bluuebunny/crossref_metadata_2025 huggingface dataset:
Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2
Authors: Fon E.A. , Demczuk S. , Delattre O. , Thomas G. , Rouleau G.A.
Published: May 2008

Adenylosuccinate lyase (ADSL) is an essential enzyme involved in de novo purine biosynthesis. A deficiency in ADSL in humans has been shown to predispose to a neuro-developmental syndrome with autistic features. Using both a somatic cell hybrid mapping panel and fluorescence in situ hybridization, we have precisely localized the human ADSL gene to chromosome 22q13.1→q13.2.
Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome
Authors: Yoshiura K. , Tamura T. , Hong H.-S. , Ohta T. , Soejima H. , Kishino T. , Jinno Y. , Niikawa N.
Published: May 2008

Fifteen cosmids containing sequences from the human bone moΦhogenetic protein 1 gene (BMPl) were isolated from a cosmid library. The probe was a 483-bp DNA obtained by the reverse transcriptase-PCR method using primers designed according to the reported BMP 1 sequence. When the positive cosmids were tested for chromosome fluorescence in situ hybridization, all showed signals at 8p21. The results indicated that BMPl is not responsible for Langer-Giedion syndrome, whose putative gene has been assigned to 8q24.
Isolation and characterization of somatic cell hybrids with breakpoints spanning 17q22→q24
Authors: Flejter WL. , Watkins M. , Abel K.J. , Chandrasekharappa S.C. , Weber B.L. , Collins F.S. , Glover T.W.
Published: May 2008

Somatic cell hybrid mapping panels have previously been constructed to assist in the regional assignment of anonymous DNA probes and cloned genes to human chromosome 17. While a substantial number of hybrids are available that subdivide the short arm of this chromosome and the proximal portion of its long arm into specific regions, relatively few exist with breakpoints in the distal portion of the long arm. To increase the resolution of this region, four additional human × rodent somatic cell hybrids have been constructed that include breakpoints spanning the region 17q22→q24. Hybrid clones carrying the long-arm derivative of chromosome 17 were initially identified by fluorescence in situ hybridization. Hybrids were subsequently screened using the polymerase chain reaction with primer sets representing DNA markers previously mapped to chromosome 17. These hybrids expand the existing somatic cell hybrid panel for the distal portion of the long arm of chromosome 17.
Localization of the γ-subunit of the skeletal muscle L-type voltage-dependent calcium channel gene (CACNLG) to human chromosome band 17q24 by in situ hybridization and identification of a polymorphic repetitive DNA sequence at the gene locus
Authors: Iles D.E. , Segers B. , Olde Weghuis D. , Suikerbuijk R. , Wieringa B.
Published: May 2008

The skeletal muscle dihydropyridine receptor consists of five subunits and fulfils an essential role in excitation-contraction coupling. A genomic clone for the human Γ subunit was used to map the gene (CACNLG) to chromosome band 17q24 by in situ hybridization. Contained within the gene is a 416-bp polymorphic repetitive DNA element that is potentially useful as a genetic marker.
Localization of indoleamine 2,3-dioxygenase gene (INDO) to chromosome 8p12→p11 by fluorescent in situ hybridization
Authors: Najfeld V. , Menninger J. , Muhleman D. , Comings D.E. , Gupta S.L.
Published: May 2008

Indolamine 2,3-dioxygenase and tryptophan 2,3-dioxygenase are two enzymes that degrade tryptophan to N-formylkynurenine. The gene (TD02) for tryptophane 2,3-dioxygenase has been localized to 4q31→32. We now report localization of INDO (the gene encoding indolamine 2,3-dioxygenase) by fluorescent in situ hybridization to 8p12→p11.
Ordering of probes surrounding the Ewing's sarcoma breakpoint on chromosome 22 using fluorescent in situ hybridization to interphase nuclei
Authors: Shipley J.M. , Jones T.A. , Patel K. , Kiely F.M. , De Stavola B.L. , Sheer D.
Published: May 2008

Eight probes were localized by fluorescent in situ hybridization to the region surrounding the Ewing’s sarcoma breakpoint on chromosome 22. Three of these were initially ordered by pair-wise hybridization to metaphase chromosomes with differential detection of the probes. These and the remaining probes were then ordered by hybridizing two or three probes simultaneously to interphase nuclei. In the two probe experiments and some of the three probe experiments, the order was derived by comparing mean interphase distances between signals from the probes. In the three probe experiments, either two probes were detected with one fluorochrome and the third with another or all three probes were individually distinguished by detecting one probe with fluorescein isothiocyanate (FITC), one with Texas Red, and one with both fluoro-chromes to give a mixed color. The order of the signals was then noted. Greater than 60 percent of configurations with a discrete order were shown or deduced to be correct. These approaches are assessed and we demonstrate a more obvious predominating order when all three probes are differentially detected. The order of the probes was deduced to be centromere: D22S271: D22S260: ΛSl: D22S262: cosKI831: Ewing’s sarcoma breakpoint: cosLIF: D22S261: ΛS15: telomere.
Tandem linkage of genes coding for leukemia inhibitory factor (LIF) and oncostatin M (OSM) on human chromosome 22
Authors: Giovannini M. , Djabali M. , McElligott D. , Selleri L. , Evans G.A.
Published: May 2008

Leukemia-inhibitory factor (LIF) and oncostatin M (OSM) are members of a family of structurally similar growth factors presenting overlapping and specific functions. Although the genes coding for IL-6, CSF3 and CNTF are scattered in the human and mouse genome, human LIF and OSM genes have conserved synteny in the course of evolution. Through isolation of a YAC and a cosmid clone containing both LIF and OSM we demonstrate that the two genes are linked in tandem on human chromosome 22q12, separated by 16 kilobases of intervening genomic DNA and transcribed in the same head-to-tail orientation. The close physical linkage between LIF and OSM genes brings new evidence of their evolutionary relationship.
Localization of four new markers to pig chromosomes 1, 6, and 14 by radioactive in situ hybridization
Authors: Mellink C.H.M. , Lahbib-Mansais Y. , Yerle M. , Gellin J.
Published: May 2008

The genes coding for glucose regulated protein, 78kDal (GRP78), hormone-sensitive lipase (LIPE), plasminogen activator or urokinase (PLAU), and D-amino acid oxidase (DAO) were localized in the pig by radioactive in situ hybridization. GRP78 was mapped to 1q2.10→q2.13 and LIPE was localized to chromosome 6cen→q12. The genes for PLAU and DAO were both assigned to chromosome 14, in the region q2.4→q2.6 and q2.1→q2.3, respectively. The results are compared to mapping data in other mammalian species.
Sequence-independent amplification and labeling of yeast artificial chromosomes for fluorescence in situ hybridization
Authors: Bohlander S.K. , Espinosa III R. , Fernald A.A. , Rowley J.D. , Le Beau M.M. , Díaz M.O.
Published: May 2008

We have developed a method that allows reliable construction of high quality FISH probes from yeast artificial chromosomes (YACs) based on the separation of YACs by pulsed-field gel electrophoresis and a rapid sequence-independent amplification procedure (SIA). These probes can be used to localize YACs on metaphase chromosomes and also with high efficiency, in interphase nuclei.
Chromosome assignments of genes for rat ceruloplasmin (CP) and metallothionein (MT)
Authors: Miura M. , Yamada T. , Moralejo D.H. , Agui T. , Yamada J. , Serikawa T. , Matsumoto K.
Published: May 2008

Chromosome assignments of the genes for rat ceruloplasmin (CP) and metallothionein (MT) were performed by analyzing somatic cell hybrid DNAs with the polymerase chain reaction (PCR), using primers specific for rat genes. The genes for CP and MT were assigned to rat chromosomes 2 and 19, respectively.
The RB gene locates on chromosome 15 at band 15q13 in the Syrian hamster
Authors: Satoh H. , Ebert R. , Wiseman R.W. , Barrett J.C.
Published: May 2008

The retinoblastoma susceptibility gene, which encodes a nuclear phosphoprotein (Rb), plays an important role in cell-cycle progression in both normal development and tumorigenesis. Using a Syrian hamster cDNA probe homologous to the human retinoblastoma gene (RB), we have localized the gene to chromosome band 15q13 by conventional in situ hybridization.
Regional localization of 56 new human chromosome 18-specific yeast artificial chromosomes
Authors: Chang E. , Luna J. , Giacalone J. , Uyar D. , Silverman GA. , Francke U.
Published: May 2008

Fifty-six chromosome 18-specifιc yeast artificial chromosomes (YAC) were isolated from a human monochromosomal somatic cell hybrid DNA library. Fluorescence in situ hybridization revealed that the clones were evenly distributed throughout the chromosome. The clones, with an average insert size of 250 kb, cover about 18 % of the euchromatic part of chromosome 18. Of 90 STS markers tested, 17 were represented in this YAC collection. Together with our previously reported set of unique chromosome 18-specific YACs, we now have available 111 regionally mapped, essentially nonchimeric, clones that provide more than 30% coverage and form a framework for the complete physical map.
Localization of the highly polymorphic locus D19S120 to 19p13.3 by linkage
Authors: Jedlicka A.E. , Taylor E.W. , Meyers D.A. , Liu Z. , Levitt R.C.
Published: May 2008

To obtain the regional localization of a dinucleotide repeat D19S120 (formerly designated LIPE) with 7 alleles and an observed heterozygosity of 73 % (Levitt et al., 1992) we typed 40 CEPH families. Given the high heterozygosity and ease of typing, this marker represents a useful addition to the index map of chromosome 19.
Localization of the gene (RSN) coding for restin, a marker for Reed-Sternberg cells in Hodgkin’s disease, to human chromosome band 12q24.3 and YAC cloning of the locus
Authors: Hilliker C. , Delabie J. , Speleman F. , Bilbe G. , Bruggen J. , Van Leuven F. , Van den Berghe H.
Published: May 2008

A novel 160-kDa intermediate filament associated protein, named restin (Reed-Sternberg intermediate filament associated protein), is specifically expressed in the malignant cells of Hodgkin’s disease and anaplastic large cell lym-phoma (Ki-1 lymphoma). The combination of chromosomal R-banding and fluorescence in situ hybridization (FISH) with the use of two fluorescent dyes, fiuorescein isothiocyanate and propidium iodide, allowed simultaneous detection of the hybridized DNA sequence and chromosomal R-banding. By this technique, the gene coding for restin (RSN) was assigned to chromosome region 12q24.31→q24.33, while localization of the α-2-macroglobulin receptor (A2MR) was refined to 12q13.1→q13.3. To further analyze the restin gene, a 500-kb YAC clone containing the gene was isolated and analyzed. A restriction map of this area is presented.
Detection of amplified sequences at 5q11→q13 in a homogenously staining region found by fluorescent in situ hybridization in a case of B-cell non-Hodgkin’s lymphoma
Authors: Wlodarska I. , De Wolf-Peeters Ch. , Dierick H. , Hilliker C. , Thomas J. , Mecucci C. , Cassiman J.J. , Van Den Berghe H.
Published: May 2008

Gene amplification is one of the molecular mechanisms possibly involved in the initiation of tumorigenesis. Homogenously staining regions and double minutes have been shown to contain amplified DNA sequences. We report here a case of B-cell non-Hodgkin’s lymphoma (NHL) carrying an abnormal chromosome 5 with an hsr-like region at 5q11→q13. Chromosome “painting” with a chromosome 5-specific library (pBS5) showed that the amplified material was indeed derived from chromosome 5. Further identification of the amplified DNA sequences was performed with a set of YAC probes localized to 5q12→q14. The amplified region contained genetic loci defined by D5S6, D5S125, D5S112, and D5S39. A threefold level of DNA amplification was visualized by Southern blotting using a DNA probe from the amplified region. The present results suggest that unknown gene(s) at 5q11→q13 might be involved in the process of lymphomagenesis when amplification occurs.
Simple sequence repeat length polymorphisms mapped to rat chromosome 11
Authors: Du Y. , Remmers E.F. , Goldmuntz E.A. , Zha H. , Mathern P. , Crofford L.J. , Wilder R.L.
Published: May 2008

Two genes and two anonymous DNA loci were mapped to rat chromosome 11 using F2 intercross progeny of Fischer (F344/N) and Lewis (LEW/N) inbred rats. These four loci formed a single linkage group covering 21.5 cM with the following map order: somatostatin (SST)-D11N161-D11N18-cell surface protein (MOX2). These four loci were typed by PCR-based simple sequence repeat (SSR) length polymorphism detection. For each marker four to seven different alleles were detected using a panel of 13 inbred rat strains (F344/N, LEW/N, BN/SsN, BUF/N, LER/N, MR/N, MNR/N, LOU/MN, ACI/N, WBB1/N, WBB2/N, SHR/N, WKY/N). Comparative gene mapping analysis suggests syntenic conservation between rat chromosome 11 and mouse Chromosome 16.
Two simple procedures for releasing chromatin from routinely fixed cells for fluorescence in situ hybridization
Authors: Fidlerová H. , Senger G. , Kost M. , Sanseau P. , Sheer D.
Published: May 2008

We describe two methods for releasing chromatin from routinely harvested and fixed cells. Using fluorescence in situ hybridization with combinations of probes from the HLA class II region, we show that good signals can be obtained on free chromatin fibers enabling determination of relationships between closely adjacent or overlapping probes.
Chromosomal location and expression of the genes coding for Ku p70 and p80 in human cell lines and normal tissues
Authors: Cai Q.-Q. , Plet A. , Imbert J. , Lafage-Pochitaloff M. , Cerdan C. , Blanchard J.-M.
Published: May 2008

Ku protein is a relatively abundant DNA-binding nuclear protein complex composed of two polypeptide subunits, p70 and p80. Ku has been recently identified as the regulatory component of the DNA-dependent protein kinase that phosphorylates RNA polymerase II. To further characterize in vivo regulation of Ku protein, we studied the expression of the transcripts coding for the Ku p70 and p80 subunits in different human cell lines and normal tissues by Northern blot hybridization, using specific cDNA probes. The expression level of both genes was approximately 10-fold higher in established cell lines than in normal tissues. However, mRNA expression levels in permanent cell lines correlated more strongly with their proliferative state than with their level of malignant transformation. In purified T lymphocytes induced to proliferate by the combined action of monoclonal antibodies directed against the CD2 and CD28 adhesion molecules, Ku p70 and p80 mRNA steady-state levels increased as soon as 6 h after activation and lasted at least 72 h. The human genes coding for the Ku p70 and p80 subunits were localized by cytogenetic mapping, using fluorescence in situ hybridization, to 22q13 and 2q33→q35, respectively.
Seven genes on the short arm of human chromosome 3 map to two regions on Macropus eugenii (tammar wallaby) chromosome 2
Authors: Miller D.A. , Miller O.J. , Francis D. , Little P.F.R. , Graves J.A.M.
Published: May 2008

Seven genes were mapped by in situ hybridization to metaphase chromosomes of the marsupial species Macropus eugenii, using a series of human-derived cloned probes (six cosmids and one cDNA). The genes were located in two widely separated clusters on the long arm of M. eugenii chromosome 2, in contrast to their location in a single cluster on the distal half of the short arm of human chromosome 3. Multiple rearrangements had to be involved in the evolutionary divergence of these chromosome segments from the unknown arrangement in the common ancestor.
Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)
Authors: Le Guern E. , Sturtz F. , Gugenheim M. , Gouider R. , Bonnebouche C. , Ravisé N. , Gonnaud P.-M. , Tardieu S. , Bouche P. , Chazot G. , Agid Y. , Vandenberghe A. , Brice A.
Published: May 2008

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy which is characterized by recurrent episodes of truncular palsies. We have analyzed the D17S122 locus in 7 French families, including 18 affected members, with microsatellite RM11GT and the RFLP probe VAW409R3a. Only one allele could be detected in all affected individuals with the highly polymorphic RM11GT marker. Allele segregation at D17S122 showed no contribution from the affected parent to the affected child, demonstrating that an interstitial deletion within the 17p11.2 region is associated with HNPP in the 7 families studied. This same region is duplicated, however, in another inherited neuropathy, Charcot-Marie-Tooth 1A disease. This would be the first example of two dominantly inherited diseases caused by a ‘in mirror image’ deletion/duplication mechanism where a gene dosage effect would be sufficient to produce two different phenotypes characterized by abnormal myelination of the peripheral nerves. The RM11GT microsatellite is an informative tool for the molecular diagnosis of HNPP.
Identification of a marsupial OTF1 gene: Cross-species STS analysis and in situ cross-hybridization to Macropus eugenii chromosomes 3/4 and 5
Authors: Sturm R.A. , Francis D.I. , Cassady J.L. , Graves J.A.M.
Published: May 2008

The ability of the human octamer-binding transcription factor 1 (gene symbol: OTF1) sequence tagged site (STS) marker to identify cross-species gene homologues has been assessed using the marsupial Macropus eugenii genome. Two regions of sequence homology with human OTF1 have been located on M. eugenii chromosomes 3/4 and 5 by in situ hybridization. These regions are likely to represent cross-reaction with the homologues of human OTF1 and closely related OTF2 genes.
The human gene for nuclear protein BM28 (CDCL1), a new member of the early S-phase family of proteins, maps to chromosome band 3q21
Authors: Mincheva A. , Todorov I. , Werner D. , Fink T.M. , Lichter P.
Published: May 2008

BM28, a newly recognized human nuclear protein, possibly plays an important role in two crucial steps of the cell cycle e.g. the onset of DNA replication and cell division. It shows significant similarity to members of a recently defined family of early S-phase proteins. Using total plasmid DNA containing the complete coding sequence of the BM28 gene (CDCL1, for cdc-like 1) as a probe for fluorescence in situ hybridization, we have mapped the gene to chromosome band 3q21. This region is involv ed in specific structural chromosome aberrations found in acute myeloid leukemia (AML). Based on the function of BM28 and the chromosomal location of its gene, CDCL1 might prove to be a candidate for an oncogene affected by the chromosomal breaks and playing a pathogenetic role in AML.
Nonrandom inactivation of the Y-bearing X chromosome in a 46, XX individual: evidence for the etiology of 46, XX true hermaphroditism
Authors: Fechner P.Y. , Rosenberg C. , Stetten G. , Cargile C.B. , Pearson P.L. , Smith K.D. , Migeon C.J. , Berkovitz G.D.
Published: May 2008

We previously reported a subject with 46, XX true hermaphroditism who had a 46, X, del(X) karyotype and Y-chromosomal sequences in genomic DNA. We hypothesized that the Y-chromosomal sequences were translocated to the deleted X chromosome and that the incomplete testis determination of this individual was the result of inactivation of the translocated X chromosome. In situ hybridization studies demonstrated that the Y-chromosomal sequences were located on the distal portion of the short arm of the deleted X chromosome. Investigation of the replication of the X chromosome, using a modified R-banding technique and localization of Y-chromosomal sequences by in situ hybridization, showed that the translocated X chromosome was late replicating in all 100 EBV-transformed lymphoblasts that were examined. By contrast, when cells from a subject with 46, XX maleness were studied, the translocated X chromosome was late replicating in only 21 of 47 cells. As the late-replicating X chromosome is presumed to be the inactive X chromosome, selection of cells in which the Y-bearing X chromosome has been inactivated may play a role in the incomplete testis determination in subjects with “Y-positive” 46, XX true hermaphroditism.
Molecular cloning of an equine satellite-type DNA sequence and its chromosomal localization
Authors: Sakagami M. , Hirota K. , Awata T. , Yasue H.
Published: May 2008

We have molecularly cloned portions of equine satellite-type DNA and investigated the organization of the DNA sequence of the cloned segments. Sequence analysis and dot-blot analysis, using the cloned sequence (ES200) as a probe, indicate that the satellite-type DNA sequence consists mainly of 221-bp tandem repeats and represents 3.7–11% of the equine genome. Southern blot analysis further shows that (1) no sequences homologous to ES200 exist in the human, swine, and bovine genomes and that (2) the fragment pattern of the satellite-type DNA produced by Apal cleavage shows a slight difference among equine DNA samples, indicating a slight sequence variation between individual horses. To localize the satellite-type DNA in the horse genome, chromosome spreads on glass slides were first subjected to G-banding to identify each chromosome and then hybridized in situ with biotin-labeled ES200. The chromosome banding, together with the hybridization, demonstrates that the satellite sequences are preferentially localized on the centromeric regions of all chromosomes except chromosomes 2, 9, and 11.
Regional localization of loci on chromosome 14 using somatic cell hybrids
Authors: Billingsley G.D. , Cox D.W. , Duncan A.M.V. , Goodfellow P.J. , Grzeschik K.-H.
Published: May 2008

We have used a panel of human × rodent somatic cell hybrids containing translocations involving chromosome 14 to regionally localize 17 genes and 5 random segments previously mapped to chromosome 14. Each hybrid cell line contains a specific fragment of chromosome 14, with breakpoints at 14q11.2, 14q21, 14q22, 14q24.3 or in two different regions of 14q32.1. The enzyme deficient in glycogen storage disease type VI, liver glycogen phosphorylase (PYGL), has been localized by in situ hybridization to 14q21→q22, near the q21→q22 band interface. Four additional genes, chromogranin A (CHGA), myosin (MYH7), tRNA proline 2 (TRP2) and c-FOS (FOS) and four random segments, D14S26, D14S12, D14S14 and D14S13 have been more precisely localized. This study also defines a hybrid cell panel with seven mapping intervals, that will be useful for further physical mapping of new loci.
Localization of the human α-fodrin gene (SPTAN1) to 9q33→q34 by fluorescence in situ hybridization
Authors: Upender M. , Gallagher P.G. , Moon R.T. , Ward D.C. , Forget B.G.
Published: May 2008

Using fluorescence in situ hybridization, the human α-fodrin gene (nonerythroid α spectrin, SPTAN1), a member of the spectrin gene superfamily, was mapped to 9q33→q34. This locus is near the translocation breakpoint region in the Philadelphia (Ph1) chromosome, t(9;22)(q34;q11). In a human chronic myelogenous leukemia cell line with the Ph1 chromosome, K562, the α-fodrin gene mapped centromeric to the translocation breakpoint, indicating that the α-fodrin gene is not translocated to the Ph1 chromosome in this cell line.
A mouse Chromosome 11 library generated from sorted chromosomes using linker-adapter polymerase chain reaction
Authors: Miyashita K. , Vooijs M.A. , Tucker J.D. , Lee D.A. , Gray J.W. , Pallavicini M.G.
Published: May 2008

We describe the generation of a mouse whole chromosome library using sequence-independent polymerase chain reaction (PCR) to amplify sequences contained in DNA extracted from flow sorted chromosomes. DNA in sorted chromosomes from a human × mouse hybrid cell line was digested with a frequent four-cutter restriction enzyme, Sau3Al, and the ends were ligated to an adapter oligonucleotide. The ligated DNA fragments were amplified using PCR primers homologous to the linker-adapter oligonucleotide. PCR-generated products were characterized by gel electrophoresis. The size of the amplified DNA ranged from 100 to more than 1000 bp with a relatively high proportion of products at approximately 400 bp. Biotinylated PCR products used for FISH showed specific hybridization to murine metaphases and no hybridization to human lymphocyte and hamster metaphase cells. Banding analysis indicated that the probes were specific for mouse Chromosome 11. We anticipate that availability of painting probes for specific murine chromosomes will facilitate cytogenetic studies in the mouse.
High resolution mapping of the MYCN proto-oncogene at human chromosome 2p24.3 by fluorescence in situ hybridisation
Authors: Shibasaki Y.
Published: May 2008

The MYCN proto-oncogene was previously mapped to human chromosome 2p24.1 by analysis of mouse × human somatic cell hybrids and radioactive in situ hybridisation to normal human chromosomes. However, using fluorescence in situ hybridisation (FISH) and high resolution chromosome banding techniques MYCN has been reassigned to 2p24.3.
Genetic control of sex-chromosome inactivation during male meiosis
Authors: Handel M.A. , Park C. , Kot M.
Published: May 2008

During meiotic prophase in male mammals, the sex chromosomes are transcriptionally inactivated and form a condensed chromatin domain known as the sex body. It is not known how the assumption of this chromatin configuration is determined and regulated. We used various genetic models to test whether a complete sex-chromosome pair, effective sex-chromosome pairing, or an intact X chromosome is required for sex-body formation or transcription inactivation. The sex chromosome aberrations studied did not interfere with sex-body formation, and there is no evidence for inactivation failure or reactivation of the aberrant sex chromosomes. The results of this study suggest that control of sex-body formation is not intrinsic to the sex chromosomes and thus may be at the level of the testis.
The chromosomal distribution of Mus musculus-like AT-rich heterochromatin in the M. dunni complex as revealed by Alul digestion of metaphase chromosomes
Authors: Balajee A.S. , Sharma T.
Published: May 2008

In situ digestion of metaphase chromosomes with AluI revealed differences in the distribution of Mus musculus-like AT-rich heterochromatin in the complements of the Indian pygmy field mice, M. booduga and M. dunni. In M. booduga, although the banding pattern was almost comparable to that of M. musculus, AT-resistant bands were much reduced in size at the centromeric regions. In all three chromosome types of the M. dunni complex, M. musculus-like AT-rich heterochromatin was found to be confined mainly to two small segments on the short arm of the X chromosome. This AT-rich heterochromatin varied greatly in both position and quantity in the two X chromosomes. In addition to the polymorphism, a whole block of M. musculus-like AT-rich heterochromatin was found at the centromeric region of an autosome in one individual of M. dunni.
The human glutathione peroxidase genes GPX2, GPX3, and GPX4 map to chromosomes 14, 5, and 19, respectively
Authors: Chu F.-F.
Published: May 2008

cDNA probes of human glutathione peroxidase (GSHPx) genes, including the classic GPX1 (GSHPx-1), the newly characterized GPX2 (GSHPx-GI), the plasma enzyme GPX3 (GSHPx-P), and the phospholipid hydroperoxide glutathione peroxidase GPX4 (PHGPX), were hybridized to Southern blots containing genomic DNA from human × hamster somatic cell hybrids. GPX2 was mapped to chromosome 14, GPX3 to chromosome 5 and GPX4 to chromosome 19. Additionally, human chromosomes 3 and 21 and the X chromosome were shown to contain sequences homologous to GPX1, as reported previously.
The gene encoding myeloid α-3-fucosyltransferase (FUT4) is located between D11S388 and D11S919 on 11q21
Authors: Reguigne I. , James M.R. , Richard III C.W. , Mollicone R. , Seawright A. , Lowe J.B. , Oriol R. , Couillin P.
Published: May 2008

The last step in the biosynthesis of Lex antigen, the addition of a fucose to precursor polysaccharides, can be catalyzed by different α-3-fucosyltransferases. We localized the gene (FUT4) encoding myeloid α-3-fucosyltransferase by PCR assay using panels of somatic cell and radiation hybrids which retain different rearrangements of chromosome 11. FUT4 was assigned to chromosome band 11q21 between D11S388 and D11S919.
Assignment of the gene encoding the latent TGF-β1-binding protein (LTBP1) to human chromosome 2, region p12→q22
Authors: Stenman G. , Sahlin P. , Olofsson A. , Geurts van Kessel A. , Miyazono K.
Published: May 2008

Latent transforming growth factor β1-binding protein (LTBPl) is an important component of the large latent TGF-β1 complex. It plays a role in the assembly and secretion of the latent TGF-β1. In this paper we have used a cDNA probe for LTBP1 to determine the chromosomal localization of the human gene. Using a panel of well-defined human × rodent somatic cell hybrid lines, LTBP 1 could be assigned to chromosome 2. Further sublocalization of the gene to 2p12→q22 was achieved using three hybrid lines which contain partially overlapping fragments of chromosome 2.
Chromosomes are highly elastic and can be stretched
Authors: Claussen U. , Mazur A. , Rubtsov N.
Published: May 2008

Direct manipulation of human chromosomes in metaphase spreads using glass needles revealed that the consistency of chromosomes varies depending on their moisture content. Chromosomes are soft and highly elastic under wet conditions and are hard when dry. The elasticity of chromosomes is comparable to rubber threads and can be used for stretching experiments under phase contrast microscopy, after Giemsa staining, and after GTG-banding. The coiling structures of the chromosomes appear to be stretched evenly along the length of the chromosome. Chromosomes fixed for only a short time have a tendency to tear when stretched more than 5 times their length. Under the experimental conditions used, chromosomes were preferentially torn in the centromeric region. Chromosome stretching on GTG-banded human chromosomes leads to a splitting of bands into their subbands. This may be useful for creating new high resolution ideograms possibly showing more than 1700 bands per haploid set.
Assignment of the human PAX4 gene to chromosome band 7q32 by fluorescence in situ hybridization
Authors: Tamura T. , Izumikawa Y. , Kishino T. , Soejima H. , Jinno Y. , Niikawa N.
Published: May 2008

Of the nine known members of a human paired box-containing gene family (Pax), only PAX4 has not been precisely localized. We screened a cosmid library of human genomic DNA using polymerase chain reaction products for PAX4 as a probe and isolated three positive cosmid clones. Sequence analysis revealed that at least two of them had exon-like sequences and showed extensive homology to Pax-4 in the mouse. These two cosmid clones were mapped to human chromosome band 7q32 by fluorescence in situ hybridization.
Cytogenetic analysis of malformed mouse fetuses derived from balanced translocation heterozygotes
Authors: Cacheiro N.L.A. , Rutledge J.C. , Cain K.T. , Cornett C.V. , Generoso W.M.
Published: May 2008

Reciprocal translocations are readily induced by various physical and chemical mutagens in certain germ-cell stages. Carriers of balanced reciprocal translocations generally exhibit no abnormal phenotypes, except for occasional male sterility, but about half (on average) of their progeny carry grossly unbalanced chromosome complements and die prenatally, so that the carriers are said to be ‘semisterile’. Since death of such progeny generally occurs in very early embryonic stages, it would be of minor importance in an analogous human situation. Several types of unbalanced segregants, however, survive to late gestational or even to postnatal stages and are often malformed. Recently, it was determined in this laboratory that over one half of the male carriers of methylene-bisacrylamide-induced translocations, sired litters that had late-dying and/or malformed fetuses (Rutledge et al, 1990). Five high-anomaly translocation stocks derived from that study and four derived from studies with other mutagens were analyzed cytogenetically to determine (1) the chromosomes and breakpoints involved, (2) the nature of chromosome imbalance in malformed fetuses, and (3) the types of meiotic segregation that produce late-surviving unbalanced segregants. Cytogenetic analysis of the 9 translocation stocks revealed 18 breakpoints located in 12 chromosomes. Each translocation had at least one breakpoint located near the centromere or the telomere. All translocations produced abnormal fetuses that were partially monosomic for a very short terminal chromosome segment, and partially trisomic for a segment that can be of various lengths, 2–10 times as long as the monosomic segment. In 6 stocks, these abnormal fetuses arose by adjacent-1 or alternate segregation; in the other three they arose by adjacent-2 segregation. In addition, tertiary trisomy by 3–1 missegregation was also observed in two of the stocks.
Assignment of the human cytokeratin 3 gene (KRT3) to 12q12→q13 by FISH
Authors: Raimondi E. , Moralli D. , De Carli L. , Ceratto N. , Balzaretti M. , Leube R. , Collin C. , Romano V.
Published: May 2008

We used fluorescence in situ hybridization to localize the human gene for cytokeratin 3 (KJRT3), a member of the type II subfamily of cytokeratins, within the human genome. The results show that KRT3 is located within chromosome region 12q12→q13. All human type II keratin genes mapped to date have been assigned to chromosome 12, where they are likely to be organized into one homotypic cluster.
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34
Authors: Jänne P.A. , Dutra A.S. , Dracopoli N.C. , Charnas L.R. , Puck J.M. , Nussbaum R.L.
Published: May 2008

The 75-kDa (type II) inositol polyphosphate-5-phosphatase, originally described in platelets, is one of at least three known enzymes capable of dephosphorylating inositol-1,4,5-trisphosphate (IP3) to inositol-1,4-bisphosphate (IP2). To further characterize these enzymatic forms, we have mapped the gene (INPP5B) coding for the 75-kDa type II enzyme. Using a combination of human × rodent somatic cell hybrids and fluorescence in situ hybridization, we have determined that this gene maps to human chromosome band 1p34.
Localization of the cDNA for an α1-adrenergic receptor subtype (ADRA1D) to chromosome band 20p13
Authors: Yang-Feng T.L. , Han H. , Lomasney J.W. , Caron M.G.
Published: May 2008

The cDNAs encoding the α1D-adrenergic receptor (ADRAID) were localized to human chromosome 20, band p13, by somatic cell hybrid analysis and in situ hybridization.
Cytogenetic nomenclature of deer mice, Peromyscus (Rodentia): revision and review of the standardized karyotype
Authors: Greenbaum I.F. , Gunn S.J. , Smith S.A. , McAllister B.F. , Hale D.W. , Baker R.J. , Engstrom M.D. , Hamilton M.J. , Modi W.S. , Robbins L.W. , Rogers D.S. , Ward O.G. , Dawson W.D. , Elder F.F.B. , Lee M.R. , Pathak S. , Stangl, Jr. F.B.
Published: May 2008

A revision of the standardized karyotype of deer mice (Peromyscus) is presented. This revision addresses shortcomings of the original standardization, contains a substantial increase in the number of G-band markers and provides a nomenclature for the G-bands of each autosome and the X chromosome. Using the revised standardized karyotype, we specify the particular G-bands or patterns that identify each chromosome and catalog the more problematic chromosome identifications and likely misidentifications. For each chromosome, we present an overview of previously reported variation in euchromatic arrangement and heterochromatic constitution. We then review previous applications of the standardized karyotype and summarize the predominant findings from cytogenetic and cytosystematic studies of Peromyscus and related taxa.
Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization
Authors: Cannizzaro L.A. , Chen Y.Q. , Rafi M.A. , Wenger D.A.
Published: May 2008

The cDNA for human galactocerebrosidase (GALC) has recently been cloned and expressed. A portion of this cDNA was used for in situ hybridization, and the region of strongest signal corresponded to human chromosome region 14q31. This agrees with recent linkage studies that localized Krabbe disease (globoid cell leukodystrophy) to the same region. This information will be useful in future studies for mapping this gene in animal models of GALC deficiency.
Analysis of nuclear and mitochondrial DNA alterations in thyroid and renal oncocytic tumors
Authors: Tallini G. , Ladanyi M.. , Rosai J. , Jhanwar SC.
Published: May 2008

The search for mitochondrial DNA (mtDNA) defects in oncocytic neoplasms has been the subject of several recent studies. We have performed qualitative and quantitative analysis of nuclear and mitochondrial DNAs in a series of 19 renal and 12 thyroid oncocytic tumors to identify specific alterations that might predict the clinical and biological behavior of these tumors. Allelic losses were seen in 2 of 19 renal tumors and 5 of 12 thyroid tumors. Among all loci (3p, 3q, 9q, 10q, 11p, 17p, and 17q) that showed losses, losses at 10q (one renal tumor and three thyroid tumors) were significantly higher (P < 0.05) than expected. Analysis of the COX I region previously reported to be altered in oncocytomas and the delta-loop region of mtDNA showed no detectable abnormalities in the restriction pattern in 10 renal and five thyroid tumors. PCR analysis of the commonly deleted 4,977-bp region failed to detect an increased frequency of mtDNA deletions in tumors compared to the controls. In addition, segmental amplification of the complete mtDNA from a renal oncocytoma using nine sets of primers revealed no gross alteration in mtDNA. Oncocytic tumors showed a mean 5-fold increase in mitochondrial DNA, which was significant (P < 0.001) when compared to corresponding controls. The relative increase in the cellular content of mtDNA may be associated with alterations in the normal coordinated interaction between the nuclear and mitochondrial genomes. Allelic deletions at 1 Oq may be significant in the biology of oncocytic tumors, and their impact on the clinical behavior of these tumors warrants further investigation.
Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12→q13
Authors: Deen P.M.T. , Weghuis D.O. , Sinke R.J. , Geurts van Kessel A. , Wieringa B. , van Os C.H.
Published: May 2008

The chromosomal localization of the gene encoding Aquaporin 2 (previously called WCH-CD), which acts as a water channel in the collecting tubules of the kidney, was determined. Southern blot hybridizations of chromosomal DNA from a panel of 25 different human-rodent hybrid cell lines assigned AQP2 to the q-arm of human chromosome 12. Additionally, in situ hybridization on R-banded metaphase chromosomes localized AQP2 to the q12→q13 region of this chromosome.
Mapping of the human Zn-α2-glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization
Authors: Pendás A.M. , Matilla T. , Uría JA. , Freije JP. , Fueyo A. , Estivill X. , López-Otín C.
Published: May 2008

The gene coding for Zn-α2-glycoprotein (AZGPl), a human protein with a high degree of similarity to class I major histocompatibility complex (MHC) antigens, was mapped by fluorescent in situ hybridization to chromosome 7q22, a common breakpoint in myelodysplastic syndromes. Since classical MHC genes map on chromosome 6, this assignment indicates that besides duplication of the putative common ancestor gene, transposition events to different chromosomes have also been involved in the evolutionary diversification of this gene family.
ICA1 encoding p69, a protein linked to the development of type 1 diabetes, maps to human chromosome 7p22
Authors: Gaedigk R. , Duncan A.M.V. , Miyazaki I. , Robinson B.H. , Dosch H.-M.
Published: May 2008

The development of type 1 (insulin dependent) diabetes mellitus (IDDM) requires a genetically susceptible host and exposure, early in life, to environmental trigger molecules that induce diabetic autoimmunity to insulin producing islet cells. We previously identified islet cell protein p69 as a candidate autoimmune target in IDDM. Here we describe a human genomic p69 fragment which allowed us to map the gene (ICA1) to chromosome 7p22.
Nine polymorphic markers characterized by polymerase chain reaction techniques form two linkage groups on rat chromosome 8
Authors: Mathern P. , Goldmuntz E.A. , Du Y. , Zha H. , Cash J.M. , Crofford L.J. , Wilder R.L. , Remmers E.F.
Published: May 2008

Five genes and four anonymous polymorphic markers, forming two linkage groups, were mapped in F2 intercross progeny of F344/N × LEW/N rats using polymerase chain reaction (PCR) techniques. Both linkage groups were assigned to rat chromosome 8 because they contained genetic loci previously mapped to this chromosome. The first group was comprised of markers for three anonymous loci and two gene loci, thymus cell antigen-1 (Thy1) and tropoelastin (Eln). The second group was comprised of markers for one anonymous locus and three gene loci, cellular retinol binding protein II (Rbp2), matrin F/G (Matrl), and acylpeptide hydrolase (Apeh). Seven markers (identified by simple sequence repeat associated length polymorphisms) were characterized in an additional 13 inbred rat strains (ACI/N, BN/SsN, BUF/N, LER/N, LOU/ MN, MNR/N, MR/N, SHR/N, SR/Jr, SS/Jr, WBB1/N, WBB2/ N, and WKY/N). Two to six alleles were detected for each marker. The reported markers should facilitate genetic mapping and monitoring of inbred rat strains.
Chromosomal localization of the rat N-ras protooncogene by fluorescence in situ hybridization
Authors: de Stoppelaar J.M. , Suijkerbuijk R.F. , van Kranen H.J. , Faessen P. , Mohn G.R. , Hoebee B.
Published: May 2008

The rat N-rαs protooncogene has been assigned to chromosome 2q34 by fluorescence in situ hybridization on rat metaphase chromosomes. This was accomplished using two recently isolated genomic clones with a length of 8.2 and 4.1 kb.
Segmental tetrasomy of Chromosome 12 in the mouse
Authors: Katoh H. , Ebukuro M. , Suzuki H.
Published: May 2008

An inbred strain of mice has been identified that is homozygous for a chromosomal segment attached to the centromeric region of Chromosome (Chr) 5. The altered chromosome arose spontaneously, and it does not appear to interfere with fertility or to have a phenotypic effect. Karyotypic analysis based on G-banding and quinacrine/Hoechst-banding studies revealed a morphological similarity between the additional segment of Chr 5 and the centromeric region of Chr 12. The mutant strain possessed silver-stainable nucleolar organizer regions, not only in the centromeric regions of Chrs 12, 15, and 18 but also on the additional segment of Chr 5. We investigated the relationship between the additional segment and the restriction fragment length polymorphisms (RFLPs) for the variable region of ribosomal DNA and found a correlation between a Hindi RFLP and either the abnormal Chr 5 or Chr 12. These results indicate that the origin of the additional segment was Chr 12 and that the segmental tetrasomy of the present strain is therefore due to a nondetrimental translocation between pericentromeric regions.
Chromosomal mapping and nucleotide sequence of two tandem repeats of Atlantic salmon 5S rDNA
Authors: Pendas A.M. , Moran P. , Freije J.P. , Garcia-Vazquez E.
Published: May 2008

Atlantic salmon 5S ribosomal DNA (5S rDNA) was amplified by the polymerase chain reaction, using as primers conserved sequences from the coding region of rainbow trout 5S rRNA. Two amplified products of different molecular weights were obtained, cloned, and sequenced, revealing them to be tandemly arranged. The nucleotide sequences differed between the two clones in the length of the nontranscribed spacer (NTS) and in three nucleotides of the coding sequence. By means of fluorescence in situ hybridization the 5S rDNA was chromosomally located in the heterochromatic arm of the pair bearing the satellite, adjacent to the major ribosomal DNA locus (rDNA).
Concurrent mapping of an adenovirus 5/SV40 integration site and the U1 snRNA Cluster (RNU1) within 400 kb of the chromosome region 1p36.1
Authors: Romani M. , Baldini A. , Volpi E.V. , Casciano I. , Nobile C. , Muresu R. , Siniscalco M.
Published: May 2008

Previous reports from our group suggested the preferential integration of the viral construct Ad5/SV40 at the short arm subtelomeric region of human chromosome 1. The present study narrows the region of viral integration to site 1p36.1 in a close cytogenetic overlap with the U1 snRNA gene cluster (RNU1) within a distance necessarily smaller than 400 kb as suggested by the size of the YAC in which the two markers were found to coexist. This finding supports the hypothesis that the chromosomal site in question may have a constitutional propensity to genetic recombination.
Confirmation of Duffy blood group antigen locus (FY) at 1q22→q23 by fluorescence in situ hybridization
Authors: Matthew S. , Chaudhuri A. , Murty V.V.V.S , Pogo A.O.
Published: May 2008

The gene for the Duffy blood group antigen (FY) was previously assigned to the chromosome region 1q22→q23 by linkage analysis. We confirm this localization by fluorescence in situ hybridization.
Physical and genetic map of 5q31: use of fluorescence in situ hybridization data to identify errors in the CEPH database
Authors: Westbrook C.A. , Le Beau M.M. , Neuman W.L. , Keinanen M. , Yamaoka L.H. , Speer M.C. , Espinosa III R. , Nakamura Y. , Williamson R. , Mullan M. , Buetow K.
Published: May 2008

Chromosome 5, band q31, contains the genes responsible for a number of interesting genetic and malignant diseases, as well as many cloned genes. To prepare a high-resolution map of this region, eight anonymous DNA markers were mapped by combining genetic data derived from linkage analysis, with physical data obtained using two-color fluorescent in situ hybridization (FISH). Probe order was determined by FISH on metaphase cells, supplemented with interphase analysis, while genetic distance and likely order were determined by multipoint linkage analysis using genotype data from Centre d’Etude de Polymorphisme Humain (CEPH) pedigrees. Discrepancies between the genetic and physical maps suggested that there was a high rate of genotyping errors in the CEPH data for these markers, and prompted a statistical analysis to identify these errors. By assuming a known physical order (as determined by FISH) it was possible to identify markers which had the greatest degree of error. The average typing error was estimated at 1.8%, but several markers had much higher error rates; a 14% error rate was predicted for one locus, which was subsequently confirmed by retyping. The analysis led to the preparation of a revised map spanning 24.5 cM of 5q31. This study illustrates the power of FISH to determine physical order over a wide genomic distance, and demonstrates how order can be used as an adjunct to linkage analysis, particularly in the identification of genotyping errors.
Localization of the MAGE1 gene encoding a human melanoma antigen to chromosome Xq28
Authors: Wang M.G. , Zakut R. , Yi H. , Rosenberg S. , McBride O.W.
Published: May 2008

MAGE1 encodes a tumor specific antigen MZ2-E that elicited a cytotoxic T lymphocytic response (CTL) in the patient from whom it was derived. In this study, cDNA and genomic probes have been used to localize this gene by Southern analysis of a human-rodent somatic cell hybrid panel. The probes detect a small multigene family, and both MAGEl and several other members of this family are located on the long arm of the human X chromosome. A cosmid with a 12-kb insert including the entire MAGEl gene was biotinylated and used to further localize the gene to Xq28 by in situ hybridization of metaphase spreads. The function of this antigen in normal cells and tumor cells currently remains unclear.