The fibrous structure of human chromosomes in relation to rearrangements and aberrations; a theoretical consideration

Abstract

Human chromosomes as a type-sample for mammalian chromosomes consist of 200-A fibers, folded to chromomeres, which are interconnected by about a dozen longitudinal fibers. The average fiber at both interphase and metaphase contains 28.3 lengths of one double helix of DNA per length of fiber. The orientation of DNA imparts polarity to the fiber and thus to the chromosome and is an important constraint in concepts of chromosomal aberrations and rearrangements, some of which are being interpreted on the basis of fiber-fiber exchanges. Chromosomal rearrangements discernible by light microscopy are not likely to be fully synonymous with change in gene sequence. Chromosomes are considered to possess a plane of symmetry originating from semiconservative replication. Implications for chromosomal structure, centromeric function, and chromatid cohesion are discussed. Fibers connecting one chromosome to others are discussed in light of the proposal that fiber regions of repeated nucleotide sequences exist that facilitate fiber-fiber exchanges. No free fiber or DNA ends are thought to occur at any time in the nucleus.