bluuebunny/crossref_metadata_2025 huggingface dataset:
The kinase insert domain receptor gene (KDR) has been relocated to chromosome 4q11→q12
Authors: Sait S.N.J. , Dougher-Vermazen M. , Shows T.B. , Terman B.I.
Published: May 2008

Through in situ hybridization of a genomic DNA probe to metaphase chromosomes, we have localized the KDR gene to 4q11→q12. This is the same locus as that for two other receptor tyrosine kinases, PDGFRA and KIT. This location for DR differs from that which we previously reported using a cDNA probe. Using cDNA probes for both KDR and KIT identifies a locus at 4q31→q32 which may uncover another cluster of receptor tyrosine kinase genes.
Localization of the gene for human 11β-hydroxysteroid dehydrogenase type 2 (HSD11B2) to chromosome band 16q22
Authors: Krozowski Z. , Baker E. , Obeyesekere V. , Callen D.F.
Published: May 2008

The enzyme 11β-hydroxysteroid dehydrogenase type 2(11βHSD2) is an NAD-dependent, high-affinity isoform that potently inactivates glucocorticoids. In the present study we have used fluorescence in situ hybridization and an 11βHSD2 cDNA isolated from human kidney as probe to localize the gene encoding 11βHSD2. The gene, which has been given the symbol HSDl 1B2, maps to human chromosome band 16q22.
Molecular-cytogenetic refinement of the 12q14→q15 breakpoint region affected in uterine leiomyomas
Authors: Wanschura S. , Hennig Y. , Deichert U. , Schoenmakers E.F.P.M. , Van de Ven W.J.M. , Bartnitzke S. , Bullerdiek J.
Published: May 2008

Recent molecular and cytogenetic studies on uterine leiomyoma cell lines with aberrations in 12q14→q15 have shown that the chromosome 12 breakpoints seem to cluster in a 260-kb region designated as ULCR 12 (uterine leiomyoma cluster region of chromosome 12 breakpoints). Here we report the results of fluorescent in situ hybridization (FISH) studies using a molecular probe composed of five different cosmids that cover a 700-kb region encompassing ULCR 12. The FISH studies were performed on primary tumor specimens of uterine leiomyomas. With the exception of one case, our results demonstrated that the cosmid pool bridges the breakpoint region 12q14→q15 in primary tumors as well. In the remaining case, signal was localized distal to the breakpoint, indicating a breakpoint outside the region covered by the cosmid pool or a deletion in the region surrounding the chromosome 12 breakpoint. Individual cosmid probes from the pool were then used to narrow the localization of the breakpoint region in both the primary leiomyomas and established cell lines. The results showed that the breakpoints involving 12q14→q15 in the primary uterine leiomyomas and derived cell lines are clustered in a single 170-kb breakpoint region within ULCR 12. For three of the cell lines studied, the breakpoints map within a 40-kb segment covered by one cosmid.
Lack of isodisomy for chromosome 22 in disomic meningiomas
Authors: Blin N. , Schneider G. , Janka M. , Subke F. , Zang K.D. , Meese E.
Published: May 2008

Loss of one copy of chromosome 22 is the most prevalent chromosomal change in meningioma, indicative of a tumor suppressor on chromosome 22. Meningioma retaining both copies of chromosome 22 could possibly be explained by isodisomy for a meningioma suppressor gene. To investigate whether the chromosomal situation in meningioma is consistent with this hypothesis, we studied 53 cases, using polymorphic probes localized on chromosome 22. Loss of one copy of chromosome 22 was found in 14 cases when polymorphic DNA markers were used. Thirty-nine meningiomas studied by karyotyping and molecular probes retained both copies of chromosome 22. The majority of cases (30/39, or 77%) displayed heterozygous banding patterns, indicating the presence of heterologous copies of chromosome 22. Hence, our data provide no evidence for duplication of one parental homolog as a general mechanism in diploid meningioma.
Construction of a panel of chromosome-specific oligonucleotide probes (PRINS-primers) useful for the identification of individual human chromosomes in situ
Authors: Koch J. , Hindkjær J. , Kølvraa S. , Bolund L.
Published: May 2008

We present the sequences of a set of oligonucleotides that, when used as primers for PRimed IN Situ (PRINS) labeling, are diagnostic for repetitive sequences in specific human chromosomes. Combined, they enable identification of all human chromosomes except 6, 19, and 20. However, as is also the case with cloned centromeric hybridization probes, chromosomes 14 and 22 are stained together. Along with the sequences of these oligonucleotides we offer a simple, universal procedure for their use. We also present an oligonucleotide that binds to both strands of α-satellite DNA, making it possible to specifically amplify α-satellite DNA by PCR with this one oligonucleotide alone as primer. The origin of the α-satellite DNA in the starting material (whether somatic cell hybrids, flow-sorted chromosomes, or microdissected material) can then be determined on test metaphase spreads by in situ hybridization or PRINS with the PCR product.
Chromosomal localization of the reduced folate transporter gene (SLC19A1) in Chinese hamster ovary cells
Authors: Chan F.P.H. , Williams F.M.R. , Rogers K.A. , Flintoff W.F.
Published: May 2008

Using biotinylated genomic and cDNA probes with FISH analysis, the gene for the reduced folate transporter in Chinese hamster ovary cells (SLC19A1) has been localized to chromosome 1 and Z1 at the position q2→q3.
Relative positions of two clusters of human α-L-fucosyltransferases in 19q (FUT1–FUT2) and 19p (FUT6–FUT3–FUT5) within the microsatellite genetic map of chromosome 19
Authors: Reguigne-Arnould I. , Couillin P. , Mollicone R. , Fauré S. , Fletcher A. , Kelly R.J. , Lowe J.B. , Oriol R.
Published: May 2008

Five of the seven cloned human fucosyltransferase genes have been mapped to two clusters, one on 19q and the other on 19p. Comparative DNA sequence analysis showed the Généthon microsatellite D19S596 lies 2.2 kb downstream of the coding region of FUT1 indicating that the cluster comprising the closely linked FUT1 and FUT2 genes is located 4 cM distal to D19S412 (lod score 13.7) and 9 cM proximal to D19S571 (lod score 11.7). Polymorphic markers of FUT3, FUT5 and FUT6 were used for linkage analysis with 14 Généthon microsatellites in Indonesian families. These three loci constitute a cluster on 19p, located between the Généthon microsatellites D19S216 and D19S567, which are known to be only 1 cM distant from each other. Two cross-overs, one between FUT6 and FUT3 and the other between FUT3 and FUT5, suggest the gene order 19pter–D19S216–FUT6–FUT3–FUT5–D19S567–cen. Comparison of genetic and physical maps suggests that the FUT6-FUT3-FUT5 cluster is located on 19p13.3 and the FUT1-FUT2 cluster on 19q13.3. FUT6, FUT3 and FUT5 genes share more than 85 % homology and encode three similar, but distinct α(1,3)fucosyltransferases. FUTl and FUT2 share about 70 % homology and encode two distinct α(1,2)fucosyltransferases. No sequence homology was found between the genes of the two clusters. The members of each of these two clusters have probably emerged by duplication and divergent evolution of two unrelated ancestor genes.
A “balanced” Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome
Authors: Erickson R.P. , Hudgins L. , Stone J.F. , Schmidt S. , Wilke C. , Glover T.W.
Published: May 2008

A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The karyotype was 46, X, t(Y;16)(q11.2;q24) in 100 cells. Chromosome painting with the heterochromatic Y chromosome-specific long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZ1, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat which showed chromosomal separation of the 2 stained regions. To further localize the breakpoint, FISH was performed using individual YACs from a Y-YAC contig (Foote et al., 1992). This disclosed two YACs (yOX111 and yOX123) which hybridized to both the Y and der16 chromosomes. The YACS spanning the translocation breakpoint region were located just proximal to the Y heterochromatin boundary. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region (Ma et al., 1993) suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary (as there are near the pseudoautosomal boundary) which may include a gene involved with lymphedema which is disrupted by the translocation in this patient.
FISH on metaphase and interphase chromosomes demonstrates the physical order of the genes for GPI, CRC, and LIPE in pigs
Authors: Chowdhary B.P. , de la Sena C. , Harbitz I. , Eriksson L. , Gustavsson I.
Published: May 2008

The porcine genes for glucose phosphate isomerase (GPI), calcium release channel (CRC), and hormone-sensitive lipase (LIPE) map to the long arm of chromosome 6. Earlier studies, using fluorescence in situ hybridization (FISH), mapped the three loci to the same band, viz., 6q12. To ascertain the relative order of the three genes, we first conducted three double-color FISH experiments, cohybridizing two of the probes at a time. These experiments demonstrated that the gene order was cen-GPI-CRC-LIPE. This order was confirmed by cohybridizing the three probes to both metaphase and interphase chromosomes.
Mapping of the newly identified biliverdin-IX β reductase gene (BLVRB) to human chromosome 19q13.13→q13.2 by fluorescence in situ hybridization
Authors: Saito F. , Yamaguchi T. , Komuro A. , Tobe T. , Ikeuchi T. , Tomita M. , Nakajima H.
Published: May 2008

The human biliverdin-IX β reductase gene (BLVRB) has been newly isolated from a human liver cDNA library. We now report the chromosome mapping of this gene by fluorescence in situ hybridization, using a 0.76-kb cDNA fragment as a probe. The BLVRB gene was localized to chromosome region 19q13.13→q13.2.
Transcription patterns of sequences on human chromosome 21
Authors: Kurnit D.M. , Cheng J.-F. , Zhu Y. , Van Keuren M.L. , Jiang Y. , Pan Y.-Z. , Whitley K. , Crombez E.
Published: May 2008

The polymerase chain reaction (PCR) was used to screen embryonic, fetal and adult human cDNA libraries for transcription on chromosome 21q22.1→q22.3. Seventy-three pairs of oligonucleotide primers on chromosome 21, used previously to screen a fetal brain cDNA library, were applied to analyze 41 different cDNA libraries. Only phage eluate (and therefore no DNA isolation) was required for this sensitive screening. Sixty primer pairs were positive with at least one cDNA library, indicating that the majority of primers were derived from transcribed sequences. Even with our most complex human fetal brain cDNA library, we detected only 57% (34/60) of transcribed sequences, illustrating the need to screen multiple human cDNA libraries to determine if transcription occurred. Since only 3/73 clones were present in only one cDNA library, the vast majority of transcribed sequences are present in more than one tissue.
Eight new polymorphic microsatellites in mouse gene loci
Authors: Santos J. , Pérez de Castro I. , Herranz M. , Fernández-Piqueras J.
Published: May 2008

Eight mouse gene loci (Atp1b2, Epo, Kit, Krt2, Mor1, Ren1, Pdgfb, and Wnt1) that contain unidentified microsatellites were selected to detect simple sequence-length polymorphisms on genomic DNAs from two laboratory strains (C57BL/6J and RF/J) and strains recently derived from the Mus musculus species complex (CAST/Ei, MOLF/Ei, CZECH II, and M. m. domesticus) and from M. spretus (SPRET/Ei). All microsatellite DNA sequences varied in size among some of the seven mouse strains tested. These new polymorphisms might be useful in the search for tumor suppressor genes involved in specific cancers.
Mapping of the immune interferon gamma gene (IFNG) to chromosome band 12q14 by fluorescence in situ hybridization
Authors: Zimonjic D.B. , Rezanka L.J. , Evans C.H. , Polymeropoulos M.H. , Trent J.M. , Popescu N.C.
Published: May 2008

The human immune interferon gamma gene (IFNG) was localized to chromosome band 12q14 by fluorescence in situ hybridization. This correction of a previous localization resolves the discrepancy between the syntenic maps of human chromosome 12 and mouse chromosome 10 and facilitates linkage analysis and identification of gene interactions near this region of chromosome 12 as well as further genetic studies of interferon-gamma immune-associated diseases.
Human endogenous retroviral element k10 (HERV-K10): chromosomal localization by somatic hybrid mapping and fluorescence in situ hybridization
Authors: Meese E. , Göttert E. , Zang K.D. , Sauter M. , Schommer S. , Mueller-Lantzsch N.
Published: May 2008

The human endogenous retrovirus K10 (HERV-K10) was mapped to human chromosomes using HERV-K10 specific PCR primers on a somatic hybrid mapping panel. A non-random chromosomal location was demonstrated with PCR signals on chromosomes 1, 3, 4, 5, 6, 7, 10, 11, 12, 14 ,15, 19, 20, 21 22 and Y. There was a lack of PCR products on the other chromosomes, even after hybridization with a HERV-K10 specific probe. To further localize the HERV-K10 sequence we used fluorescence in situ hybridization. Chromosomes 1, 3, 6, 7, 10, 11, 12 and 22 were found to contain several HERV-K10 sequences in different regions. The presence of several integration sites on some chromosomes is consistent with previous studies demonstrating 30–50 copies of the HERV-K10 sequence per haploid genome. The mapping information reported in this study will assist the analysis of the biological significance of the HERV-K10 sequence.
Localization by fluorescence in situ hybridization of the human functional β-glucuronidase gene (GUSB) to 7q11.21→q11.22 and two pseudogenes to 5p13 and 5q13
Authors: Speleman F. , Vervoort R. , Van Roy N. , Liebaers I. , Sly W.S. , Lissens W.
Published: May 2008

The gene coding for human β-glucuronidase (GUSB) was mapped to 7q11.21→q11.22 by fluorescence in situ hybridization (FISH), thus clarifying the contradictory published localizations of this gene. Multiple unprocessed pseudogenes and pseudogene fragments for GUSB have been described. However, only two weak signals, one at chromosome band 5p13 and the other at 5q13, could be detected with FISH, suggesting considerable divergence between GUSB and its related sequences.
Sperm segregants from the murine Rb(11.14) heterozygote fertilizing in vivo and in vitro
Authors: Corkery B.M. , Martin-DeLeon P.A.
Published: May 2008

Segregants of the Rb(11.14) translocation in 17 heterozygous male mice were analyzed in G- and C-banded first-cleavage metaphases after in vivo (n = 440) and in vitro (n = 267) fertilization. Mating intervals of 3 and 14 d provided unaged and physiologically aged sperm for the oocytes, which were from chromosomally normal females. Significantly more normal than balanced sperm segregants were seen in both the in vivo fertilized (P < 0.01) and in vitro fertilized (P < 0.001 study groups. The distortion was elevated in vitro (P < 0.02), unaccompanied by a sex-ratio distortion, and had a segregant distribution that was independent of sperm age; thus it differs from that seen for other translocations. The findings argue for chromosome-specific effects of Robertsonian translocations on sperm function. A significantly (P < 0.05) increased hyperhaploidy rate (unrelated to the translocation) supports the sperm-aging hypothesis.
A 3.1-Mb YAC contig within the Werner syndrome region, on the short arm of human chromosome 8
Authors: Chaffanet M. , Imbert A. , Adélaïde J. , Le Paslier D. , Wagner M.J. , Wells D.E. , Birnbaum D. , Pébusque M.-J.
Published: May 2008

The locus for Werner syndrome (WRN) has been localized to human chromosome 8p21→p 12, close to the anonymous marker D8S339. A 3.1-Mb contig of yeast artificial chromosomes (YACs) was assembled around D8S339. Results from analyses of somatic cell hybrids, FISH, and physical mapping suggest the following loci order: tel-NEFL-D8S131-D8S339-[D8S540/GSR]-D8S124-D8S259-D8S87-FGFRl-cen. Close physical linkage between D8S540 and GSR was established within a DNA fragment of 200 kb. These two loci are not more than 400 kb from D8S339. In addition, D8S339, D8S540, D8S124, and GSR are within 1.1 Mb. These data establish a primary physical map of the Werner syndrome region and identify useful YAC clones for the isolation of new markers and of the corresponding gene.
Regional assignment of EST sequences on human chromosome 13
Authors: Hawthorn L.A. , Cowell J.K.
Published: May 2008

We have used a panel of somatic cell hybrids carrying structural rearrangements of human chromosome 13 to regionally localise 10 expressed sequence tags (ESTs) from this chromosome. Three of these genes were not present in the somatic cell hybrid PGME, which contains chromosome 13 as its major human component. Using a panel of somatic cell hybrids, two of these genes were localised to chromosome 8 and one to chromosome 16. Using the PCR primers as published, it was impossible to map one EST; consequently, a YAC containing this gene was isolated, and fluorescence in situ hybridisation was used to map the gene to 13q14. The distribution of the remaining six chromosome 13-specific ESTs was nonrandom; one mapped to 13q14 and the remaining five to 13q12, with three mapping within the proximal portion and two mapping within the distal portion of this region.
The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2
Authors: Koyama K. , Fukushima Y. , Inazawa J. , Tomotsune D. , Takahashi N. , Nakamura Y.
Published: May 2008

We have isolated and characterized the human homologue of the murine Llglh gene, which was originally isolated as a homologue of a Drosophila tumor suppressor gene l(2)gl (lethal(2) giant larvae). In the mouse, Llglh is thought to play an important role during brain development as a regulatory target of Hoxc8. The human homologue of Llglh (LLGL) encodes a protein consisting of 1,033 amino acids. This gene was mapped by fluorescence in situ hybridization (FISH) to human chromosome 17p11.2, a region that is typically deleted in patients with Smith-Magenis syndrome (SMS). In our FISH analysis of metaphase chromosomes of four SMS patients, a probe representing LLGL failed in each case to hybridize to one of the two chromosome 17 homologues, indicating that this gene may play a role in the pathogenesis of SMS.
Cloning, expression, and mapping of UBE2I, a novel gene encoding a human homologue of yeast ubiquitin-conjugating enzymes which are critical for regulating the cell cycle
Authors: Watanabe T.K. , Fujiwara T. , Kawai A. , Shimizu F. , Takami S. , Hirano H. , Okuno S. , Ozaki K. , Takeda S. , Shimada Y. , Nagata M. , Takaichi A. , Takahashi E. , Nakamura Y. , Shin S.
Published: May 2008

From a human fetal-brain cDNA library we isolated a novel gene sharing significant homology with two yeast genes, UBC9 and hus5, which encode ubiquitin-conjugating enzyme 9 (UBC9). In yeast this protein is critical for normal mitosis, and seems to be closely involved in progression of G2 to M phase of the cell cycle. The human-UBC9 (h-UBC9) cDNA, (gene symbol UBE2I), contained an open reading frame of 474 nucleotides encoding 158 amino acids. Its predicted peptide showed respectively 56% and 66% identity (75% and 82% similarity) with the products of UBC9 and hus5. Northern-blot analysis revealed expression of three transcripts, 6.4 kb, 3.3 kb, and 1.35 kb, in all human tissues examined. This gene, UBE2I, was mapped to chromosome band 16p13.3 by FISH.
The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridization
Authors: Leppig K.A. , Viskochil D. , Neil S. , Rubenstein A. , Johnson V.P. , Zhu X.L. , Brothman A.R. , Stephens K.
Published: May 2008

Neurofibromatosis type 1 (NFl) is a common genetic disorder characterized primarily by the development of multiple neurofibromas and pigmentary changes. The recent identification of contiguous gene deletions in NF1 a previously unrecognized molecular basis for this disorder, raises important questions regarding deletion frequency in the patient population and the role that contiguous genes may play in the physical manifestations of NF1 patients. To facilitate the identification of patients with large NFl deletions, we have isolated clones carrying large genomic segments from the NF1 locus and tested their efficacy as probes for fluorescence in situ hybridization (FISH). Clone P1-9 spans approximately 65 kb of the NFl gene, including exons 2–11, and clone P1-12 carries ∼55 kb of NFl intron 27B. FISH studies performed with P1-9, P1-12, and a set of overlapping 1F10 cosmid clones mapping telomeric to the NF1 locus identified large deletions in two new neurofibromatosis type 1 patients who, like previously characterized deletion patients, had mildly dysmorphic facial features and large numbers of cutaneous neurofibromas.
Tandem 1;30 translocation: a new structural abnormality in the horse (Equus caballus)
Authors: Long S.E.
Published: May 2008

A 1;30 tandem translocation was found in an 8-yr-old thoroughbred stallion referred because of reduced fertility. The diagnosis was confirmed by GTG and CBG staining. This is the first report of a tandem translocation in the horse.
Close linkage between RNR and GPD genes on the tammar wallaby (Macropus eugenii) X chromosome
Authors: McKenzie L.M. , Johnston P.G. , Eldridge M.D.B. , Cooper D.W.
Published: May 2008

No recombination was detected between two X-linked loci, RNR (Xp) and GPD (Xq), among 69 backcross progeny of two distantly related tammar wallaby (Macropus eugenii) subspecies. RNR loci are not dosage compensated, whereas the GPD locus is subject to the paternal X chromosome inactivation system that characterises female marsupials. The border of the region controlled by the marsupial X chromosome inactivation system has therefore been shown to lie between RNR and GPD.
Metaphase and interphase mapping by FISH: improvement of chromosome banding and signal resolution in interphase nuclei by means of iterative deconvolution
Authors: Monier K. , Usson Y. , Mongelard F. , Szepetowski P. , Robert-Nicoud M. , Vourc’h C.
Published: May 2008

FISH images obtained with conventional epifluorescence microscopes are always blurred by glare and out of focus light emissions. In order to restore high contrast images, a procedure based on a modelling of the optical system in the microscope was developed and used for the processing of images acquired with a cooled CCD camera mounted on a fluorescence microscope. This procedure was tested on images of both mouse and human chromosomes stained with DAPI and on images of interphase nuclei hybridized with pairs of cosmid probes. This method improves the definition and the sharpness of the DAPI G-banding and thus facilitates and speeds up the identification of chromosomes. When performed on images of interphase cell nuclei, this procedure allows the discrimination of fluorescent signals which appear partially overlapping on raw images. This significant improvement of spatial resolution is of particular interest for ordering sets of probes on DNA fibers.
Regional mapping of the human platelet-activating factor receptor gene (PTAFR) to 1p35→p34.3 by fluorescence in situ hybridization
Authors: Chase P.B. , Yang J.-M. , Thompson F.H. , Halonen M. , Regan J.W.
Published: May 2008

The human platelet-activating factor cell-surface receptor (PTAFR) is a G protein-coupled receptor thought to contribute to many atopic and inflammatory diseases and, perhaps, to the growth of some neoplasms. Exploring the possibility that the PTAFR might be involved in the genetic predisposition to any disease requires knowledge of its chromosomal localization. In this paper we have used a 20-kb human genomic fragment containing the coding sequence of the cloned PTAFR to determine the regional chromosomal localization of the gene. Using fluorescence in situ hybridization, the localization of the human PTAFR gene was mapped to 1p35→p34.3.
A complex satellite DNA polymorphism flanking the human ryanodine receptor gene (RYR1)
Authors: Wolz W. , Wendelmuth U. , Rouquier S. , Giorgi D. , Müller CR.
Published: May 2008

We describe a new highly polymorphic DNA marker flanking the human ryanodine receptor gene (RYR1) at chromosome band 19ql3.1. The marker is composed of a 25-bp minisatellite sequence, a compound microsatellite (AC)(AT), and an oligo-T stretch. STS mapping of previously published markers from 19q13.1 helped to integrate the genetic and physical maps of this region. Together with D19S422, the new polymorphism forms a pair of markers closely flanking either side of the RYR1 gene which may be useful for linkage studies in families susceptible to malignant hyperthermia and central core disease.
Assignment of the human GATA4 gene to 8p23.1→p22 using fluorescence in situ hybridization analysis
Authors: Huang W.-Y. , Heng H.H.Q. , Liew C.-C.
Published: May 2008

Using fluorescence in situ hybridization, the human GATA4 gene, a member of the zinc-finger protein family recognizing the consensus GATA motif, was mapped to 8p23.1→p22. This result, in conjunction with gene mapping data on other GATA-DNA binding proteins, suggests that genes encoding GATA-DNA binding proteins are dispersed throughout the genome, rather than clustered within a single locus.
Ordering of polymorphic markers in the chromosome region 3p21
Authors: van den Berg A. , Kooy R.F. , Hulsbeek M.M.F. , de Jong D. , Kok K. , van der Veen A.Y. , Buys C.H.C.M.
Published: May 2008

Starting from five markers, with a well-defined order from distal to proximal 3p21 nine other markers could be inserted in this 3p21 map. Five were precisely mapped genetically. The other markers were ordered by FISH and/or deletion hybrid mapping. The overall 3p21 order from distal to proximal is as follows: D3S1298-D3S1260-(D3S966, D3S1448 (= D3S1449))-D3S1029-D3S32-D3S643-D3F15S2-D3S2968-D3S1235-D3S1289-D3S1447-D3S1295.
The ETV6, CDKN1B and D12S178 loci are involved in a segment commonly deleted in various 12p aberrations in different hematological malignancies
Authors: Wlodarska I. , Marynen P. , La Starza R. , Mecucci C. , Van den Berghe H.
Published: May 2008

Structural rearrangements including deletions of the short arm of chromosome 12 are frequent cytogenetic findings in various hematologic malignant disorders. Using FISH with a panel of DNA probes we detected loss of a common region of 12p in 22 patients with different hematologic disorders. Nine of them were characterized cytogenetically by a del(12p), seven by unbalanced translocations, and in the remaining cases the loss of the 12p region was masked by translocations and insertions, adding extra material to the short arm of chromosome 12. The smallest commonly deleted region found in all cases analyzed included ETV6, the gene for p27kip1 (CDKN1B), and the D12S178 marker.
Assignment of the human gene (GLCLR) that encodes the regulatory subunit of γ-glutamylcysteine synthetase to chromosome 1p21
Authors: Sierra-Rivera E. , Dasouki M. , Summar M.L. , Krishnamani M.R.S. , Meredith M. , Rao P.N. , Phillips III J.A. , Freeman M.L
Published: May 2008

We recently assigned the human gene (GLCLC) that encodes the catalytic subunit of γ-glutamylcysteine synthetase (glutamate-cysteine ligase, E.C. 6.3.2.2) to human chromosome 6p12. Here we specify the chromosomal sublocalization of the human gene (GLCLR) that encodes the regulatory subunit of E.C. 6.3.2.2 to chromosome lp21.
Notch Signaling Regulates Platelet-Derived Growth Factor Receptor-β Expression in Vascular Smooth Muscle Cells
Authors: Jin Shaobo , Hansson Emil M. , Tikka Saara , Lanner Fredrik , Sahlgren Cecilia , Farnebo Filip , Baumann Marc , Kalimo Hannu , Lendahl Urban
Published: May 2008

Notch signaling is critically important for proper architecture of the vascular system, and mutations in NOTCH3 are associated with CADASIL, a stroke and dementia syndrome with vascular smooth muscle cell (VSMC) dysfunction. In this report, we link Notch signaling to platelet-derived growth factor (PDGF) signaling, a key determinant of VSMC biology, and show that PDGF receptor (
PDGFR
)-β is a novel immediate Notch target gene.
PDGFR
-β expression was upregulated by Notch ligand induction or by activated forms of the Notch receptor. Moreover, upregulation of
PDGFR
-β expression in response to Notch activation critically required the Notch signal integrator CSL. In primary VSMCs,
PDGFR
-β expression was robustly upregulated by Notch signaling, leading to an augmented intracellular response to PDGF stimulation. In newborn
Notch3
-deficient mice, PDGFR-β expression was strongly reduced in the VSMCs that later develop an aberrant morphology. In keeping with this, PDGFR-β upregulation in response to Notch activation was reduced also in
Notch3
-deficient embryonic stem cells. Finally, in VSMCs from a CADASIL patient carrying a NOTCH3 missense mutation, upregulation of
PDGFR
-β mRNA and protein in response to ligand-induced Notch activation was significantly reduced. In sum, these data reveal a hierarchy for 2 important signaling systems, Notch and PDGF, in the vasculature and provide insights into how dysregulated Notch signaling perturbs VSMC differentiation and function.
Deficiency of Adipose Differentiation-Related Protein Impairs Foam Cell Formation and Protects Against Atherosclerosis
Authors: Paul Antoni , Chang Benny Hung-Junn , Li Lan , Yechoor Vijay K. , Chan Lawrence
Published: May 2008

Foam cells are a hallmark of atherosclerosis. However, it is unclear whether foam cell formation per se protects against atherosclerosis or fuels it. In this study, we investigated the role of adipose differentiation-related protein (ADFP), a major lipid droplet protein (LDP), in the regulation of foam cell formation and atherosclerosis. We show that ADFP expression facilitates foam cell formation induced by modified lipoproteins in mouse macrophages in vitro. We show further that
Adfp
gene inactivation in apolipoprotein E–deficient (
ApoE
−/−
) mice reduces the number of lipid droplets in foam cells in atherosclerotic lesions and protects the mice against atherosclerosis. Moreover, transplantation of ADFP-null bone marrow-derived cells effectively attenuated atherosclerosis in
ApoE
−/−
mice. Deficiency of ADFP did not cause a detectable compensatory increase in the other PAT domain proteins in macrophages in vitro or in vivo. Mechanistically, ADFP enables the macrophage to maintain its lipid content by hindering lipid efflux. We detected no significant difference in lesion composition or in multiple parameters of inflammation in macrophages or in their phagocytic activity between mice with and without ADFP. In conclusion,
Adfp
inactivation in
ApoE
−/−
background protects against atherosclerosis and appears to be a relatively pure model of impaired foam cell formation.
Inhibition of Endothelial Nitric Oxide Synthase Activity by Proline-Rich Tyrosine Kinase 2 in Response to Fluid Shear Stress and Insulin
Authors: Fisslthaler Beate , Loot Annemarieke E. , Mohamed Annisuddin , Busse Rudi , Fleming Ingrid
Published: May 2008

In native and primary cultures of endothelial cells, fluid shear stress elicits the tyrosine phosphorylation of the endothelial NO synthase (eNOS), however, the consequences of this modification on enzyme activity are unclear. We found that fluid shear stress induces the association of eNOS with the proline-rich tyrosine kinase 2 (PYK2) in endothelial cells and that the eNOS immunoprecipitated from eNOS- and PYK2-overexpressing HEK293 cells was tyrosine-phosphorylated on Tyr657. In mouse carotid arteries, the overexpression of wild-type PYK2, but not a dominant-negative PYK2, decreased eNOS activity (≈50%), whereas in murine lung endothelial cells, the downregulation of PYK2 (small interfering RNA) increased ionomycin-induced NO production. Mutation of Tyr657 to the phosphomimetic residues aspartate (D) or glutamate (E) abolished enzyme activity, whereas a nonphosphorylatable mutant (phenylalanine [F]) showed activity comparable to the wild-type enzyme. Moreover, normal flow-induced vasodilatation was apparent in carotid arteries from eNOS
−/−
mice overexpressing either the wild-type eNOS or the Y657F mutant, whereas no flow-induced vasodilatation was apparent in arteries expressing the Y657E eNOS mutant. Insulin also activated PYK2 and stimulated eNOS in endothelial cells expressing the Y657F mutant but not wild-type eNOS. These data indicate that PYK2 mediates the tyrosine phosphorylation of eNOS on Tyr657 in response to fluid shear stress and insulin stimulation and that this modification attenuates the activity of the enzyme. The PYK2-dependent inhibition of NO production may serve to keep eNOS activity low and limit the detrimental consequences of maintained high NO output, ie, the generation of peroxynitrite.
Cell-Free Embryonic Stem Cell Extract–Mediated Derivation of Multipotent Stem Cells From NIH3T3 Fibroblasts for Functional and Anatomical Ischemic Tissue Repair
Authors: Rajasingh Johnson , Lambers Erin , Hamada Hiromichi , Bord Evelyn , Thorne Tina , Goukassian Ilona , Krishnamurthy Prasanna , Rosen Kenneth M. , Ahluwalia Deepali , Zhu Yan , Qin Gangjian , Losordo Douglas W. , Kishore Raj
Published: May 2008

The oocyte-independent source for the generation of pluripotent stem cells is among the ultimate goals in regenerative medicine. We report that on exposure to mouse embryonic stem cell (mESC) extracts, reversibly permeabilized NIH3T3 cells undergo dedifferentiation followed by stimulus-induced redifferentiation into multiple lineage cell types. Genome-wide expression profiling revealed significant differences between NIH3T3 control and ESC extract–treated NIH3T3 cells including the reactivation of ESC-specific transcripts. Epigenetically, ESC extracts induced CpG demethylation of Oct4 promoter, hyperacetylation of histones 3 and 4, and decreased lysine 9 (K-9) dimethylation of histone 3. In mouse models of surgically induced hindlimb ischemia or acute myocardial infarction transplantation of reprogrammed NIH3T3 cells significantly improved postinjury physiological functions and showed anatomic evidence of engraftment and transdifferentiation into skeletal muscle, endothelial cell, and cardiomyocytes. These data provide evidence for the generation of functional multipotent stem-like cells from terminally differentiated somatic cells without the introduction of retroviral mediated transgenes or ESC fusion.
Falls After Stroke
Authors: Kerse Ngaire , Parag Varsha , Feigin Valery L. , McNaughton Harry , Hackett Maree L. , Bennett Derrick A. , Anderson Craig S. ,   the Auckland Regional Community Stroke (ARCOS) Study Group
Published: May 2008

Background and Purpose—

Falls are an important issue in older people. We aimed to determine the incidence, circumstances, and predictors of falls in patients with recent acute stroke.

Methods—

The Auckland Regional Community Stroke (ARCOS) study was a prospective population-based stroke incidence study conducted in Auckland, New Zealand (NZ) during 2002 to 2003. Among 6-month survivors, the location and consequences of any falls were ascertained by self-report as part of a structured interview. Multivariable logistic regression was used to establish associations between risk factors and “any” and “injurious” falls.

Results—

Of 1104 stroke survivors who completed an interview, 407 (37%) reported at least 1 fall, 151 (37% of fallers, 14% of stroke survivors) sustained an injury that required medical treatment, and 31 (8% of fallers, 3% of stroke survivors) sustained a fracture. The majority of falls occurred indoors at home. Independent factors associated with falls were depressive symptoms, disability, previous falls, and older age. For injurious falls, the positively associated factors were female sex and NZ/European ethnicity and dependence before the stroke, whereas higher levels of activity and normal cognition were negatively associated factors.

Conclusions—

Falls are common after stroke, and their predictive factors are similar to those for older people in general. Falls prevention programs require implementation in stroke services.
Legal Codes and Contemporary Fatawa: Muslim Women and Contesting Paradigms
Authors: Abul-Magd Zeinab , Freyer Stowasser Barbara
Published: May 2008

In this paper we wish to explore the legal notion of the family in contemporary legal codes and fatwa literature, and how it differs from legal stipulations regarding the nature and purpose of the marriage contract in the pre-modern Sunni fiqh. We are pursuing this brief comparative study by focusing on the issue of tahlil marriage as a legal construct that all of the four classical Sunni madhahib (law schools) did embrace, even though at least one of them tried to restrict its validity. By contrast, its role in the modern family codes is that of an awkward relic of the past, and some modern muftis in their fatwas even attempt to get away from it altogether.
Socio-environmental Marketing in Developing Nations
Authors: Oly Ndubisi Nelson
Published: May 2008

Socio-environmental marketing practices have increased drastically in the last decade following the rising environmental consciousness worldwide. This research examines landscaping adoption by organizations in two developing countries in Asia and Africa (namely Malaysia and Nigeria), and the key dimensions of facilitators of adoption. Factor and discriminant analyses were conducted on the data collected from these organizations. The findings of the research are that economic climate, governmental intervention, competitive development, public scrutiny, favourable management attitude and intention, relative advantage, compatibility and ease of use are important factors of socio-environmental marketing adoption by the participating firms.
Values Enactment in Organizations: A Multi-Level Examination
Authors: Gruys Melissa L. , Stewart Susan M. , Goodstein Jerry , Bing Mark N. , Wicks Andrew C.
Published: May 2008

Business writers and practitioners recommend that core organizational values be integrated into employee work life for enhanced organizational productivity, yet no published studies have empirically examined the antecedents and outcomes of values enactment. Using longitudinal data on 2,622 employees, hierarchical linear modeling (HLM) results revealed that tenure and department-level values enactment were significant predictors of individual values enactment. Furthermore, employees who demonstrated high levels of values enactment were less likely to leave, and employees of high or low levels of values enactment in departments whose levels of values enactment matched their own were the most likely to be promoted.
The Quai Branly Museum
Authors: Thomas Dominic
Published: May 2008

The Parisian landscape was repeatedly altered during the second half of the twentieth century by various presidential `grands projets' or `grands travaux', most notably the Grande Arche of La Défense, the Bastille Opera, and the Institut du Monde Arabe. In June 2006, during Jacques Chirac's final months in office, the latest of these projects (and the first of the twenty-first century) was inaugurated, namely the Musée Quai Branly. This museum, dedicated to the arts and civilisations of Africa, Asia, Oceania and the Americas, has triggered discussion in a broad interdisciplinary context. This essay endeavours to contextualise these debates and accordingly to provide a more nuanced understanding of contemporary France as it confronts its position, status and role according to the coordinates of an increasingly globalised world.
“Your Elephant on Our Land”
Authors: Metcalfe Simon , Kepe Thembela
Published: May 2008

Landscape connectivity that allows for wildlife mobility requires governance across a tenurial mosaic of managerial units based on reconciliation of social, economic, and ecological objectives. The proposed Kavango-Zambezi (KAZA) Transfrontier Conservation Area (TFCA), which includes Angola, Botswana, Namibia, Zimbabwe, and Zambia, features a spectacular display of mega fauna and a number of tourist attractions such as the Victoria Falls. However, Zambian communal area landholders, who are affected by the TFCA, presently lack sufficient incentives to accommodate the wildlife costs, especially those related to elephants. This article, which is based on long-term observation and recent field research (2005-2007), explores the dynamics of establishing wildlife corridors on Zambian communal land, through an improved communal-state-private sector partnership based on an experimental communal land reform process that addresses social and ecological issues. These issues are discussed using case studies of some chiefdoms on the Zambian side of the Kavango-Zambezi Transfrontier Conservation Area. The paper recommends Zambian policy reform that might address the social, economic, and ecological challenges, with particular reference to elephants, and move the prevailing situation where ordinary rural residents are disempowered relative to the state, traditional leaders, and the private sector.
Optimum Parametric Studies on Tuned Rotary-Mass Damper
Authors: Obata Morio , Shimazaki Yoji
Published: May 2008

We suggest a new passive type vibration control system, tuned rotary-mass damper (TRMD), which consists of the rolling mass (rotary-mass) and the container (outer shell) allowing the free movement of the mass along its inner arc. This TRMD has a simple construction and is applicable to the structure. The tuning of TRMD can be made by adjusting the diameter of the rotary-mass and the curvature of inside the outer shell. To determine the optimum tuning and damping ratio for a linear system of TRMD, a design technique of tuned mass damper is applied. The frequency response analysis is also performed to the nonlinear system of TRMD. It was found that the response magnification factor of the structure-TRMD system showed a strong dependency on the external strength ratio, and can be reduced by designing TRMD against the targeted external strength ratio.
Experimental and Analytical Study of a Steel-concrete Bridge
Authors: Morassi Antonino , Tonon Stefano
Published: May 2008

This article is an experimental-analytical investigation of the structural behavior of a two-span steel-concrete bridge. The use of mixed experimental data coming from both static and dynamic testing has proved crucial for the identification of an accurate finite element model of the bridge and for a full understanding of its structural behavior. In addition, the results suggest that, in order to avoid the indeterminacy that frequently affects structural identification problems, it is useful to consider all the known a piori information on the system and carefully select the parameters to be identified.
Truncation in CCND1 mRNA alters miR-16-1 regulation in mantle cell lymphoma
Authors: Chen Robert W. , Bemis Lynne T. , Amato Carol M. , Myint Han , Tran Hung , Birks Diane K. , Eckhardt S. Gail , Robinson William A.
Published: May 2008

Cyclin D1 (CCND1) is a well-known regulator of cell-cycle progression. It is overexpressed in several types of cancer including breast, lung, squamous, neuroblastoma, and lymphomas. The most well-known mechanism of overexpression is the t(11;14)(q13;q32) translocation found in mantle cell lymphoma (MCL). It has previously been shown that truncated CCND1 mRNA in MCL correlates with poor prognosis. We hypothesized that truncations of the CCND1 mRNA alter its ability to be down-regulated by microRNAs in MCL. MicroRNAs are a new class of abundant small RNAs that play important regulatory roles at the posttranscriptional level by binding to the 3′ untranslated region (UTR) of mRNAs blocking either their translation or initiating their degradation. In this study, we have identified the truncation in CCND1 mRNA in MCL cell lines. We also found that truncated CCND1 mRNA leads to increased CCND1 protein expression and increased S-phase cell fraction. Furthermore, we demonstrated that this truncation alters miR-16-1 binding sites, and through the use of reporter constructs, we were able to show that miR-16-1 regulates CCND1 mRNA expression. This study introduces the role of miR-16-1 in the regulation of CCND1 in MCL.
Pulmonary cryptococcosis induces chitinase in the rat
Authors: Vicencio Alfin G , Narain Swati , Du Zhongfang , Zeng Wang Yong , Ritch James , Casadevall Arturo , Goldman David L
Published: May 2008

Background

We previously demonstrated that chronic pulmonary infection with Cryptococcus neoformans results in enhanced allergic inflammation and airway hyperreactivity in a rat model. Because the cell wall of C. neoformans consists of chitin, and since acidic mammalian chitinase (AMCase) has recently been implicated as a novel mediator of asthma, we sought to determine whether such infection induces chitinase activity and expression of AMCase in the rat.

Methods

We utilized a previously-established model of chronic C. neoformans pulmonary infection in the rat to analyze the activity, expression and localization of AMCase.

Results

Our studies indicate that intratracheal inoculation of C. neoformans induces chitinase activity within the lung and bronchoalveolar lavage fluid of infected rats. Chitinase activity is also elicited by pulmonary infection with other fungi (e.g. C. albicans), but not by the inoculation of dead organisms. Enhanced chitinase activity reflects increased AMCase expression by airway epithelial cells and alveolar macrophages. Systemic cryptococcosis is not associated with increased pulmonary chitinase activity or AMCase expression.

Conclusion

Our findings indicate a possible link between respiratory fungal infections, including C. neoformans, and asthma through the induction of AMCase.
Complementation of a phycocyanin-bilin lyase from Synechocystis sp. PCC 6803 with a nucleomorph-encoded open reading frame from the cryptophyte Guillardia theta
Authors: Bolte Kathrin , Kawach Oliver , Prechtl Julia , Gruenheit Nicole , Nyalwidhe Julius , Maier Uwe-G
Published: May 2008

Background

Cryptophytes are highly compartmentalized organisms, expressing a secondary minimized eukaryotic genome in the nucleomorph and its surrounding remnant cytoplasm, in addition to the cell nucleus, the mitochondrion and the plastid. Because the members of the nucleomorph-encoded proteome may contribute to essential cellular pathways, elucidating nucleomorph-encoded functions is of utmost interest. Unfortunately, cryptophytes are inaccessible for genetic transformations thus far. Therefore the functions of nucleomorph-encoded proteins must be elucidated indirectly by application of methods in genetically accessible organisms.

Results

Orf222, one of the uncharacterized nucleomorph-specific open reading frames of the cryptophyte Guillardia theta, shows homology to slr1649 of Synechocystis sp. PCC 6803. Recently a further homolog from Synechococcus sp. PCC 7002 was characterized to encode a phycocyanin-β155-bilin lyase. Here we show by insertion mutagenesis that the Synechocystis sp. PCC 6803 slr1649-encoded protein also acts as a bilin lyase, and additionally contributes to linker attachment and/or stability of phycobilisomes. Finally, our results indicate that the phycocyanin-β155-bilin lyase of Synechocystis sp. PCC 6803 can be complemented in vivo by the nucleomorph-encoded open reading frame orf222.

Conclusion

Our data show that the loss of phycocyanin-lyase function causes pleiotropic effects in Synechocystis sp. PCC 6803 and indicate that after separating from a common ancestor protein, the phycoerythrin lyase from Guillardia theta has retained its capacity to couple a bilin group to other phycobiliproteins. This is a further, unexpected example of the universality of phycobiliprotein lyases.