Impact of rearrangements on function and position of chromosomes in the interphase nucleus and on human genetic disorders.
A synthesis of numerous published data and my own observations reveal that chromatin structure in interphase is functional, dynamic and complex. I hypothesize that: (1) chromosome regions organize nuclear structures and thus their own environment (address themselves in sites and condensation patterns most appropriate for their functional state in the particular cell); (2) chromosome rearrangement could alter nuclear architecture and thus function; and (3) these ideas can explain the contribution of chromosome rearrangements, even in a balanced form, to human pathologic conditions.
Qumsiyeh
M B
MB
Duke University Medical Center, Cytogenetics Laboratory, Durham, NC 27710, USA.
D000328:Adult; D000818:Animals; D002467:Cell Nucleus / Q000502:physiology / Q000648:ultrastructure*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002875:Chromosomes / Q000502:physiology / Q000648:ultrastructure; D002877:Chromosomes, Human / Q000502:physiology* / Q000648:ultrastructure*; D004261:DNA Replication; D005786:Gene Expression Regulation; D006110:Grasshoppers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D008540:Meiosis; D051379:Mice; D008957:Models, Genetic; D010641:Phenotype; D011995:Recombination, Genetic; D014158:Transcription, Genetic; D014178:Translocation, Genetic