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Saturday, July 25, 2020 | History

3 edition of Fragile sites on human chromosomes found in the catalog.

Fragile sites on human chromosomes

Grant R. Sutherland

Fragile sites on human chromosomes

by Grant R. Sutherland

  • 54 Want to read
  • 22 Currently reading

Published by Oxford University Press in New York .
Written in English

    Subjects:
  • Fragile X syndrome.,
  • Human chromosome abnormalities.,
  • Chromosome Fragile Sites.,
  • Sex Chromosome Abnormalities.

  • Edition Notes

    StatementGrant R. Sutherland and Frederick Hecht ; with contributions by John C. Mulley, and Thomas W. Glover, and Barbara K. Hecht.
    SeriesOxford monographs on medical genetics ;, no. 13
    ContributionsHecht, Frederick.
    Classifications
    LC ClassificationsRJ506.F73 S87 1985
    The Physical Object
    Paginationxiv, 280 p. :
    Number of Pages280
    ID Numbers
    Open LibraryOL2852490M
    ISBN 100195035429
    LC Control Number84014874

    @article{osti_, title = {Interstitial telomeric sequences in human chromosomes cluster with common fragile sites, mutagen sensitive sites, viral integration sites, cancer breakpoints, proto-oncogenes and breakpoints involved in primate evolution}, author = {Adekunle, S S.A. and Wyandt, H and Mark, H F.L.}, abstractNote = {Recently we mapped the telomeric repeat sequences to Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN Reviews: 3.

      The site lies in the middle of a tumor suppressor gene and chromosome breakage in this area is highly associated with cancer. "It is an area that has a tumor suppressor gene -- a gene whose. Heritable Fragile Sites on Human Chromosomes. XI. Factors Affecting Expression of Fragile Sites at 10q25, 16q22, and 17p

    Common fragile sites are chromosomal loci prone to breakage and rearrangement, hypothesized to provide targets for foreign DNA integration. We cloned a simian virus 40 integration site and showed by fluorescent in situ hybridization analysis that the integration event had occurred within a common aphidicolin-induced fragile site on human chromosome 7, FRA7H. INTRODUCTION. Chromosomal fragile sites are non-staining gaps in metaphase chromosomes that are induced to appear under specific cell culture conditions ().There are more than fragile sites in the human genome, distinguished by their frequency in the population and chemistry of induction as well as their physical location.


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Fragile sites on human chromosomes by Grant R. Sutherland Download PDF EPUB FB2

Fragile sites are the chromosomal regions that are susceptible to breakage, and their frequency varies among the human population. Based on the frequency of fragile site induction, they are categorized as common and rare fragile sites.

Common fragile sites are sensitive to replication stress and often rearranged in cancer. Rare fragile sites are the archetypal trinucleotide by: ISBN: OCLC Number: Description: xiv, pages: illustrations ; 25 cm.

Contents: 1. Fragile sites on chromosomes --Laboratory aspects Cytogenetics of the autosomal fragile sites Cytogenetics of the fragile X Tissue culture factors in fragile site expression Biochemistry of fragile site expression --Clinical aspects   Fragile sites have been documented at 2q11, 10q23, 10q25, 11q23, 16q12, 16q22, 20p11 and Xq These are heritable chromosome markers which can be demonstrated in lymphocyte by:   A fragile site is a chromosomal locus that is prone to form a gap or constriction visible within a condensed metaphase chromosome, particularly following exposure of Cited by: 1.

The phenomenon of trinucleotide repeats is seen in several other human disorders. For example, a fragile site on chromosome 3 containing the gene FHIT (fragile histidine triad) is often altered in cells from tumors of patientswith lung cancer. Huntington disease, myotonic dystrophy and spinobulbar muscular atrophy or Kennedy disease are also.

Rare fragile sites (RFSs) are identifiable in less than 5% of the general population, whereas common fragile sites (CFSs) are intrinsic chromosomal regions that are present in all individuals. Most of the CFSs are induced by aphidicolin, whereas others are induced by bromodeoxyuridine or 5-azacytidine.

Chromosomal common fragile sites (CFSs) are unstable genomic regions that break under replication stress and are involved in structural variation. They frequently are sites of chromosomal rearrangements in cancer and of viral integration. However, CFSs are undercharacterized at the molecular level and thus difficult to predict computationally.

Common fragile sites (CFSs) are specific chromosomal regions that preferentially form gaps or breaks on metaphase chromosomes under replication stress. The most typical inducer of CFSs is aphidicolin, an inhibitor of DNA polymerase that induces 77 of 88 known CFSs [1–3].

Fragile Sites: New Discoveries and Changing Perspectives: Medicine & Health Science Books @ Protein coding genes are identified by annotating each fragile site to UCSC genome browser (GRCh38/hg38). To know the extent of miRNA lying in fragile site region, miRNA from miRBase has been mapped.

Comprehensively, HumCFS encompasses mapping of genes with transcripts, miRNA and disease-associated genes on fragile sites. A fragile site is a chromosomal locus that is prone to form a gap or constriction visible within a condensed metaphase chromosome, particularly following exposure of cells to DNA replication stress.

The chromosome band locations of all fragile sites are given, together with their gene symbols, frequency, mode of induction, and status. The majority of these fragile sites are common ones induced to expression by aphidicolin.

Fragile sites are nonrandomly distributed within the genome. Chromosome 3 is especially short of known fragile sites. This is the fourth edition of an acclaimed introductory textbook on the structure and function of human chromosomes.

The explosion of information on human genetic diseases has meant that there is a greater need than ever for students, practising physicians, laboratory technicians, and researchers to have a concise, up-to-date summary of the normal and abnormal behavior of chromosomes.

The observation of heritable fragile sites on human chromosomes prepared for lymphocyte cultures has been shown to depend on the type of tissue culture medium in which the lymphocytes are grown.

Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of gaps, poor staining, constrictions or breaks when chromosomes are exposed to partial DNA replication inhibition. They constitute areas of chromatin that fail to compact during mitosis.

They are classified as. X chromosome-specific recombinant DNA probes have been isolated from an X chromosomal genomic DNA library obtained by flow-sorting human chromosomes. These, and. human genome. This indicates that fragile sites are rich in an essential genome.

The number of fragile sites, genes, and miRNAs corresponding to each chromosome is shown in Figure 1. When we annotate the fragile sites with respect to miRNA, we found that miRNAs are encoded from region lying in the fragile sites, which corresponds to.

Fragile sites are weak genomic points on chromosomes that are involved in chromosomal rearrangements, deletions and reciprocal translocations and are also correlated with points of evolutionary importance involved in the divergence of different species (Yang and Long, ; Ronne, ; Ruiz-Herrera, ).

The X chromosome is one of two sex chromosomes (the other being the Y chromosome). Males have one X and one Y chromosome; females have two X chromosomes. The male who receives the fragile-X chromosome will be affected by the syndrome, which is thought to be one of the major causes of intellectual disability in males.

About one-third of the females who receive one fragile-X chromosome. Hosseini, S. et al. Common chromosome fragile sites in human and murine epithelial cells and FHIT/FRA3B loss-induced global genome instability.

Genes Chromosomes Can – (). Chromosomal fragile sites are specific loci that preferentially exhibit gaps and breaks on metaphase chromosomes following partial inhibition of DNA synthesis.

Their discovery has led to novel findings spanning a number of areas of genetics. Rare fragile sites are seen in a small proportion of individuals and are inherited in a Mendelian manner.Human chromosomal fragile sites (CFSs) are heritable loci or regions of the human chromosomes prone to exhibit gaps, breaks and rearrangements.

Determining the frequency of .Download PDF: Sorry, we are unable to provide the full text but you may find it at the following location(s): g (external link).