Relevant bibliographies by topics / Human chromosomes

Academic literature on the topic 'Human chromosomes'

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Published: 4 June 2021
Last updated: 29 July 2024

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Journal articles on the topic "Human chromosomes"

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Messier, P. E., R. Drouin, and C. L. Richer. "Electron microscopy of gold-labeled human and equine chromosomes." Journal of Histochemistry & Cytochemistry 37, no. 9 (September 1989): 1443–47. http://dx.doi.org/10.1177/37.9.2768813.

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We present an immunochemical technique for the detection of 5-bromo-2'-deoxyuridine (BrdU) incorporated discontinuously into the chromosomal DNA. A monoclonal anti-BrdU antibody and a protein A-gold complex were used to produce chromosome banding of human and equine chromosomes, specific for electron microscopy (EM). Well-defined bands, symmetry of sister chromatids, concordance between homologues, and band patterns similar to those observed by light microscopy facilitate chromosome identification and karyotyping. From prophase to late metaphase, chromosomes condense and bands appear to fuse. The fusion appears to be owing to chromatin reorganization. Our results underline the value of using immunogold reagents, which are ideal probes for antigen localization on chromosomes.
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Cornforth, Michael N., Karin M. Greulich-Bode, Bradford D. Loucas, Javier Arsuaga, Mariel Vázquez, Rainer K. Sachs, Martina Brückner, et al. "Chromosomes are predominantly located randomly with respect to each other in interphase human cells." Journal of Cell Biology 159, no. 2 (October 28, 2002): 237–44. http://dx.doi.org/10.1083/jcb.200206009.

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To test quantitatively whether there are systematic chromosome–chromosome associations within human interphase nuclei, interchanges between all possible heterologous pairs of chromosomes were measured with 24-color whole-chromosome painting (multiplex FISH), after damage to interphase lymphocytes by sparsely ionizing radiation in vitro. An excess of interchanges for a specific chromosome pair would indicate spatial proximity between the chromosomes comprising that pair. The experimental design was such that quite small deviations from randomness (extra pairwise interchanges within a group of chromosomes) would be detectable. The only statistically significant chromosome cluster was a group of five chromosomes previously observed to be preferentially located near the center of the nucleus. However, quantitatively, the overall deviation from randomness within the whole genome was small. Thus, whereas some chromosome–chromosome associations are clearly present, at the whole-chromosomal level, the predominant overall pattern appears to be spatially random.
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Csonka, E., I. Cserpan, K. Fodor, G. Hollo, R. Katona, J. Kereso, T. Praznovszky, et al. "Novel generation of human satellite DNA-based artificial chromosomes in mammalian cells." Journal of Cell Science 113, no. 18 (September 15, 2000): 3207–16. http://dx.doi.org/10.1242/jcs.113.18.3207.

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An in vivo approach has been developed for generation of artificial chromosomes, based on the induction of intrinsic, large-scale amplification mechanisms of mammalian cells. Here, we describe the successful generation of prototype human satellite DNA-based artificial chromosomes via amplification-dependent de novo chromosome formations induced by integration of exogenous DNA sequences into the centromeric/rDNA regions of human acrocentric chromosomes. Subclones with mitotically stable de novo chromosomes were established, which allowed the initial characterization and purification of these artificial chromosomes. Because of the low complexity of their DNA content, they may serve as a useful tool to study the structure and function of higher eukaryotic chromosomes. Human satellite DNA-based artificial chromosomes containing amplified satellite DNA, rDNA, and exogenous DNA sequences were heterochromatic, however, they provided a suitable chromosomal environment for the expression of the integrated exogenous genetic material. We demonstrate that induced de novo chromosome formation is a reproducible and effective methodology in generating artificial chromosomes from predictable sequences of different mammalian species. Satellite DNA-based artificial chromosomes formed by induced large-scale amplifications on the short arm of human acrocentric chromosomes may become safe or low risk vectors in gene therapy.
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Sajid, Atiqa, El-Nasir Lalani, Bo Chen, Teruo Hashimoto, Darren K. Griffin, Archana Bhartiya, George Thompson, Ian K. Robinson, and Mohammed Yusuf. "Ultra-Structural Imaging Provides 3D Organization of 46 Chromosomes of a Human Lymphocyte Prophase Nucleus." International Journal of Molecular Sciences 22, no. 11 (June 1, 2021): 5987. http://dx.doi.org/10.3390/ijms22115987.

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Three dimensional (3D) ultra-structural imaging is an important tool for unraveling the organizational structure of individual chromosomes at various stages of the cell cycle. Performing hitherto uninvestigated ultra-structural analysis of the human genome at prophase, we used serial block-face scanning electron microscopy (SBFSEM) to understand chromosomal architectural organization within 3D nuclear space. Acquired images allowed us to segment, reconstruct, and extract quantitative 3D structural information about the prophase nucleus and the preserved, intact individual chromosomes within it. Our data demonstrate that each chromosome can be identified with its homolog and classified into respective cytogenetic groups. Thereby, we present the first 3D karyotype built from the compact axial structure seen on the core of all prophase chromosomes. The chromosomes display parallel-aligned sister chromatids with familiar chromosome morphologies with no crossovers. Furthermore, the spatial positions of all 46 chromosomes revealed a pattern showing a gene density-based correlation and a neighborhood map of individual chromosomes based on their relative spatial positioning. A comprehensive picture of 3D chromosomal organization at the nanometer level in a single human lymphocyte cell is presented.
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Haig, David. "A brief history of human autosomes." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1388 (August 29, 1999): 1447–70. http://dx.doi.org/10.1098/rstb.1999.0490.

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Comparative gene mapping and chromosome painting permit the tentative reconstruction of ancestral karyotypes. The modern human karyotype is proposed to differ from that of the most recent common ancestor of catarrhine primates by two major rearrangements. The first was the fission of an ancestral chromosome to produce the homologues of human chromosomes 14 and 15. This fission occurred before the divergence of gibbons from humans and other apes. The second was the fusion of two ancestral chromosomes to form human chromosome 2. This fusion occurred after the divergence of humans and chimpanzees. Moving further back in time, homologues of human chromosomes 3 and 21 were formed by the fission of an ancestral linkage group that combined loci of both human chromosomes, whereas homologues of human chromosomes 12 and 22 were formed by a reciprocal translocation between two ancestral chromosomes. Both events occurred at some time after our most recent common ancestor with lemurs. Less direct evidence suggests that the short and long arms of human chromosomes 8, 16 and 19 were unlinked in this ancestor. Finally, the most recent common ancestor of primates and artiodactyls is proposed to have possessed a chromosome that combined loci from human chromosomes 4 and 8p, a chromosome that combined loci from human chromosomes 16q and 19q, and a chromosome that combined loci from human chromosomes 2p and 20.
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Ghazizadeh, Mohammad, Yoshihiro Sasaki, Tatsuo Oguro, Shigeru Sato, Seiko Egawa, Kyoko Inoue, Akiko Adachi, Hajime Shimizu, and Oichi Kawanami. "A Novel Technique for Observing the Internal Ultrastructure of Human Chromosomes with Known Karyotype." Microscopy and Microanalysis 14, no. 4 (July 4, 2008): 357–61. http://dx.doi.org/10.1017/s143192760808063x.

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Observation of the internal ultrastructure of human chromosomes by transmission electron microscopy (TEM) has frequently been attempted in spite of the difficulties in detaching metaphase chromosome spreads from the glass slide for further processing. In this study we have used a method in which metaphase chromosome spreads were prepared on a flexible thermoplastic membrane (ACLAR) film. To assess chromosome identity, a diamidino-phenylindole staining and karyotying was first done using a conventional cytogenetic system. The chromosome spreads were then fixed with 1% osmium tetroxide, stained with freshly prepared 2% tannic acid, dehydrated, and flat-embedded in epoxy resin. The resin sheet was easily detachable and carried whole chromosome spreads. By this method, TEM observation of chromosomes from normal human lymphocytes allowed a thorough examination of the ultrastructure of centromeres, telomeres, fragile sites, and other chromosomal regions. Various ultrastructural patterns including thick electron dense boundaries, less dense internal regions, and extended chromatin loops at the periphery of the chromosomes were discernible. Application of the present method to chromosome research is expected to provide comprehensive information on the internal ultrastructure of different chromosomal regions in relation to function.
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Weier, Jingly F., Christy Ferlatte, Adolf Baumgartner, Ha Nam Nguyen, Beatrice A. Weier, and Heinz-Ulrich G. Weier. "Analysis of human invasive cytotrophoblasts demonstrates mosaic aneuploidy." PLOS ONE 18, no. 7 (July 21, 2023): e0284317. http://dx.doi.org/10.1371/journal.pone.0284317.

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A total of 24 chromosome-specific fluorescence in situ hybridization probes for interphase nucleus analysis were developed to determine the chromosomal content of individual human invasive cytotrophoblasts derived from in vitro cultured assays. At least 75% of invasive cytotrophoblasts were hyperdiploid and the total number of chromosomes ranged from 47 to 61. The results also demonstrated that these hyperdiploid invasive cytotrophoblasts showed significant heterogeneity. The most copy number gains were observed for chromosomes 13, 14, 15, 19, 21, and 22 with average copy number greater than 2.3. A parallel study using primary invasive cytotrophoblasts also showed a similar trend of copy number changes. Conclusively, 24-chromosome analysis of human non-proliferating cytotrophoblasts (interphase nuclei) was achieved. Hyperdiploidy and chromosomal heterogeneity without endoduplication in invasive cytotrophoblasts may suggest a selective advantage for invasion and short lifespan during normal placental development.
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Drouin, Régen, and Claude-Lise Richer. "High-resolution R-banding at the 1250-band level. II. Schematic representation and nomenclature of human RBG-banded chromosomes." Genome 32, no. 3 (June 1, 1989): 425–39. http://dx.doi.org/10.1139/g89-466.

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Detailed characterization of the RBG-banding pattern at the 1250-band level has been done after thymidine synchronization and block release with 5-bromo-2′-deoxyuridine (BrdU), which induces chromosome elongation and improves definition of chromosomal bands. Optimal conditions for the incorporation of BrdU and the use of the FPG (fluorochrome–photolysis–Giemsa) technique produced excellent band separation and band contrast even in highly elongated prophase chromosomes. Moreover, we did not observe lateral asymmetry in C-banded regions. The schematic representation of these elongated chromosomes in the 1250-band range per haploid set was prepared showing the relative position, the specific size, and the characteristic staining intensity for each band. To this idiogram was extended the International Standard Cytogenetic Nomenclature. This realistic idiogram should help in the preparation of R-banded prophase karyotypes and in the identification and localization of chromosomal rearrangements. Because differences exist between RBG and RHG bands, a brief comparative description of each RBG-banded chromosome is included. Moreover, a minute analysis of the banding pattern revealed that various parts of chromosomes contract differently. We also observed the presence of R-positive bands in heterochromatic regions of the short arms of the acrocentrics, and of chromosomes 1, 9, 16, and Y.Key words: high-resolution chromosome banding, R-banding, idiogram, dynamic bandings, prophase chromosomes, chromosome banding by BrdU incorporation.
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Ibraimov, Abyt. "The origin of the human karyotype: its uniqueness, causes and effects." Current Research in Biochemistry and Molecular Biology 2, no. 1 (January 7, 2020): 9–20. http://dx.doi.org/10.33702/crbmb.2020.1.1.2.

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As is known, the diploid number of human chromosomes is 46, while in other higher primates, such as chimpanzees and gorillas, this number is 48. It has been established that a decrease in the number of chromosomes by two in humans is a result of the fusion of two autosomes into one chromosome in his karyotype ancestors. However, why such changes in chromosomes occurred among the highest primates in humans, their uniqueness, causes and consequences have not yet become the subject of special studies. We believe that the transition from 48 to 46 chromosomes, as well as changes in the composition, localization and amount of chromosomal heterochromatin regions in the karyotype of the ancestors of modern man turned out to be crucial in his formation as a biological species with all the ensuing consequences.
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Escobar, H., I. Nolte, and N. Reimann-Berg. "Relevance of chromosome 13 aberrations in canine tumours." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 40, no. 04 (2012): 267–70. http://dx.doi.org/10.1055/s-0038-1623649.

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SummaryFor human tumours there are many reports documenting the correlation between chromosome aberrations and tumour entities. Due to the complex canine karyotypic pattern (78 chromosomes), cytogenetic studies of tumours of the dog are rare. However, the reports in the literature show, that canine chromosome 13 (CFA 13) is predominantly involved in chromosomal changes. Interestingly, CFA 13 shows high homology to regions on the human chromosomes 4 (HSA 4) and 8 (HSA 8), which harbour the proto-oncogenes c-KIT and c-MYC. Both of these genes are involved in the development and progression of some human and canine tumour diseases.
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Dissertations / Theses on the topic "Human chromosomes"

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Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.

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Bibliography: leaves 135-151. A study of chromosomal abnormalities and the localisation of chromosomes in human sperm, especially from men with TSD, using fluorescence in situ hybridization (FISH). The project entailed: 1. development of reliable FISH protocols, 2. determination of basline frequencies of aneuploidy, 3. analysis of chromosomal abnormalities in men with severe TSD and 4. assessment of the localisation of individual chromosomes within the sperm head.
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Vásárhelyi, Krisztina. "Statistical study of human constitutional chromosome rearrangement breakpoint distributions." Thesis, University of British Columbia, 1990. http://hdl.handle.net/2429/29201.

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In this study the question of nonrandomness in the distribution of human constitutional rearrangements was evaluated. The distribution of breakpoints were analysed in three groups of reciprocal translocations and three groups of inversions, subdivided according to method of ascertainment of cases for study. In addition, one data set of structural aberrations obtained from sperm chromosomes was also analysed. The method of statistical analysis, based on the binomial distribution, was developed specifically to allow testing distributions in chromosome segments as small as chromosome bands. The distribution of breakpoints was analysed in all data sets using this method, in addition to testing for overall nonrandomness using goodness of fit statistics. Nonrandomness in breakpoint distributions was found in reciprocal translocations (rcp) and inversions ascertained through abnormalities and through incidental events. However, random distribution was observed in incidentally ascertained de novo rearrangements as well as in sperm chromosome aberrations. The nonrandomness in the distribution of rcp breakpoints can be largely attributed to a bias in ascertainment of cases based on the phenotypic manifestations of chromosomal imbalance resulting from a rearrangement. A dependence of the probability of producing specific types of balanced or unbalanced progeny on the position of breakpoints is a likely explanation for the nonrandomness produced in breakpoint distributions. However, some bands including, 5q35, 7p22, 9p22, 13ql4, and 17q25, were observed in different ascertainment groups, excluding selection bias as a likely explanation for this observation. These bands may represent true sites of nonrandom rearrangement due to some factor associated with an underlying DNA sequence or structural characteristic of chromatin that predisposes to rearrangement at specific sites. The nonrandomness observed in the distribution of inversion breakpoints is most likely the product of a founder effect. Many identical inversions in apparently unrelated individuals have been found suggesting that a few ancestral mutations have become widespread in the population. A large data set of incidentally ascertained de novo inversions is required to distinguish between sites of frequent breakage and nonrandomness produced by the ascertainment of related cases. All evidence considered together, indisputable predisposition to rearrangement at specific sites was not found in this study. Furthermore, an overall random association of constitutional rearrangement breakpoints in bands with known oncogenes and fragile sites was observed. However, the possibility of oncogenes and fragile sites as factors involved in constitutional rearrangements in a few isolated cases cannot be excluded. Nonrandomness was found when distribution of breakpoints in light and dark G bands was compared. An excess of breakpoints in some light G bands was observed even after a conservative correction for a possible pattern recognition bias which may lead to the overascertainment of breakpoints in light G bands.
Medicine, Faculty of
Medical Genetics, Department of
Graduate
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Kulharya, Anita S. (Anita Singh). "Cytogenetics of chromosome 22 and its clinical relevance." Thesis, University of North Texas, 1990. https://digital.library.unt.edu/ark:/67531/metadc798385/.

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This investigation reorganizes and identifies chromosomal anomalies and delineates the associated clinical findings. The present investigation involved 37 individuals with anomalies of chromosome 22. The clinical profile with the corresponding cytogenetic anomalies was studied.
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Heller, Raoul. "Engineering of human artificial mini-chromosomes." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360317.

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Ross, Mark T. "Molecular studies of the human sex-chromosomes." Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.258353.

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Bhatt, Samarth. "Segregation analysis of paracentric inversions in human sperm." Montpellier 1, 2008. http://www.theses.fr/2008MON1T002.

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Les inversions paracentriques sont des anomalies chromosomiques généralement considérées comme inoffensives. Toutefois, des cas de porteurs de chromosomes remaniés issus d'inversions paracentriques ont été rapportés, soulignant la nécessité d'étudier le comportement méiotique de ces anomalies. Seules quelques études ont été pratiquées, utilisant la technique de fécondation croisée Homme-Hamster, le typage génétique des spermatozoïdes (sperm typing) ou l'hybridation in situ fluorescente (FISH) par marquages centromériques ou télomériques. Afin d'améliorer l'efficacité de l'étude méiotique des inversions paracentriques, nous avons développé l'utilisation des sondes BAC qui permettent une localisation chromosomique précise des points de cassures chromosomiques et l'identification de tous les produits méiotiques des inversions dans le sperme humain. Les points de cassures et la ségrégation méiotique de 3 inversions paracentriques, inv(5)(q13. 2q33. 1), inv(9)(q21. 2q34. 13) et inv(14)(q23. 2q32. 13), ont ainsi été déterminés. Les taux de recombinants observés dans ces 3 inversions varient de 3,72% à12,55%. Cette localisation des points de cassures et l'analyse des séquences d'ADN adjacentes sont essentielles pour mettre en évidence la formation de boucles d'inversion, pour déterminer le risque de recombinaison à terme, ainsi que pour étudier les mécanismes méiotiques de formation des recombinaisons. Ainsi, la présence de régions d'ADN riches en recombinaisons et en duplications inter-chromosomiques a été mise en évidence, en complément de la formation de recombinants chromosomiques. Par ailleurs, une nouvelle technique de FISH multi-couleurs 3D (3D MCB FISH) a été adaptée aux spermatozoïdes humains pour l'analyse in situ des ségrégations. Cette approche permet de visualiser in situ les inversions paracentriques et d'estimer la fréquence de tous les types de recombinants issus de boucles d'inversion, de recombinaisons U-loop ou de processus de cassure/fusion des chromatides-soeurs.
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Dunn, Alison M. "Cloning of human DNA repair genes." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301385.

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Coultas, Susan L. (Susan Lynette). "A comparison of straight-stained, Q-stained, and reverse flourescent-stained cell lines for detection of fragile sites on the human X chromosome." Thesis, North Texas State University, 1985. https://digital.library.unt.edu/ark:/67531/metadc798127/.

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Cell cultures were examined for percentage of fragile sites seen in straight-stained, Q-stained and reverse fluorescent-stained preparations. In all cases, percentage of fragile site expression was decreased when compared to straight-stained preparations. However, fragile sites seen in Q- and RF-stain could be identified as on X chromosomes.
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Laval, S. H. "Molecular analysis of mammalian sex chromosomes." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302954.

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Mandegar, Mohammad Ali. "Analysis of artificial chromosomes in human embryonic stem cells." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:81d118c3-dd01-40e4-9fea-2c335d9f3101.

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The development of safe and efficient gene delivery systems in pluripotent human embryonic stem cells (hESc) is essential to realising their full potential for basic and clinical research. The purpose of this study was to develop an efficient, non-integrating gene expression system in pluripotent hESc using human artificial chromosomes (HAC). Similar to endogenous chromosomes, HAC are capable of gene expression, replication and segregation during cell division. Unlike retroviral-mediated gene delivery vectors, HAC do not integrate into the host genome and can encompass large genomic regions for the delivery of multiple genes. Despite the advantages HAC offer, their use has been limited due to laborious cloning procedures and poor transfection efficiencies, and thus only studied in immortalised and tumour-derived human cell lines. In this study, the high transduction efficiency of herpes simplex virus type-1 (HSV-1) amplicons was utilised to overcome the described difficulties and delivered HAC vectors into pluripotent hESc. Analysis of stable hESc clones showed that de novo gene-expressing HAC were present at high frequencies ranging from 10-70% of metaphases analysed, without integrating into the genome. The established HAC contained an active centromere, and were stably maintained without integration or loss in the absence of selection for 90 days. Stable HAC-containing hESc clones retained their pluripotency as demonstrated by neuronal differentiation, in vitro germ layer and teratoma formation assays. HAC gene expression persisted, with some variation, post-differentiation in the various deriving cell types. This is the first report of successful de novo HAC formation in hESc for gene expression studies. These findings show potential for delivering high-capacity genomic constructs safely and efficiently into pluripotent cells for the purpose of genetic manipulation and ultimately patient-specific somatic gene therapy.
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Books on the topic "Human chromosomes"

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Therman, Eeva. Human Chromosomes. New York, NY: Springer US, 1986. http://dx.doi.org/10.1007/978-1-4684-0269-8.

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Therman, Eeva, and Millard Susman. Human Chromosomes. New York, NY: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4684-0529-3.

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Miller, Orlando J., and Eeva Therman. Human Chromosomes. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4.

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Yurov, Yuri B., Svetlana G. Vorsanova, and Ivan Y. Iourov, eds. Human Interphase Chromosomes. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-6558-4.

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Iourov, Ivan, Svetlana Vorsanova, and Yuri Yurov, eds. Human Interphase Chromosomes. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-62532-0.

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Li, Peining, and Thomas Liehr, eds. Human Ring Chromosomes. Cham: Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-47530-6.

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Therman, Eeva. Human chromosomes: Structure, behavior, effects. 2nd ed. New York: Springer-Verlag, 1985.

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S, Verma Ram, and Babu Arvind, eds. Human chromosomes: Principles and techniques. 2nd ed. New York: McGraw-Hill, 1995.

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Frederick, Hecht, ed. Fragile sites on human chromosomes. New York: Oxford University Press, 1985.

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James, Louise Anne. Physical mapping on human chromosome 3 using yeast artificial chromosomes. Manchester: University of Manchester, 1994.

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Book chapters on the topic "Human chromosomes"

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Vogel, Friedrich, and Arno G. Motulsky. "Human Chromosomes." In Human Genetics, 20–110. Berlin, Heidelberg: Springer Berlin Heidelberg, 1986. http://dx.doi.org/10.1007/978-3-662-02489-8_3.

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Favilla, Bianca Pereira, Luciana Amaral Haddad, and Maria Isabel Melaragno. "Human Chromosomes." In Human Genome Structure, Function and Clinical Considerations, 25–58. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-73151-9_2.

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Miller, Orlando J., and Eeva Therman. "Origins and Directions of Human Cytogenetics." In Human Chromosomes, 1–11. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_1.

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Miller, Orlando J., and Eeva Therman. "Details of Meiosis." In Human Chromosomes, 141–55. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_10.

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Miller, Orlando J., and Eeva Therman. "Meiotic Abnormalities: Abnormal Numbers of Chromosomes." In Human Chromosomes, 157–74. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_11.

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Miller, Orlando J., and Eeva Therman. "Abnormal Phenotypes Due to Autosomal Aneuploidy or Polyploidy." In Human Chromosomes, 175–85. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_12.

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Miller, Orlando J., and Eeva Therman. "Chromosome Structural Aberrations." In Human Chromosomes, 187–205. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_13.

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Miller, Orlando J., and Eeva Therman. "The Causes of Structural Aberrations." In Human Chromosomes, 207–21. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_14.

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Miller, Orlando J., and Eeva Therman. "Syndromes Due to Autosomal Deletions and Duplications." In Human Chromosomes, 223–37. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_15.

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Miller, Orlando J., and Eeva Therman. "Clinical Importance of Translocations, Inversions, and Insertions." In Human Chromosomes, 239–54. New York, NY: Springer New York, 2001. http://dx.doi.org/10.1007/978-1-4613-0139-4_16.

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Conference papers on the topic "Human chromosomes"

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Branco, Tiago, Miguel Patricio, Francisco Caramelo, and Maria Filomena Botelho. "Mechanical resonance in human chromosomes." In 2015 IEEE 4th Portuguese Meeting on Bioengineering (ENBENG). IEEE, 2015. http://dx.doi.org/10.1109/enbeng.2015.7088816.

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Veiga, A. C. S., J. Belinha, and R. M. Natal Jorge. "Biomechanical Simulation of Human Chromosomes." In 2019 IEEE 6th Portuguese Meeting on Bioengineering (ENBENG). IEEE, 2019. http://dx.doi.org/10.1109/enbeng.2019.8692464.

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Abbase, Saeid, Hassan Khotanlou, Mahlagha Afrasiabi, and Atefeh Asgari. "Automatic identification of chromosomal abnormalities in metaphase karyotype using paired images in human chromosomes." In 2015 2nd International Conference on Knowledge-Based Engineering and Innovation (KBEI). IEEE, 2015. http://dx.doi.org/10.1109/kbei.2015.7436140.

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Müller, Dennis, Julian Stark, and Alwin Kienle. "Angular resolved light scattering microscopy on human chromosomes." In European Conferences on Biomedical Optics, edited by Arjen Amelink and I. Alex Vitkin. SPIE, 2017. http://dx.doi.org/10.1117/12.2284454.

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Jericevic, Zeljko, Brent A. Wiese, Louis C. Smith, Lorris McGavran, B. Carstens, Kenneth R. Castleman, and Donald G. Winkler. "Eigenanalysis Applied To Digital Images Of Human Chromosomes." In OE/LASE '89, edited by Gary C. Salzman. SPIE, 1989. http://dx.doi.org/10.1117/12.951895.

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Arora, Tanvi, Renu Dhir, and Manish Mahajan. "An algorithm to straighten the bent human chromosomes." In 2017 Fourth International Conference on Image Information Processing (ICIIP). IEEE, 2017. http://dx.doi.org/10.1109/iciip.2017.8313772.

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Bosma, P. J., E. A. van den Berg, and T. Kooistra. "ISOLATION OF THE GENE CODING FOR HUMAN PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1 (PAI-1)." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644440.

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A human placenta genomic DNA cosmid library was screened for the presence of the PAI-1 gene using a cDNA probe coding for PAI-1. Two overlapping recombinant cosmids were obtained that contain human DNA spanning 55 kb. The cosmids were mapped using 3' and 5' end probes isolated from an almost full-length cDNA clone of 2.5 kb. The two cosmids were found to contain the entire structural PAI-1 gene (approximately 15 kb) and also included 25 kb 5' flanking sequences. The transcription initiation site was identified by SI nuclease protection experiments and the promotor region was sequenced. Further experiments will be directed at characterizing the regulatory elements of the PAI-1 gene.In order to determine the chromosomal localization of the PAI-1 gene we have hybridized our genomic clones in situ to metaphase chromosomes of a human blood cell culture. Preliminary experiments show a specific hybridization signal which will enable us to sublocalize the chromosomal position of the PAI-1 gene.
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Sahingil, Mehmet Cihan, and Yakup Ozkazanc. "Complexity analysis of gene promoter regions in human chromosomes." In 2014 22nd Signal Processing and Communications Applications Conference (SIU). IEEE, 2014. http://dx.doi.org/10.1109/siu.2014.6830316.

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Ojeda, Jenifer F., Changan Xie, Yong-qing Li, Fred E. Bertrand, John Wiley, and Thomas J. McConnell. "Discrimination of Single Human Chromosomes Using Confocal Raman-tweezers Spectroscopy." In Biomedical Topical Meeting. Washington, D.C.: OSA, 2006. http://dx.doi.org/10.1364/bio.2006.tuf2.

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Wu, Wei, Xiaoli Yang, and Charles Tseng. "Simulation of Human Abnormal Chromosomes: An Innovative Tool for Teaching." In 2011 International Conference on Control, Automation and Systems Engineering (CASE). IEEE, 2011. http://dx.doi.org/10.1109/iccase.2011.5997887.

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Reports on the topic "Human chromosomes"

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Antonarakis, S. E. Human Chromosome 21: Mapping of the chromosomes and cloning of cDNAs. Office of Scientific and Technical Information (OSTI), September 1991. http://dx.doi.org/10.2172/6397375.

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Antonarakis, S. E. Human chromosome 21: Linkage mapping and cloning in yeast artificial chromosomes. Office of Scientific and Technical Information (OSTI), January 1991. http://dx.doi.org/10.2172/6278130.

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Yu, Bin. Statistical Problems in Remote Sensing, Image Compression, and Mapping of Human Chromosomes. Fort Belvoir, VA: Defense Technical Information Center, May 2002. http://dx.doi.org/10.21236/ada413806.

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Fresco, Jacques R. Development of affinity technology for isolating individual human chromosomes by third strand binding. Office of Scientific and Technical Information (OSTI), June 2003. http://dx.doi.org/10.2172/820632.

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Feldman, Moshe, Eitan Millet, Calvin O. Qualset, and Patrick E. McGuire. Mapping and Tagging by DNA Markers of Wild Emmer Alleles that Improve Quantitative Traits in Common Wheat. United States Department of Agriculture, February 2001. http://dx.doi.org/10.32747/2001.7573081.bard.

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The general goal was to identify, map, and tag, with DNA markers, segments of chromosomes of a wild species (wild emmer wheat, the progenitor of cultivated wheat) determining the number, chromosomal locations, interactions, and effects of genes that control quantitative traits when transferred to a cultivated plant (bread wheat). Slight modifications were introduced and not all objectives could be completed within the human and financial resources available, as noted with the specific objectives listed below: 1. To identify the genetic contribution of each of the available wild emmer chromosome-arm substitution lines (CASLs) in the bread wheat cultivar Bethlehem for quantitative traits, including grain yield and its components and grain protein concentration and yield, and the effect of major loci affecting the quality of end-use products. [The quality of end-use products was not analyzed.] 2. To determine the extent and nature of genetic interactions (epistatic effects) between and within homoeologous groups 1 and 7 for the chromosome arms carrying "wild" and "cultivated" alleles as expressed in grain and protein yields and other quantitative traits. [Two experiments were successful, grain protein concentration could not be measured; data are partially analyzed.] 3. To derive recombinant substitution lines (RSLs) for the chromosome arms of homoeologous groups 1 and 7 that were found previously to promote grain and protein yields of cultivated wheat. [The selection of groups 1 and 7 tons based on grain yield in pot experiments. After project began, it was decided also to derive RSLs for the available arms of homoeologous group 4 (4AS and 4BL), based on the apparent importance of chromosome group 4, based on early field trials of the CASLs.] 4. To characterize the RSLs for quantitative traits as in objective 1 and map and tag chromosome segments producing significant effects (quantitative trait loci, QTLs by RFLP markers. [Producing a large population of RSLs for each chromosome arm and mapping them proved more difficult than anticipated, low numbers of RSLs were obtained for two of the chromosome arms.] 5. To construct recombination genetic maps of chromosomes of homoeologous groups 1 and 7 and to compare them to existing maps of wheat and other cereals [Genetic maps are not complete for homoeologous groups 4 and 7.] The rationale for this project is that wild species have characteristics that would be valuable if transferred to a crop plant. We demonstrated the sequence of chromosome manipulations and genetic tests needed to confirm this potential value and enhance transfer. This research has shown that a wild tetraploid species harbors genetic variability for quantitative traits that is interactive and not simply additive when introduced into a common genetic background. Chromosomal segments from several chromosome arms improve yield and protein in wheat but their effect is presumably enhanced when combination of genes from several segments are integrated into a single genotype in order to achieve the benefits of genes from the wild species. The interaction between these genes and those in the recipient species must be accounted for. The results of this study provide a scientific basis for some of the disappointing results that have historically obtained when using wild species as donors for crop improvement and provide a strategy for further successes.
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Weller, Joel, Harris Lewin, Micha Ron, George Wiggans, and Paul VanRaden. A Systematic Genome Search for Genes Affecting Economic Traits Dairy Cattle with the Aid of Genetic Markers. United States Department of Agriculture, April 1999. http://dx.doi.org/10.32747/1999.7695836.bard.

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The objectives were to continue collection of semen for the US dairy bull DNA repository, to conduct a systematic search of the Holstein genome for economically significant economic trait loci (ETL), to develop and refine statistical techniques for the analysis of the data generated, and to confirm significant effects by genotyping daughters i Israel and additional US sons. One-thousand-seventy-six sons of eight US grandsires were genotyped for 174 microsatellites located on all 29 autosomes. ETL were detected for milk production traits on seven chromosomes. ETL for milk and fat yield and fat and protein percentage on BTA3 was mapped to between the markers BL41 and TGLA263. The 95% confidence interval for the ETL affecting fat percentage on BTA14 localized this ETL between the contromere and chromosome position 11 cM. This ETL was verified in the Israeli cattle population by genotyping an independent sample of cows from seven families. The radiation hybrid data for the centromeric region of BTA14 is defined by a single linkage group. Order of Type I genes within this region, CYC-FADK-TG-SQLE, is conserved between human and cattle. Thus, HSA8, the human homologue of BTA14, can be used to identify candidate genes for the ETL.
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Lee, Cheng-Chi. Cloning Human Chromosome 17 Genes:. Fort Belvoir, VA: Defense Technical Information Center, October 1995. http://dx.doi.org/10.21236/ada302601.

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Sutherland, G. R. Physical mapping of human chromosome 16. Office of Scientific and Technical Information (OSTI), January 1992. http://dx.doi.org/10.2172/7236268.

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Sutherland, G. R. Strategies for sequencing human chromosome 16. Office of Scientific and Technical Information (OSTI), June 1996. http://dx.doi.org/10.2172/263992.

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Connolly, Sarah. Mapping genes to human chromosome 19. Office of Scientific and Technical Information (OSTI), May 1996. http://dx.doi.org/10.2172/576741.

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