared to the control group upon all evaluations. Conclusion: Behavioral therapy can be used easily as an effective treatment for urinary incontinence in elderly women living at a rest home.
Measuring genome reorganization from synteny data
Authors: Bengtsson B.O. , Klinga Levan K. , Levan G.
Published: May 2008

Two measures of the degree of genome reorganization based on synteny data are presented. The first, q, measures how far the original syntenic relationships have decayed during the separation of two taxa. The second measure, Q, is a logarithmic transformation of q, so constructed that Q increases unlimitedly while q deflects when reorganization becomes substantial. Numerical examples are given for the genomic reorganizations that have occurred during the evolution of humans, mice and rats. The degree of genome reorganization between the mouse and the rat is estimated to be about 1/5 of the degree of reorganization between humans and the rodent species.
Assignment of the human endoglin gene (END) to 9q34→qter
Authors: Fernández-Ruiz E. , St-Jacques S. , Bellón T. , Letarte M. , Bernabéu C.
Published: May 2008

Endoglin is a homodimeric membrane glycoprotein primarily associated with human vascular endothelium. It is also found on bone marrow proerythroblasts, activated monocytes and on lymphoblasts in childhood leukemia. Endoglin has recently been described as a component of the transforming growth factor-Β (TGF-Β) receptor system as it can bind TGF-Β1 with high affinity. We now report on the localization of the human endoglin gene (END) to human chromosome 9, by Southern blot analysis of BglII fragments of DNA from human-hamster somatic cell hybrids. This chromosomal localization was confirmed by fluorescent in situ hybridization coupled with Distamicin A (DA)/4’,6-diamidino-2-phenylindole (DAPI) banding on human chromosomes. The regional localization was assigned to 9q34→qter by GTG-banding (G-band-ing by trypsin using Giemsa stain), indicating a telomeric position with respect to the Philadelphia breakpoint.
Chromosomal localization of the Ox-44 (CD53) leukocyte antigen gene in man and rodents
Authors: Taguchi T. , Bellacosa A. , Zhou J.-Y. , Gilbert D.J. , Lazo P.A. , Copeland N.G. , Jenkins N.A. , Tsichlis P.N. , Testa J.R.
Published: May 2008

The Ox-44 (CD53) leukocyte antigen contributes to the transduction of CD2-generated signals in T cells and natural killer (NK) cells and has been suggested to play a role in growth regulation. The gene encoding this protein was assigned to the midportion of mouse chromosome 3 by interspecific backcross mapping and to human chromosome region 1p21→p13.3 and rat chromosome region 2q34→q41 by fluorescence in situ hybridization. Comparative mapping data presented in this report demonstrate conservation of synteny within the region encompassing this gene in mouse (Cd53), human (CD53), and rat (CD53).
Karyotype of the giant mole-rat, Cryptomys mechowi (Rodentia, Bathyergidae)
Authors: Macholán M. , Burda H. , Zima J. , Mísek I. , Kawalika M.
Published: May 2008

The karyotype of the giant mole-rat, Cryptomys mechowi (Rodentia, Bathyergidae), from Zambia was investigated in one male and one female by means of G-, C-, and AgNOR-banding techniques. The diploid chromosomal set consisted of 40 biarmed chromosomes (2n = 40, NF = 80). A pair of autosomes in the male and the X chromosomes in the female were heteromorphic. The sex chromosomes were unusually large.