Barbara McClintock’s Unsolved Chromosomal Mysteries: Parallels to Common Rearrangements and Karyotype Evolution

Abstract

Two obscure studies on chromosomal behavior by Barbara McClintock are revisited in light of subsequent studies and evolutionary genomics of chromosome number reduction. The phenomenon of deficiency recovery in which adjacent genetic markers lost in the zygote reappear in later developmental sectors is discussed in light of de novo centromere formation on chromosomal fragments. Second, McClintock described a small chromosome, which she postulated carried an “X component,” that fostered specific types of chromosomal rearrangements mainly involving centromere changes and attachments to the termini of chromosomes. These findings are cast in the context of subsequent studies on centromere misdivision, the tendency of broken fragments to join chromosome ends, and the realization from genomic sequences that nested chromosomal insertion and end-to-end chromosomal fusions are common features of karyotype evolution. Together, these results suggest a synthesis that centromere breaks, inactivation, and de novo formation together with telomeres—acting under some circumstances as double-strand DNA breaks that join with others—is the underlying basis of these chromosomal phenomena.