Chromosomes

• genome instability suppressing gene
  14 April 2016

  Genome Instability Suppressing (GIS)
  Gross chromosomal rearrangements (GCRs) play an important role in human diseases, including cancer. The identity of all Genome Instability Suppressing (GIS) genes is not currently known.
  In a study, one hundred eighty two GIS genes were identified that suppressed GCR formation. Another 438 cooperatively acting GIS genes were identified that were not GIS genes, but suppressed the increased genome instability caused by individual query mutations. (...)

• gross chromosomal rearrangement
  14 April 2016

  Gross chromosomal rearrangements (GCRs)
  Gross chromosomal rearrangements (GCRs) play an important role in human diseases, including cancer. The identity of all Genome Instability Suppressing (GIS) genes is not currently known.
  In a study, one hundred eighty two GIS genes were identified that suppressed GCR formation. Another 438 cooperatively acting GIS genes were identified that were not GIS genes, but suppressed the increased genome instability caused by individual query mutations. (...)

• chromosomal structural variations
  15 May 2008

  References
  Hurles ME, Dermitzakis ET, Tyler-Smith C. The functional impact of structural variation in humans. Trends Genet. 2008 May;24(5):238-45. PMID: #18378036#

• chromosome 8
  17 September 2007

  Pathology
  Chr.8 LOH
  See also
  chromosomes

• sister chromatid exchange
  18 July 2007

  See also
  sister chromatid cohesion
  References
  Simpson LJ, Sale JE. Sister chromatid exchange assay. Subcell Biochem. 2006;40:399-403. PMID: #17623929#

• jumping translocations
  14 June 2007

  Jumping translocations (JT) are uncommon constitutional or acquired chromosome rearrangements involving one donor and several recipient chromosomes.
  They occur in various pathologic conditions and the mechanism of their formation remains elusive.
  The major localizations of the breakpoints of JTs in human samples are nonrandomly located in pericentromeric and telomeric regions of chromosomes.
  Comparison of the localization of the chromosomal breakpoints and of presence of interstitial DNA (...)

• sister chromatid cohesion
  30 April 2007

  Pathology
  Roberts syndrome (MIM.268300)
  SC phocomelia (SC pseudothalidomide syndrome) (MIM.269000)
  See also
  cohesins SMC3
  sister chromatid exchange
  References
  Schule, B.; Oviedo, A.; Johnston, K.; Pai, S.; Francke, U. : Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. Am. J. Hum. Genet. 77: 1117-1128, 2005. PubMed ID : #16380922#
  Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, (...)

• acentric
  22 April 2007

  Applied to a chromatid or a chromosome when it lacks a centromere. This condition may arise in an inversion heterozygote as a result of crossing over between a normal and an inverted segment that does not include the centromere.

• evolutionary breakpoints
  25 October 2006

  See also
  cancer-associated breakpoints
  References
  Robinson TJ, Ruiz-Herrera A, Froenicke L. Dissecting the mammalian genome—new insights into chromosomal evolution. Trends Genet. 2006 Jun;22(6):297-301. PMID: #16678302#

• Y chromosome instability
  13 June 2006

  References
  Bianchi NO, Richard SM, Pavicic W. Y chromosome instability in testicular cancer. Mutation Res, 2006.

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