human chromosomes

Summary

Summary: Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.

Top Publications

  1. ncbi Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
    Lars Guelen
    Division of Molecular Biology, Netherlands Cancer Institute, Plesmanlaan 121, Amsterdam, The Netherlands
    Nature 453:948-51. 2008
  2. ncbi A fine-scale map of recombination rates and hotspots across the human genome
    Simon Myers
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Science 310:321-4. 2005
  3. pmc The latent human herpesvirus-6A genome specifically integrates in telomeres of human chromosomes in vivo and in vitro
    Jesse H Arbuckle
    Department of Molecular Medicine, University of South Florida College of Medicine, Tampa, FL 33612, USA
    Proc Natl Acad Sci U S A 107:5563-8. 2010
  4. ncbi Large-scale copy number polymorphism in the human genome
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Science 305:525-8. 2004
  5. ncbi Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution
    Jill Cheng
    Affymetrix Inc, Santa Clara, CA 95051, USA
    Science 308:1149-54. 2005
  6. ncbi Recent segmental duplications in the human genome
    Jeffrey A Bailey
    Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Science 297:1003-7. 2002
  7. ncbi Chromosomal passengers: conducting cell division
    Sandrine Ruchaud
    Wellcome Trust Centre for Cell Biology, Institute of Cell and Molecular Biology, University of Edinburgh, Swann Building, King s Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
    Nat Rev Mol Cell Biol 8:798-812. 2007
  8. pmc Large-scale analysis of adeno-associated virus vector integration sites in normal human cells
    Daniel G Miller
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, 98195 7720, USA
    J Virol 79:11434-42. 2005
  9. pmc Differences in telomere length between homologous chromosomes in humans
    J A Londono-Vallejo
    Unité Inserm 434, Centre d Etudes du Polymorphisme Humain, 27 rue Juliette Dodu, 75010 Paris, France
    Nucleic Acids Res 29:3164-71. 2001
  10. pmc Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
    Elena V Linardopoulou
    Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North C3 168, Seattle, Washington 98109, USA
    Nature 437:94-100. 2005

Detail Information

Publications252 found, 100 shown here

  1. ncbi Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions
    Lars Guelen
    Division of Molecular Biology, Netherlands Cancer Institute, Plesmanlaan 121, Amsterdam, The Netherlands
    Nature 453:948-51. 2008
    The architecture of human chromosomes in interphase nuclei is still largely unknown. Microscopy studies have indicated that specific regions of chromosomes are located in close proximity to the nuclear lamina (NL)...
  2. ncbi A fine-scale map of recombination rates and hotspots across the human genome
    Simon Myers
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Science 310:321-4. 2005
    ....
  3. pmc The latent human herpesvirus-6A genome specifically integrates in telomeres of human chromosomes in vivo and in vitro
    Jesse H Arbuckle
    Department of Molecular Medicine, University of South Florida College of Medicine, Tampa, FL 33612, USA
    Proc Natl Acad Sci U S A 107:5563-8. 2010
    ....
  4. ncbi Large-scale copy number polymorphism in the human genome
    Jonathan Sebat
    Cold Spring Harbor Laboratory, Cold Spring Harbor, NY 11724, USA
    Science 305:525-8. 2004
    ..We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease...
  5. ncbi Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution
    Jill Cheng
    Affymetrix Inc, Santa Clara, CA 95051, USA
    Science 308:1149-54. 2005
    Sites of transcription of polyadenylated and nonpolyadenylated RNAs for 10 human chromosomes were mapped at 5-base pair resolution in eight cell lines...
  6. ncbi Recent segmental duplications in the human genome
    Jeffrey A Bailey
    Department of Genetics, Center for Computational Genomics, and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Science 297:1003-7. 2002
    ..Our analysis indicates a highly nonrandom chromosomal and genic distribution of recent segmental duplications, with a likely role in expanding protein diversity...
  7. ncbi Chromosomal passengers: conducting cell division
    Sandrine Ruchaud
    Wellcome Trust Centre for Cell Biology, Institute of Cell and Molecular Biology, University of Edinburgh, Swann Building, King s Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
    Nat Rev Mol Cell Biol 8:798-812. 2007
    ....
  8. pmc Large-scale analysis of adeno-associated virus vector integration sites in normal human cells
    Daniel G Miller
    Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, 98195 7720, USA
    J Virol 79:11434-42. 2005
    ..These studies establish a profile of insertional mutagenesis for AAV vectors and provide unique insight into the chromosomal distribution of DNA strand breaks that may facilitate integration...
  9. pmc Differences in telomere length between homologous chromosomes in humans
    J A Londono-Vallejo
    Unité Inserm 434, Centre d Etudes du Polymorphisme Humain, 27 rue Juliette Dodu, 75010 Paris, France
    Nucleic Acids Res 29:3164-71. 2001
    ..These findings suggest the existence of a mechanism maintaining differences in telomere length between chromosome homologs that is independent of telomere length itself...
  10. pmc Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
    Elena V Linardopoulou
    Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North C3 168, Seattle, Washington 98109, USA
    Nature 437:94-100. 2005
    ..More generally, our analyses suggest an evolutionary cycle between segmental polymorphisms and genome rearrangements...
  11. pmc Inner centromere formation requires hMis14, a trident kinetochore protein that specifically recruits HP1 to human chromosomes
    Tomomi Kiyomitsu
    Core Research for Evolutional Science and Technology Research Program, Japan Science and Technology Corporation, Department of Gene Mechanisms, Graduate School of Biostudies, Kyoto University, Sakyo ku, Kyoto 606 8501, Japan
    J Cell Biol 188:791-807. 2010
    ..of HP1 in the inner centromere and the localization of hMis14 at the kinetochore are mutually dependent in human chromosomes. hMis14, which contains a tripartite-binding domain for HP1 and two other kinetochore proteins, hMis13 and ..
  12. ncbi Chromosomal and gene amplification in diffuse large B-cell lymphoma
    P H Rao
    Cell Biology Program and the Departments of Pathology and Human Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA
    Blood 92:234-40. 1998
    ..These data show, for the first time, that amplification of chromosomal regions and genes is a frequent phenomenon in DLBL and demonstrates their potential significance in lymphomagenesis...
  13. ncbi Cancer cells display profound intra- and interline variation following prolonged exposure to antimitotic drugs
    Karen E Gascoigne
    Faculty of Life Sciences, University of Manchester, Oxford Road, Manchester M13 9PT, UK
    Cancer Cell 14:111-22. 2008
    ..We present data supporting a model wherein cell fate is dictated by two competing networks, one involving caspase activation, the other protecting cyclin B1 from degradation...
  14. pmc Mps1 directs the assembly of Cdc20 inhibitory complexes during interphase and mitosis to control M phase timing and spindle checkpoint signaling
    John Maciejowski
    Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA
    J Cell Biol 190:89-100. 2010
    ....
  15. ncbi The human transcriptome map: clustering of highly expressed genes in chromosomal domains
    H Caron
    Department of Human Genetics, Department of Pediatric Oncology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Post Office Box 22700, 1100 DE Amsterdam, Netherlands
    Science 291:1289-92. 2001
    ..The map reveals a clustering of highly expressed genes to specific chromosomal regions. It provides a tool to search for genes that are overexpressed or silenced in cancer...
  16. ncbi Targeted transgene insertion into human chromosomes by adeno-associated virus vectors
    Roli Hirata
    Department of Medicine, Mailstop 357720, University of Washington, Seattle, WA 98195, USA
    Nat Biotechnol 20:735-8. 2002
    ..This approach should prove useful both for functional genomic analysis in diploid human cells and for therapeutic gene targeting...
  17. ncbi Dynamics of DNA double-strand breaks revealed by clustering of damaged chromosome domains
    Jacob A Aten
    Center for Microscopical Research, Department of Cell Biology and Histology, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, Netherlands
    Science 303:92-5. 2004
    ..Our results support the breakage-first theory to explain the origin of chromosomal translocations...
  18. ncbi Strong association of de novo copy number mutations with sporadic schizophrenia
    Bin Xu
    Department of Physiology and Cellular Biophysics, Columbia University, New York, New York 10032, USA
    Nat Genet 40:880-5. 2008
    ....
  19. ncbi Rb inactivation promotes genomic instability by uncoupling cell cycle progression from mitotic control
    Eva Hernando
    Department of Pathology, Memorial Sloan Kettering Cancer Center New York, New York 10021, USA
    Nature 430:797-802. 2004
    ....
  20. ncbi Array comparative genomic hybridization analysis of chromosomal imbalances and their target genes in gastrointestinal stromal tumors
    Reetta Assämäki
    Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
    Genes Chromosomes Cancer 46:564-76. 2007
    ..Array CGH proved to be an effective tool for the identification of chromosome regions involved in the development and progression of GISTs...
  21. pmc A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping
    Chao Tian
    Rowe Program in Human Genetics, Department of Biochemistry, University of California Davis, Davis, CA 95616, USA
    Am J Hum Genet 80:1014-23. 2007
    ..The results will enable studies of type 2 diabetes, rheumatoid arthritis, and other diseases among which epidemiological studies suggest differences in the distribution of ancestry-associated susceptibility...
  22. ncbi Molecular cytogenetic analysis of non-small cell lung carcinoma by spectral karyotyping and comparative genomic hybridization
    C Luk
    Departments of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
    Cancer Genet Cytogenet 125:87-99. 2001
    ..The pattern of overall chromosomal changes detected using combinations of molecular cytogenetic analytical methods suggests that it will be easier to detect recurrent subtype-dependent aberrations in NSCLC...
  23. pmc Intermingling of chromosome territories in interphase suggests role in translocations and transcription-dependent associations
    Miguel R Branco
    MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
    PLoS Biol 4:e138. 2006
    ..These findings suggest that local chromatin conformation and gene transcription influence the extent with which chromosomes interact and affect their overall properties, with direct consequences for cell-type specific genome stability...
  24. ncbi Identification and characterization of satellite III subfamilies to the acrocentric chromosomes
    R Bandyopadhyay
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Chromosome Res 9:223-33. 2001
    ..Knowledge of these related sequences may help to elucidate the molecular basis of Robertsonian translocation formation...
  25. pmc Evidence for a relatively random array of human chromosomes on the mitotic ring
    D C Allison
    Department of Surgery, MCO Microscopy Imaging Center, Medical College of Ohio, Toledo, Ohio 43614, USA
    J Cell Biol 145:1-14. 1999
    We used fluorescence in situ hybridization (FISH) to study the positions of human chromosomes on the mitotic rings of cultured human lymphocytes, MRC-5 fibroblasts, and CCD-34Lu fibroblasts...
  26. pmc The amino terminus of Epstein-Barr Virus (EBV) nuclear antigen 1 contains AT hooks that facilitate the replication and partitioning of latent EBV genomes by tethering them to cellular chromosomes
    John Sears
    Department of Microbiology Immunology, Feinberg School of Medicine, Northwestern University, 303 East Chicago Ave, Chicago, IL 60611, USA
    J Virol 78:11487-505. 2004
    ..Our results indicate that it is unlikely that EBP2 directly mediates these activities of EBNA1 in human cells...
  27. pmc Chromosomes are predominantly located randomly with respect to each other in interphase human cells
    Michael N Cornforth
    Department of Radiation Oncology, University of Texas Medical Branch, Galveston, TX 77555, USA
    J Cell Biol 159:237-44. 2002
    ..Thus, whereas some chromosome-chromosome associations are clearly present, at the whole-chromosomal level, the predominant overall pattern appears to be spatially random...
  28. pmc Comparative analyses of human single- and multilocus tandem repeats
    Darren Ames
    BIO5 Institute and Department of Plant Sciences, University of Arizona, Tucson, Arizona 85719, USA
    Genetics 179:1693-704. 2008
    ..Using our collated parameters, we identified 2230 slTRs as candidates for highly informative molecular markers...
  29. pmc Dissecting the role of MPS1 in chromosome biorientation and the spindle checkpoint through the small molecule inhibitor reversine
    Stefano Santaguida
    Department of Experimental Oncology, European Institute of Oncology, I 20139 Milan, Italy
    J Cell Biol 190:73-87. 2010
    ..They also shed light on the relationship between the error correction pathway and the spindle checkpoint and suggest that these processes are coregulated and are likely to share at least a subset of their catalytic machinery...
  30. pmc Conformational variants of duplex DNA correlated with cytosine-rich chromosomal fragile sites
    Albert G Tsai
    Department of Biochemistry, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California 90089 9176, USA
    J Biol Chem 284:7157-64. 2009
    ..These characteristics of homo-C tracts in duplex DNA may be associated with DNA-protein interactions in vivo that predispose certain genomic regions to chromosomal fragility...
  31. pmc Stable morphology, but dynamic internal reorganisation, of interphase human chromosomes in living cells
    Iris Muller
    Division of Cell and Developmental Biology, College of Life Sciences, University of Dundee, Dundee, UK
    PLoS ONE 5:e11560. 2010
    ..involving photoactivation of labelled histone H3 at mitosis, to visualise individual and specific human chromosomes in living interphase cells...
  32. pmc Role for G-quadruplex RNA binding by Epstein-Barr virus nuclear antigen 1 in DNA replication and metaphase chromosome attachment
    Julie Norseen
    The Wistar Institute, Philadelphia, PA 19104, USA
    J Virol 83:10336-46. 2009
    ..These findings suggest that the EBNA1 replication and maintenance function uses a common G-quadruplex binding capacity of LR1 and LR2, which may be targetable by small-molecule inhibitors...
  33. pmc Genomic study of replication initiation in human chromosomes reveals the influence of transcription regulation and chromatin structure on origin selection
    Neerja Karnani
    Departments of Biochemistry and Molecular Genetics and Computer Science, University of Virginia, Charlottesville, VA 22908, USA
    Mol Biol Cell 21:393-404. 2010
    ..In summary, these findings indicate that replication initiation is influenced by transcription initiation and regulation as well as chromatin structure...
  34. ncbi The human CENP-A centromeric nucleosome-associated complex
    Daniel R Foltz
    Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, CA 92093 0670, USA
    Nat Cell Biol 8:458-69. 2006
    ..The CENP-A NAC is essential, as disruption of the complex causes errors of chromosome alignment and segregation that preclude cell survival despite continued centromere-derived mitotic checkpoint signalling...
  35. pmc A genomewide admixture map for Latino populations
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 80:1024-36. 2007
    ..We evaluated the effectiveness of our map for localizing disease genes in four Latino populations from both North and South America...
  36. ncbi Variation in crossover interference levels on individual chromosomes from human males
    Jie Lian
    Hefei National Laboratory for Physical Sciences, Microscale 2 School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230026, China
    Hum Mol Genet 17:2583-94. 2008
    ..This is the first report that the interference level varies significantly across the whole genome and that, at least in the human male, anomalies in chromosome synapsis play an important role in altering CO interference levels...
  37. ncbi R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cells
    Kefei Yu
    USC Norris Comprehensive Cancer Center, Room 5428, University of Southern California Keck School of Medicine, 1441 Eastlake Avenue, MC 9176, Los Angeles, CA 90033, USA
    Nat Immunol 4:442-51. 2003
    ..The length of the R-loops can exceed 1 kilobase. We propose that this distinctive DNA structure is important in the class switch recombination mechanism..
  38. ncbi Novel components of human mitotic chromosomes identified by proteomic analysis of the chromosome scaffold fraction
    Reto Gassmann
    Wellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Kings Buildings, Mayfield Road, Edinburgh, EH9 3JR, UK
    Chromosoma 113:385-97. 2005
    ..One of the proteins, nuclear protein p30, is a novel component of the inner centromere. Over-expression experiments indicated that p30 may have an active role in the formation of centromeric heterochromatin...
  39. ncbi Securin is required for chromosomal stability in human cells
    P V Jallepalli
    The Johns Hopkins Oncology Center, 1650 Orleans Street, Baltimore, MD 21231, USA
    Cell 105:445-57. 2001
    ..These results illuminate the function of mammalian securin and show that it is essential for the maintenance of euploidy...
  40. ncbi Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk
    Dalemari Crowther-Swanepoel
    Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 42:132-6. 2010
    ..2 (rs783540, CPEB1; OR = 1.18; P = 3.67 x 10(-6)) and 18q21.1 (rs1036935; OR = 1.22; P = 2.28 x 10(-6)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy...
  41. pmc Normal human chromosomes have long G-rich telomeric overhangs at one end
    W E Wright
    Department of Cell Biology and Neuroscience, The University of Texas Southwestern Medical Center, Dallas, Texas 75235 9039 USA
    Genes Dev 11:2801-9. 1997
    ..Our results do not exclude the possibility that nuclease processing events following leading strand synthesis result in short overhangs on one end...
  42. pmc Sensing chromosome bi-orientation by spatial separation of aurora B kinase from kinetochore substrates
    Dan Liu
    Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Science 323:1350-3. 2009
    ..Thus, centromere tension can be sensed by increased spatial separation of Aurora B from kinetochore substrates, which reduces phosphorylation and stabilizes kinetochore microtubules...
  43. ncbi Chromosomal instability correlates with genome-wide DNA demethylation in human primary colorectal cancers
    Jairo Rodriguez
    Institut d Investigacio Biomedica de Bellvitge, L Hospitalet, Barcelona, Catalonia, Spain
    Cancer Res 66:8462-9468. 2006
    ....
  44. pmc The evolutionary origin of man can be traced in the layers of defunct ancestral alpha satellites flanking the active centromeres of human chromosomes
    Valery A Shepelev
    Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
    PLoS Genet 5:e1000641. 2009
    Alpha satellite domains that currently function as centromeres of human chromosomes are flanked by layers of older alpha satellite, thought to contain dead centromeres of primate progenitors, which lost their function and the ability to ..
  45. pmc Genome-scale evolution: reconstructing gene orders in the ancestral species
    Guillaume Bourque
    Department of Mathematics, University of Southern California, California 90089, USA
    Genome Res 12:26-36. 2002
    ..In particular, our analysis suggests a new improved rearrangement scenario for a very difficult Campanulaceae cpDNA dataset and a putative rearrangement scenario for human, mouse and cat genomes...
  46. pmc Lethality to human cancer cells through massive chromosome loss by inhibition of the mitotic checkpoint
    Geert J P L Kops
    Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA 92093 0670, USA
    Proc Natl Acad Sci U S A 101:8699-704. 2004
    ..Thus, suppression of mitotic checkpoint signaling is invariably lethal as the consequence of massive chromosome loss, findings that have implications for inhibiting proliferation of tumor cells...
  47. ncbi UV-A breakage sensitivity of human chromosomes as measured by COMET-FISH depends on gene density and not on the chromosome size
    A Rapp
    Institut fur Molekulare Biotechnologie, Jena, Germany
    J Photochem Photobiol B 56:109-17. 2000
    ..On the basis of all 12 chromosomes analyzed, an inverse correlation between the density of active genes and the sensitivity toward UV-A radiation is found...
  48. ncbi Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461)
    John C Byrd
    Division of Hematology and Oncology, Comprehensive Cancer Center, The Ohio State University, Columbus 43210 1240, USA
    Blood 100:4325-36. 2002
    ....
  49. ncbi Transcription dependence of chromosomal gene targeting by triplex-forming oligonucleotides
    Margaret A Macris
    Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, Connecticut 06520 8040, USA
    J Biol Chem 278:3357-62. 2003
    ..These findings provide evidence that physiologic activity at a chromosomal target site can influence its accessibility to TFOs and suggest that gene targeting by small molecules may be most effective at highly expressed chromosomal loci...
  50. pmc Construction, characterization, and complementation of a conditional-lethal DNA topoisomerase IIalpha mutant human cell line
    Adam J Carpenter
    Gene Targeting Group, Medical Research Council Clinical Sciences Centre, Imperial College Faculty of Medicine, Hammersmith Hospital Campus, London W12 ONN, United Kingdom
    Mol Biol Cell 15:5700-11. 2004
    ....
  51. ncbi Recent duplication, domain accretion and the dynamic mutation of the human genome
    E E Eichler
    Dept of Genetics and Center for Human Genetics, Case Western Reserve School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA
    Trends Genet 17:661-9. 2001
    ....
  52. ncbi Adenovirus core protein VII contains distinct sequences that mediate targeting to the nucleus and nucleolus, and colocalization with human chromosomes
    Tim W R Lee
    School of Biochemistry and Molecular Biology, University of Leeds, Leeds LS2 9JT, UK
    J Gen Virol 84:3423-8. 2003
    ..Furthermore, the data suggest that protein VII may bind to human chromosomes by means of two distinct domains, one sharing homology with the N-terminal regulatory tail of histone H3.
  53. ncbi The evolution of isochores
    A Eyre-Walker
    Centre for the Study of Evolution and School of Biological Sciences, University of Sussex, Brighton BN1 9QG, UK
    Nat Rev Genet 2:549-55. 2001
    ..However, although we have known about isochores for over 25 years, we still have a poor understanding of why they exist. In this article, we review the current evidence for the three main hypotheses...
  54. pmc Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families
    Maricela Alarcon
    Center for Neurobehavioral Genetics and Neuropsychiatric Research Institute, and Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    Am J Hum Genet 70:60-71. 2002
    ..The putative autism-susceptibility locus on chromosome 7 may be the result of separate QTLs for the language and repetitive or stereotyped behavior deficits that are associated with the disorder...
  55. ncbi Shotgun sequence assembly and recent segmental duplications within the human genome
    Xinwei She
    Department of Genome Sciences, University of Washington School of Medicine, 1705 NE Pacific Street, Seattle, Washington 98195, USA
    Nature 431:927-30. 2004
    ....
  56. pmc Tension-sensitive Plk1 phosphorylation on BubR1 regulates the stability of kinetochore microtubule interactions
    Sabine Elowe
    Department of Cell Biology, Max Planck Institute of Biochemistry, D 82152 Martinsried, Germany
    Genes Dev 21:2205-19. 2007
    ....
  57. ncbi Depletion of topoisomerase IIalpha leads to shortening of the metaphase interkinetochore distance and abnormal persistence of PICH-coated anaphase threads
    Jennifer M Spence
    Department of Genetics, University of Cambridge, Downing Street, Cambridge CB2 3EH, UK
    J Cell Sci 120:3952-64. 2007
    ....
  58. pmc A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping
    Chao Tian
    Rowe Program in Human Genetics, Department of Biochemistry and Medicine, University of California Davis, Davis, CA 95616, USA
    Am J Hum Genet 79:640-9. 2006
    ..This is particularly important in the application of admixture mapping in complex genetic diseases for which only modest ethnicity risk ratios of relevant susceptibility genes are expected...
  59. ncbi Comparative gene mapping: a fine-scale survey of chromosome rearrangements between ruminants and humans
    L Schibler
    Institut National de la Recherche Agronomique INRA, Département de Génétique Animale, Laboratoire de Génétique Biochimique et de Cytogénétique, 78350 Jouy en Josas, France
    Genome Res 8:901-15. 1998
    ..We believe that this comprehensive map will speed up positional cloning projects in domestic ruminants and clarify some aspects of mammalian chromosomal evolution...
  60. pmc CTCF physically links cohesin to chromatin
    Eric D Rubio
    Department of Radiation Oncology, University of Washington School of Medicine, Seattle WA 98195, USA
    Proc Natl Acad Sci U S A 105:8309-14. 2008
    ..These results have implications for the functional role of cohesin subunits in the pathogenesis of Cornelia de Lange syndrome and Roberts syndromes...
  61. ncbi Integrated detection and population-genetic analysis of SNPs and copy number variation
    Steven A McCarroll
    Program in Medical and Population Genetics and Genetic Analysis Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1166-74. 2008
    ..Most common, diallelic CNPs were in strong linkage disequilibrium with SNPs, and most low-frequency CNVs segregated on specific SNP haplotypes...
  62. ncbi Assignment of 118 novel cDNAs of cynomolgus monkey brain to human chromosomes
    N Osada
    Division of Genetic Resources, National Institute of Infectious Diseases, Tokyo, Japan
    Gene 275:31-7. 2001
    ..To localize the genes corresponding to these 118 newly identified cDNA clones on human chromosomes, we performed a homology search using the human genome sequence and fluorescent in situ hybridization...
  63. ncbi Comparison of fine-scale recombination rates in humans and chimpanzees
    Wendy Winckler
    Department of Molecular Biology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114 2622, USA
    Science 308:107-11. 2005
    ..Thus, local patterns of recombination rate have evolved rapidly, in a manner disproportionate to the change in DNA sequence...
  64. pmc Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry
    Melanie P Gygi
    Department of Molecular Biotechnology, University of Washington, Seattle, WA 98195, USA
    Nucleic Acids Res 30:2790-9. 2002
    ..we demonstrate the use of synthetic polyamide probes to fluorescently label heterochromatic regions on human chromosomes for discrimination in cytogenetic preparations and by flow cytometry...
  65. ncbi Virtual radiation biophysics: implications of nuclear structure
    G Kreth
    Kirchhoff Institute for Physics, INF 227 Heidelberg, Germany
    Cytogenet Genome Res 104:157-61. 2004
    ..Regarding one-chromosome yields, remarkable differences for single CTs were observed taking into account the gene density-correlated distribution of CTs...
  66. pmc Bub1 regulates chromosome segregation in a kinetochore-independent manner
    Christiane Klebig
    Institute of Biochemistry, Eidgenossische Technische Hochschule ETH Zurich, 8093 Zurich, Switzerland
    J Cell Biol 185:841-58. 2009
    ....
  67. ncbi Automated screening for genomic imbalances using matrix-based comparative genomic hybridization
    Swen Wessendorf
    Division Organisation komplexer Genome, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, D 69120 Heidelberg, Germany
    Lab Invest 82:47-60. 2002
    ..With the matrix-CGH protocol presented here, robust and reliable detection of genomic gains and losses is accomplished in an automated fashion, which provides the basis for widespread application in tumor and clinical genetics...
  68. ncbi Chromosome spatial clustering inferred from radiogenic aberrations
    J Arsuaga
    Mathematics Department, University of California, Berkeley, CA 94720, USA
    Int J Radiat Biol 80:507-15. 2004
    ....
  69. ncbi Termini of human chromosomes display elevated rates of mitotic recombination
    M N Cornforth
    Department of Radiation Oncology, 344 Gail Borden Building, University of Texas Medical Branch, Galveston, TX 77555 0656, USA
    Mutagenesis 16:85-9. 2001
    ..Implications of these results are discussed in terms of limitations imposed on CO-FISH for its proposed use in directional hybridization mapping...
  70. pmc High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
    Daniel A Peiffer
    Illumina, Inc, San Diego, California 92121, USA
    Genome Res 16:1136-48. 2006
    ..Finally, the two analysis modes are compared and contrasted for their utility in analyzing different types of input gDNA: low input amounts, fragmented gDNA, and Phi29 whole-genome pre-amplified DNA...
  71. ncbi Extended tracts of homozygosity in outbred human populations
    Jane Gibson
    Human Genetics Research Division, School of Medicine, University of Southampton, Southampton SO16 6YD, UK
    Hum Mol Genet 15:789-95. 2006
    ..Possible alternative mechanisms and the implications of long homozygous tracts in the genome are discussed...
  72. ncbi Structure of human chromosomes studied by atomic force microscopy. Part II. Relationship between structure and cytogenetic bands
    Javier Tamayo
    Instituto de Microelectronica de Madrid CSIC, Isaac Newton 8 PTM, 28760 Tres Cantos, Madrid, Spain
    J Struct Biol 141:189-97. 2003
    In the first part of this work, human chromosomes were characterized by atomic force microscopy (AFM) in air and in aqueous solution...
  73. ncbi Genomic imprinting: parental influence on the genome
    W Reik
    Laboratory of Developmental Genetics and Imprinting, Developmental Genetics Programme, Babraham Institute, Cambridge CB2 4AT, UK
    Nat Rev Genet 2:21-32. 2001
    ..Aberrant imprinting disturbs development and is the cause of various disease syndromes. The study of imprinting also provides new insights into epigenetic gene modification during development...
  74. ncbi Telomere-end processing the terminal nucleotides of human chromosomes
    Agnel J Sfeir
    Department of Cell Biology, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390, USA
    Mol Cell 18:131-8. 2005
    ..In contrast, the G-terminal nucleotide was less precise than Tetrahymena and Euplotes but still had a bias that changed as a function of telomerase expression...
  75. ncbi A chromatin remodelling complex that loads cohesin onto human chromosomes
    Mohamed Ali Hakimi
    The Wistar Institute, 3601 Spruce Street, Philadelphia, Pennsylvania 19104, USA
    Nature 418:994-8. 2002
    ..Finally, we present evidence pointing to a role for the ATPase activity of SNF2h in the loading of hRAD21 on chromatin...
  76. ncbi Bub1 is required for kinetochore localization of BubR1, Cenp-E, Cenp-F and Mad2, and chromosome congression
    Victoria L Johnson
    School of Biological Sciences, University of Manchester, 2 205 Stopford Building, Oxford Road, Manchester M13 9PT, UK
    J Cell Sci 117:1577-89. 2004
    ..This raises the possibility that, in the absence of Bub1, other mechanisms contribute to spindle checkpoint function...
  77. ncbi The dynamics of chromosome evolution in birds and mammals
    D W Burt
    Roslin Institute Edinburgh, Roslin, Midlothian, UK
    Nature 402:411-3. 1999
    ..The relative stability of genomes such as those of the chicken and human will enable the reconstruction of maps of ancestral vertebrates...
  78. ncbi Structural stability and chromosome-specific telomere length is governed by cis-acting determinants in humans
    Bethan Britt-Compton
    Department of Pathology, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 15:725-33. 2006
    ....
  79. pmc Survivin is required for a sustained spindle checkpoint arrest in response to lack of tension
    Susanne M A Lens
    Division of Molecular Biology, Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX Amsterdam, The Netherlands
    EMBO J 22:2934-47. 2003
    ..However, stable association of BubR1 to kinetochores and sustained checkpoint signalling in response to lack of tension crucially depend on survivin...
  80. pmc A genomewide admixture mapping panel for Hispanic/Latino populations
    Xianyun Mao
    Department of Anthropology, The Pennsylvania State University, University Park, PA 16801, USA
    Am J Hum Genet 80:1171-8. 2007
    ..This genomewide AM panel will make it possible to apply AM approaches in many admixed populations throughout the Americas...
  81. pmc Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
    Joseph Cheung
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Genome Biol 4:R25. 2003
    ..We have developed rapid computational heuristics based on BLAST analysis to detect segmental duplications, as well as regions containing potential sequence misassignments in the human genome assemblies...
  82. ncbi High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes
    I Chudoba
    Institute of Human Genetics and Anthropology, Jena, Germany
    Cytogenet Cell Genet 84:156-60. 1999
    ..The changing fluorescence intensity ratios along the chromosomes are used to assign different pseudo-colors to specific chromosome regions. The multicolor banding of human chromosome 5 is presented as an example...
  83. ncbi Segmental duplications: an 'expanding' role in genomic instability and disease
    B S Emanuel
    Division of Human Genetics and Molecular Biology, 1002 Abramson Research Center, The Children s Hospital of Philadelphia, 3516 Civic Center Blvd, Philadelphia, Pennsylvania 19104, USA
    Nat Rev Genet 2:791-800. 2001
    ..These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement...
  84. pmc Human subtelomeric WASH genes encode a new subclass of the WASP family
    Elena V Linardopoulou
    Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA
    PLoS Genet 3:e237. 2007
    ..Thus, human subtelomeres are not genetic junkyards, and WASH's location in these dynamic regions could have advantageous as well as pathologic consequences...
  85. ncbi Disentangling the effects of demography and selection in human history
    Jason E Stajich
    Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina, USA
    Mol Biol Evol 22:63-73. 2005
    ..These results are consistent with repeated selective sweeps in non-African populations, in agreement with recent reports using microsatellite data...
  86. pmc Mapping EBNA-1 domains involved in binding to metaphase chromosomes
    V Marechal
    Service de Microbiologie, Hopital Rothschild, 75571 Paris Cedex 12, France
    J Virol 73:4385-92. 1999
    ..In agreement with the anchorage model, two of these domains mapped to a region that has been previously demonstrated to be required for the long-term persistence of OriP-containing plasmids...
  87. ncbi Use of whole genome amplification and comparative genomic hybridisation to detect chromosomal copy number alterations in cell line material and tumour tissue
    S Hughes
    Ontario Cancer Institute, Princess Margaret Hospital, University Health Network, Toronto, Ontario, Canada
    Cytogenet Genome Res 105:18-24. 2004
    ....
  88. pmc Genome rearrangements in mammalian evolution: lessons from human and mouse genomes
    Pavel Pevzner
    Department of Computer Science and Engineering, University of California, San Diego, La Jolla, CA 92093 0114, USA
    Genome Res 13:37-45. 2003
    ..Because these graphs provide important insights into rearrangement scenarios, we introduce a new visualization tool that allows one to view breakpoint graphs superimposed with genomic dot-plots...
  89. ncbi Cytogenetically balanced translocations are associated with focal copy number alterations
    Spencer K Watson
    Cancer Genetics and Developmental Biology, British Columbia Cancer Research Centre, 675 West 10th Avenue, Vancouver, BC, Canada
    Hum Genet 120:795-805. 2007
    ..Our results reveal that imperfectly balanced translocations in tumor genomes are a phenomenon that occurs at frequencies much higher than previously demonstrated...
  90. pmc An isochore map of human chromosomes
    Maria Costantini
    Laboratory of Molecular Evolution, Stazione Zoologica Anton Dohrn, 80121 Naples, Italy
    Genome Res 16:536-41. 2006
    ..Precisely defining in terms of size and composition as well as mapping the isochores on human chromosomes have, however, remained largely unsolved problems...
  91. pmc Patterns of meiotic recombination in human fetal oocytes
    Charles Tease
    Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, United Kingdom
    Am J Hum Genet 70:1469-79. 2002
    ..We speculate that these abnormal fetal oocytes may be the source of the nonrecombinant chromosomes 13 and X suggested, by genetic studies, to be associated with maternally derived chromosome nondisjunction...
  92. ncbi The G2 chromosomal radiosensitivity assay
    P E Bryant
    School of Biology, University of St Andrews, Scotland, UK
    Int J Radiat Biol 78:863-6. 2002
    ..In all cases the final G2 score should comprise the sum of all gaps and breaks...
  93. ncbi Checkpoint abrogation in G2 compromises repair of chromosomal breaks in ataxia telangiectasia cells
    Georgia I Terzoudi
    Institute of Nuclear Technology and Radiation Protection, National Centre for Scientific Research Demokritos, Aghia Paraskevi Attikis, Athens, Greece
    Cancer Res 65:11292-6. 2005
    ..Failure to arrest will lead to chromatin condensation and conversion of unrepaired DNA DSBs to chromosomal breaks during G(2)-to-M phase transition...
  94. ncbi Covariation of synaptonemal complex length and mammalian meiotic exchange rates
    Audrey Lynn
    Department of Genetics, Case Western Reserve University, Cleveland, OH, USA
    Science 296:2222-5. 2002
    ..Thus, at least in mammals, a physical structure, the synaptonemal complex, reflects genetic rather than physical distance...
  95. pmc Whole genome DNA copy number changes identified by high density oligonucleotide arrays
    Jing Huang
    Affymetrix, Inc, 3380 Central Expressway, Santa Clara, CA 95051, USA
    Hum Genomics 1:287-99. 2004
    ..With mean and median inter-SNP euchromatin distances of 244 kilobases (kb) and 119 kb, respectively, this method affords a resolution that is not easily achievable with non-oligonucleotide-based experimental approaches...
  96. pmc CENP-A, -B, and -C chromatin complex that contains the I-type alpha-satellite array constitutes the prekinetochore in HeLa cells
    Satoshi Ando
    BioScience Center, Nagoya University, Chikusa ku, Nagoya 464 8601, Japan
    Mol Cell Biol 22:2229-41. 2002
    ..On the basis of these results, we propose that the CENP-A/B/C chromatin complex is selectively formed on the I-type alpha-satellite array and constitutes the prekinetochore in HeLa cells...
  97. ncbi Evolutionary breakpoints through a high-resolution comparative map between porcine chromosomes 2 and 16 and human chromosomes
    Yvette Lahbib-Mansais
    Institut National de la Recherche Agronomique, Laboratoire de Genetique Cellulaire, BP52627, 31326 Castanet Tolosan, France
    Genomics 88:504-12. 2006
    This study reports a high-resolution comparative map between human chromosomes and porcine chromosomes 2 (SSC2) and 16 (SSC16), pointing out new homologies and evolutionary breakpoints...
  98. ncbi The primates of the Neotropics: genomes and chromosomes
    H N Seuanez
    Genetics Division, Instituto Nacional de Cancer, Rio de Janeiro, Brazil
    Cytogenet Genome Res 108:38-46. 2005
    ..These approaches have substantially clarified the main intergeneric relationships although several intrageneric arrangements still remain to be elucidated. In this review, we compare karyologic and molecular data of this speciose group...
  99. ncbi A unification of mosaic structures in the human genome
    Martin J Lercher
    Department of Biology and Biochemistry, University of Bath, UK
    Hum Mol Genet 12:2411-5. 2003
    ..This is not only a confirmation of the adaptive hypothesis, but is also the first direct systematic evidence of a general interdependence of expression patterns with base composition and chromosome structure...
  100. ncbi Genome-wide identification of chromosomal regions of increased tumor expression by transcriptome analysis
    Yan Zhou
    Department of Bioinformatics, Genentech, Inc, South San Francisco, California 94080, USA
    Cancer Res 63:5781-4. 2003
    ..Our large-scale transcriptome analysis led to identification of many additional chromosomal regions with increased tumor expression, regions that represent potential tumor amplicons...

Research Grants62

  1. Environmental Risk Factors for Copy Number Variation in Human Chromosomes
    THOMAS EDWARD WILSON; Fiscal Year: 2010
    ....
  2. Novel genomic effects of Y-linked polymorphisms
    Daniel L Hartl; Fiscal Year: 2012
    ..variation affecting human health and disease will ultimately be traced to variation in heterochromatin in human chromosomes. The long-range goal of this research is to understand the regulatory role of the Y chromosome in genetic ..
  3. Determinants of Telomere Length in Chronic SCI: A Pilot Study
    Eric Garshick; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Telomeres are made up of repeat sequences of nucleotides at the ends of human chromosomes. The function of telomeres is to protect chromosomes from degradation and to maintain their structural ..
  4. Effect of anti-S phase agents on human chromosomes
    Anindya Dutta; Fiscal Year: 2013
    ..Finally, we will examine which, where and in what order checkpoint activators and DNA repair proteins are recruited to the stalled replication forks created by anti-S phase agents. ..
  5. Genetic Analysis of Human First Trimester Trophoblast in Ongoing Pregnancies
    Michael Peter Diamond; Fiscal Year: 2013
    ..be compared to neonatal DNA by comparative genomic hybridization to determine the numerical status of all 24 human chromosomes. These studies will establish the limitations of TCS for providing reliable genetic information on the fetus ..
  6. Telomerace Recruitment to Telomeres Via Core Telomore Binding Proteins
    Eladio Abreu; Fiscal Year: 2010
    The ends of human chromosomes are protected by DNA-protein complexes called telomeres. In adult somatic cells, telomeres progressively shorten until reaching a critically short length, resulting in senescence or crisis...
  7. Probing blocks to infectious HIV release in mouse cells
    Richard E Sutton; Fiscal Year: 2012
    ..evaluate the isolated cell lines by cell fusions with a variety of other hybrid cell lines to identify other human chromosomes that might be involved in HIV release, and ii) to use a new method of chromosome engineering to identify the ..
  8. CHROMOSOMAL REPRESSION OF YEAST HETEROCHROMATIN
    Michael Grunstein; Fiscal Year: 2010
    ..Heterochromatin is a large condensed fraction of human chromosomes and is involved in silencing genes and enabling accurate transfer of chromosomes to dividing cells...
  9. A new system for mammalian cell genetics using a haploid genomic context
    Thijn Brummelkamp; Fiscal Year: 2010
    ..to develop a new system for mammalian cell genetics using a cell system that is haploid for nearly all human chromosomes. We will further validate the utility of this approach by identifying novel, cancer-relevant genetic ..
  10. Genome-methylome Interactions
    Kun Zhang; Fiscal Year: 2013
    ..The ultimate goal of this study is to understand how DNA methylation is organized along single human chromosomes, how do such local or long-range organizations relate to the functions, and how do genetic variations affect ..
  11. Epigenomic Mechanisms of Centromere Function and Chromosome Rearrangements
    KAITLIN MARIE STIMPSON; Fiscal Year: 2011
    ..Normal human chromosomes have one centromere, but genome rearrangements that occur in malignant or aging cells produce chromosomes ..
  12. Genetic Modulation of Glaucoma
    Lu Lu; Fiscal Year: 2013
    ..Specifically, we use association analyses of markers encompassing syntenic regions of human chromosomes. In reciprocal reverse translation, we (MMJ and LL) will evaluate known, new, and candidate glaucoma genes ..
  13. Dicentric chromosome formation and stability in humans
    Beth A Sullivan; Fiscal Year: 2013
    ..To circumvent this long-standing problem, we have developed assays to engineer dicentric human chromosomes that molecularly mirror those that occur naturally...
  14. Structure of the Telomere Shelterin Complex
    Ming Lei; Fiscal Year: 2012
    ..A six-protein complex, called shelterin, is thought to protect the telomeres of human chromosomes. TRF1 and TRF2 directly bind double-stranded telomeric DNA, POT1 directly binds the single-stranded 3'-..
  15. Induction of cancer cell death by selective DNA misincorporation
    DEREK JAMES TAYLOR; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Telomeres cap and protect the ends of all human chromosomes. In healthy adult tissue, telomeres shorten with each round of cell division as part of the normal aging process...
  16. Characterization of Genetic Instability at Chromosomal Fragile Sites
    ANNE MARIE CASPER; Fiscal Year: 2010
    ..Naturally-occurring "fragile sites" on human chromosomes are correlated with genetic instability in cancer cells, but it is not well understood how and why these ..
  17. IMMUNITY AND LATENCY TO CHLAMYDIAL INFECTIONS
    GERALD IRWIN BYRNE; Fiscal Year: 2013
    ..Interestingly, these loci have syntenous intervals on human chromosomes 1 and 11, making it highly likely that the approaches we have chosen to study in mice will have ..
  18. HYDROLYTIC AND FREE RADICAL MEDIATED DNA DAMAGE
    Lawrence C Sowers; Fiscal Year: 2012
    ..However, many regions of human chromosomes assume unusual structures (non B-form) under physiological conditions as a consequence of their primary DNA ..
  19. Targeting Telomerase in Pancreateic Cancer
    DEREK JAMES TAYLOR; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Telomeres cap and protect the ends of all human chromosomes. In healthy adult tissue, telomeres shorten with each round of cell division as part of the normal aging process...
  20. The repeat genome in interphase chromosome structure and regulation
    Jeanne Bentley Lawrence; Fiscal Year: 2013
    ..In fact, these high copy repeats populating all human chromosomes are routinely screened out of genomic studies, as they pose technical challenges and thwart standard ..
  21. Ultra-specific In Situ Detection of Short Sequences in Human Genomic DNA under No
    Irina Smolina; Fiscal Year: 2010
    ..The approach to be developed will make it possible to target and specifically label individual genes on human chromosomes in situ, to detect various insertions and transpositions in chromosomes, including diseases-associated ..
  22. MOLECULAR CLONING AND ANALYSIS OF HUMAN GENOMIC REGIONS
    Donald Moir; Fiscal Year: 1990
    The long-term objective of this research is to develop physical maps of human chromosomes beginning with regions around the loci for particular inherited diseases...
  23. Microfluidics-Integrated Photothermal Nanoblade for High-Throughput Large Cargo D
    Michael A Teitell; Fiscal Year: 2013
    ..recently developed cargo transfer technology, which is called the photothermal nanoblade, to deliver whole human chromosomes into human pluripotent stem cells (hPSCs) in order to examine chromosome reprogramming...
  24. IDENTIFICATION OF IMPRINTED GENES ON CHROMOSOME 14
    Lisa Shaffer; Fiscal Year: 2001
    ..UPD has been described for many human chromosomes, resulting in varying clinical outcomes...
  25. GENETIC STUDIES OF HUMAN CENTROMERES
    ETHYLIN JABS; Fiscal Year: 1990
    ..The centromere is the cytologically visible and genetically defined region of human chromosomes which is responsible for proper segregation of chromosomes in both mitosis and meiosis...
  26. HIGH RESOLUTION PHYSICAL MAPS OF 4P AND 5Q
    JOHN WASMUTH; Fiscal Year: 1992
    ..retroviral vectors with extremely rare (10 base and 12 base) restriction endonuclease recognition sites into human chromosomes which will then be used to develop physical maps of 5-10Mb in one step...
  27. PUSHMI-PULLYU HYBRID MAPPING OF THE HUMAN X CHROMOSOME
    HUNTINGTON WILLARD; Fiscal Year: 1992
    DESCRIPTION: (Adapted from Investigators' Abstract) High-resolution physical maps of human chromosomes depend on knowing the order of a series of genetic markers and the distance between adjacent markers...
  28. Smt4 Regulation of Centromere Function and Cohesion
    Jeff Bachant; Fiscal Year: 2007
    During mitosis, all 23 human chromosomes must be faithfully transmitted to progeny cells. Errors in this process result in aneuploidy, a form of genetic instability associated with tumorigenesis...
  29. AGING EFFECTS OF ANEUPLOIDY
    W Brown; Fiscal Year: 1980
    Interspecific somatic cell hybrids retaining the 21st and the X human chromosomes will be analyzed by 2-D gel electrophoresis in order to identify those gene products encoded by these chromosomes...
  30. Aging & Genomic Changes: Role of Environment/Genetics
    Colleen Jackson Cook; Fiscal Year: 2009
    ..The cytogenetic abnormalities will be identified for each of the 24 human chromosomes using a novel assay we developed which combines spectral karyotyping (SKY), fluorescence in situ ..
  31. NAD METABOLISM AND CHROMOSOME LOSS IN HYBRID CELLS
    Martin Rechsteiner; Fiscal Year: 1980
    ..We will analyze chromosome segregation from human-3T3 hybrids to identify the human chromosomes that confer upon the hybrids the ability to utilize nicotinic acid...
  32. MITOSIS IN NORMAL AND NEOPLASTIC CELLS
    BILL BRINKLEY; Fiscal Year: 2006
    ..will be to (1) determine the higher-order structure and folding of chromatin within centromere domains of human chromosomes, (2) investigate the molecular dynamics and structural relationships of centromeric chromatin and associated ..
  33. FRAMEWORK LINKAGE MAPS OF HUMAN CHROMOSOMES 10 & 20
    Tim Keith; Fiscal Year: 1993
    ..70) spaced at 10 - 15 cM intervals for human chromosomes 5 8, and 16...
  34. AUTOMATED KARYOTYPING SYSTEM
    David Patterson; Fiscal Year: 1990
    ..for over 30 years, having been involved in the establishment of the complete classification system of the human chromosomes, the mapping of over 100 human genes using somatic cell hybrids between human and Chinese hamster cells, the ..
  35. BIOMEDICAL RESEARCH SUPPORT GRANT
    ADRIANNE ROGERS; Fiscal Year: 1991
    ..for over 30 years, having been involved in the establishment of the complete classification system of the human chromosomes, the mapping of over 100 human genes using somatic cell hybrids between human and Chinese hamster cells, the ..
  36. Mapping replication elements on human chromosomes
    Anindya Dutta; Fiscal Year: 2007
    During the DNA synthesis (S) phase of the cell-cycle, origins of DNA replication fire at discrete sites on human chromosomes. The replication forks that initiate at these origins move bi-directionally and terminate when they encounter ..
  37. MAXIMUM LIKELIHOOD MAPPING OF THE HUMAN CHROMOSOMES
    Bronya Keats; Fiscal Year: 1992
    The purpose of this project is to construct up-to-date linkage maps of the human chromosomes based on all relevant studies, without access to the raw phenotype data, and to test hypotheses concerning the chiasma map, interference, race ..
  38. REPLICATION ASYNCHRONY AND IMPRINTING
    R Hansen; Fiscal Year: 1999
    ..will be used to analyze the clones; the inter-Alu clones will also be screened for their presence on single human chromosomes by hybridization to a monochromosomal hybrid panel; sequences that exhibit biphasic or broad replication ..
  39. EARLY S PHASE REPLICATION SITES AS ENVIRONMENTAL TARGETS
    David Kaufman; Fiscal Year: 2002
    The principal investigator has identified several bands in human chromosomes that appear to be among the earliest regions to be replicated in human cells. He has some evidence that he has cloned one of these early replicating regions...
  40. SATELLITE DNA MAPPING WITH CHROMOSOME HETEROMORPHISMS
    R Magenis; Fiscal Year: 1980
    We propose to investigate whether there is correlation between differential staining properties of human chromosomes (Chromosome heteromorphisms) from different individuals and the patterns of in situ hybridization with various satellite ..
  41. FRAMEWORK LINKAGE MAPS OF HUMAN CHROMOSOMES 13Q AND 15Q
    Anne Bowcock; Fiscal Year: 1993
    The goal of this project is to develop framework linkage maps of two acrocentric human chromosomes: 13 and 15. The maps will consist of index markers with a heterozygosity of 0...
  42. MICRODISSECTED LIBRARIES OF HUMAN CHROMOSOMES
    Daniel Johnson; Fiscal Year: 1993
    ..on chromosome dissection, which: (i) contributes to the construction of a 100 kb, STS marked physical map of human chromosomes 1; (ii) contributes to the isolation and analysis of specific chromosomal regions known to contain genes ..
  43. Workshop On Experimental Models from Bursa of Fabricius
    Paul Neiman; Fiscal Year: 2002
    ..of RNA splicing, function of centromeric proteins in chromosome dynamics and targeted mutagenesis in human chromosomes shuttled in and out of DT40 cells...
  44. HUMAN GENOME DISSECTION BY HOMOLOGOUS RECOMBINATION
    Raju Kucherlapati; Fiscal Year: 1993
    ..homologous recombination strategies to generate defined interstitial and terminal deletions of individual human chromosomes. A nested series of interstitial and terminal deletions would aid in generating deletions in the human X-..
  45. DEVELOPMENT OF MOLECULAR MARKERS FOR PROSTATE CANCER
    Carrie Rinker Schaeffer; Fiscal Year: 2000
    ..Genes which normally function to suppress prostate cancer metastasis will be identified by transferring human chromosomes into highly metastatic rat prostatic cancer cells and assaying for metastasis suppression in vivo...
  46. NEW METHODS FOR ANALYZING HUMAN GENES & THEIR DEFECTS
    David Ward; Fiscal Year: 1993
    ..Our specific goals are: 1) to use cloned DNA subsets that hybridize uniquely to specific human chromosomes or discrete subchromosomal regions to identify chromosomal territories in interphase cells by non-isotopic ..
  47. Proteomic Approach to G-Quartets and Cell Aging
    LINDA MC GOWN; Fiscal Year: 2002
    ..identification of celt proteins that bind to G-quartet structures formed by telomeric repeat sequences of human chromosomes. The proposed research takes two "directed" proteomic approaches to capture of G-quartet binding proteins ..
  48. GENETIC STUDIES OF LINKAGE AND RECOMBINATION
    Aravinda Chakravarti; Fiscal Year: 1991
    ..studies will clarify the process of recombination in germ cells and elucidate the nature of interference on human chromosomes. 3...
  49. MOLECULAR CYTOGENETIC ANALYSIS OF HUMAN CHROMOSOMES
    JAY GEORGE; Fiscal Year: 1992
    ....
  50. CENTROMERE STRUCTURE, ASSEMBLY AND FUNCTION IN YEAST
    Pamela Meluh; Fiscal Year: 2004
    ..The pathway of molecular interactions leading to CKC assembly on human chromosomes remains largely unknown...
  51. CROSS-REFERENCING GENES, GENETICS AND MAMMALIAN GENOMES
    Forrest Spencer; Fiscal Year: 1999
    ..Human cDNA sequences from which the ESTs were derived will be mapped to human chromosomes and their positions determined precisely in the mouse genome...
  52. CEPH CONSORTIUM LINKAGE MAPS
    Jeffrey Murray; Fiscal Year: 1991
    One of the goals of the human genome initiative is to create linkage maps for all human chromosomes with an average resolution of I cM...
  53. FACSTAR PLUS CELL SORTER
    Robert Hyman; Fiscal Year: 1991
    ..surface antigen expression, 7) the mechanisms by which oncogenes regulate cell growth, and 8) the mapping of human chromosomes. The Salk Institute Flow Cytometry Laboratory comprises a cell sorter and a flow microfluorimeter...
  54. MOLECULAR REGULATION OF INTERLEUKIN 12 GENE EXPRESSION
    Xiaojing Ma; Fiscal Year: 2003
    ..IL-12 is a heterodimer consisted to two subunits, p40 and p35 that are encoded on different human chromosomes. The expression of these two genes are highly coordinated to form the biologically active IL-12 during an ..
  55. A Mouse Model of the Human 18q Deletion Syndrome
    Ute Hochgeschwender; Fiscal Year: 2005
    ..and "idiopathic" cases will increasingly be established with more sensitive methods and tools for analyzing human chromosomes. With the advances made in sequencing both the human and mouse genome, in genetic engineering, and in DNA ..
  56. MOLECULAR ANALYSIS OF MAMMALIAN KINETOCHORE STRUCTURE
    Kevin Sullivan; Fiscal Year: 1992
    ..CREST scleroderma have been shown to recognize three specific kinetochore binding proteins present on human chromosomes, termed CENP-A, CENP-C...
  57. MAPPING HUMAN CHROMOSOME 11
    THOMAS SHOWS; Fiscal Year: 1993
    A complete map for all human chromosomes would greatly facilitate understanding human biology and molecular disease...
  58. Identification of Pericentromeric Imbalances
    Lisa Shaffer; Fiscal Year: 2005
    ..Based on a literature review of deletions and duplications of the human chromosomes that resulted in malformation, it appears that any region of the genome may be subject to rearrangement, but ..
  59. MINORITY PREDOCTORAL FELLOWSHIP PROGRAM
    DARIA ESTRADA SMITH; Fiscal Year: 2005
    ..underlie them, we are developing a mouse model that utilizes the synteny between mouse chromosomes 2 to human chromosomes 20...
  60. FINE STRUCTURE GENETIC LINKAGE MAP OF CHROMOSOME 21 & 22
    Jonathan Haines; Fiscal Year: 1992
    ..The goal of this proposal is to generate genetic linkage maps of human chromosomes 21 and 22 with a sex-averaged resolution of 1 cM...
  61. CONFOCAL FLUORESCENCE MICROSCOPE
    ROSLYN ORKIN; Fiscal Year: 1991
    ..cytoskeleton during differentiation of absorptive epithelial cells; (4) conduct in situ mapping of genes on human chromosomes; (5) study the organization and physiology of rat hepatocytes cultured for extensive periods in collagen ..
  62. Positional cloning of a gene for mental retardation
    Joseph Higgins; Fiscal Year: 2004
    ..reasons to pursue positional cloning efforts to identify the causative gene: First, the terminal ends of human chromosomes are "hot-spots" in the etiopathogenesis of MR...